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 ...

Peng et al. identify circ_BBS9 as a potential biomarker and therapeutic target in lung adenocarcinoma (LUAD), noting its downregulation in LUAD tissues and association with poor prognosis. Circ_BBS9 ...

Researchers have identified genes that determine human head shape, shedding light on cranial diversity and conditions like craniosynostosis, potentially impacting our understanding of cranial ...

The team showed that variants near three genes associated with vault shape, BMP2, BBS9 and ZIC2, were also associated with craniosynostosis, suggesting that these genes could play a role in the ...

Researchers at the University of Pittsburgh and KU Leuven have discovered a suite of genes that influence head shape in humans. These findings, published this week in Nature Communications, help ...

aDepartment of Pediatrics & Pediatric Endocrinology, Universidad Autónoma de Madrid, University Hospital Niño Jesús, Instituto de Investigación Sanitaria La Princesa, Madrid, Spain ...

Richtsmeier and colleagues demonstrate that chondrocranium and dermatocranium development are associated and that mutations in Fgfr significantly alter skull shape in part via the chondrocranium by ...

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 ...

1114C>T (p.Q372X) in the BBS9 of the two siblings. This variant was confirmed and completely cosegregated with the disease of this family by Sanger sequencing. We report a novel homozygous variant ...