Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

American Journal of Human Genetics

Volumn 97, Issue 2, 2015, Pages 291-301

  Vivante, Asaf ^a,b   Kleppa, Marc Jens ^c   Schulz, Julian ^a   Kohl, Stefan ^a   Sharma, Amita ^a   Chen, Jing ^a   Shril, Shirlee ^a   Hwang, Daw Yang ^a,d   Weiss, Anna Carina ^c   Kaminski, Michael M ^e   Shukrun, Rachel ^a   Kemper, Markus J ^f   Lehnhardt, Anja ^f   Beetz, Rolf ^g   Sanna Cherchi, Simone ^h   Verbitsky, Miguel ^h   Gharavi, Ali G ^h   Stuart, Helen M ⁱ   Feather, Sally A ^j   Goodship, Judith A ^k   Goodship, Timothy H J ^k   Woolf, Adrian S ⁱ   Westra, Sjirk J ^a   Doody, Daniel P ^a   Bauer, Stuart B ^a   Lee, Richard S ^a   Adam, Rosalyn M ^a   Lu, Weining ^l   Reutter, Heiko M ^m   Kehinde, Elijah O ⁿ   Mancini, Erika J ^o,p   Lifton, Richard P ^q,r   Tasic, Velibor ^s   Lienkamp, Soeren S ^e,t   Jüppner, Harald ^a   Kispert, Andreas ^c   Hildebrandt, Friedhelm ^a,r   more..

^a HARVARD MEDICAL SCHOOL   (United States)

^b SHEBA MEDICAL CENTER   (Israel)

^c HANNOVER MEDICAL SCHOOL   (Germany)

^d KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^e UNIVERSITY OF FREIBURG   (Germany)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^g UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^h Och Spine at New York Presbyterian Hospitals   (United States)

ⁱ UNIVERSITY OF MANCHESTER   (United Kingdom)

^j LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^k NEWCASTLE UNIVERSITY   (United Kingdom)

^l BOSTON UNIVERSITY MEDICAL CENTER   (United States)

^m UNIVERSITY OF BONN   (Germany)

ⁿ KUWAIT UNIVERSITY   (Kuwait)

^o UNIVERSITY OF OXFORD   (United Kingdom)

^p UNIVERSITY OF SUSSEX   (United Kingdom)

^q YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^r HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^s UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^t UNIVERSITY OF FREIBURG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; T BOX TRANSCRIPTION FACTOR 18; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; T BOX TRANSCRIPTION FACTOR; TBX18 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; EXOME; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HUMAN CELL; KIDNEY MALFORMATION; MESENCHYME CELL; ORGANOGENESIS; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN DNA INTERACTION; SMOOTH MUSCLE FIBER; URETER; URETER DEVELOPMENT; URETEROPELVIC JUNCTION OBSTRUCTION; URINARY TRACT MALFORMATION; CONGENITAL MALFORMATION; DNA SEQUENCE; DOMINANT GENE; EMBRYOLOGY; FLUORESCENCE MICROSCOPY; GEL MOBILITY SHIFT ASSAY; GENE EXPRESSION REGULATION; GENETICS; HEK293 CELL LINE; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SMOOTH MUSCLE; URINARY TRACT;

BASE SEQUENCE; ELECTROPHORETIC MOBILITY SHIFT ASSAY; EXOME; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, DOMINANT; HEK293 CELLS; HUMANS; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUSCLE, SMOOTH; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; T-BOX DOMAIN PROTEINS; URETER; URINARY TRACT;

EID: 84938954472     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.07.001     Document Type: Article

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