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Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic ...
Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene. [ 4 ] [ 5 ] The expression of the Bardet–Biedl syndrome 9 protein is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones.
Bardet–Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene. [5] [6] [7] This gene encodes a protein that has been directly linked to Bardet–Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene. [5] [6] This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 2. Bardet–Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy ...
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. [ 5 ] [ 6 ] [ 7 ] BBS1 is part of the BBSome complex, which required for ciliogenesis . Mutations in this gene have been observed in patients with the major form (type 1) of Bardet–Biedl syndrome .
71492 Ensembl ENSG00000138686 ENSMUSG00000037325 UniProt Q8IWZ6 Q8K2G4 RefSeq (mRNA) NM_018190 NM_176824 NM_027810 RefSeq (protein) NP_060660 NP_789794 NP_082086 Location (UCSC) Chr 4: 121.82 – 121.87 Mb Chr 3: 36.63 – 36.67 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene. Mutations in this gene are ...
PDD-NOS Pervasive developmental disorder, not otherwise specified: PDD/NOS Pervasive developmental disorder, not otherwise specified: PDS Pokkuri Death Syndrome PE Pulmonary embolism: PKAN Panthothenate kinase-associated neurodegeneration: PLMD Periodic limb movement disorder: PLS Primary lateral sclerosis: PMD Pelizaeus–Merzbacher disease: PML
Bardet-Biedl Syndrome is an autosomal recessive disorder that occurs in about 1 in every 100,000 live births and is due to homozygous mutations in any of the BBS genes other than BBIP1. [4] [2] [1] These mutations often lead to the incorrect formation of the BBSome which then has subsequent effects on cargo trafficking and IFT regulation. [6]