---
_id: '702'
abstract:
- lang: eng
text: "Leading autism-associated mutation in mouse partially mimics human disorder.\r\n\r\n"
article_processing_charge: No
author:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
citation:
ama: Novarino G. The riddle of CHD8 haploinsufficiency in autism spectrum disorder.
Science Translational Medicine. 2017;9(399):eaao0972. doi:10.1126/scitranslmed.aao0972
apa: Novarino, G. (2017). The riddle of CHD8 haploinsufficiency in autism spectrum
disorder. Science Translational Medicine. American Association for the
Advancement of Science. https://doi.org/10.1126/scitranslmed.aao0972
chicago: Novarino, Gaia. “The Riddle of CHD8 Haploinsufficiency in Autism Spectrum
Disorder.” Science Translational Medicine. American Association for the
Advancement of Science, 2017. https://doi.org/10.1126/scitranslmed.aao0972.
ieee: G. Novarino, “The riddle of CHD8 haploinsufficiency in autism spectrum disorder,”
Science Translational Medicine, vol. 9, no. 399. American Association for
the Advancement of Science, p. eaao0972, 2017.
ista: Novarino G. 2017. The riddle of CHD8 haploinsufficiency in autism spectrum
disorder. Science Translational Medicine. 9(399), eaao0972.
mla: Novarino, Gaia. “The Riddle of CHD8 Haploinsufficiency in Autism Spectrum Disorder.”
Science Translational Medicine, vol. 9, no. 399, American Association for
the Advancement of Science, 2017, p. eaao0972, doi:10.1126/scitranslmed.aao0972.
short: G. Novarino, Science Translational Medicine 9 (2017) eaao0972.
corr_author: '1'
date_created: 2018-12-11T11:48:01Z
date_published: 2017-07-19T00:00:00Z
date_updated: 2025-07-10T11:54:10Z
day: '19'
department:
- _id: GaNo
doi: 10.1126/scitranslmed.aao0972
intvolume: ' 9'
issue: '399'
language:
- iso: eng
month: '07'
oa_version: None
page: eaao0972
publication: Science Translational Medicine
publication_identifier:
issn:
- 1946-6234
publication_status: published
publisher: American Association for the Advancement of Science
publist_id: '6993'
quality_controlled: '1'
scopus_import: '1'
status: public
title: The riddle of CHD8 haploinsufficiency in autism spectrum disorder
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2017'
...
---
_id: '713'
abstract:
- lang: eng
text: To determine the dynamics of allelic-specific expression during mouse development,
we analyzed RNA-seq data from 23 F1 tissues from different developmental stages,
including 19 female tissues allowing X chromosome inactivation (XCI) escapers
to also be detected. We demonstrate that allelic expression arising from genetic
or epigenetic differences is highly tissue-specific. We find that tissue-specific
strain-biased gene expression may be regulated by tissue-specific enhancers or
by post-transcriptional differences in stability between the alleles. We also
find that escape from X-inactivation is tissue-specific, with leg muscle showing
an unexpectedly high rate of XCI escapers. By surveying a range of tissues during
development, and performing extensive validation, we are able to provide a high
confidence list of mouse imprinted genes including 18 novel genes. This shows
that cluster size varies dynamically during development and can be substantially
larger than previously thought, with the Igf2r cluster extending over 10 Mb in
placenta.
article_number: e25125
article_processing_charge: No
author:
- first_name: Daniel
full_name: Andergassen, Daniel
last_name: Andergassen
- first_name: Christoph
full_name: Dotter, Christoph
id: 4C66542E-F248-11E8-B48F-1D18A9856A87
last_name: Dotter
orcid: 0000-0002-9033-9096
- first_name: Dyniel
full_name: Wenzel, Dyniel
last_name: Wenzel
- first_name: Verena
full_name: Sigl, Verena
last_name: Sigl
- first_name: Philipp
full_name: Bammer, Philipp
last_name: Bammer
- first_name: Markus
full_name: Muckenhuber, Markus
last_name: Muckenhuber
- first_name: Daniela
full_name: Mayer, Daniela
last_name: Mayer
- first_name: Tomasz
full_name: Kulinski, Tomasz
last_name: Kulinski
- first_name: Hans
full_name: Theussl, Hans
last_name: Theussl
- first_name: Josef
full_name: Penninger, Josef
last_name: Penninger
- first_name: Christoph
full_name: Bock, Christoph
last_name: Bock
- first_name: Denise
full_name: Barlow, Denise
last_name: Barlow
- first_name: Florian
full_name: Pauler, Florian
id: 48EA0138-F248-11E8-B48F-1D18A9856A87
last_name: Pauler
orcid: 0000-0002-7462-0048
- first_name: Quanah
full_name: Hudson, Quanah
last_name: Hudson
citation:
ama: Andergassen D, Dotter C, Wenzel D, et al. Mapping the mouse Allelome reveals
tissue specific regulation of allelic expression. eLife. 2017;6. doi:10.7554/eLife.25125
apa: Andergassen, D., Dotter, C., Wenzel, D., Sigl, V., Bammer, P., Muckenhuber,
M., … Hudson, Q. (2017). Mapping the mouse Allelome reveals tissue specific regulation
of allelic expression. ELife. eLife Sciences Publications. https://doi.org/10.7554/eLife.25125
chicago: Andergassen, Daniel, Christoph Dotter, Dyniel Wenzel, Verena Sigl, Philipp
Bammer, Markus Muckenhuber, Daniela Mayer, et al. “Mapping the Mouse Allelome
Reveals Tissue Specific Regulation of Allelic Expression.” ELife. eLife
Sciences Publications, 2017. https://doi.org/10.7554/eLife.25125.
ieee: D. Andergassen et al., “Mapping the mouse Allelome reveals tissue specific
regulation of allelic expression,” eLife, vol. 6. eLife Sciences Publications,
2017.
ista: Andergassen D, Dotter C, Wenzel D, Sigl V, Bammer P, Muckenhuber M, Mayer
D, Kulinski T, Theussl H, Penninger J, Bock C, Barlow D, Pauler F, Hudson Q. 2017.
Mapping the mouse Allelome reveals tissue specific regulation of allelic expression.
eLife. 6, e25125.
mla: Andergassen, Daniel, et al. “Mapping the Mouse Allelome Reveals Tissue Specific
Regulation of Allelic Expression.” ELife, vol. 6, e25125, eLife Sciences
Publications, 2017, doi:10.7554/eLife.25125.
short: D. Andergassen, C. Dotter, D. Wenzel, V. Sigl, P. Bammer, M. Muckenhuber,
D. Mayer, T. Kulinski, H. Theussl, J. Penninger, C. Bock, D. Barlow, F. Pauler,
Q. Hudson, ELife 6 (2017).
corr_author: '1'
date_created: 2018-12-11T11:48:05Z
date_published: 2017-08-14T00:00:00Z
date_updated: 2025-09-10T11:02:33Z
day: '14'
ddc:
- '576'
department:
- _id: GaNo
- _id: SiHi
doi: 10.7554/eLife.25125
external_id:
isi:
- '000407617200001'
file:
- access_level: open_access
checksum: 1ace3462e64a971b9ead896091829549
content_type: application/pdf
creator: system
date_created: 2018-12-12T10:13:36Z
date_updated: 2020-07-14T12:47:50Z
file_id: '5020'
file_name: IST-2017-885-v1+1_elife-25125-figures-v2.pdf
file_size: 6399510
relation: main_file
- access_level: open_access
checksum: 6241dc31eeb87b03facadec3a53a6827
content_type: application/pdf
creator: system
date_created: 2018-12-12T10:13:36Z
date_updated: 2020-07-14T12:47:50Z
file_id: '5021'
file_name: IST-2017-885-v1+2_elife-25125-v2.pdf
file_size: 4264398
relation: main_file
file_date_updated: 2020-07-14T12:47:50Z
has_accepted_license: '1'
intvolume: ' 6'
isi: 1
language:
- iso: eng
month: '08'
oa: 1
oa_version: Published Version
project:
- _id: 25E9AF9E-B435-11E9-9278-68D0E5697425
call_identifier: FWF
grant_number: P27201-B22
name: Revealing the mechanisms underlying drug interactions
publication: eLife
publication_identifier:
issn:
- 2050-084X
publication_status: published
publisher: eLife Sciences Publications
publist_id: '6971'
pubrep_id: '885'
quality_controlled: '1'
scopus_import: '1'
status: public
title: Mapping the mouse Allelome reveals tissue specific regulation of allelic expression
tmp:
image: /images/cc_by.png
legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
short: CC BY (4.0)
type: journal_article
user_id: 317138e5-6ab7-11ef-aa6d-ffef3953e345
volume: 6
year: '2017'
...
