Last update 01 Nov 2024

BBS10

Last update 01 Nov 2024

Basic Info

Synonyms

Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10 protein, BBS10

+ [2]

Introduction

Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184).

Drugs associated with BBS10

AAV8-RK-BBS10

Target

BBS10

Mechanism

BBS10 modulators

Active Org.

MeiraGTx UK II Ltd.

Originator Org.

MeiraGTx UK II Ltd.

Active Indication

Bardet-Biedl Syndrome

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with BBS10

100 Translational Medicine associated with BBS10

0 Patents (Medical) associated with BBS10

Literatures (Medical) associated with BBS10

01 Feb 2024·Prenatal Diagnosis

The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction

Article

Author: Miller, Jena L ; Norton, Mary E ; Jelin, Angie C ; Alkuraya, Fowzan S ; Shamseldin, Hanan ; Lianoglou, Billie ; Baker, Linda A ; Sparks, Teresa N ; Hays, Thomas ; Blakemore, Karin ; Miller, Kristen A ; Hertenstein, Christine ; Brar, Bobby K ; Dukhovny, Stephanie ; Maddirevula, Sateesh ; Wapner, Ronald

AbstractObjectiveFetal megacystis generally presents as suspected lower urinary tract obstruction (LUTO), which is associated with severe perinatal morbidity. Genetic etiologies underlying LUTO or a LUTO—like initial presentation are poorly understood. Our objectives are to describe single gene etiologies in fetuses initially ascertained to have suspected LUTO and to elucidate genotype‐phenotype correlations.MethodsA retrospective case series of suspected fetal LUTO positive for a molecular diagnosis was collected from five centers in the Fetal Sequencing Consortium. Demographics, sonograms, genetic testing including variant classification, and delivery outcomes were abstracted.ResultsSeven cases of initially prenatally suspected LUTO‐positive for a molecular diagnosis were identified. In no case was the final diagnosis established as urethral obstruction that is, LUTO. All variants were classified as likely pathogenic or pathogenic. Smooth muscle deficiencies involving the bladder wall and interfering with bladder emptying were identified in five cases: MYOCD (2), ACTG2 (2), and MYH11 (1). Other genitourinary and/or non‐genitourinary malformations were seen in two cases involving KMT2D (1) and BBS10 (1).ConclusionOur series illustrates the value of molecular diagnostics in the workup of fetuses who present with prenatally suspected LUTO but who may have a non‐LUTO explanation for their prenatal ultrasound findings.

03 Jan 2024·Journal of Animal Science

Integration of multi-omics reveals the important role of the BBS10 gene in reproduction

Article

Author: Feng, Pingjie ; Pan, Zhangyuan ; Zhang, Guoqing ; Li, Xinyue ; Chu, Mingxing ; Wang, Shoufeng ; Shi, Jianxin ; Li, Hao

AbstractBlood samples are easily obtained from sheep. Therefore, blood analysis can be a convenient method for evaluating reproductive traits in sheep by detecting genetic and metabolic changes in the ovary. By combining 167 RNA sequencing data and 60 untargeted metabolomics data, this study analyzed the relationship between genes and metabolites in the ovary and blood. The conjoint KEGG enrichment analysis enriched glutathione (GSH) metabolic pathways both in the ovary and blood. This finding provides an explanation for possible GSH metabolic processes in the ovary with metabolite exchange in the blood. The metabolite–gene–disease interaction network revealed a correlation between the expression of certain Bardet–Biedl syndrome (BBS) family genes in the ovary and blood. This indicates that BBS family genes, such as BBS10 in sheep blood, could be a potential biomarker for BBS. We investigated the relationship between BBS10 gene expression in the ovary and lambing numbers using whole-genome sequencing data from 450 ewes. Our findings suggest that g.112314188C>G may lead to decreased litter size in ewes carrying the FecB gene. These single nucleotide polymorphisms could be potential molecular markers for breeding sheep.

01 Jan 2024·American Journal of Medical Genetics Part A

Early development and adaptive functioning in children with Bardet‐Biedl syndrome

Article

Author: Richardson, Jesse G ; Berg, Richard L ; Keifer, Ekaterina ; Haws, Robert M

AbstractThis study had two aims. Aim one investigated achievement of 10 developmental milestones in children with Bardet‐Biedl syndrome (BBS). Aim one data were derived from retrospective responses by caregivers of individuals with BBS who are enrolled in the Clinical Registry Investigating Bardet‐Biedl syndrome (CRIBBS). CRIBBS is a natural history registry acquiring serial observations. Aim two investigated early adaptive skills using the Adaptive Behavior Assessment System (ABAS‐II 0–5) completed by caregivers of children with BBS aged from 0 to 5. There were 652 individuals with milestone information (with some variability based on availability of information for specific milestones), and 101 individuals (including 95 among the 652) with ABAS‐II information. Results revealed wide‐ranging delays in adaptive skills, particularly in the domain of Self‐Care. Expressive language appears to be the most frequently delayed developmental milestone. We found a difference by BBS genotype wherein individuals with BBS1 had higher adaptive/developmental scores than individuals with BBS10. Age also carried a significant association with adaptive skills diverging farther from a normative trajectory as children with BBS progress through early childhood.

Analysis

Perform a panoramic analysis of this field.

view full example data

Chat with Hiro

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

BBS10

Basic Info

Related

Analysis