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Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8 (show ADCY8 Proteins), KCNK9 (show KCNK9 Proteins)) and subcutaneous (MLLT10 (show MLLT10 Proteins)/DNAJC1 (show DNAJC1 Proteins)/EBLN1 (show EBLN2 Proteins)) fat, and confirmed a locus (THNSL2 (show THNSL2 Proteins)) previously reported to be associated with abdominal fat in women
BBS9/PTHB1 gene mutations have been shown to be associated with Bardet Biedl syndrome and to the best of our knowledge this study reports the first Pakistani family linked to the BBS9 gene.
BBS9 has four folded domains, based on structure prediction; the N-terminal domain is a beta (show SUCLA2 Proteins)-propeller.
we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS (show BBS2 Proteins) genes (BBS3, BBS9, BBS10 (show BBS10 Proteins) and BBS2 (show BBS2 Proteins)) compared to worldwide (BBS1 (show BBS1 Proteins) and 10) reports.
The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration.
Robust associations with nonsyndromic sagittal craniosynostosis were found in a 120-kb region downstream of BMP2 (show BMP2 Proteins) flanked by rs1884302 and rs6140226 and within a 167-kb region of BBS9 between rs10262453 and rs17724206.
Human BBS9 mRNA rescues bbs9 knockdown phenotype in the zebrafish.
gene is interrupted by a t(1;7)(q42;p15 (show CDKN2B Proteins)) breakpoint associated with Wilms' tumour; new alternately spliced isoforms were found in a wide range of adult and foetal tissues
Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene.
PTHB1 is strongly associated with POF (show POF1B Proteins), and ht1 confers susceptibility to POF (show POF1B Proteins)
Knockdown of Bbs9 in mouse IMCD3 cells results in the absence of cilia.
This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified.
Bardet-Biedl syndrome 9
, parathyroid hormone-responsive B1
, bardet-biedl syndrome 9
, PTH-responsive osteosarcoma B1 protein
, bardet-Biedl syndrome 9 protein
, parathyroid hormone-responsive B1 gene protein
, protein PTHB1
, EST 3159894
, bardet-Biedl syndrome 9 protein homolog
, parathyroid hormone-responsive B1 gene protein homolog