---
_id: '714'
abstract:
- lang: eng
text: Background HIV-1 infection and drug abuse are frequently co-morbid and their
association greatly increases the severity of HIV-1-induced neuropathology. While
nucleus accumbens (NAcc) function is severely perturbed by drugs of abuse, little
is known about how HIV-1 infection affects NAcc. Methods We used calcium and voltage
imaging to investigate the effect of HIV-1 trans-activator of transcription (Tat)
on rat NAcc. Based on previous neuronal studies, we hypothesized that Tat modulates
intracellular Ca2+ homeostasis of NAcc neurons. Results We provide evidence that
Tat triggers a Ca2+ signaling cascade in NAcc medium spiny neurons (MSN) expressing
D1-like dopamine receptors leading to neuronal depolarization. Firstly, Tat induced
inositol 1,4,5-trisphsophate (IP3) receptor-mediated Ca2+ release from endoplasmic
reticulum, followed by Ca2+ and Na+ influx via transient receptor potential canonical
channels. The influx of cations depolarizes the membrane promoting additional
Ca2+ entry through voltage-gated P/Q-type Ca2+ channels and opening of tetrodotoxin-sensitive
Na+ channels. By activating this mechanism, Tat elicits a feed-forward depolarization
increasing the excitability of D1-phosphatidylinositol-linked NAcc MSN. We previously
found that cocaine targets NAcc neurons directly (independent of the inhibition
of dopamine transporter) only when IP3-generating mechanisms are concomitantly
initiated. When tested here, cocaine produced a dose-dependent potentiation of
the effect of Tat on cytosolic Ca2+. Conclusion We describe for the first time
a HIV-1 Tat-triggered Ca2+ signaling in MSN of NAcc involving TRPC and depolarization
and a potentiation of the effect of Tat by cocaine, which may be relevant for
the reward axis in cocaine-abusing HIV-1-positive patients.
acknowledgement: This work was supported by the National Institutes of Health grants
DA035926 (to MEA), and P30DA013429 (to EMU).
article_processing_charge: No
article_type: original
author:
- first_name: Gabriela
full_name: Brailoiu, Gabriela
last_name: Brailoiu
- first_name: Elena
full_name: Deliu, Elena
id: 37A40D7E-F248-11E8-B48F-1D18A9856A87
last_name: Deliu
orcid: 0000-0002-7370-5293
- first_name: Jeffrey
full_name: Barr, Jeffrey
last_name: Barr
- first_name: Linda
full_name: Console Bram, Linda
last_name: Console Bram
- first_name: Alexandra
full_name: Ciuciu, Alexandra
last_name: Ciuciu
- first_name: Mary
full_name: Abood, Mary
last_name: Abood
- first_name: Ellen
full_name: Unterwald, Ellen
last_name: Unterwald
- first_name: Eugen
full_name: Brǎiloiu, Eugen
last_name: Brǎiloiu
citation:
ama: Brailoiu G, Deliu E, Barr J, et al. HIV Tat excites D1 receptor-like expressing
neurons from rat nucleus accumbens. Drug and Alcohol Dependence. 2017;178:7-14.
doi:10.1016/j.drugalcdep.2017.04.015
apa: Brailoiu, G., Deliu, E., Barr, J., Console Bram, L., Ciuciu, A., Abood, M.,
… Brǎiloiu, E. (2017). HIV Tat excites D1 receptor-like expressing neurons from
rat nucleus accumbens. Drug and Alcohol Dependence. Elsevier. https://doi.org/10.1016/j.drugalcdep.2017.04.015
chicago: Brailoiu, Gabriela, Elena Deliu, Jeffrey Barr, Linda Console Bram, Alexandra
Ciuciu, Mary Abood, Ellen Unterwald, and Eugen Brǎiloiu. “HIV Tat Excites D1 Receptor-like
Expressing Neurons from Rat Nucleus Accumbens.” Drug and Alcohol Dependence.
Elsevier, 2017. https://doi.org/10.1016/j.drugalcdep.2017.04.015.
ieee: G. Brailoiu et al., “HIV Tat excites D1 receptor-like expressing neurons
from rat nucleus accumbens,” Drug and Alcohol Dependence, vol. 178. Elsevier,
pp. 7–14, 2017.
ista: Brailoiu G, Deliu E, Barr J, Console Bram L, Ciuciu A, Abood M, Unterwald
E, Brǎiloiu E. 2017. HIV Tat excites D1 receptor-like expressing neurons from
rat nucleus accumbens. Drug and Alcohol Dependence. 178, 7–14.
mla: Brailoiu, Gabriela, et al. “HIV Tat Excites D1 Receptor-like Expressing Neurons
from Rat Nucleus Accumbens.” Drug and Alcohol Dependence, vol. 178, Elsevier,
2017, pp. 7–14, doi:10.1016/j.drugalcdep.2017.04.015.
short: G. Brailoiu, E. Deliu, J. Barr, L. Console Bram, A. Ciuciu, M. Abood, E.
Unterwald, E. Brǎiloiu, Drug and Alcohol Dependence 178 (2017) 7–14.
date_created: 2018-12-11T11:48:05Z
date_published: 2017-09-01T00:00:00Z
date_updated: 2026-04-16T10:01:59Z
day: '01'
department:
- _id: GaNo
doi: 10.1016/j.drugalcdep.2017.04.015
external_id:
isi:
- '000409152300002'
pmid:
- '28623807'
intvolume: ' 178'
isi: 1
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797705
month: '09'
oa: 1
oa_version: Submitted Version
page: 7 - 14
pmid: 1
publication: Drug and Alcohol Dependence
publication_identifier:
issn:
- 0376-8716
publication_status: published
publisher: Elsevier
publist_id: '6967'
quality_controlled: '1'
scopus_import: '1'
status: public
title: HIV Tat excites D1 receptor-like expressing neurons from rat nucleus accumbens
type: journal_article
user_id: ba8df636-2132-11f1-aed0-ed93e2281fdd
volume: 178
year: '2017'
...
---
_id: '715'
abstract:
- lang: eng
text: D-cycloserine ameliorates breathing abnormalities and survival rate in a mouse
model of Rett syndrome.
article_number: aao4218
article_processing_charge: No
author:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
citation:
ama: Novarino G. More excitation for Rett syndrome. Science Translational Medicine.
