Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Author:

Otto Edgar A,Schermer Bernhard,Obara Tomoko,O'Toole John F,Hiller Karl S,Mueller Adelheid M,Ruf Rainer G,Hoefele Julia,Beekmann Frank,Landau Daniel,Foreman John W,Goodship Judith A,Strachan Tom,Kispert Andreas,Wolf Matthias T,Gagnadoux Marie F,Nivet Hubert,Antignac Corinne,Walz Gerd,Drummond Iain A,Benzing Thomas,Hildebrandt Friedhelm

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference49 articles.

1. Smith, C. & Graham, J. Congenital medullary cysts of the kidneys with severe refractory anemia. Am. J. Dis. Child. 69, 369–377 (1945).

2. Fanconi, G., Hanhart, E. & Albertini, A. Die familiäre juvenile Nephronophthise. Hel. Pediatr. Acta 6, 1–49 (1951).

3. Hildebrandt, F. Juvenile nephronophthisis. in Pediatric nephrology (eds. Barratt, T.M., Avner, E.D. & Harmon, W.E.) (Williams & Wilkins, Baltimore, 1999).

4. Hildebrandt, F. et al. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat. Genet. 17, 149–153 (1997).

5. Saunier, S. et al. A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum. Mol. Genet. 6, 2317–2323 (1997).

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