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Nature|October 2, 2003
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndromeStephen J Ansley, Jose L Badano, Oliver E Blacque, et al.American Journal of Human Genetics|December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel, Jean Muller, Virginie Laurier, et al.Nature Communications|May 25, 2016
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1Shahid Y Khan, Shivakumar Vasanth, Firoz Kabir, et al.Nature Communications|October 16, 2015
RFX transcription factors are essential for hearing in miceRan Elkon, Beatrice Milon, Laura Morrison, et al.Nature Genetics|February 26, 2005
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2Bart L Loeys, Junji Chen, Enid R Neptune, et al.Clinical Genetics|November 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndromeClarisse Delvallée, Samuel Nicaise, Manuela Antin, et al.Cell|May 13, 2004
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease geneJin Billy Li, Jantje M Gerdes, Courtney J Haycraft, et al.Nature Communications|July 21, 2019
ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin responseAdebowale A Adeyemo, Norann A Zaghloul, Guanjie Chen, et al.Nature Genetics|September 20, 2005
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebratesAlison J Ross, Helen May-Simera, Erica R Eichers, et al.American Journal of Physiology. Cell Physiology|August 26, 2011
Genetic deletion of trkB.T1 increases neuromuscular functionSusan G Dorsey, Richard M Lovering, Cynthia L Renn, et al.Pageof 4