2017;9(405). doi:10.1126/scitranslmed.aao4218
apa: Novarino, G. (2017). More excitation for Rett syndrome. Science Translational
Medicine. American Association for the Advancement of Science. https://doi.org/10.1126/scitranslmed.aao4218
chicago: Novarino, Gaia. “More Excitation for Rett Syndrome.” Science Translational
Medicine. American Association for the Advancement of Science, 2017. https://doi.org/10.1126/scitranslmed.aao4218.
ieee: G. Novarino, “More excitation for Rett syndrome,” Science Translational
Medicine, vol. 9, no. 405. American Association for the Advancement of Science,
2017.
ista: Novarino G. 2017. More excitation for Rett syndrome. Science Translational
Medicine. 9(405), aao4218.
mla: Novarino, Gaia. “More Excitation for Rett Syndrome.” Science Translational
Medicine, vol. 9, no. 405, aao4218, American Association for the Advancement
of Science, 2017, doi:10.1126/scitranslmed.aao4218.
short: G. Novarino, Science Translational Medicine 9 (2017).
corr_author: '1'
date_created: 2018-12-11T11:48:06Z
date_published: 2017-08-30T00:00:00Z
date_updated: 2025-07-10T11:54:16Z
day: '30'
department:
- _id: GaNo
doi: 10.1126/scitranslmed.aao4218
intvolume: ' 9'
issue: '405'
language:
- iso: eng
month: '08'
oa_version: None
publication: Science Translational Medicine
publication_identifier:
issn:
- 1946-6234
publication_status: published
publisher: American Association for the Advancement of Science
publist_id: '6968'
quality_controlled: '1'
scopus_import: '1'
status: public
title: More excitation for Rett syndrome
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2017'
...
---
_id: '731'
abstract:
- lang: eng
text: Genetic variations in the oxytocin receptor gene affect patients with ASD
and ADHD differently.
article_number: eaap8168
article_processing_charge: No
author:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
citation:
ama: Novarino G. The science of love in ASD and ADHD. Science Translational Medicine.
2017;9(411). doi:10.1126/scitranslmed.aap8168
apa: Novarino, G. (2017). The science of love in ASD and ADHD. Science Translational
Medicine. American Association for the Advancement of Science. https://doi.org/10.1126/scitranslmed.aap8168
chicago: Novarino, Gaia. “The Science of Love in ASD and ADHD.” Science Translational
Medicine. American Association for the Advancement of Science, 2017. https://doi.org/10.1126/scitranslmed.aap8168.
ieee: G. Novarino, “The science of love in ASD and ADHD,” Science Translational
Medicine, vol. 9, no. 411. American Association for the Advancement of Science,
2017.
ista: Novarino G. 2017. The science of love in ASD and ADHD. Science Translational
Medicine. 9(411), eaap8168.
mla: Novarino, Gaia. “The Science of Love in ASD and ADHD.” Science Translational
Medicine, vol. 9, no. 411, eaap8168, American Association for the Advancement
of Science, 2017, doi:10.1126/scitranslmed.aap8168.
short: G. Novarino, Science Translational Medicine 9 (2017).
corr_author: '1'
date_created: 2018-12-11T11:48:12Z
date_published: 2017-10-11T00:00:00Z
date_updated: 2025-07-10T11:54:29Z
day: '11'
department:
- _id: GaNo
doi: 10.1126/scitranslmed.aap8168
intvolume: ' 9'
issue: '411'
language:
- iso: eng
month: '10'
oa_version: None
publication: Science Translational Medicine
publication_identifier:
issn:
- 1946-6234
publication_status: published
publisher: American Association for the Advancement of Science
publist_id: '6938'
quality_controlled: '1'
scopus_import: '1'
status: public
title: The science of love in ASD and ADHD
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2017'
...
---
_id: '747'
abstract:
- lang: eng
text: Bradykinin (BK), a component of the kallikrein-kininogen-kinin system exerts
multiple effects via B1 and B2 receptor activation. In the cardiovascular system,
bradykinin has cardioprotective and vasodilator properties. We investigated the
effect of BK on cardiac-projecting neurons of nucleus ambiguus, a key site for
the parasympathetic cardiac regulation. BK produced a dose-dependent increase
in cytosolic Ca2+ concentration. Pretreatment with HOE140, a B2 receptor antagonist,
but not with R715, a B1 receptor antagonist, abolished the response to BK. A selective
B2 receptor agonist, but not a B1 receptor agonist, elicited an increase in cytosolic
Ca2+ similarly to BK. Inhibition of N-type voltage-gated Ca2+ channels with ω-conotoxin
GVIA had no effect on the Ca2+ signal produced by BK, while pretreatment with
ω-conotoxin MVIIC, a blocker of P/Q-type of Ca2+ channels, significantly diminished
the effect of BK. Pretreatment with xestospongin C and 2-aminoethoxydiphenyl borate,
antagonists of inositol 1,4,5-trisphosphate receptors, abolished the response
to BK. Inhibition of ryanodine receptors reduced the BK-induced Ca2+ increase,
while disruption of lysosomal Ca2+ stores with bafilomycin A1 did not affect the
response. BK produced a dose-dependent depolarization of nucleus ambiguus neurons,
which was prevented by the B2 receptor antagonist. In vivo studies indicate that
microinjection of BK into nucleus ambiguus elicited bradycardia in conscious rats
via B2 receptors. In summary, in cardiac vagal neurons of nucleus ambiguus, BK
activates B2 receptors promoting Ca2+ influx and Ca2+ release from endoplasmic
reticulum, and membrane depolarization; these effects are translated in vivo by
bradycardia.
article_processing_charge: No
article_type: original
author:
- first_name: Eugen
full_name: Brǎiloiu, Eugen
last_name: Brǎiloiu
- first_name: Matthew
full_name: Mcguire, Matthew
last_name: Mcguire
- first_name: Shadaria
full_name: Shuler, Shadaria
last_name: Shuler
- first_name: Elena
full_name: Deliu, Elena
id: 37A40D7E-F248-11E8-B48F-1D18A9856A87
last_name: Deliu
orcid: 0000-0002-7370-5293
- first_name: Jeffrey
full_name: Barr, Jeffrey
last_name: Barr
- first_name: Mary
full_name: Abood, Mary
last_name: Abood
- first_name: Gabriela
full_name: Brailoiu, Gabriela
last_name: Brailoiu
citation:
ama: Brǎiloiu E, Mcguire M, Shuler S, et al. Modulation of cardiac vagal tone by
bradykinin acting on nucleus ambiguus. Neuroscience. 2017;365:23-32. doi:10.1016/j.neuroscience.2017.09.034
apa: Brǎiloiu, E., Mcguire, M., Shuler, S., Deliu, E., Barr, J., Abood, M., &
Brailoiu, G. (2017). Modulation of cardiac vagal tone by bradykinin acting on
nucleus ambiguus. Neuroscience. Elsevier. https://doi.org/10.1016/j.neuroscience.2017.09.034
chicago: Brǎiloiu, Eugen, Matthew Mcguire, Shadaria Shuler, Elena Deliu, Jeffrey
Barr, Mary Abood, and Gabriela Brailoiu. “Modulation of Cardiac Vagal Tone by
Bradykinin Acting on Nucleus Ambiguus.” Neuroscience. Elsevier, 2017. https://doi.org/10.1016/j.neuroscience.2017.09.034.
ieee: E. Brǎiloiu et al., “Modulation of cardiac vagal tone by bradykinin
acting on nucleus ambiguus,” Neuroscience, vol. 365. Elsevier, pp. 23–32,
2017.
ista: Brǎiloiu E, Mcguire M, Shuler S, Deliu E, Barr J, Abood M, Brailoiu G. 2017.
Modulation of cardiac vagal tone by bradykinin acting on nucleus ambiguus. Neuroscience.
