换一批
换一批Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
作者：
Anna R,Duncan [1]
;
Maya M,Polovitskaya [2]
;
Héctor,Gaitán-Peñas [3]
;
Sara,Bertelli [4]
;
Grace E,VanNoy [5]
;
Patricia E,Grant [6]
;
Anne,O'Donnell-Luria [7]
;
Zaheer,Valivullah [8]
;
Alysia Kern,Lovgren [8]
;
Elaina M,England [9]
;
Emanuele,Agolini [10]
;
Jill A,Madden [11]
;
Klaus,Schmitz-Abe [12]
;
Amy,Kritzer [13]
;
Pamela,Hawley [13]
;
Antonio,Novelli [10]
;
Paolo,Alfieri [14]
;
Giovanna Stefania,Colafati [15]
;
Dagmar,Wieczorek [16]
;
Konrad,Platzer [17]
;
Johannes,Luppe [17]
;
Margarete,Koch-Hogrebe [18]
;
Rami,Abou Jamra [17]
;
Juanita,Neira-Fresneda [19]
;
Anna,Lehman [20]
;
Cornelius F,Boerkoel [20]
;
Kimberly,Seath [20]
;
Lorne,Clarke [20]
;
CAUSES Study [20]
;
Yvette,van Ierland [21]
;
Emanuela,Argilli [22]
;
Elliott H,Sherr [22]
;
Andrea,Maiorana [23]
;
Thilo,Diel [24]
;
Maja,Hempel [25]
;
Tatjana,Bierhals [25]
;
Raúl,Estévez [3]
;
Thomas J,Jentsch [26]
;
Michael,Pusch [27]
;
Pankaj B,Agrawal [28]
作者单位：
Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
[1]
Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany; Max-Delbrück-Centrum für Molekulare Medizin (MDC), 13125 Berlin, Germany.
[2]
Unitat de Fisiologia, Departament de Ciències Fisiològiques, IDIBELL-Institute of Neurosciences, Universitat de Barcelona-CIBERER, L'Hospitalet de Llobregat, 08907 Barcelona, Spain.
[3]
Istituto di Biofisica, 16149 Genova, Italy; Scuola Internazionale Superiore di Studi Avanzati (SISSA), 34136 Trieste, Italy.
[4]
Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
[5]
Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Radiology, Boston Children's Hospital, Boston, MA 02115, USA.
[6]
Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 02115, USA; Analytic and Translational Genomics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
[7]
Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
[8]
Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 02115, USA.
[9]
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
[10]
The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 02115, USA.
[11]
Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
[12]
Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 02115, USA.
[13]
Child and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[14]
Oncological Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
[15]
Institute of Human Genetics, Medical Faculty, Heinrich-Heine University, 40225 Düsseldorf, Germany.
[16]
Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
[17]
Vestische Kinder-und Jugendklinik Datteln, Universität Witten-Herdecke, 45711 Datteln, Germany.
[18]
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
[19]
Provincial Medical Genetics Program, University of British Columbia, Department of Medical Genetics, Children's and Women's Health Center of British Columbia, Vancouver, BC V6H 3N1, Canada.
[20]
Erasmus University Medical Center, Department of Clinical Genetics, 3000 CA Rotterdam, the Netherlands.
[21]
Brain Development Research Program, Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
[22]
Neonatology, Ospedale San Giovanni Calibita Fatebenefratelli, 00186 Roma, Italy.
[23]
Division of Neonatology and Pediatric Critical Care Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
[24]
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
[25]
Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany; Max-Delbrück-Centrum für Molekulare Medizin (MDC), 13125 Berlin, Germany; NeuroCure Cluster of Excellence, Charité Universitätsmedizin Berlin, 10117 Berlin, Germany. Electronic address: jentsch@fmp-berlin.de.
[26]
Istituto di Biofisica, 16149 Genova, Italy.
[27]
Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 02115, USA. Electronic address: pagrawal@enders.tch.harvard.edu.
[28]
主题词
青少年(Adolescent);动物(Animals);儿童(Child);儿童, 学龄前(Child, Preschool);氯化物通道(Chloride Channels);疾病模型, 动物(Disease Models, Animal);女(雌)性(Female);纯合子(Homozygote);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);离子通道(Ion Channels);男(雄)性(Male);小鼠(Mice);小鼠, 基因敲除(Mice, Knockout);突变(Mutation);表型(Phenotype)
DOI
10.1016/j.ajhg.2021.06.003
PMID
34186028
发布时间
2022-07-16
- 浏览2
American journal of human genetics
American journal of human genetics
1450-1465页
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