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The Journal of Clinical Investigation|June 6, 2024
PIK3CA inhibition in models of proliferative glomerulonephritis and lupus nephritisJunna Yamaguchi, Pierre Isnard, Noémie Robil, et al.EMBO Molecular Medicine|November 18, 2018
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiologyAthanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, et al.Journal of Molecular Medicine (Berlin, Germany)|March 8, 2019
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropeniaLaurence Duplomb, Julie Rivière, Gaëtan Jego, et al.Human Molecular Genetics|January 25, 2018
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 dyskinesiaPatrick Lorès, Charles Coutton, Elma El Khouri, et al.American Journal of Human Genetics|November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanismShridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.American Journal of Human Genetics|November 19, 2019
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male InfertilityPatrick Lorès, Denis Dacheux, Zine-Eddine Kherraf, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 2, 2015
Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel FormationClaire Bardet, Frédéric Courson, Yong Wu, et al.Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.Nature Communications|February 17, 2018
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and humanCharles Coutton, Alexandra S Vargas, Amir Amiri-Yekta, et al.The Journal of Clinical Investigation|February 7, 2017
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiencySvjetlana Lovric, Sara Goncalves, Heon Yung Gee, et al.Pageof 8