Cargando…

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion

Bardet–Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal obesity, rod-cone dystrophy, renal anomalies, postaxial polydactyly, and variable developmental delays. At least 20 genes have been implicated in BBS, and all are involved in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Reiner, Jennifer, Pisani, Laura, Qiao, Wanqiong, Singh, Ram, Yang, Yao, Shi, Lisong, Khan, Wahab A., Sebra, Robert, Cohen, Ninette, Babu, Arvind, Edelmann, Lisa, Jabs, Ethylin Wang, Scott, Stuart A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778042/ https://www.ncbi.nlm.nih.gov/pubmed/29367880 http://dx.doi.org/10.1038/s41525-017-0042-3

Ejemplares similares

Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects
por: Veleri, Shobi, et al.
Publicado: (2012)

Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient
por: Kim, Yong Hoon, et al.
Publicado: (2020)

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)

Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study
por: Manara, Elena, et al.
Publicado: (2019)

Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
por: Forsythe, Elizabeth, et al.
Publicado: (2023)

Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations
por: Suárez-González, Julia, et al.
Publicado: (2021)

Novel homozygous protein‐truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet–Biedl syndrome
por: Tang, Hai‐Yan, et al.
Publicado: (2021)

Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10)
por: Gupta, Neha, et al.
Publicado: (2022)

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

A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome
por: Zhang, Yue, et al.
Publicado: (2021)

Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families
por: AKBAROGHLI, Susan, et al.
Publicado: (2022)

Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins
por: Gupta, Neha, et al.
Publicado: (2022)

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients
por: Hjortshøj, Tina Duelund, et al.
Publicado: (2008)

A novel mutation in BBS7 gene causes Bardet–Biedl syndrome in a Chinese family
por: Yang, Zhenglin, et al.
Publicado: (2008)

Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
por: Shin, Seok Joon, et al.
Publicado: (2015)

A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina
por: Bolch, Susan N., et al.
Publicado: (2016)

Identification of a Novel Homozygous Mutation in BBS10 Gene in an Iranian Family with Bardet-Biedl Syndrome
por: Dehani, Mohammad, et al.
Publicado: (2021)

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition
por: Masek, Markus, et al.
Publicado: (2022)

Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet–Biedl Syndrome Type I (BBS1) due to Missense Mutation
por: Yan, Kai, et al.
Publicado: (2022)

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
por: Keppler-Noreuil, Kim M, et al.
Publicado: (2011)

Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome
por: Huang, Li, et al.
Publicado: (2021)

Ocular Characteristics of Patients With Bardet–Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort
por: Meng, Xiaohong, et al.
Publicado: (2021)

A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report
por: Focșa, Ina Ofelia, et al.
Publicado: (2021)

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping
por: Pereiro, Ines, et al.
Publicado: (2010)

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome
por: Ajmal, Muhammad, et al.
Publicado: (2013)

A novel BBS10 mutation identified in a patient with Bardet–Biedl syndrome with a violent emotional outbreak
por: Ohto, Tatsuyuki, et al.
Publicado: (2017)

Exome Sequencing of 21 Bardet‐Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians
por: Day, Samantha E., et al.
Publicado: (2021)

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome
por: Dehghan, Roghayeh, et al.
Publicado: (2022)

Bardet–Biedl Syndrome in an Ethiopian
por: Tsegaw, Asamere, et al.
Publicado: (2021)

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)

Cone Photoreceptor Degeneration and Neuroinflammation in the Zebrafish Bardet-Biedl Syndrome 2 (bbs2) Mutant Does Not Lead to Retinal Regeneration
por: Song, Ping, et al.
Publicado: (2020)

Bardet-Biedl and Alström syndromes in Spain
por: Valverde, D, et al.
Publicado: (2012)

Bardet–Biedl syndrome: beyond the cilium
por: Tobin, Jonathan L., et al.
Publicado: (2007)

Kidney failure in Bardet–Biedl syndrome
por: Meyer, Jennifer R., et al.
Publicado: (2022)

Bardet–Biedl Syndrome Presenting in Adulthood
por: Ankleshwaria, Chinmay, et al.
Publicado: (2022)

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome
por: Khan, Muzammil Ahmad, et al.
Publicado: (2016)

Bardet-Biedl Syndrome-associated Small GTPase ARL6 (BBS3) Functions at or near the Ciliary Gate and Modulates Wnt Signaling
por: Wiens, Cheryl J., et al.
Publicado: (2010)

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome
por: Bee, Yong Mong, et al.
Publicado: (2015)

Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet–Biedl Syndrome
por: Marchese, Emanuela, et al.
Publicado: (2022)

Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members
por: Simičić Majce, Ana, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_rvqem7v4i05d356pngmr4qfs8s