Research By Disease – CheckOrphan

Disease: Bardet-Biedl syndrome 1

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
Chlamydomonas LZTFL1 mediates phototaxis via controlling BBSome recruitment to the basal body and its reassembly at the ciliary tip
RPI-1 (human DCDC2) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in C. elegans
A Case of Laurence Moon Bardet Biedl Syndrome
A cilia-independent function of BBSome mediated by DLK-MAPK signaling in C. elegans photosensation
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity
A review of standardized high-throughput cardiovascular phenotyping with a link to metabolism in mice
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
Association of circulating miRNAS in patients with Alstrőm and Bardet-Biedl syndromes with clinical course parameters
Bangladeshi Case Series of Bardet-Biedl Syndrome
Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population
Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members
Bardet-Biedl Syndrome Presenting in Adulthood
Bardet-Biedl syndrome proteins modulate the release of bioactive extracellular vesicles
Bardet-Biedl Syndrome With Renal, Cardiac, and Genitourinary Malformations: A Case Report
Bardet-Biedl syndrome: a case series
Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins
BBS genes are involved in accelerated proliferation and early differentiation of BBS-related tissues
BBS4 protein has basal body/ciliary localization in sensory organs but extra-ciliary localization in oligodendrocytes during human development
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome
Burden of hyperphagia and obesity in Bardet-Biedl syndrome: a multicountry survey
Carbamazepine drug effect simulating biochemical central hypothyroidism in a patient with Bardet-Biedl syndrome
Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
Central precocious puberty occurring in Bardet-Biedl syndrome-10 as a method for self-protection of human reproductive function: A case report
Cilia-associated wound repair mediated by IFT88 in retinal pigment epithelium
Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice
Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor
Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10
Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report
Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders
De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1
Definable somatic disorders in overweight children and adolescents
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations
Diabetes mellitus in Bardet Biedl syndrome
Differential Diagnosis and Prognosis of Fetuses with Bilateral Enlarged, Hyperechogenic Kidneys: Renal Volume and Amniotic Fluid Volume with Advancing Gestation
Diffusion tensor imaging for the study of early renal dysfunction in patients affected by bardet-biedl syndrome
Disruption of dopamine receptor 1 localization to primary cilia impairs signaling in striatal neurons
Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period
Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1)
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
Fetal ciliopathies: a retrospective observational single-center study
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population
Genetic predisposition to tinnitus in the UK Biobank population
Genetics of Obesity in Humans: A Clinical Review
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
Joubert syndrome: Molecular basis and treatment
Laparoscopic Sleeve Gastrectomy in a Morbidly Obese Pediatric Patient With Bardet-Biedl Syndrome
Leucine zipper transcription factor-like 1 (LZTFL1), an intraflagellar transporter protein 27 (IFT27) associated protein, is required for normal sperm function and male fertility
Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval
Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition
Lymphocyte Polarization During Immune Synapse Assembly: Centrosomal Actin Joins the Game
Metabolic consequences of skeletal muscle- and liver-specific BBSome deficiency
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation
Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families
Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations
Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review
Obesity induces resistance to central action of BMP8B through a mechanism involving the BBSome
Outcomes in children of women with type 2 diabetes exposed to metformin versus placebo during pregnancy (MiTy Kids): a 24-month follow-up of the MiTy randomised controlled trial
Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes
POMC Neuron BBSome Regulation of Body Weight is Independent of its Ciliary Function
Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generationsequencing
Prenatal diagnosis of Bardet Biedl Syndrome: A case report
Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1
Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration
Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India
Sleep and physical activity patterns in adults and children with Bardet-Biedl syndrome
STORM imaging reveals the spatial arrangement of transition zone components and IFT particles at the ciliary base in Tetrahymena
Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1
T cell-specific deficiency in BBSome component BBS1 interferes with selective immune responses
The actin-bundling protein Fascin-1 modulates ciliary signalling
The Bardet-Biedl syndrome complex component BBS1 controls T cell polarity during immune synapse assembly
The BBSome regulates mitochondria dynamics and function
The BBSome restricts entry of tagged carbonic anhydrase 6 into the cis-flagellum of Chlamydomonas reinhardtii
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies
The efficacy and safety of setmelanotide in individuals with Bardet-Biedl syndrome or Alström syndrome: Phase 3 trial design
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts
TRIM32: A Multifunctional Protein Involved in Muscle Homeostasis, Glucose Metabolism, and Tumorigenesis
TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice
Two novel variants in a Bardet-Biedl syndrome type 5 patient with severe renal phenotype
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients
Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins
Vangl2 participates in the primary ciliary assembly under low fluid shear stress in hUVECs
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants
Weight loss with glucagon-like peptide-1 receptor agonists in Bardet-Biedl syndrome