Hirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the distal colon, leading to functional obstruction. Bardet-Biedl syndrome (BBS) is a rare ...

Peer ReviewDownload a summary of the editorial decision process including editorial decision letters, reviewer comments and author responses to feedback. Bardet-Biedl syndrome (BBS) is a pleiotropic ...

[a ]Department of Gastroenterology, Changzheng Hospital, Naval Medical University, Shanghai 200003, China [b ]Department of Gastroenterology, Gongli Hospital of Shanghai Pudong New Area, Shanghai ...

The BBSome is an octameric protein complex involved in Bardet-Biedl syndrome (BBS), a human pleiotropic, autosomal recessive condition. Patients with BBS display various clinical features including ...

Centriolar satellites are small membrane-less granules that gravitate around the centrosome. Recent advances in defining the satellite proteome and interactome have unveiled hundreds of new satellite ...

Whole exome sequencing analysis revealed five heterozygous genetic variants in BBS1, BBS4, BBS8, MKS1, and CEP290. These genes are involved in the regulation of cilium biogenesis and function. We ...

In this study, we analyze clinical data of BBS patients and corresponding mouse models carrying mutations in Bbs4 or Bbs18. We find that BBS patients have a higher prevalence of certain autoimmune ...

The βICKO mouse results sufficiently addresses the concern of β-cell contribution (with the caveat of the slight time gap of 8wk in Bbs4-/-and approx 12wk in βICKO). 4) Figure 6—figure supplement 1D.

Bbs4-/-islets show delayed vascularization and enlarged capillary diameter in the pancreas and the anterior chamber of the eye upon transplantation.