Abstract
Neuroscience;
Original language | English |
---|---|
Article number | 101552 |
Journal | iScience |
Volume | 23 |
Issue number | 10 |
DOIs | |
Publication status | Published - 2020 Oct 23 |
Keywords
- Genomics
- Neuroscience
- Structural Biology
ASJC Scopus subject areas
- General
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In: iScience, Vol. 23, No. 10, 101552, 23.10.2020.
Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia
AU - Dong, Weilai
AU - Jin, Sheng Chih
AU - Allocco, August
AU - Zeng, Xue
AU - Sheth, Amar H.
AU - Panchagnula, Shreyas
AU - Castonguay, Annie
AU - Lorenzo, Louis Étienne
AU - Islam, Barira
AU - Brindle, Geneviève
AU - Bachand, Karine
AU - Hu, Jamie
AU - Sularz, Agata
AU - Gaillard, Jonathan
AU - Choi, Jungmin
AU - Dunbar, Ashley
AU - Nelson-Williams, Carol
AU - Kiziltug, Emre
AU - Furey, Charuta Gavankar
AU - Conine, Sierra
AU - Duy, Phan Q.
AU - Kundishora, Adam J.
AU - Loring, Erin
AU - Li, Boyang
AU - Lu, Qiongshi
AU - Zhou, Geyu
AU - Liu, Wei
AU - Li, Xinyue
AU - Sierant, Michael C.
AU - Mane, Shrikant
AU - Castaldi, Christopher
AU - López-Giráldez, Francesc
AU - Knight, James R.
AU - Sekula, Raymond F.
AU - Simard, J. Marc
AU - Eskandar, Emad N.
AU - Gottschalk, Christopher
AU - Moliterno, Jennifer
AU - Günel, Murat
AU - Gerrard, Jason L.
AU - Dib-Hajj, Sulayman
AU - Waxman, Stephen G.
AU - Barker, Fred G.
AU - Alper, Seth L.
AU - Chahine, Mohamed
AU - Haider, Shozeb
AU - De Koninck, Yves
AU - Lifton, Richard P.
AU - Kahle, Kristopher T.
N1 - Funding Information: We thank the patients and families who participated in this research. We acknowledge Dr. Hongyu Zhao from the Department of Biostatistics, Yale School of Public Health for his mentorship on the statistical analysis and providing access to the UK Biobank Resource under Application Number 29900. We acknowledge support from the Yale-NIH Center for Mendelian Genomics (5U54HG006504) and an NIH NRCDP award to K.T.K. We acknowledge the Canadian Institute of Health Research (CIHR) Foundation grant (FDN389050) to Y.D.K. and CIHR grant (MOP-111072 and MOP-130373) to M.C. We acknowledge Dr. Kaya Bilguvar for his help on exome sequencing for the samples at Yale-NIH Center for Mendelian Genomics. W.D. was supported by American Heart Association Predoctoral Fellowship (19PRE34380842). S.C.J. was supported by the James Hudson Brown-Alexander Brown Coxe Postdoctoral Fellowship, the American Heart Association Postdoctoral Fellowship (18POST34060008), and the K99/R00 Pathway to Independence Award (K99HL143036 and R00HL143036-02). Y.D.K. was supported by a Canada Research Chair in Chronic Pain and Related Brain Disorders. Study design and conceptualization: W.D. R.P.L. and K.T.K. Cohort ascertainment, recruitment, and phenotypic characterization: A.A. S.P. J.H. A.S. J.G. A.D. C.G.F. and S.C. Exome sequencing production and validation: S.M. C.C. F.L.-G. and J.R.K. WES analysis: W.D. S.C.J. X.Z. A.H.S. J.C. and M.C.S. Statistical analysis: W.D. S.C.J. A.H.S. S.P. B.L. Q.L. G.Z. W.L. and X.L. Mouse experiments: A.C. L.-E.L. G.B. K.B. and Y.D.K. Sanger sequencing validation: C.N.-W. Biophysical simulation: B.I. and S.H. Resources: R.P.L. and K.T.K. Writing and review of manuscript: W.D. S.C.J. A.A. S.P. A.H.S. E.K. P.Q.D. A.J.K. R.F.S. J.M.S. E.N.E. C.G. J.M. M.G. J.L.G. S.D.-H. S.G.W. F.G.B. S.L.A. M.C. R.P.L. and K.T.K. Project administration: W.D. E.L. Y.D.K. R.P.L. and K.T.K. Funding acquisition and supervision: R.P.L. and K.T.K. The authors declare no competing interests. Funding Information: We thank the patients and families who participated in this research. We acknowledge Dr. Hongyu Zhao from the Department of Biostatistics, Yale School of Public Health for his mentorship on the statistical analysis and providing access to the UK Biobank Resource under Application Number 29900. We acknowledge support from the Yale-NIH Center for Mendelian Genomics ( 5U54HG006504 ) and an NIH NRCDP award to K.T.K. We acknowledge the Canadian Institute of Health Research (CIHR) Foundation grant ( FDN389050 ) to Y.D.K. and CIHR grant ( MOP-111072 and MOP-130373 ) to M.C. We acknowledge Dr. Kaya Bilguvar for his help on exome sequencing for the samples at Yale-NIH Center for Mendelian Genomics. W.D. was supported by American Heart Association Predoctoral Fellowship ( 19PRE34380842 ). S.C.J. was supported by the James Hudson Brown-Alexander Brown Coxe Postdoctoral Fellowship, the American Heart Association Postdoctoral Fellowship ( 18POST34060008 ), and the K99/R00 Pathway to Independence Award ( K99HL143036 and R00HL143036-02 ). Y.D.K. was supported by a Canada Research Chair in Chronic Pain and Related Brain Disorders. Publisher Copyright: © 2020 The Authors
PY - 2020/10/23
Y1 - 2020/10/23
N2 - Neuroscience;
AB - Neuroscience;
KW - Genomics
KW - Neuroscience
KW - Structural Biology
UR - http://www.scopus.com/inward/record.url?scp=85092127152&partnerID=8YFLogxK
U2 - 10.1016/j.isci.2020.101552
DO - 10.1016/j.isci.2020.101552
M3 - Article
AN - SCOPUS:85092127152
SN - 2589-0042
VL - 23
JO - iScience
JF - iScience
IS - 10
M1 - 101552
ER -