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Page 1
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T, Badano JL, McCallion AS, Katsanis N, Amiel J. de Pontual L, et al. Among authors: katsanis n. Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13921-6. doi: 10.1073/pnas.0901219106. Epub 2009 Jul 31. Proc Natl Acad Sci U S A. 2009. PMID: 19666486 Free PMC article.
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J. de Pontual L, et al. Among authors: katsanis n. Hum Mutat. 2007 Aug;28(8):790-6. doi: 10.1002/humu.20517. Hum Mutat. 2007. PMID: 17397038
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Zaghloul NA, Liu Y, Gerdes JM, Gascue C, Oh EC, Leitch CC, Bromberg Y, Binkley J, Leibel RL, Sidow A, Badano JL, Katsanis N. Zaghloul NA, et al. Among authors: katsanis n. Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10602-7. doi: 10.1073/pnas.1000219107. Epub 2010 May 24. Proc Natl Acad Sci U S A. 2010. PMID: 20498079 Free PMC article.
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H. Stoetzel C, et al. Among authors: katsanis n. Nat Genet. 2006 May;38(5):521-4. doi: 10.1038/ng1771. Epub 2006 Apr 2. Nat Genet. 2006. PMID: 16582908
Functional modules, mutational load and human genetic disease.
Zaghloul NA, Katsanis N. Zaghloul NA, et al. Among authors: katsanis n. Trends Genet. 2010 Apr;26(4):168-76. doi: 10.1016/j.tig.2010.01.006. Epub 2010 Mar 11. Trends Genet. 2010. PMID: 20226561 Free PMC article. Review.
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T. Putoux A, et al. Among authors: katsanis n. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552264 Free PMC article.
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.
Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P. Chassaing N, et al. Among authors: katsanis n. Genome Res. 2016 Apr;26(4):474-85. doi: 10.1101/gr.196048.115. Epub 2016 Feb 18. Genome Res. 2016. PMID: 26893459 Free PMC article.
311 results