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Page 1
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.
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
Stoupa A, Adam F, Kariyawasam D, Strassel C, Gawade S, Szinnai G, Kauskot A, Lasne D, Janke C, Natarajan K, Schmitt A, Bole-Feysot C, Nitschke P, Léger J, Jabot-Hanin F, Tores F, Michel A, Munnich A, Besmond C, Scharfmann R, Lanza F, Borgel D, Polak M, Carré A. Stoupa A, et al. Among authors: schmitt a. EMBO Mol Med. 2018 Dec;10(12):e9569. doi: 10.15252/emmm.201809569. EMBO Mol Med. 2018. PMID: 30446499 Free PMC article.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Touré A, Legendre M. Whitfield M, et al. Among authors: schmitt a. Am J Hum Genet. 2019 Jul 3;105(1):198-212. doi: 10.1016/j.ajhg.2019.04.015. Epub 2019 Jun 6. Am J Hum Genet. 2019. PMID: 31178125 Free PMC article.
Genesis of muscle fiber-type diversity during mouse embryogenesis relies on Six1 and Six4 gene expression.
Richard AF, Demignon J, Sakakibara I, Pujol J, Favier M, Strochlic L, Le Grand F, Sgarioto N, Guernec A, Schmitt A, Cagnard N, Huang R, Legay C, Guillet-Deniau I, Maire P. Richard AF, et al. Among authors: schmitt a. Dev Biol. 2011 Nov 15;359(2):303-20. doi: 10.1016/j.ydbio.2011.08.010. Epub 2011 Aug 22. Dev Biol. 2011. PMID: 21884692 Free article.
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Lorès P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A. Lorès P, et al. Among authors: schmitt a. Hum Mol Genet. 2018 Apr 1;27(7):1196-1211. doi: 10.1093/hmg/ddy034. Hum Mol Genet. 2018. PMID: 29365104 Clinical Trial.
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.
Duplomb L, Rivière J, Jego G, Da Costa R, Hammann A, Racine J, Schmitt A, Droin N, Capron C, Gougerot-Pocidalo MA, Dubrez L, Aral B, Lafon A, Edery P, Ghoumid J, Blair E, El Chehadeh-Djebbar S, Carmignac V, Thevenon J, Guy J, Girodon F, Bastie JN, Delva L, Faivre L, Thauvin-Robinet C, Solary E. Duplomb L, et al. Among authors: schmitt a. J Mol Med (Berl). 2019 May;97(5):633-645. doi: 10.1007/s00109-019-01754-4. Epub 2019 Mar 7. J Mol Med (Berl). 2019. PMID: 30843084
Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation.
Chatzifrangkeskou M, Yadin D, Marais T, Chardonnet S, Cohen-Tannoudji M, Mougenot N, Schmitt A, Crasto S, Di Pasquale E, Macquart C, Tanguy Y, Jebeniani I, Pucéat M, Morales Rodriguez B, Goldmann WH, Dal Ferro M, Biferi MG, Knaus P, Bonne G, Worman HJ, Muchir A. Chatzifrangkeskou M, et al. Among authors: schmitt a. Hum Mol Genet. 2018 Sep 1;27(17):3060-3078. doi: 10.1093/hmg/ddy215. Hum Mol Genet. 2018. PMID: 29878125 Free PMC article.
1,853 results