Ask about this productRelated genes to: BBS10 Blocking Peptide
- Gene:
- BBS10 NIH gene
- Name:
- Bardet-Biedl syndrome 10
- Previous symbol:
- C12orf58
- Synonyms:
- FLJ23560
- Chromosome:
- 12q21.2
- Locus Type:
- gene with protein product
- Date approved:
- 2006-02-09
- Date modifiied:
- 2019-04-23
Related products to: BBS10 Blocking Peptide
Related articles to: BBS10 Blocking Peptide
- Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by pleiotropic clinical manifestations including retinal degeneration, obesity, polydactyly, intellectual disability, renal abnormalities, and hypogenitalism. Significant genetic heterogeneity exists, with over 20 genes implicated in its pathogenesis. This study provides a comprehensive overview of the genetic mutations identified in a cohort of Iranian patients with BBS. - Source: PubMed
Publication date: 2026/09/15
Khalilian SheydaFathi MohadesehEntezam MonaFarbood ZahraGhafouri-Fard SoudehDastgheib Seyed AlirezaMiryounesi Mohammad - Bardet-Biedl syndrome (BBS) is a syndromic ciliopathy characterized by multiple clinical features, including obesity and kidney disease. Therapeutic options remain limited. Setmelanotide, a melanocortin-4 receptor (MC4R) agonist, is approved for obesity in BBS, but real-world data in adults is scarce. This case highlights the synergistic metabolic and nephroprotective effects of a sequential therapeutic strategy combining a glucagon-like peptide-1 (GLP-1) receptor agonist and a MC4R agonist. - Source: PubMed
Publication date: 2026/09/15
Pasquariello TommasoSecondulfo FlorianaRoscini Anna RitaNardi ElisabettaProsperi EnricoCapasso GiovambattistaPerna Alessandra FZacchia Miriam - Ciliopathies comprise a spectrum of disorders involving mutations in over 150 genes affecting the primary cilium, with retinal degeneration as a prominent feature driven by concomitant developmental and maturation defects in photoreceptors and the retinal pigment epithelium (RPE). Current single-gene-targeted therapeutic approaches are expensive with limited scalability. We hypothesize that downstream of primary cilium dysfunction, mutation-agnostic shared pathways initiate tissue defects. To test this hypothesis, we here develop induced pluripotent stem cell-derived RPE models (iRPE) from nine (BBS1, BBS10, BBS16, CEP290, LCA5, MYO7A, PRPF31) patients with ciliopathy with severe retinal degeneration. Despite heterogeneity in disease severity, consistent with underlying ciliary structural defects, all ciliopathy iRPE exhibit abnormal epithelial polarization and impaired mitochondrial health initiated by dysregulated TGF-β signaling-driven mesenchymal drift. Addressing these gene-agnostic disease phenotypes, our study identifies two drugs, pioglitazone, a mitochondrial metabolic modulator, and galunisertib, a TGFBR1 inhibitor, as potential therapeutic candidates for multiple ciliopathy subtypes. - Source: PubMed
Publication date: 2026/08/28
Reichert DominikGul SenaOrtolan DavideMcGaughey DavidMontford JairRyu JiwonJeffrey Alyssa SLewallen Colby FVeres KatiVillasmil RafaelWhite Carreiro Noor DTsang Stephen HHuryn Laryssa ABrooks Brian PZein WadihMay-Simera Helen LouiseSharma RuchiBharti Kapil - Dental caries (DC), a chronic and multifactorial disease, affects billions of people globally, posing a significant public health challenge. Despite its prevalence, the molecular mechanisms underlying DC and effective pharmacological targets remain elusive. This study leverages Mendelian randomization (MR) and large-scale genomic data to identify potential drug targets for DC. - Source: PubMed
Publication date: 2026/05/18
Bi JunleiLiu AnqiZhang NaChen YuxinLiu ChangqingZhu YongnaWen HebaoMa Caiyun - This study investigated intellectual functioning in individuals with Bardet-Biedl Syndrome (BBS). 96 participants whose retrospective data from intellectual and adaptive skills assessments (Wechsler intelligence scales and Adaptive Behavior Assessment System [ABAS]) included in the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) were analyzed. To obtain a more accurate estimate of intellectual function in the context of vision loss, participants with self-reported legal blindness at the time of assessment and those over the age of 15 were excluded from analyses of visual-spatial skills. For participants for whom a Full-Scale IQ (FSIQ) could be obtained, mean FSIQ was 73.5, 38.3% had a FSIQ of 70 or less. Females had significantly higher FSIQ and visual intellectual skills compared to males. Nearly 60% of participants had verbal intellectual skills in the low average range and above (standard score 80+). Individuals with had significantly stronger verbal intellectual skills compared to individuals with . However, composite adaptive functioning score did not differ between participants with and . While intellectual functioning deficits are relatively common in individuals with BBS, there is a wide range of skill level. The absence of intellectual/cognitive impairment does not preclude a diagnosis of BBS. The lower FSIQ appears to be largely driven by non-verbal skills that rely on vision, which could be contributing to performances even in cases with less severe visual impairment. Individuals with are more likely to have lower verbal intellectual functioning but general adaptive skills were equivalent between the two main BBS subtypes. - Source: PubMed
Publication date: 2026/04/08
Keifer EkaterinaGabor RachelRichardson Jesse GPomeroy JeremyHaws Robert MTucker Ramirez Jessica