Art

J-GLOBAL ID：200902214132779181   Reference number：09A0654178

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

16q24.1上のFOX遺伝子クラスターのゲノムおよび遺伝子欠失およびFOXF1の不活性化突然変異は肺胞キャピラリー異形成および他の奇形の原因となる

Author (36)： STANKIEWICZ Pawel (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  STANKIEWICZ Pawel (Dept of Medical Genetics, Inst. of Mother and Child, 01-211 Warsaw, POL) ,  SEN Partha (Dept of Pediatrics - Nutrition, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  BHATT Samarth S. (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  STORER Mekayla (Inst. of Child Health, WC1N 1EH London, GBR) ,  STORER Mekayla (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  XIA Zhilian (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  BEJJANI Bassem A. (Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA) ,  OU Zhishuo (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  WISZNIEWSKA Joanna (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  DRISCOLL Daniel J. (Div. of Pediatric Genetics and Metabolism, Univ. of Florida Coll. of Medicine, Gainesville, FL 32610, USA) ,  BOLIVAR Juan (Dept of Cardiology, Miami Children’s Hospital, Miami, FL 33155, USA) ,  BAUER Mislen (Dept of Genetics, Miami Children’s Hospital, Miami, FL 33155, USA) ,  ZACKAI Elaine H. (Div. of Human Genetics, Children’s Hospital of Philadelphia, PA 19104, USA) ,  MCDONALD-MCGINN Donna (Div. of Human Genetics, Children’s Hospital of Philadelphia, PA 19104, USA) ,  NOWACZYK Malgorzata M.J. (Dept of Pathology and Molecular Medicine, McMaster Univ., Hamilton, Ontario L8S 3K9, CAN) ,  MURRAY Mitzi (Dept of Medical Genetics, Univ. of Washington, Seattle, WA 98195, USA) ,  SHAIKH Tamim H. (Div. of Human Genetics, Children’s Hospital of Philadelphia, PA 19104, USA) ,  MARTIN Vicki (Inst. of Child Health, WC1N 1EH London, GBR) ,  MARTIN Vicki (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  TYREMAN Matthew (Dept of Medical Genetics, Addenbrooke’s Hospital, CB2 0QQ Cambridge, GBR) ,  SIMONIC Ingrid (Dept of Medical Genetics, Addenbrooke’s Hospital, CB2 0QQ Cambridge, GBR) ,  WILLATT Lionel (Dept of Medical Genetics, Addenbrooke’s Hospital, CB2 0QQ Cambridge, GBR) ,  PATERSON Joan (Dept of Medical Genetics, Addenbrooke’s Hospital, CB2 0QQ Cambridge, GBR) ,  MEHTA Sarju (Dept of Medical Genetics, Addenbrooke’s Hospital, CB2 0QQ Cambridge, GBR) ,  RAJAN Diana (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  FITZGERALD Tomas (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  GRIBBLE Susan (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  PRIGMORE Elena (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  PATEL Ankita (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  SHAFFER Lisa G. (Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA) ,  CARTER Nigel P. (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  CHEUNG Sau Wai (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  LANGSTON Claire (Dept of Pathology, Texas Children’s Hospital, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  SHAW-SMITH Charles (Inst. of Child Health, WC1N 1EH London, GBR) ,  SHAW-SMITH Charles (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR)
Material： American Journal of Human Genetics  (AJHG)
Volume： 84  Issue： 6  Page： 780-791  Publication year： Jun. 12, 2009 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Terms in the title (10)： クラスター ,  ゲノム ,  遺伝子欠失 ,  不活性化 ,  突然変異 ,  肺胞 ,  キャピラリー ,  異形成 ,  奇形 ,  原因