Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS.
作者:
Chen,Eitan [1]
;
Aviad,Siany [2]
;
Elad,Barkan [1]
;
Tsviya,Olender [2]
;
Kristel R,van Eijk [3]
;
Matthieu,Moisse [1]
;
Sali M K,Farhan [4]
;
Yehuda M,Danino [5]
;
Eran,Yanowski [6]
;
Hagai,Marmor-Kollet [7]
;
Natalia,Rivkin [8]
;
Nancy Sarah,Yacovzada [1]
;
Shu-Ting,Hung [2]
;
Johnathan,Cooper-Knock [1]
;
Chien-Hsiung,Yu [2]
;
Cynthia,Louis [1]
;
Seth L,Masters [2]
;
Kevin P,Kenna [1]
;
Rick A A,van der Spek [2]
;
William,Sproviero [1]
;
Ahmad,Al Khleifat [2]
;
Alfredo,Iacoangeli [3]
;
Aleksey,Shatunov [9]
;
Ashley R,Jones [10]
;
Yael,Elbaz-Alon [11]
;
Yahel,Cohen [12]
;
Elik,Chapnik [13]
;
Daphna,Rothschild [14]
;
Omer,Weissbrod [13]
;
Gilad,Beck [14]
;
Elena,Ainbinder [13]
;
Shifra,Ben-Dor [14]
;
Sebastian,Werneburg [4]
;
Dorothy P,Schafer [4]
;
Robert H,Brown [15]
;
Pamela J,Shaw [15]
;
Philip,Van Damme [15]
;
Leonard H,van den Berg [15]
;
Hemali,Phatnani [15]
;
Eran,Segal [1]
;
Justin K,Ichida [1]
;
Ammar,Al-Chalabi [2]
;
Jan H,Veldink [1]
;
Project MinE ALS Sequencing Consortium [3]
;
NYGC ALS Consortium [16]
;
Eran,Hornstein [17]
作者单位:
Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
[1]
Department of Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel.
[2]
Department of Computer Science And Applied Math, Weizmann Institute of Science, Rehovot, Israel.
[3]
Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
[4]
KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology, Leuven, Belgium.
[5]
VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, Leuven, Belgium.
[6]
Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
[7]
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[8]
Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
[9]
Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research at USC, Los Angeles, CA, USA.
[10]
Zilkha Neurogenetic Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA.
[11]
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
[12]
Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.
[13]
Department of Medical Biology, University of Melbourne, Parkville, Australia.
[14]
King's College London, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology & Neuroscience, De Crespigny Park, London, United Kingdom.
[15]
Department of Developmental Biology, Stanford University, Stanford, CA, USA.
[16]
Department of Genetics, Stanford University, Stanford, CA, USA.
[17]
Department of Life Sciences Core Facilities, Weizmann Institute of Science, Rehovot, Israel.
[18]
Department of Neurobiology, Brudnick Neuropsychiatric Research Institute, University of Massachusetts Chan Medical School, Worcester, MA, USA.
[19]
Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA.
[20]
University Hospitals Leuven, Department of Neurology, Leuven, Belgium.
[21]
Center for Genomics of Neurodegenerative Disease, New York Genome Center, New York, USA.
[22]
King's College Hospital, Denmark Hill, London, United Kingdom.
[23]
Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel. Eran.hornstein@weizmann.ac.il.
[24]
Department of Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel. Eran.hornstein@weizmann.ac.il.
[25]
主题词
3'非翻译区(3' Untranslated Regions);肌萎缩侧索硬化(Amyotrophic Lateral Sclerosis);人类(Humans);诱导多能干细胞(Induced Pluripotent Stem Cells);白细胞介素18受体β亚单位(Interleukin-18 Receptor beta Subunit);运动神经元(Motor Neurons)
DOI
10.1038/s41593-022-01040-6
PMID
35361972
发布时间
2023-08-11
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Nature neuroscience
Nature neuroscience
433-445页
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