365, 23–32.
mla: Brǎiloiu, Eugen, et al. “Modulation of Cardiac Vagal Tone by Bradykinin Acting
on Nucleus Ambiguus.” Neuroscience, vol. 365, Elsevier, 2017, pp. 23–32,
doi:10.1016/j.neuroscience.2017.09.034.
short: E. Brǎiloiu, M. Mcguire, S. Shuler, E. Deliu, J. Barr, M. Abood, G. Brailoiu,
Neuroscience 365 (2017) 23–32.
date_created: 2018-12-11T11:48:17Z
date_published: 2017-12-04T00:00:00Z
date_updated: 2026-04-16T10:04:53Z
day: '04'
department:
- _id: GaNo
doi: 10.1016/j.neuroscience.2017.09.034
external_id:
isi:
- '000415966200003'
pmid:
- '28951324'
intvolume: ' 365'
isi: 1
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798458
month: '12'
oa: 1
oa_version: Submitted Version
page: 23 - 32
pmid: 1
publication: Neuroscience
publication_identifier:
issn:
- 0306-4522
publication_status: published
publisher: Elsevier
publist_id: '6911'
quality_controlled: '1'
scopus_import: '1'
status: public
title: Modulation of cardiac vagal tone by bradykinin acting on nucleus ambiguus
type: journal_article
user_id: ba8df636-2132-11f1-aed0-ed93e2281fdd
volume: 365
year: '2017'
...
---
_id: '1240'
abstract:
- lang: eng
text: 'Background: Long non-coding RNAs (lncRNAs) are increasingly implicated as
gene regulators and may ultimately be more numerous than protein-coding genes
in the human genome. Despite large numbers of reported lncRNAs, reference annotations
are likely incomplete due to their lower and tighter tissue-specific expression
compared to mRNAs. An unexplored factor potentially confounding lncRNA identification
is inter-individual expression variability. Here, we characterize lncRNA natural
expression variability in human primary granulocytes. Results: We annotate granulocyte
lncRNAs and mRNAs in RNA-seq data from 10 healthy individuals, identifying multiple
lncRNAs absent from reference annotations, and use this to investigate three known
features (higher tissue-specificity, lower expression, and reduced splicing efficiency)
of lncRNAs relative to mRNAs. Expression variability was examined in seven individuals
sampled three times at 1- or more than 1-month intervals. We show that lncRNAs
display significantly more inter-individual expression variability compared to
mRNAs. We confirm this finding in two independent human datasets by analyzing
multiple tissues from the GTEx project and lymphoblastoid cell lines from the
GEUVADIS project. Using the latter dataset we also show that including more human
donors into the transcriptome annotation pipeline allows identification of an
increasing number of lncRNAs, but minimally affects mRNA gene number. Conclusions:
A comprehensive annotation of lncRNAs is known to require an approach that is
sensitive to low and tight tissue-specific expression. Here we show that increased
inter-individual expression variability is an additional general lncRNA feature
to consider when creating a comprehensive annotation of human lncRNAs or proposing
their use as prognostic or disease markers.'
acknowledgement: "This study was partly funded by the Austrian Science Fund (FWF F43-B09,
FWF W1207-B09). PMG is a recipient of a DOC Fellowship of the Austrian Academy of
Sciences.\r\nWe thank Ruth Klement, Tomasz Kulinski, Elisangela Valente, Elisabeth
Salzer,\r\nand Roland Jäger for technical/bioinformatic assistance and advice, the
CeMM\r\nIT department and José Manuel Molero for help and advice on software usage,\r\nthe
Biomedical Sequencing Facility (http://biomedical-sequencing.at/) for\r\nsequencing
and advice, Jacques Colinge, Daniel Andergassen, and Tomasz\r\nKulinski for discussions,
Quanah Hudson and Jörg Menche for reading and\r\ncommenting on the manuscript."
article_number: '14'
article_processing_charge: No
author:
- first_name: Aleksandra
full_name: Kornienko, Aleksandra
last_name: Kornienko
- first_name: Christoph
full_name: Dotter, Christoph
id: 4C66542E-F248-11E8-B48F-1D18A9856A87
last_name: Dotter
orcid: 0000-0002-9033-9096
- first_name: Philipp
full_name: Guenzl, Philipp
last_name: Guenzl
- first_name: Heinz
full_name: Gisslinger, Heinz
last_name: Gisslinger
- first_name: Bettina
full_name: Gisslinger, Bettina
last_name: Gisslinger
- first_name: Ciara
full_name: Cleary, Ciara
last_name: Cleary
- first_name: Robert
full_name: Kralovics, Robert
last_name: Kralovics
- first_name: Florian
full_name: Pauler, Florian
id: 48EA0138-F248-11E8-B48F-1D18A9856A87
last_name: Pauler
orcid: 0000-0002-7462-0048
- first_name: Denise
full_name: Barlow, Denise
last_name: Barlow
citation:
ama: Kornienko A, Dotter C, Guenzl P, et al. Long non-coding RNAs display higher
natural expression variation than protein-coding genes in healthy humans. Genome
Biology. 2016;17(1). doi:10.1186/s13059-016-0873-8
apa: Kornienko, A., Dotter, C., Guenzl, P., Gisslinger, H., Gisslinger, B., Cleary,
C., … Barlow, D. (2016). Long non-coding RNAs display higher natural expression
variation than protein-coding genes in healthy humans. Genome Biology.
BioMed Central. https://doi.org/10.1186/s13059-016-0873-8
chicago: Kornienko, Aleksandra, Christoph Dotter, Philipp Guenzl, Heinz Gisslinger,
Bettina Gisslinger, Ciara Cleary, Robert Kralovics, Florian Pauler, and Denise
Barlow. “Long Non-Coding RNAs Display Higher Natural Expression Variation than
Protein-Coding Genes in Healthy Humans.” Genome Biology. BioMed Central,
2016. https://doi.org/10.1186/s13059-016-0873-8.
ieee: A. Kornienko et al., “Long non-coding RNAs display higher natural expression
variation than protein-coding genes in healthy humans,” Genome Biology,
vol. 17, no. 1. BioMed Central, 2016.
ista: Kornienko A, Dotter C, Guenzl P, Gisslinger H, Gisslinger B, Cleary C, Kralovics
R, Pauler F, Barlow D. 2016. Long non-coding RNAs display higher natural expression
variation than protein-coding genes in healthy humans. Genome Biology. 17(1),
14.
mla: Kornienko, Aleksandra, et al. “Long Non-Coding RNAs Display Higher Natural
Expression Variation than Protein-Coding Genes in Healthy Humans.” Genome Biology,
vol. 17, no. 1, 14, BioMed Central, 2016, doi:10.1186/s13059-016-0873-8.
short: A. Kornienko, C. Dotter, P. Guenzl, H. Gisslinger, B. Gisslinger, C. Cleary,
R. Kralovics, F. Pauler, D. Barlow, Genome Biology 17 (2016).
date_created: 2018-12-11T11:50:53Z
date_published: 2016-01-29T00:00:00Z
date_updated: 2025-09-22T09:17:40Z
day: '29'
ddc:
- '576'
department:
- _id: GaNo
doi: 10.1186/s13059-016-0873-8
external_id:
isi:
- '000368904100001'
file:
- access_level: open_access
checksum: a268beee1a690801c83ec6729f9ebc5b
content_type: application/pdf
creator: system
date_created: 2018-12-12T10:10:05Z
date_updated: 2020-07-14T12:44:41Z
file_id: '4789'
file_name: IST-2016-709-v1+1_s13059-016-0873-8.pdf
file_size: 2914601
relation: main_file
file_date_updated: 2020-07-14T12:44:41Z
has_accepted_license: '1'
intvolume: ' 17'
isi: 1
issue: '1'
language:
- iso: eng
month: '01'
oa: 1
oa_version: Published Version
publication: Genome Biology
publication_status: published
publisher: BioMed Central
publist_id: '6093'
pubrep_id: '709'
quality_controlled: '1'
scopus_import: '1'
status: public
title: Long non-coding RNAs display higher natural expression variation than protein-coding
genes in healthy humans
tmp:
image: /images/cc_by.png
legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
short: CC BY (4.0)
type: journal_article
user_id: 317138e5-6ab7-11ef-aa6d-ffef3953e345
volume: 17
year: '2016'
...
