Cargando…

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy that affects multiple organs, leading to retinitis pigmentosa, polydactyly, obesity, renal anomalies, cognitive impairment, and hypogonadism. Until now, biallelic pathogenic variants have been identified in at least 24 genes delineatin...

Descripción completa

Detalles Bibliográficos
Autores principales:	Karam, Adella, Delvallée, Clarisse, Estrada-Cuzcano, Alejandro, Geoffroy, Véronique, Lamouche, Jean-Baptiste, Leuvrey, Anne-Sophie, Nourisson, Elsa, Tarabeux, Julien, Stoetzel, Corinne, Scheidecker, Sophie, Porter, Louise Frances, Génin, Emmanuelle, Redon, Richard, Sandron, Florian, Boland, Anne, Deleuze, Jean-François, Le May, Nicolas, Dollfus, Hélène, Muller, Jean
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218572/ https://www.ncbi.nlm.nih.gov/pubmed/37240074 http://dx.doi.org/10.3390/ijms24108729

Ejemplares similares

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome
por: Schaefer, Elise, et al.
Publicado: (2019)

Clinical sequencing: is WGS the better WES?
por: Meienberg, Janine, et al.
Publicado: (2016)

Accuracy benchmark of the GeneMind GenoLab M sequencing platform for WGS and WES analysis
por: Li, Chaoyang, et al.
Publicado: (2022)

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation
por: Mauring, Laura, et al.
Publicado: (2020)

The AnnotSV webserver in 2023: updated visualization and ranking
por: Geoffroy, Véronique, et al.
Publicado: (2023)

Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders
por: G. C. C. L. Cardenas, Raony, et al.
Publicado: (2017)

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
por: Kröll‐Hermi, Ariane, et al.
Publicado: (2020)

AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
por: Geoffroy, Véronique, et al.
Publicado: (2021)

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10
por: Grudzinska Pechhacker, Monika K., et al.
Publicado: (2021)

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
por: Laugel-Haushalter, Virginie, et al.
Publicado: (2018)

Using the Sankey diagram to visualize article features on the topics of whole-exome sequencing (WES) and whole-genome sequencing (WGS) since 2012: Bibliometric analysis
por: Li, Meng-Ju, et al.
Publicado: (2022)

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
por: Stoetzel, Corinne, et al.
Publicado: (2016)

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice
por: Cognard, Noëlle, et al.
Publicado: (2015)

Matched Whole-Genome Sequencing (WGS) and Whole-Exome Sequencing (WES) of Tumor Tissue with Circulating Tumor DNA (ctDNA) Analysis: Complementary Modalities in Clinical Practice
por: Imperial, Robin, et al.
Publicado: (2019)

Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12)
por: Álvarez-Satta, María, et al.
Publicado: (2017)

Westfield College: WES-POP
Publicado: (1975)

Westfield-College : Wes-pop
Publicado: (1975)

Further adventures of Jimmy and Wes
Publicado: (1993)

Paramecium BBS genes are key to presence of channels in Cilia
por: Valentine, Megan Smith, et al.
Publicado: (2012)

The diagnostic yield of CGH and WES in neurodevelopmental disorders
por: Alotibi, Raniah S., et al.
Publicado: (2023)

Behavioral Phenotyping of Bbs6 and Bbs8 Knockout Mice Reveals Major Alterations in Communication and Anxiety
por: Rödig, Nathalie, et al.
Publicado: (2022)

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations
por: Kantaputra, Piranit, et al.
Publicado: (2022)

The study of a total and two hypothalamic-specific BBS10 knockout models highlights the importance of systemic inactivation in the obese phenotype in Bardet Biedl Syndrome
por: Scerbo, M, et al.
Publicado: (2015)

BBS proteins run an export business
por: Short, Ben
Publicado: (2009)

Selection of SNP subsets for association studies in candidate genes: comparison of the power of different strategies to detect single disease susceptibility locus effects
por: Cousin, Emmanuelle, et al.
Publicado: (2006)

GT-WGS: an efficient and economic tool for large-scale WGS analyses based on the AWS cloud service
por: Wang, Yiqi, et al.
Publicado: (2018)

BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors
por: Xu, Qingwen, et al.
Publicado: (2015)

Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model
por: Cring, Matthew R., et al.
Publicado: (2022)

Indikationsprüfung bei Patienten in Intensiv-WGs
por: Lux, Eberhard Albert, et al.
Publicado: (2021)

Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice
por: Chamling, Xitiz, et al.
Publicado: (2013)

Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?
por: Diderich, Karin, et al.
Publicado: (2019)

WGS to predict antibiotic MICs for Neisseria gonorrhoeae
por: Eyre, David W., et al.
Publicado: (2017)

The question of WGS’s clinical utility remains unanswered
por: Battke, Florian, et al.
Publicado: (2021)

Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES
por: Brozou, Triantafyllia, et al.
Publicado: (2017)

Complete Genome Sequences of Bacillus Bacteriophages Wes44 and Carmen17
por: Alder, Haley, et al.
Publicado: (2019)

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders
por: Gao, Chao, et al.
Publicado: (2019)

Functional modelling of a novel mutation in BBS5
por: Al-Hamed, Mohamed H, et al.
Publicado: (2014)

ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing
por: Kaplun, Ludmila, et al.
Publicado: (2023)

WGS Analysis of Clonal and Plasmidic Epidemiology of Colistin-Resistance Mediated by mcr Genes in the Poultry Sector in Lebanon
por: Al-Mir, Hiba, et al.
Publicado: (2021)

Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility
por: Okutman, Ozlem, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_68e7kt48cvbck0ed2fc4sta1sl