换一批
换一批Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
第一作者：
Zhigang,Liu
第一单位：
Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA.
作者：
Zhigang,Liu [1]
;
Baozhong,Xin [2]
;
Iris N,Smith [1]
;
Valerie,Sency [2]
;
Julia,Szekely [2]
;
Anna,Alkelai [3]
;
Alan,Shuldiner [3]
;
Stephanie,Efthymiou [4]
;
Farrah,Rajabi [5]
;
Stephanie,Coury [5]
;
Catherine A,Brownstein [6]
;
Sabine,Rudnik-Schöneborn [7]
;
Ange-Line,Bruel [8]
;
Julien,Thevenon [9]
;
Shimriet,Zeidler [10]
;
Parul,Jayakar [11]
;
Axel,Schmidt [12]
;
Kirsten,Cremer [12]
;
Hartmut,Engels [12]
;
Sophia O,Peters [12]
;
Maha S,Zaki [13]
;
Ruizhi,Duan [14]
;
Changlian,Zhu [15]
;
Yiran,Xu [16]
;
Chao,Gao [17]
;
Tania,Sepulveda-Morales [18]
;
Reza,Maroofian [4]
;
Issam A,Alkhawaja [19]
;
Mariam,Khawaja [20]
;
Hunaida,Alhalasah [21]
;
Henry,Houlden [4]
;
Jill A,Madden [6]
;
Valentina,Turchetti [4]
;
Dana,Marafi [22]
;
Pankaj B,Agrawal [23]
;
Ulrich,Schatz [7]
;
Ari,Rotenberg [24]
;
Joshua,Rotenberg [24]
;
Grazia M S,Mancini [10]
;
Somayeh,Bakhtiari [25]
;
Michael,Kruer [25]
;
Isabelle,Thiffault [26]
;
Steffen,Hirsch [27]
;
Maja,Hempel [27]
;
Lara G,Stühn [28]
;
Tobias B,Haack [28]
;
Jennifer E,Posey [14]
;
James R,Lupski [29]
;
Hyunpil,Lee [1]
;
Nicholas B,Sarn [1]
;
Charis,Eng [1]
;
Claudia,Gonzaga-Jauregui [18]
;
Bin,Zhang [1]
;
Heng,Wang [2]
作者单位：
Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA.
[1]
DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA.
[2]
Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.
[3]
Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, London WC1N 3BG, UK.
[4]
Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
[5]
Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA.;The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
[6]
Institute for Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.
[7]
Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne, Dijon 21000, France.;UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon 21000, France.
[8]
Université Grenoble Alpes, Institute for Advanced Biosciences, Grenoble, France.
[9]
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands.
[10]
Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL 33155, USA.
[11]
Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53105 Bonn, Germany.
[12]
Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre, Cairo 12622, Egypt.
[13]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
[14]
Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Göteborg 417 56, Sweden.;Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
[15]
Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
[16]
Department of Pediatric Rehabilitation Medicine, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450012, China.
[17]
International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro 76226, México.
[18]
Al-Bashir Hospital, Pediatric Department, Pediatric Neurology Unit, Amman, Jordan.
[19]
Prince Hamzah Hospital, Amman, Jordan.;Hospital Clínic and Fundació Hospital Sant Joan de Déu de Martorell/Barcelona, Barcelona, Spain.
[20]
Al-Karak Government Teaching Hospital, Al-Karak, Jordan.
[21]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.;Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City 13060, Kuwait.
[22]
Division of Genetics & Genomics, 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 Neonatology, Department of Pediatrics, University of Miami School of Medicine and Jackson Health System, Miami, FL 33136, USA.
[23]
Houston Specialty Clinic, Houston, TX 77024, USA.
[24]
Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.;Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.
[25]
Genomic Medicine Center, Children's Mercy Kansas City, Children's Mercy Research Institute, Kansas City, MO 64108, USA.
[26]
Institute if Human Genetics, Heidelberg University Hospital, 69120 Heidelberg, Germany.
[27]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
[28]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.;Texas Children's Hospital, Houston, TX 77030, USA.;Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.;Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
[29]
主题词
男(雄)性(Male);人类(Humans);蛋白质磷酸酶1(Protein Phosphatase 1);孤独性障碍(Autistic Disorder);葡萄糖(Glucose);糖原(Glycogen)
DOI
10.1093/hmg/ddad124
PMID
37531237
发布时间
2024-11-12
- 浏览2
Human molecular genetics
Human molecular genetics
2981-2995页
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