---
_id: '1183'
abstract:
- lang: eng
text: Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping
with other neurological conditions. We previously described abnormalities in the
branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we
show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid
transporter localized at the blood brain barrier (BBB), has an essential role
in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from
the endothelial cells of the BBB leads to atypical brain amino acid profile, abnormal
mRNA translation, and severe neurological abnormalities. Furthermore, we identified
several patients with autistic traits and motor delay carrying deleterious homozygous
mutations in the SLC7A5 gene. Finally, we demonstrate that BCAA intracerebroventricular
administration ameliorates abnormal behaviors in adult mutant mice. Our data elucidate
a neurological syndrome defined by SLC7A5 mutations and support an essential role
for the BCAA in human brain function.
acknowledgement: "This work was supported by NICHD (P01HD070494) and SFARI (grant
275275) to J.G.G., and FWF (SFB35_3523) to G.N.\r\nWe thank A.C. Manzano, Mike Liu,
and F. Marr for technical assistance, and R. Shigemoto and the IST Austria Electron
Microscopy (EM) Facility for assistance. We acknowledge support from CIDR for genome-wide
SNP analysis (X01HG008823) and Broad Institute Center for Mendelian Disorders (UM1HG008900
to D. MacArthur), the Yale Center for Mendelian Disorders (U54HG006504 to M.G.),
the Gregory M. Kiez and Mehmet Kutman Foundation (M.G.), Italian Ministry of Instruction
University and Research (PON01_00937 to C.I.), and NIH (R01-GM108911 to A.S.). This
work was supported by NICHD (P01HD070494) and SFARI (grant 275275) to J.G.G., and
FWF (SFB35_3523) to G.N.\r\n\r\n#EMFacility"
article_processing_charge: No
article_type: original
author:
- first_name: Dora-Clara
full_name: Tarlungeanu, Dora-Clara
id: 2ABCE612-F248-11E8-B48F-1D18A9856A87
last_name: Tarlungeanu
- first_name: Elena
full_name: Deliu, Elena
id: 37A40D7E-F248-11E8-B48F-1D18A9856A87
last_name: Deliu
orcid: 0000-0002-7370-5293
- first_name: Christoph
full_name: Dotter, Christoph
id: 4C66542E-F248-11E8-B48F-1D18A9856A87
last_name: Dotter
orcid: 0000-0002-9033-9096
- first_name: Majdi
full_name: Kara, Majdi
last_name: Kara
- first_name: Philipp
full_name: Janiesch, Philipp
last_name: Janiesch
- first_name: Mariafrancesca
full_name: Scalise, Mariafrancesca
last_name: Scalise
- first_name: Michele
full_name: Galluccio, Michele
last_name: Galluccio
- first_name: Mateja
full_name: Tesulov, Mateja
last_name: Tesulov
- first_name: Emanuela
full_name: Morelli, Emanuela
id: 3F4D1282-F248-11E8-B48F-1D18A9856A87
last_name: Morelli
- first_name: Fatma
full_name: Sönmez, Fatma
last_name: Sönmez
- first_name: Kaya
full_name: Bilgüvar, Kaya
last_name: Bilgüvar
- first_name: Ryuichi
full_name: Ohgaki, Ryuichi
last_name: Ohgaki
- first_name: Yoshikatsu
full_name: Kanai, Yoshikatsu
last_name: Kanai
- first_name: Anide
full_name: Johansen, Anide
last_name: Johansen
- first_name: Seham
full_name: Esharif, Seham
last_name: Esharif
- first_name: Tawfeg
full_name: Ben Omran, Tawfeg
last_name: Ben Omran
- first_name: Meral
full_name: Topcu, Meral
last_name: Topcu
- first_name: Avner
full_name: Schlessinger, Avner
last_name: Schlessinger
- first_name: Cesare
full_name: Indiveri, Cesare
last_name: Indiveri
- first_name: Kent
full_name: Duncan, Kent
last_name: Duncan
- first_name: Ahmet
full_name: Caglayan, Ahmet
last_name: Caglayan
- first_name: Murat
full_name: Günel, Murat
last_name: Günel
- first_name: Joseph
full_name: Gleeson, Joseph
last_name: Gleeson
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
citation:
ama: Tarlungeanu D-C, Deliu E, Dotter C, et al. Impaired amino acid transport at
the blood brain barrier is a cause of autism spectrum disorder. Cell. 2016;167(6):1481-1494.
doi:10.1016/j.cell.2016.11.013
apa: Tarlungeanu, D.-C., Deliu, E., Dotter, C., Kara, M., Janiesch, P., Scalise,
M., … Novarino, G. (2016). Impaired amino acid transport at the blood brain barrier
is a cause of autism spectrum disorder. Cell. Cell Press. https://doi.org/10.1016/j.cell.2016.11.013
chicago: Tarlungeanu, Dora-Clara, Elena Deliu, Christoph Dotter, Majdi Kara, Philipp
Janiesch, Mariafrancesca Scalise, Michele Galluccio, et al. “Impaired Amino Acid
Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.”
Cell. Cell Press, 2016. https://doi.org/10.1016/j.cell.2016.11.013.
ieee: D.-C. Tarlungeanu et al., “Impaired amino acid transport at the blood
brain barrier is a cause of autism spectrum disorder,” Cell, vol. 167,
no. 6. Cell Press, pp. 1481–1494, 2016.
ista: Tarlungeanu D-C, Deliu E, Dotter C, Kara M, Janiesch P, Scalise M, Galluccio
M, Tesulov M, Morelli E, Sönmez F, Bilgüvar K, Ohgaki R, Kanai Y, Johansen A,
Esharif S, Ben Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan K, Caglayan
A, Günel M, Gleeson J, Novarino G. 2016. Impaired amino acid transport at the
blood brain barrier is a cause of autism spectrum disorder. Cell. 167(6), 1481–1494.
mla: Tarlungeanu, Dora-Clara, et al. “Impaired Amino Acid Transport at the Blood
Brain Barrier Is a Cause of Autism Spectrum Disorder.” Cell, vol. 167,
no. 6, Cell Press, 2016, pp. 1481–94, doi:10.1016/j.cell.2016.11.013.
short: D.-C. Tarlungeanu, E. Deliu, C. Dotter, M. Kara, P. Janiesch, M. Scalise,
M. Galluccio, M. Tesulov, E. Morelli, F. Sönmez, K. Bilgüvar, R. Ohgaki, Y. Kanai,
A. Johansen, S. Esharif, T. Ben Omran, M. Topcu, A. Schlessinger, C. Indiveri,
K. Duncan, A. Caglayan, M. Günel, J. Gleeson, G. Novarino, Cell 167 (2016) 1481–1494.
date_created: 2018-12-11T11:50:35Z
date_published: 2016-12-01T00:00:00Z
date_updated: 2026-08-31T22:30:51Z
day: '01'
ddc:
- '576'
- '616'
department:
- _id: GaNo
doi: 10.1016/j.cell.2016.11.013
external_id:
isi:
- '000389470500012'
file:
- access_level: open_access
checksum: 7fe01ab12a6610d3db421e0136db2f77
content_type: application/pdf
creator: system
date_created: 2018-12-12T10:13:44Z
date_updated: 2020-07-14T12:44:37Z
file_id: '5030'
file_name: IST-2017-771-v1+1_Tarlungeanu_et_al._Final_edited.pdf
file_size: 73907957
relation: main_file
file_date_updated: 2020-07-14T12:44:37Z
has_accepted_license: '1'
intvolume: ' 167'
isi: 1
issue: '6'
language:
- iso: eng
month: '12'
oa: 1
oa_version: Submitted Version
page: 1481 - 1494
project:
- _id: 25473368-B435-11E9-9278-68D0E5697425
call_identifier: FWF
grant_number: F03523
name: Transmembrane Transporters in Health and Disease
publication: Cell
publication_status: published
publisher: Cell Press
publist_id: '6170'
pubrep_id: '771'
quality_controlled: '1'
related_material:
record:
- id: '395'
relation: dissertation_contains
status: public
scopus_import: '1'
status: public
title: Impaired amino acid transport at the blood brain barrier is a cause of autism
spectrum disorder
type: journal_article
user_id: 317138e5-6ab7-11ef-aa6d-ffef3953e345
volume: 167
year: '2016'
...
