Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations

Nephrology Dialysis Transplantation

Volumn 23, Issue 2, 2008, Pages 777-779

  Hoskins, Bethan E ^a   Cramer II, Carl H ^a   Tasic, Velibor ^b   Kehinde, Elijah O ^c   Ashraf, Shazia ^a   Bogdanovic, Radovan ^d   Hoefele, Julia ^e   Pohl, Martin ^f   Hildebrandt, Friedhelm ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^c KUWAIT UNIVERSITY   (Kuwait)

^d Institute for Mother and Child Health Care   (Serbia)

^e UNIVERSITY OF MUNICH   (Germany)

^f UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EYA1 GENE; GENE; HUMAN; KIDNEY DEVELOPMENT; LETTER; MISSENSE MUTATION; ORGANOGENESIS; PRIORITY JOURNAL; QUESTIONNAIRE; TCF2 GENE; URINARY TRACT MALFORMATION; VESICOURETERAL REFLUX;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; FEMALE; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NUCLEAR PROTEINS; PROTEIN TYROSINE PHOSPHATASES; URINARY TRACT;

EID: 44449157662     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfm685     Document Type: Letter

References (5)

1. Pope JC IV, Brock JW III, Adams MC et al. How they begin and how they end: classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT. J Am Soc Nephrol 1999; 10: 2018-2028
2. Bouchard M. Transcriptional control of kidney development. Differentiation 2004; 72: 295-306
3. Hoskins BE, Thorn A, Scambler PJ et al. Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. Hum Mutat 2003; 22: 151-157
4. Shaw-Smith C. Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. J Med Genet 2006; 43: 545-554
5. Edghill EL, Bingham C, Ellard S et al. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet 2006; 43: 84-90