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Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Martino, Jeremiah; Liu, Qingxue; Vukojevic, Katarina; Ke, Juntao; Lim, Tze Y; Khan, Atlas; Gupta, Yask; Perez, Alejandra; Yan, Zonghai; Milo Rasouly, Hila; Vena, Natalie; Lippa, Natalie; Giordano, Jessica L; Saraga, Marijan; Saraga-Babic, Mirna; Westland, Rik; Bodria, Monica; Piaggio, Giorgio; Bendapudi, Pavan K; Iglesias, Alejandro D; Wapner, Ronald J; Tasic, Velibor; Wang, Fan; Ionita-Laza, Iuliana; Ghiggeri, Gian Marco; Kiryluk, Krzysztof; Sampogna, Rosemary V; Mendelsohn, Cathy L; D'Agati, Vivette D; Gharavi, Ali G; Sanna-Cherchi, Simone.
Afiliação
  • Martino J; Department of Medicine, Columbia University Irving Medical Center, New York, NY.
  • Liu Q; Department of Medicine, Columbia University Irving Medical Center, New York, NY.
  • Vukojevic K; Department of Medicine, Columbia University Irving Medical Center, New York, NY; Department of Anatomy, Histology and Embryology, University of Split School of Medicine, Split, Croatia.
  • Ke J; Department of Medicine, Columbia University Irving Medical Center, New York, NY.
  • Lim TY; Department of Medicine, Columbia University Irving Medical Center, New York, NY; Unit of Genomic Variability and Complex Diseases, Department of Medical Sciences, University of Turin, Turin, Italy.
  • Khan A; Department of Medicine, Columbia University Irving Medical Center, New York, NY.
  • Gupta Y; Department of Medicine, Columbia University Irving Medical Center, New York, NY; Institute for Inflammation Medicine, University of Lubeck, Germany.
  • Perez A; Department of Medicine, Columbia University Irving Medical Center, New York, NY; Department of Urology, Mount Sinai Medical Center, Miami, FL.
  • Yan Z; Department of Medicine, Columbia University Irving Medical Center, New York, NY.
  • Milo Rasouly H; Department of Medicine, Columbia University Irving Medical Center, New York, NY.
  • Vena N; Department of Medicine, Columbia University Irving Medical Center, New York, NY.
  • Lippa N; Department of Medicine, Columbia University Irving Medical Center, New York, NY.
  • Giordano JL; Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY.
  • Saraga M; Department of Pediatrics, University Hospital of Split, Split, Croatia; School of Medicine, University of Split, Split, Croatia.
  • Saraga-Babic M; Department of Anatomy, Histology and Embryology, University of Split School of Medicine, Split, Croatia.
  • Westland R; Department of Pediatric Nephrology, Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
  • Bodria M; Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratory on Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Piaggio G; Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratory on Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Bendapudi PK; Division of Hematology and Blood Transfusion Service, Massachusetts General Hospital, Boston, MA; Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center, Boston, MA; Harvard Medical School, Boston, MA.
  • Iglesias AD; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY.
  • Wapner RJ; Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY.
  • Tasic V; Medical Faculty of Skopje, University Children's Hospital, Skopje, Macedonia.
  • Wang F; Department of Biostatistics, Columbia University, New York, NY.
  • Ionita-Laza I; Department of Biostatistics, Columbia University, New York, NY.
  • Ghiggeri GM; Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratory on Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Kiryluk K; Department of Medicine, Columbia University Irving Medical Center, New York, NY.
  • Sampogna RV; Department of Medicine, Columbia University Irving Medical Center, New York, NY.
  • Mendelsohn CL; Department of Urology, Columbia University Irving Medical Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY; Columbia Stem Cell Initi
  • D'Agati VD; The Renal Pathology Laboratory of the Department of Pathology and Cell Biology, Columbia University, New York, NY.
  • Gharavi AG; Department of Medicine, Columbia University Irving Medical Center, New York, NY.
  • Sanna-Cherchi S; Department of Medicine, Columbia University Irving Medical Center, New York, NY. Electronic address: ss2517@cumc.columbia.edu.
Genet Med ; 25(12): 100983, 2023 Dec.
Article em En | MEDLINE | ID: mdl-37746849
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Urinário / Anormalidades Urogenitais / Epilepsia Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Urinário / Anormalidades Urogenitais / Epilepsia Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article