---
_id: '1497'
abstract:
- lang: eng
text: Detecting allelic biases from high-throughput sequencing data requires an
approach that maximises sensitivity while minimizing false positives. Here, we
present Allelome.PRO, an automated user-friendly bioinformatics pipeline, which
uses high-throughput sequencing data from reciprocal crosses of two genetically
distinct mouse strains to detect allele-specific expression and chromatin modifications.
Allelome.PRO extends approaches used in previous studies that exclusively analyzed
imprinted expression to give a complete picture of the ‘allelome’ by automatically
categorising the allelic expression of all genes in a given cell type into imprinted,
strain-biased, biallelic or non-informative. Allelome.PRO offers increased sensitivity
to analyze lowly expressed transcripts, together with a robust false discovery
rate empirically calculated from variation in the sequencing data. We used RNA-seq
data from mouse embryonic fibroblasts from F1 reciprocal crosses to determine
a biologically relevant allelic ratio cutoff, and define for the first time an
entire allelome. Furthermore, we show that Allelome.PRO detects differential enrichment
of H3K4me3 over promoters from ChIP-seq data validating the RNA-seq results. This
approach can be easily extended to analyze histone marks of active enhancers,
or transcription factor binding sites and therefore provides a powerful tool to
identify candidate cis regulatory elements genome wide.
acknowledgement: "Austrian Science Fund [FWF P25185-B22, FWF F4302- B09, FWFW1207-B09].
Funding for open access charge: Austrian Science Fund.\r\nWe thank Florian Breitwieser
for advice during the early stages of this project. High-throughput sequencing was
conducted by the Biomedical Sequencing Facility (BSF) at CeMM in Vienna."
article_number: e146
article_processing_charge: No
author:
- first_name: Daniel
full_name: Andergassen, Daniel
last_name: Andergassen
- first_name: Christoph
full_name: Dotter, Christoph
id: 4C66542E-F248-11E8-B48F-1D18A9856A87
last_name: Dotter
orcid: 0000-0002-9033-9096
- first_name: Tomasz
full_name: Kulinski, Tomasz
last_name: Kulinski
- first_name: Philipp
full_name: Guenzl, Philipp
last_name: Guenzl
- first_name: Philipp
full_name: Bammer, Philipp
last_name: Bammer
- first_name: Denise
full_name: Barlow, Denise
last_name: Barlow
- first_name: Florian
full_name: Pauler, Florian
last_name: Pauler
- first_name: Quanah
full_name: Hudson, Quanah
last_name: Hudson
citation:
ama: Andergassen D, Dotter C, Kulinski T, et al. Allelome.PRO, a pipeline to define
allele-specific genomic features from high-throughput sequencing data. Nucleic
Acids Research. 2015;43(21). doi:10.1093/nar/gkv727
apa: Andergassen, D., Dotter, C., Kulinski, T., Guenzl, P., Bammer, P., Barlow,
D., … Hudson, Q. (2015). Allelome.PRO, a pipeline to define allele-specific genomic
features from high-throughput sequencing data. Nucleic Acids Research.
Oxford University Press. https://doi.org/10.1093/nar/gkv727
chicago: Andergassen, Daniel, Christoph Dotter, Tomasz Kulinski, Philipp Guenzl,
Philipp Bammer, Denise Barlow, Florian Pauler, and Quanah Hudson. “Allelome.PRO,
a Pipeline to Define Allele-Specific Genomic Features from High-Throughput Sequencing
Data.” Nucleic Acids Research. Oxford University Press, 2015. https://doi.org/10.1093/nar/gkv727.
ieee: D. Andergassen et al., “Allelome.PRO, a pipeline to define allele-specific
genomic features from high-throughput sequencing data,” Nucleic Acids Research,
vol. 43, no. 21. Oxford University Press, 2015.
ista: Andergassen D, Dotter C, Kulinski T, Guenzl P, Bammer P, Barlow D, Pauler
F, Hudson Q. 2015. Allelome.PRO, a pipeline to define allele-specific genomic
features from high-throughput sequencing data. Nucleic Acids Research. 43(21),
e146.
mla: Andergassen, Daniel, et al. “Allelome.PRO, a Pipeline to Define Allele-Specific
Genomic Features from High-Throughput Sequencing Data.” Nucleic Acids Research,
vol. 43, no. 21, e146, Oxford University Press, 2015, doi:10.1093/nar/gkv727.
short: D. Andergassen, C. Dotter, T. Kulinski, P. Guenzl, P. Bammer, D. Barlow,
F. Pauler, Q. Hudson, Nucleic Acids Research 43 (2015).
date_created: 2018-12-11T11:52:22Z
date_published: 2015-07-21T00:00:00Z
date_updated: 2025-09-23T07:45:31Z
day: '21'
ddc:
- '570'
department:
- _id: GaNo
doi: 10.1093/nar/gkv727
external_id:
isi:
- '000366410900009'
file:
- access_level: open_access
checksum: 385b83854fd0eb2e4f386867da2823e2
content_type: application/pdf
creator: dernst
date_created: 2018-12-20T14:18:57Z
date_updated: 2020-07-14T12:44:58Z
file_id: '5768'
file_name: 2015_NucleicAcidsRes_Andergassen.pdf
file_size: 6863297
relation: main_file
file_date_updated: 2020-07-14T12:44:58Z
has_accepted_license: '1'
intvolume: ' 43'
isi: 1
issue: '21'
language:
- iso: eng
month: '07'
oa: 1
oa_version: Published Version
publication: Nucleic Acids Research
publication_status: published
publisher: Oxford University Press
publist_id: '5682'
quality_controlled: '1'
scopus_import: '1'
status: public
title: Allelome.PRO, a pipeline to define allele-specific genomic features from high-throughput
sequencing data
tmp:
image: /images/cc_by.png
legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
short: CC BY (4.0)
type: journal_article
user_id: 317138e5-6ab7-11ef-aa6d-ffef3953e345
volume: 43
year: '2015'
...
---
_id: '1789'
abstract:
- lang: eng
text: Intellectual disability (ID) has an estimated prevalence of 2-3%. Due to its
extreme heterogeneity, the genetic basis of ID remains elusive in many cases.
Recently, whole exome sequencing (WES) studies revealed that a large proportion
of sporadic cases are caused by de novo gene variants. To identify further genes
involved in ID, we performed WES in 250 patients with unexplained ID and their
unaffected parents and included exomes of 51 previously sequenced child-parents
trios in the analysis. Exome analysis revealed de novo intragenic variants in
SET domain-containing 5 (SETD5) in two patients. One patient carried a nonsense
variant, and the other an 81 bp deletion located across a splice-donor site. Chromosomal
microarray diagnostics further identified four de novo non-recurrent microdeletions
encompassing SETD5. CRISPR/Cas9 mutation modelling of the two intragenic variants
demonstrated nonsense-mediated decay of the resulting transcripts, pointing to
a loss-of-function (LoF) and haploinsufficiency as the common disease-causing
mechanism of intragenic SETD5 sequence variants and SETD5-containing microdeletions.
