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Nature Communications|November 7, 2014
Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodentsJantje M Gerdes, Sonia Christou-Savina, Yan Xiong, et al.Journal of the American Society of Nephrology : JASN|September 24, 2016
Risk Factors for Severe Renal Disease in Bardet-Biedl SyndromeElizabeth Forsythe, Kathryn Sparks, Sunayna Best, et al.Plos Genetics|March 17, 2017
COLEC10 is mutated in 3MC patients and regulates early craniofacial developmentMustafa M Munye, Anna Diaz-Font, Louise Ocaka, et al.Journal of Cell Science|February 26, 2005
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesisJun Chul Kim, Young Y Ou, Jose L Badano, et al.Human Genetics|November 6, 2010
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individualsSabine Janssen, Gokul Ramaswami, Erica E Davis, et al.Human Molecular Genetics|November 2, 2014
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathiesRanad Shaheen, Miriam Schmidts, Eissa Faqeih, et al.Nature Genetics|October 2, 2007
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt responseJantje M Gerdes, Yangfan Liu, Norann A Zaghloul, et al.American Journal of Human Genetics|April 5, 2003
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndromePhilip L Beales, Jose L Badano, Alison J Ross, et al.The Journal of Clinical Endocrinology and Metabolism|April 27, 2026
Endocrine Characteristics in Bardet Biedl Syndrome from a Large Single-Centre Paediatric Multidisciplinary ClinicRachel S Varughese, Divya Pujari, Elizabeth Hatton, et al.Nature Genetics|April 27, 2004
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progressionJun Chul Kim, Jose L Badano, Sonja Sibold, et al.Pageof 11