Cargando…

Exome Sequencing of 21 Bardet‐Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians

OBJECTIVE: In an ongoing effort to identify the genetic variation that contributes to obesity in American Indians, known Bardet–Biedl syndrome (BBS) genes were analyzed for an effect on BMI and leptin signaling. METHODS: Potentially deleterious variants (Combined Annotation Dependent Depletion score...

Descripción completa

Detalles Bibliográficos
Autores principales:	Day, Samantha E., Muller, Yunhua L., Koroglu, Cigdem, Kobes, Sayuko, Wiedrich, Kim, Mahkee, Darin, Kim, Hye In, Van Hout, Cris, Gosalia, Nehal, Ye, Bin, Shuldiner, Alan R., Knowler, William C., Hanson, Robert L., Bogardus, Clifton, Baier, Leslie J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048836/ https://www.ncbi.nlm.nih.gov/pubmed/33616283 http://dx.doi.org/10.1002/oby.23115

Ejemplares similares

Identification of genetic variation that determines human trehalase activity and its association with type 2 diabetes
por: Muller, Yunhua L., et al.
Publicado: (2013)

Association Analysis of Variation in/Near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B With Type 2 Diabetes and Related Quantitative Traits in Pima Indians
por: Rong, Rong, et al.
Publicado: (2009)

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)

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)

Variants in ASK1 Are Associated With Skeletal Muscle ASK1 Expression, In Vivo Insulin Resistance, and Type 2 Diabetes in Pima Indians
por: Bian, Li, et al.
Publicado: (2010)

A Genome-Wide Association Study in American Indians Implicates DNER as a Susceptibility Locus for Type 2 Diabetes
por: Hanson, Robert L., et al.
Publicado: (2014)

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

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

Common genetic variation in and near the melanocortin 4 receptor gene (MC4R) is associated with body mass index in American Indian adults and children
por: Muller, Yunhua L., et al.
Publicado: (2014)

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)

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

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)

Strong Parent-of-Origin Effects in the Association of KCNQ1 Variants With Type 2 Diabetes in American Indians
por: Hanson, Robert L., et al.
Publicado: (2013)

Assessing Accuracy of Genotype Imputation in American Indians
por: Malhotra, Alka, et al.
Publicado: (2014)

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)

Lower Metabolic Rate in Individuals Heterozygous for Either a Frameshift or a Functional Missense MC4R Variant
por: Krakoff, Jonathan, et al.
Publicado: (2008)

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)

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)

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)

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

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)

Cannot write session to /tmp/vufind_sessions/sess_rloo13dactjv8te5felpphsj4j