In silico domain prediction of SETD5, a predicted SET domain-containing histone
methyltransferase (HMT), substantiated the presence of a SET domain and identified
a novel putative PHD domain, strengthening a functional link to well-known histone-modifying
ID genes. All six patients presented with ID and certain facial dysmorphisms,
suggesting that SETD5 sequence variants contribute substantially to the microdeletion
3p25.3 phenotype. The present report of two SETD5 LoF variants in 301 patients
demonstrates a prevalence of 0.7% and thus SETD5 variants as a relatively frequent
cause of ID.
article_processing_charge: No
author:
- first_name: Alma
full_name: Kuechler, Alma
last_name: Kuechler
- first_name: Alexander
full_name: Zink, Alexander
last_name: Zink
- first_name: Thomas
full_name: Wieland, Thomas
last_name: Wieland
- first_name: Hermann
full_name: Lüdecke, Hermann
last_name: Lüdecke
- first_name: Kirsten
full_name: Cremer, Kirsten
last_name: Cremer
- first_name: Leonardo
full_name: Salviati, Leonardo
last_name: Salviati
- first_name: Pamela
full_name: Magini, Pamela
last_name: Magini
- first_name: Kimia
full_name: Najafi, Kimia
last_name: Najafi
- first_name: Christiane
full_name: Zweier, Christiane
last_name: Zweier
- first_name: Johanna
full_name: Czeschik, Johanna
last_name: Czeschik
- first_name: Stefan
full_name: Aretz, Stefan
last_name: Aretz
- first_name: Sabine
full_name: Endele, Sabine
last_name: Endele
- first_name: Federica
full_name: Tamburrino, Federica
last_name: Tamburrino
- first_name: Claudia
full_name: Pinato, Claudia
last_name: Pinato
- first_name: Maurizio
full_name: Clementi, Maurizio
last_name: Clementi
- first_name: Jasmin
full_name: Gundlach, Jasmin
last_name: Gundlach
- first_name: Carina
full_name: Maylahn, Carina
last_name: Maylahn
- first_name: Laura
full_name: Mazzanti, Laura
last_name: Mazzanti
- first_name: Eva
full_name: Wohlleber, Eva
last_name: Wohlleber
- first_name: Thomas
full_name: Schwarzmayr, Thomas
last_name: Schwarzmayr
- first_name: Roxana
full_name: Kariminejad, Roxana
last_name: Kariminejad
- first_name: Avner
full_name: Schlessinger, Avner
last_name: Schlessinger
- first_name: Dagmar
full_name: Wieczorek, Dagmar
last_name: Wieczorek
- first_name: Tim
full_name: Strom, Tim
last_name: Strom
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
- first_name: Hartmut
full_name: Engels, Hartmut
last_name: Engels
citation:
ama: Kuechler A, Zink A, Wieland T, et al. Loss-of-function variants of SETD5 cause
intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
European Journal of Human Genetics. 2015;23(6):753-760. doi:10.1038/ejhg.2014.165
apa: Kuechler, A., Zink, A., Wieland, T., Lüdecke, H., Cremer, K., Salviati, L.,
… Engels, H. (2015). Loss-of-function variants of SETD5 cause intellectual disability
and the core phenotype of microdeletion 3p25.3 syndrome. European Journal of
Human Genetics. Nature Publishing Group. https://doi.org/10.1038/ejhg.2014.165
chicago: Kuechler, Alma, Alexander Zink, Thomas Wieland, Hermann Lüdecke, Kirsten
Cremer, Leonardo Salviati, Pamela Magini, et al. “Loss-of-Function Variants of
SETD5 Cause Intellectual Disability and the Core Phenotype of Microdeletion 3p25.3
Syndrome.” European Journal of Human Genetics. Nature Publishing Group,
2015. https://doi.org/10.1038/ejhg.2014.165.
ieee: A. Kuechler et al., “Loss-of-function variants of SETD5 cause intellectual
disability and the core phenotype of microdeletion 3p25.3 syndrome,” European
Journal of Human Genetics, vol. 23, no. 6. Nature Publishing Group, pp. 753–760,
2015.
ista: Kuechler A, Zink A, Wieland T, Lüdecke H, Cremer K, Salviati L, Magini P,
Najafi K, Zweier C, Czeschik J, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi
M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad
R, Schlessinger A, Wieczorek D, Strom T, Novarino G, Engels H. 2015. Loss-of-function
variants of SETD5 cause intellectual disability and the core phenotype of microdeletion
3p25.3 syndrome. European Journal of Human Genetics. 23(6), 753–760.
mla: Kuechler, Alma, et al. “Loss-of-Function Variants of SETD5 Cause Intellectual
Disability and the Core Phenotype of Microdeletion 3p25.3 Syndrome.” European
Journal of Human Genetics, vol. 23, no. 6, Nature Publishing Group, 2015,
pp. 753–60, doi:10.1038/ejhg.2014.165.
short: A. Kuechler, A. Zink, T. Wieland, H. Lüdecke, K. Cremer, L. Salviati, P.
Magini, K. Najafi, C. Zweier, J. Czeschik, S. Aretz, S. Endele, F. Tamburrino,
C. Pinato, M. Clementi, J. Gundlach, C. Maylahn, L. Mazzanti, E. Wohlleber, T.
Schwarzmayr, R. Kariminejad, A. Schlessinger, D. Wieczorek, T. Strom, G. Novarino,
H. Engels, European Journal of Human Genetics 23 (2015) 753–760.
date_created: 2018-12-11T11:54:01Z
date_published: 2015-06-15T00:00:00Z
date_updated: 2025-09-23T09:30:27Z
day: '15'
department:
- _id: GaNo
doi: 10.1038/ejhg.2014.165
external_id:
isi:
- '000354474600013'
pmid:
- '25138099'
intvolume: ' 23'
isi: 1
issue: '6'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795044/
month: '06'
oa: 1
oa_version: Submitted Version
page: 753 - 760
pmid: 1
publication: European Journal of Human Genetics
publication_status: published
publisher: Nature Publishing Group
publist_id: '5324'
quality_controlled: '1'
status: public
title: Loss-of-function variants of SETD5 cause intellectual disability and the core
phenotype of microdeletion 3p25.3 syndrome
type: journal_article
user_id: 317138e5-6ab7-11ef-aa6d-ffef3953e345
volume: 23
year: '2015'
...
---
_id: '1916'
abstract:
- lang: eng
text: Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases
characterized by progressive age-dependent loss of corticospinal motor tract function.
Although the genetic basis is partly understood, only a fraction of cases can
receive a genetic diagnosis, and a global view of HSP is lacking. By using whole-exome
sequencing in combination with network analysis, we identified 18 previously unknown
putative HSP genes and validated nearly all of these genes functionally or genetically.
