Cargando…

Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree with Early-Onset Gout

Gout is a common inflammatory arthritis triggered by monosodium urate deposition after longstanding hyperuricemia. In the general community, the disease is largely polygenic in genetic architecture, with many polymorphisms having been identified in gout or urate-associated traits. In a small proport...

Descripción completa

Detalles Bibliográficos
Autores principales:	Huang, Xiu-Feng, Sun, Li, Zhang, Chunwu, Zhou, Zhenni, Chen, Hui, Zhang, Linhua, Brown, Matthew A., Xia, Xiaoru
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013288/ https://www.ncbi.nlm.nih.gov/pubmed/32090094 http://dx.doi.org/10.1155/2020/4321419

Ejemplares similares

Unraveling the genetic causes in large pedigrees with gout by whole-exome sequencing
por: Xia, Xiaoru, et al.
Publicado: (2020)

Whole-Exome Sequencing Identifies a Novel CPT2 Mutation in a Pedigree With Gout
por: Guo, Yong, et al.
Publicado: (2022)

Corrigendum: Whole-exome sequencing identifies a novel CPT2 mutation in a pedigree with gout
por: Guo, Yong, et al.
Publicado: (2022)

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation
por: Malakootian, Mahshid, et al.
Publicado: (2022)

A common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility
por: Nakayama, Akiyoshi, et al.
Publicado: (2013)

Whole-exome sequencing of a pedigree segregating asthma
por: DeWan, Andrew T, et al.
Publicado: (2012)

Exome Sequencing of a Multigenerational Human Pedigree
por: Hedges, Dale, et al.
Publicado: (2009)

A Pedigree with c.179 Cytosine to Threonine Missense Mutation of SLC12A3 Gene Presenting Gitelman's Syndrome
por: Kim, Yaerim, et al.
Publicado: (2016)

Correction: Exome Sequencing of a Multigenerational Human Pedigree
por: Hedges, Dale J., et al.
Publicado: (2009)

Deep phenotyping and whole‐exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders
por: Wang, Qingqing, et al.
Publicado: (2022)

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia
por: Nickerson, Sarah L., et al.
Publicado: (2015)

Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism
por: Cunha, Marisa L. R., et al.
Publicado: (2017)

Dysfunctional missense variant of OAT10/SLC22A13 decreases gout risk and serum uric acid levels
por: Higashino, Toshihide, et al.
Publicado: (2020)

Case report: Whole exome sequencing and genome-wide methylation profiling of Czech dysplasia in a Chinese pedigree
por: Zhao, Mengfei, et al.
Publicado: (2023)

Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing
por: Liu, Ying, et al.
Publicado: (2020)

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia
por: Rees, Elliott, et al.
Publicado: (2020)

Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing
por: Corominas, Jordi, et al.
Publicado: (2018)

Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto’s thyroiditis
por: Gong, Licheng, et al.
Publicado: (2018)

Gout inheritance in an extended Chinese family analyzed by whole-exome sequencing: A case-report
por: Yang, Peiqing, et al.
Publicado: (2020)

Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree
por: Zaib, Tahir, et al.
Publicado: (2020)

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies
por: Rehman, Atta Ur, et al.
Publicado: (2021)

Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma
por: Li, Changxing, et al.
Publicado: (2019)

Ultrarare Missense Variants Implicated in Utah Pedigrees Multiply Affected With Schizophrenia
por: Ormond, Cathal, et al.
Publicado: (2023)

A novel EDAR missense mutation identified by whole‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family
por: Zhang, Hongyu, et al.
Publicado: (2021)

Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss
por: Mohammadi-asl, Javad, et al.
Publicado: (2021)

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)
por: Swaika, Abhisek, et al.
Publicado: (2016)

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders
por: Lu, Ting, et al.
Publicado: (2018)

Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report
por: Bryant, Laura, et al.
Publicado: (2019)

Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout
por: Pavelcova, Katerina, et al.
Publicado: (2020)

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree
por: Chen, Yixin, et al.
Publicado: (2018)

Compound heterozygous variants in POR gene identified by whole‐exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency
por: Hao, Chanjuan, et al.
Publicado: (2018)

Retracted: Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree
por: Markers, Disease
Publicado: (2023)

Identification of a low frequency missense mutation in MUC6 contributing to pulmonary artery hypertension by whole-exome sequencing
por: Zou, Lihui, et al.
Publicado: (2018)

Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia
por: Ibrahim, Ali Zaki, et al.
Publicado: (2020)

A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly
por: Yang, Mei, et al.
Publicado: (2022)

Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree
por: Mou, Lijun, et al.
Publicado: (2021)

16. A Challenging Case of Gout
por: Ahmed Syed, Sami, et al.
Publicado: (2017)

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome
por: Micheal, Shazia, et al.
Publicado: (2015)

A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene
por: Zhou, Yunguo, et al.
Publicado: (2023)

Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing
por: Yu, Shanshan, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_2a09s2qth3nmtq40b9o16os3fg