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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: schmitt a. 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.
Essential role for autophagy protein ATG7 in the maintenance of intestinal stem cell integrity.
Trentesaux C, Fraudeau M, Pitasi CL, Lemarchand J, Jacques S, Duche A, Letourneur F, Naser E, Bailly K, Schmitt A, Perret C, Romagnolo B. Trentesaux C, et al. Among authors: schmitt a. Proc Natl Acad Sci U S A. 2020 May 19;117(20):11136-11146. doi: 10.1073/pnas.1917174117. Epub 2020 May 5. Proc Natl Acad Sci U S A. 2020. PMID: 32371487 Free PMC article.
1,793 results