首页> Human mutation> Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.

Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.

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第一作者： Xiaoli,Chen

第一单位： Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.

作者： Xiaoli,Chen ^[1] ; Yu,An ^[2] ; Yonghui,Gao ^[3] ; Liu,Guo ^[4] ; Lei,Rui ^[5] ; Hua,Xie ^[1] ; Mei,Sun ^[6] ; Siv,Lam Hung ^[7] ; Xiaoming,Sheng ^[7] ; Jizhen,Zou ^[8] ; Yihua,Bao ^[1] ; Hongyan,Guan ^[9] ; Bo,Niu ^[10] ; Zandong,Li ^[5] ; Richard H,Finnell ^[11] ; James F,Gusella ^[12] ; Bai-Lin,Wu ^[13] ; Ting,Zhang ^[1]

作者单位： Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China. ^[1] Children's Hospital of Fudan University and Institutes of Biomedical Science, Shanghai Medical College of Fudan University, Shanghai, China. ^[2] Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.;Institute of Acu-moxibustion, China Academy of Chinese Medical Sciences, Beijing, China. ^[3] Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China. ^[4] State Key Laboratories for Agrobiotechnology, China Agricultural University, Beijing, China. ^[5] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts. ^[6] Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. ^[7] Department of Pathology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China. ^[8] Department of Integrated Early Childhood Development, Capital Institute of Pediatrics, Beijing, China. ^[9] Department of Biotechnology, Capital Institute of Pediatrics, Beijing, China. ^[10] Dell Pediatric Research Institute, Department of Nutritional Sciences, The University of Texas at Austin, Austin, Texas. ^[11] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts.;Department of Genetics, Harvard Medical School, Boston, Massachusetts. ^[12] Children's Hospital of Fudan University and Institutes of Biomedical Science, Shanghai Medical College of Fudan University, Shanghai, China.;Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. ^[13]

关键词 PARD3 apical tight junction formation cranial NTDs rare deleterious variants