Cargando…

Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by mottled hyperpigmented and hypopigmented macules. SASH1 and ABCB6 have been identified as the causative genes for this disorder. We performed whole exome sequencing on a Chinese family with DUH and genotype-phenot...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wu, Nan, Tang, Lili, Li, Xiuxiu, Dai, Yuwei, Zheng, Xiaodong, Gao, Min, Wang, Peiguang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7417341/ https://www.ncbi.nlm.nih.gov/pubmed/32849825 http://dx.doi.org/10.3389/fgene.2020.00841

Ejemplares similares

Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria
por: Liu, Jia‐Wei, et al.
Publicado: (2021)

Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria
por: Cao, Lu, et al.
Publicado: (2021)

Dyschromatosis universalis hereditaria with involvement of palms
por: Naveen, Kikkeri Narayanshetty, et al.
Publicado: (2014)

Dyschromatosis Universalis Hereditaria with Renal Failure
por: Rojhirunsakool, Salinee, et al.
Publicado: (2015)

Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India
por: Yadalla, Hari Kishan Kumar, et al.
Publicado: (2013)

A Case of Sporadic Dyschromatosis Universalis Hereditaria
por: An, Je Min, et al.
Publicado: (2015)

Uncovering a new SASH1 mutation associated with dyschromatosis universalis hereditaria using whole-exome-sequencing: A case report
por: Yang, Yue, et al.
Publicado: (2023)

Dyschromatosis Universalis Hereditaria with Hypospadias: A Rare Association
por: Sirka, Chandra Sekhar, et al.
Publicado: (2020)

A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association
por: Kumar, Sumir, et al.
Publicado: (2015)

Novel Mutations of ABCB6 Associated with Autosomal Dominant Dyschromatosis Universalis Hereditaria
por: Cui, Ying-Xia, et al.
Publicado: (2013)

A novel mutation in ABCB6 associated with dyschromatosis universalis hereditaria in a Saudi family
por: Aldokhayel, Sara, et al.
Publicado: (2021)

Sporadic Dyschromatosis Universalis Hereditaria: A Second Case Report From Iran
por: Dogohar, Sasan, et al.
Publicado: (2021)

Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria
por: Kobayashi, Tomoko, et al.
Publicado: (2018)

Removal of forearm lentigines in dyschromatosis universalis hereditaria with a 755-nm Q-switched alexandrite laser
por: Li, Yiming, et al.
Publicado: (2017)

Dyschromatosis Symmetrica Hereditaria of Late Onset?
por: Gaiewski, Caroline Balvedi, et al.
Publicado: (2014)

Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria
por: Liu, Hong, et al.
Publicado: (2014)

Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism
por: Al-Saif, Fahad, et al.
Publicado: (2017)

Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria
por: Tang, Zhuang-li, et al.
Publicado: (2018)

Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria
por: Ning, Xiaoying, et al.
Publicado: (2022)

A case of dyschromatosis symmetrica hereditaria with an associated eyelid hemangioma
por: Alshomar, Khalid M., et al.
Publicado: (2021)

Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria
por: Liu, Qi, et al.
Publicado: (2014)

Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China
por: Wang, Peng, et al.
Publicado: (2019)

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene
por: Zhang, Guolong, et al.
Publicado: (2016)

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis
por: Han, Yang, et al.
Publicado: (2020)

A Case Report of Dyschromatosis Symmetrica Hereditaria with Glucose-6-Phosphate Dehydrogenase Deficiency
por: Wang, Panpan, et al.
Publicado: (2023)

Identification of five novel variants of ADAR1 in dyschromatosis symmetrica hereditaria by next-generation sequencing
por: Ma, Qian, et al.
Publicado: (2023)

Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis
por: Liang, Bo, et al.
Publicado: (2022)

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification – Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations
por: Liu, Lingjuan, et al.
Publicado: (2022)

SASH1 is Involved in an Autosomal Dominant Lentiginous Phenotype
por: Shellman, Yiqun G., et al.
Publicado: (2015)

Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock-in mouse model
por: Xu, Zexi, et al.
Publicado: (2020)

Case Report: A Case of Hailey–Hailey Disease Mimicking Condyloma Acuminatum and a Novel Splice-Site Mutation of ATP2C1 Gene
por: Dai, Yuwei, et al.
Publicado: (2021)

Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies
por: Wang, Liang, et al.
Publicado: (2019)

Prognostic significance of downregulated expression of the candidate tumour suppressor gene SASH1 in colon cancer
por: Rimkus, C, et al.
Publicado: (2006)

Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma
por: Li, Yuwei, et al.
Publicado: (2019)

Acquired brachial cutaneous dyschromatosis
por: Everdell, Emily, et al.
Publicado: (2023)

Enfermedades metabólicas hereditarias /
Publicado: (2004)

Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review
por: Yang, Junxing, et al.
Publicado: (2021)

Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia
por: Lv, Shanshan, et al.
Publicado: (2022)

Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families
por: Chen, Moxin, et al.
Publicado: (2022)

Esferocitosis familiar hereditaria : revisión bibliográfica /
por: Santos Cruz, Roberto
Publicado: (1987)

Cannot write session to /tmp/vufind_sessions/sess_97pkqees2vnknf6iob297hfp8q