The pathways highlighted by these mutations link HSP to cellular transport, nucleotide
metabolism, and synapse and axon development. Network analysis revealed a host
of further candidate genes, of which three were mutated in our cohort. Our analysis
links HSP to other neurodegenerative disorders and can facilitate gene discovery
and mechanistic understanding of disease.
acknowledgement: Supported by the Deutsche Forschungsgemeinschaft (G.N.)
article_processing_charge: No
article_type: original
author:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
- first_name: Ali
full_name: Fenstermaker, Ali
last_name: Fenstermaker
- first_name: Maha
full_name: Zaki, Maha
last_name: Zaki
- first_name: Matan
full_name: Hofree, Matan
last_name: Hofree
- first_name: Jennifer
full_name: Silhavy, Jennifer
last_name: Silhavy
- first_name: Andrew
full_name: Heiberg, Andrew
last_name: Heiberg
- first_name: Mostafa
full_name: Abdellateef, Mostafa
last_name: Abdellateef
- first_name: Başak
full_name: Rosti, Başak
last_name: Rosti
- first_name: Eric
full_name: Scott, Eric
last_name: Scott
- first_name: Lobna
full_name: Mansour, Lobna
last_name: Mansour
- first_name: Amira
full_name: Masri, Amira
last_name: Masri
- first_name: Hülya
full_name: Kayserili, Hülya
last_name: Kayserili
- first_name: Jumana
full_name: Al Aama, Jumana
last_name: Al Aama
- first_name: Ghada
full_name: Abdel Salam, Ghada
last_name: Abdel Salam
- first_name: Ariana
full_name: Karminejad, Ariana
last_name: Karminejad
- first_name: Majdi
full_name: Kara, Majdi
last_name: Kara
- first_name: Bülent
full_name: Kara, Bülent
last_name: Kara
- first_name: Bita
full_name: Bozorgmehri, Bita
last_name: Bozorgmehri
- first_name: Tawfeg
full_name: Ben Omran, Tawfeg
last_name: Ben Omran
- first_name: Faezeh
full_name: Mojahedi, Faezeh
last_name: Mojahedi
- first_name: Iman
full_name: Mahmoud, Iman
last_name: Mahmoud
- first_name: Naïma
full_name: Bouslam, Naïma
last_name: Bouslam
- first_name: Ahmed
full_name: Bouhouche, Ahmed
last_name: Bouhouche
- first_name: Ali
full_name: Benomar, Ali
last_name: Benomar
- first_name: Sylvain
full_name: Hanein, Sylvain
last_name: Hanein
- first_name: Laure
full_name: Raymond, Laure
last_name: Raymond
- first_name: Sylvie
full_name: Forlani, Sylvie
last_name: Forlani
- first_name: Massimo
full_name: Mascaro, Massimo
last_name: Mascaro
- first_name: Laila
full_name: Selim, Laila
last_name: Selim
- first_name: Nabil
full_name: Shehata, Nabil
last_name: Shehata
- first_name: Nasir
full_name: Al Allawi, Nasir
last_name: Al Allawi
- first_name: Parayil
full_name: Bindu, Parayil
last_name: Bindu
- first_name: Matloob
full_name: Azam, Matloob
last_name: Azam
- first_name: Murat
full_name: Günel, Murat
last_name: Günel
- first_name: Ahmet
full_name: Caglayan, Ahmet
last_name: Caglayan
- first_name: Kaya
full_name: Bilgüvar, Kaya
last_name: Bilgüvar
- first_name: Aslihan
full_name: Tolun, Aslihan
last_name: Tolun
- first_name: Mahmoud
full_name: Issa, Mahmoud
last_name: Issa
- first_name: Jana
full_name: Schroth, Jana
last_name: Schroth
- first_name: Emily
full_name: Spencer, Emily
last_name: Spencer
- first_name: Rasim
full_name: Rosti, Rasim
last_name: Rosti
- first_name: Naiara
full_name: Akizu, Naiara
last_name: Akizu
- first_name: Keith
full_name: Vaux, Keith
last_name: Vaux
- first_name: Anide
full_name: Johansen, Anide
last_name: Johansen
- first_name: Alice
full_name: Koh, Alice
last_name: Koh
- first_name: Hisham
full_name: Megahed, Hisham
last_name: Megahed
- first_name: Alexandra
full_name: Dürr, Alexandra
last_name: Dürr
- first_name: Alexis
full_name: Brice, Alexis
last_name: Brice
- first_name: Giovanni
full_name: Stévanin, Giovanni
last_name: Stévanin
- first_name: Stacy
full_name: Gabriel, Stacy
last_name: Gabriel
- first_name: Trey
full_name: Ideker, Trey
last_name: Ideker
- first_name: Joseph
full_name: Gleeson, Joseph
last_name: Gleeson
citation:
ama: Novarino G, Fenstermaker A, Zaki M, et al. Exome sequencing links corticospinal
motor neuron disease to common neurodegenerative disorders. Science. 2014;343(6170):506-511.
doi:10.1126/science.1247363
apa: Novarino, G., Fenstermaker, A., Zaki, M., Hofree, M., Silhavy, J., Heiberg,
A., … Gleeson, J. (2014). Exome sequencing links corticospinal motor neuron disease
to common neurodegenerative disorders. Science. American Association for
the Advancement of Science. https://doi.org/10.1126/science.1247363
chicago: Novarino, Gaia, Ali Fenstermaker, Maha Zaki, Matan Hofree, Jennifer Silhavy,
Andrew Heiberg, Mostafa Abdellateef, et al. “Exome Sequencing Links Corticospinal
Motor Neuron Disease to Common Neurodegenerative Disorders.” Science. American
Association for the Advancement of Science, 2014. https://doi.org/10.1126/science.1247363.
ieee: G. Novarino et al., “Exome sequencing links corticospinal motor neuron
disease to common neurodegenerative disorders,” Science, vol. 343, no.
6170. American Association for the Advancement of Science, pp. 506–511, 2014.
ista: Novarino G, Fenstermaker A, Zaki M, Hofree M, Silhavy J, Heiberg A, Abdellateef
M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al Aama J, Abdel Salam G,
Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben Omran T, Mojahedi F, Mahmoud
I, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro
M, Selim L, Shehata N, Al Allawi N, Bindu P, Azam M, Günel M, Caglayan A, Bilgüvar
K, Tolun A, Issa M, Schroth J, Spencer E, Rosti R, Akizu N, Vaux K, Johansen A,
Koh A, Megahed H, Dürr A, Brice A, Stévanin G, Gabriel S, Ideker T, Gleeson J.
2014. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative
disorders. Science. 343(6170), 506–511.
mla: Novarino, Gaia, et al. “Exome Sequencing Links Corticospinal Motor Neuron Disease
to Common Neurodegenerative Disorders.” Science, vol. 343, no. 6170, American
Association for the Advancement of Science, 2014, pp. 506–11, doi:10.1126/science.1247363.
short: G. Novarino, A. Fenstermaker, M. Zaki, M. Hofree, J. Silhavy, A. Heiberg,
M. Abdellateef, B. Rosti, E. Scott, L. Mansour, A. Masri, H. Kayserili, J. Al
Aama, G. Abdel Salam, A. Karminejad, M. Kara, B. Kara, B. Bozorgmehri, T. Ben
Omran, F. Mojahedi, I. Mahmoud, N. Bouslam, A. Bouhouche, A. Benomar, S. Hanein,
L. Raymond, S. Forlani, M. Mascaro, L. Selim, N. Shehata, N. Al Allawi, P. Bindu,
M. Azam, M. Günel, A. Caglayan, K. Bilgüvar, A. Tolun, M. Issa, J. Schroth, E.
Spencer, R. Rosti, N. Akizu, K. Vaux, A. Johansen, A. Koh, H. Megahed, A. Dürr,
A. Brice, G. Stévanin, S. Gabriel, T. Ideker, J. Gleeson, Science 343 (2014) 506–511.
date_created: 2018-12-11T11:54:42Z
date_published: 2014-01-31T00:00:00Z
date_updated: 2025-09-29T12:22:05Z
day: '31'
department:
- _id: GaNo
doi: 10.1126/science.1247363
external_id:
isi:
- '000330343700038'
pmid:
- '24482476'
intvolume: ' 343'
isi: 1
issue: '6170'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157572/
month: '01'
oa: 1
oa_version: Submitted Version
page: 506 - 511
pmid: 1
publication: Science
publication_status: published
publisher: American Association for the Advancement of Science
publist_id: '5178'
quality_controlled: '1'
scopus_import: '1'
status: public
title: Exome sequencing links corticospinal motor neuron disease to common neurodegenerative
disorders
type: journal_article
user_id: 317138e5-6ab7-11ef-aa6d-ffef3953e345
volume: 343
year: '2014'
...