Cargando…

A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome

Cockayne syndrome is an autosomal recessive disorder principally characterized by postnatal growth failure and progressive neurological dysfunction, due primarily to mutations in ERCC6 and ERCC8. Here, we report our diagnostic experience for two patients in a Chinese family suspected on clinical gro...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xie, Hua, Li, Xiaoyan, Peng, Jiping, Chen, Qian, Gao, ZhiJie, Song, Xiaozhen, Li, WeiYu, Xiao, Jianqiu, Li, Caihua, Zhang, Ting, Gusella, James F., Zhong, Jianmin, Chen, Xiaoli
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363064/ https://www.ncbi.nlm.nih.gov/pubmed/28333167 http://dx.doi.org/10.1038/srep44271

Ejemplares similares

Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants
por: Duong, Nguyen Thuy, et al.
Publicado: (2022)

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome
por: Taghdiri, Maryam, et al.
Publicado: (2017)

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
por: Chebly, Alain, et al.
Publicado: (2018)

Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient
por: Zhang, Qin, et al.
Publicado: (2019)

Intragenic β-synuclein rearrangements in malignancy
por: Xiao, Peifang, et al.
Publicado: (2023)

Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome
por: Wu, Shuiyan, et al.
Publicado: (2020)

Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family
por: He, Chunxia, et al.
Publicado: (2017)

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)

Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
por: Duong, Nguyen Thuy, et al.
Publicado: (2022)

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
por: Chikhaoui, Asma, et al.
Publicado: (2022)

Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia
por: Takahashi, Nobutaka, et al.
Publicado: (2023)

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B
por: Zayoud, Khouloud, et al.
Publicado: (2021)

Cockayne syndrome
por: Khan, Firosh, et al.
Publicado: (2008)

Associations of individual and joint expressions of ERCC6 and ERCC8 with clinicopathological parameters and prognosis of gastric cancer
por: Chen, Jing, et al.
Publicado: (2021)

Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants
por: Wegert, Jenny, et al.
Publicado: (2018)

Pseudopapilledema in Cockayne syndrome
por: Brodsky, Michael C., et al.
Publicado: (2021)

Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding ERCC6 Gene in a Taiwanese Boy with Cockayne Syndrome
por: Lin, Ching-Ming, et al.
Publicado: (2021)

Genetic Diagnosis of Cockayne Syndrome
por: Patel, Rifali
Publicado: (2020)

Cockayne Syndrome Misdiagnosed as Cerebral Palsy
por: VAFAEE, Amiereza, et al.
Publicado: (2018)

Xeroderma pigmentosum-Cockayne syndrome complex
por: Natale, Valerie, et al.
Publicado: (2017)

Xeroderma pigmentosum-Cockayne syndrome complex
por: Dev, Nishanth, et al.
Publicado: (2020)

Diagnostic and severity scores for Cockayne syndrome
por: Spitz, M. A., et al.
Publicado: (2021)

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease
por: Saredi, S., et al.
Publicado: (2012)

Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer
por: Moslehi, Roxana, et al.
Publicado: (2020)

Epistatic SNP interaction of ERCC6 with ERCC8 and their joint protein expression contribute to gastric cancer/atrophic gastritis risk
por: Jing, Jing-Jing, et al.
Publicado: (2017)

Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review
por: Kou, Yao, et al.
Publicado: (2018)

High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic
por: Vasickova, Petra, et al.
Publicado: (2007)

Regulation of the Intranuclear Distribution of the Cockayne Syndrome Proteins
por: Iyama, Teruaki, et al.
Publicado: (2018)

ERCC1 and ERCC2 Variants Predict Survival in Gastric Cancer Patients
por: Li, Yangkai, et al.
Publicado: (2013)

ERCC1 and ERCC2 Haplotype Modulates Induced BPDE-DNA Adducts in Primary Cultured Lymphocytes
por: Lu, Xiaobo, et al.
Publicado: (2013)

The Association of ERCC1 and ERCC5 Polymorphisms with Lung Cancer Risk in Han Chinese
por: Lan, Xueling, et al.
Publicado: (2022)

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A
por: Wang, Xiaozhu, et al.
Publicado: (2017)

Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements
por: Schieffer, Kathleen M., et al.
Publicado: (2023)

Analysis of reassortant and intragenic recombination in Cypovirus
por: Zhang, Zhendong, et al.
Publicado: (2020)

The role of Cockayne Syndrome Protein B in transcription regulation
por: Jeong, Jieun
Publicado: (2014)

Cockayne syndrome with intracranial calcification, hypomyelination, and cerebral atrophy
por: James, Joe, et al.
Publicado: (2017)

A C. elegans model for neurodegeneration in Cockayne syndrome
por: Lopes, Amanda F C, et al.
Publicado: (2020)

Hepatic Failure following Metronidazole in Children with Cockayne Syndrome
por: Ataee, Pedram, et al.
Publicado: (2020)

Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome
por: Crochemore, Clément, et al.
Publicado: (2023)

Expression and Clinical Significance of ERCC1 and XPF in Human Hepatocellular Carcinoma
por: Liao, Xiaoli, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_vn957hvce5eg9ev17mdonijm76