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Page 1
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S. Lopez-Rivera E, et al. Among authors: salomon r. N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25. N Engl J Med. 2017. PMID: 28121514 Free PMC article.
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
Jeanpierre C, Macé G, Parisot M, Morinière V, Pawtowsky A, Benabou M, Martinovic J, Amiel J, Attié-Bitach T, Delezoide AL, Loget P, Blanchet P, Gaillard D, Gonzales M, Carpentier W, Nitschke P, Tores F, Heidet L, Antignac C, Salomon R; Société Française de Foetopathologie. Jeanpierre C, et al. Among authors: salomon r. J Med Genet. 2011 Jul;48(7):497-504. doi: 10.1136/jmg.2010.088526. Epub 2011 Apr 13. J Med Genet. 2011. PMID: 21490379 Free article.
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT).
Renkema KY, Winyard PJ, Skovorodkin IN, Levtchenko E, Hindryckx A, Jeanpierre C, Weber S, Salomon R, Antignac C, Vainio S, Schedl A, Schaefer F, Knoers NV, Bongers EM; EUCAKUT consortium. Renkema KY, et al. Among authors: salomon r. Nephrol Dial Transplant. 2011 Dec;26(12):3843-51. doi: 10.1093/ndt/gfr655. Nephrol Dial Transplant. 2011. PMID: 22121240 Review.
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C. Humbert C, et al. Among authors: salomon r. Am J Hum Genet. 2014 Feb 6;94(2):288-94. doi: 10.1016/j.ajhg.2013.12.017. Epub 2014 Jan 16. Am J Hum Genet. 2014. PMID: 24439109 Free PMC article.
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Failler M, Gee HY, Krug P, Joo K, Halbritter J, Belkacem L, Filhol E, Porath JD, Braun DA, Schueler M, Frigo A, Alibeu O, Masson C, Brochard K, Hurault de Ligny B, Novo R, Pietrement C, Kayserili H, Salomon R, Gubler MC, Otto EA, Antignac C, Kim J, Benmerah A, Hildebrandt F, Saunier S. Failler M, et al. Among authors: salomon r. Am J Hum Genet. 2014 Jun 5;94(6):905-14. doi: 10.1016/j.ajhg.2014.05.002. Epub 2014 May 29. Am J Hum Genet. 2014. PMID: 24882706 Free PMC article.
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
Bizet AA, Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, Halbritter J, Delous M, Lasbennes MC, Linghu B, Oakeley EJ, Zarhrate M, Nitschké P, Garfa-Traore M, Serluca F, Yang F, Bouwmeester T, Pinson L, Cassuto E, Dubot P, Elshakhs NAS, Sahel JA, Salomon R, Drummond IA, Gubler MC, Antignac C, Chibout S, Szustakowski JD, Hildebrandt F, Lorentzen E, Sailer AW, Benmerah A, Saint-Mezard P, Saunier S. Bizet AA, et al. Among authors: salomon r. Nat Commun. 2015 Oct 21;6:8666. doi: 10.1038/ncomms9666. Nat Commun. 2015. PMID: 26487268 Free PMC article.
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: salomon r. 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.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C. Heidet L, et al. Among authors: salomon r. J Am Soc Nephrol. 2017 Oct;28(10):2901-2914. doi: 10.1681/ASN.2017010043. Epub 2017 May 31. J Am Soc Nephrol. 2017. PMID: 28566479 Free PMC article.
683 results