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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
Grampa V, Delous M, Zaidan M, Odye G, Thomas S, Elkhartoufi N, Filhol E, Niel O, Silbermann F, Lebreton C, Collardeau-Frachon S, Rouvet I, Alessandri JL, Devisme L, Dieux-Coeslier A, Cordier MP, Capri Y, Khung-Savatovsky S, Sigaudy S, Salomon R, Antignac C, Gubler MC, Benmerah A, Terzi F, Attié-Bitach T, Jeanpierre C, Saunier S. Grampa V, et al. Among authors: gubler mc. PLoS Genet. 2016 Mar 11;12(3):e1005894. doi: 10.1371/journal.pgen.1005894. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 26967905 Free PMC article.
Podocin localizes in the kidney to the slit diaphragm area.
Roselli S, Gribouval O, Boute N, Sich M, Benessy F, Attié T, Gubler MC, Antignac C. Roselli S, et al. Among authors: gubler mc. Am J Pathol. 2002 Jan;160(1):131-9. doi: 10.1016/S0002-9440(10)64357-X. Am J Pathol. 2002. PMID: 11786407 Free PMC article.
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T. Karmous-Benailly H, et al. Among authors: gubler mc. Am J Hum Genet. 2005 Mar;76(3):493-504. doi: 10.1086/428679. Epub 2005 Jan 21. Am J Hum Genet. 2005. PMID: 15666242 Free PMC article.
290 results