Genetics of human Bardet-Biedl syndrome, an updates

Identification of Compound Heterozygous Mutations in theBBS7Gene in a Korean Family with Bardet-Biedl Syndrome

(2015) Seok Joon Shin et al.   Annals of Laboratory Medicine

Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery

(2015) Marine Barbelanne et al.   HUMAN MOLECULAR GENETICS

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort

(2014) C. Sathya Priya et al.   CLINICAL GENETICS

Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

(2014) J.-J. Braun et al.   CLINICAL GENETICS

Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations inBBS1,BBS10andBBS12genes

(2014) M. Álvarez-Satta et al.   CLINICAL GENETICS

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

(2014) M. A. Aldahmesh et al.   HUMAN MOLECULAR GENETICS

Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

(2014) Zohreh Fattahi et al.   JOURNAL OF HUMAN GENETICS

Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing

(2014) Dong-Jun Xing et al.   PLoS One

Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome

(2013) Danielle D. Brinckman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

(2013) O. M'hamdi et al.   CLINICAL GENETICS

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients withLZTFL1(BBS17) mutations

(2013) E. Schaefer et al.   CLINICAL GENETICS

Carrier frequency of twoBBS2mutations in the Ashkenazi population

(2013) A. Fedick et al.   CLINICAL GENETICS

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet–Biedl syndrome in a Pakistani family

(2013) Zehra Agha et al.   GENE

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunitBBIP1(BBS18)

(2013) Sophie Scheidecker et al.   JOURNAL OF MEDICAL GENETICS

Genotype-Phenotype Correlations in Bardet-Biedl Syndrome

(2012) Anthony B. Daniels et al.   ARCHIVES OF OPHTHALMOLOGY

Bardet–Biedl syndrome

(2012) Elizabeth Forsythe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet–Biedl syndrome

(2012) Saadullah Khan et al.   GENE

Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

(2012) Vincent Marion et al.   JOURNAL OF MEDICAL GENETICS

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

(2012) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

The BBSome controls IFT assembly and turnaround in cilia

(2012) Qing Wei et al.   NATURE CELL BIOLOGY

Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly

(2012) Gail Billingsley et al.   OPHTHALMIC GENETICS

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

(2011) P. R. Pretorius et al.   HUMAN MOLECULAR GENETICS

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

(2011) Catherine Deveault et al.   HUMAN MUTATION

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

(2011) Corey L. Williams et al.   JOURNAL OF CELL BIOLOGY

Patients with Bardet-Biedl Syndrome Have Hyperleptinemia Suggestive of Leptin Resistance

(2011) Penelope P. Feuillan et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption

(2011) Vincent Marion et al.   KIDNEY INTERNATIONAL

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

(2011) Audrey Putoux et al.   PEDIATRIC NEPHROLOGY

Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting

(2011) A. L. D. Tadenev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies

(2011) A. Mockel et al.   PROGRESS IN RETINAL AND EYE RESEARCH

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

(2011) Seongjin Seo et al.   PLoS Genetics

Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome

(2010) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: No clues for modulation by a third mutation in BBS10

(2010) Eelco Dulfer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A founder mutation inBBS2is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

(2010) AM Innes et al.   CLINICAL GENETICS

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

(2010) O. Imhoff et al.   Clinical Journal of the American Society of Nephrology

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

(2010) Elise Schaefer et al.   European Journal of Medical Genetics

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

(2010) Sabine Janssen et al.   HUMAN GENETICS

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

(2010) Jean Muller et al.   HUMAN GENETICS

Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes

(2010) Tina Duelund Hjortshøj et al.   HUMAN MUTATION

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

(2010) Anneke I. den Hollander et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

(2010) G. Billingsley et al.   JOURNAL OF MEDICAL GENETICS

BBS10 mutations are common in 'Meckel'-type cystic kidneys

(2010) A. Putoux et al.   JOURNAL OF MEDICAL GENETICS

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

(2010) Su Kyoung Kim et al.   SCIENCE

Making sense of cilia in disease: The human ciliopathies

(2009) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component

(2009) Elena Kudryashova et al.   HUMAN MOLECULAR GENETICS

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

(2009) Rachaneekorn Tammachote et al.   HUMAN MOLECULAR GENETICS

TRIM32 is an E3 ubiquitin ligase for dysbindin

(2009) Matthew Locke et al.   HUMAN MOLECULAR GENETICS

BBS7andTTC8(BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

(2009) Jenea Bin et al.   HUMAN MUTATION

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

(2009) N. J. Bialas et al.   JOURNAL OF CELL SCIENCE

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

(2009) H. M. Harville et al.   JOURNAL OF MEDICAL GENETICS

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping

(2009) L. Abu Safieh et al.   JOURNAL OF MEDICAL GENETICS

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

(2009) L. de Pontual et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

(2009) Vincent Marion et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel mutations inBBS5highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients

(2008) Tina Duelund Hjortshøj et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands

(2008) T D. Hjortshoj et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation

(2008) Alexander V. Loktev et al.   DEVELOPMENTAL CELL

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

(2008) Joon Kim et al.   HUMAN MOLECULAR GENETICS

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

(2008) Kamal Rahmouni et al.   JOURNAL OF CLINICAL INVESTIGATION

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS

Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells

(2008) Young-Goo Han et al.   NATURE NEUROSCIENCE

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

(2008) J. L. Tobin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

(2008) N. F. Berbari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Retinal morphology in patients with BBS1 and BBS10 related Bardet–Biedl Syndrome evaluated by Fourier-domain optical coherence tomography

(2007) Christina Gerth et al.   VISION RESEARCH