Cargando…

Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized by the development of hundreds to thousands of colonic adenomas and an increased risk of colorectal cancer. Adenomatous polyposis coli (APC), encoding a large multidomain protein involved in antagonizing the Wnt sig...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Qi, Li, Xiaoxia, Li, Sen, Qu, Shengqiang, Wang, Yu, Tang, Qingzhu, Ma, Hongwei, Luo, Yang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2016
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999466/ https://www.ncbi.nlm.nih.gov/pubmed/27000756 http://dx.doi.org/10.1007/s13277-016-4986-1

Ejemplares similares

APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis
por: Ficari, F, et al.
Publicado: (2000)

Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation
por: Ikenoue, Tsuneo, et al.
Publicado: (2015)

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary
por: Papp, Janos, et al.
Publicado: (2015)

Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis
por: Wang, Dan, et al.
Publicado: (2019)

TALEN-mediated apc mutation in Xenopus tropicalis phenocopies familial adenomatous polyposis
por: Van Nieuwenhuysen, Tom, et al.
Publicado: (2015)

Somatic Mutation of the APC Gene in Thyroid Carcinoma Associated with Familial Adenomatous Polyposis
por: Iwama, Takeo, et al.
Publicado: (1999)

Identification of a novel CNV at the APC gene in a Chinese family with familial adenomatous polyposis
por: Li, Juyi, et al.
Publicado: (2023)

Pathogenic APC Variants in Latvian Familial Adenomatous Polyposis Patients
por: Daneberga, Zanda, et al.
Publicado: (2019)

Wild-type APC Influences the Severity of Familial Adenomatous Polyposis
por: Flisikowski, Krzysztof, et al.
Publicado: (2021)

Immunopurification of adenomatous polyposis coli (APC) proteins
por: Elliott, Kerryn L, et al.
Publicado: (2013)

A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis
por: Pouya, Farzaneh, et al.
Publicado: (2018)

A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review
por: Pang, Minghui, et al.
Publicado: (2018)

A novel APC mosaicism in a patient with familial adenomatous polyposis
por: Iwaizumi, Moriya, et al.
Publicado: (2015)

The Mutation Spectrum and Two Novel Point Mutations in the APC Gene in Vietnamese Patients with Familial Adenomatous Polyposis
por: Nguyen, Bac Hoang, et al.
Publicado: (2022)

T cell migration and effector function differences in familial adenomatous polyposis patients with APC gene mutations
por: Cuche, Céline, et al.
Publicado: (2023)

Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis
por: Schlussel, Andrew T., et al.
Publicado: (2014)

Two different nucleotide substitutions of APC gene in a family with familial adenomatous polyposis
por: Eser, Betul, et al.
Publicado: (2015)

Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours.
por: Giarola, M., et al.
Publicado: (1998)

Analysing the mutational status of adenomatous polyposis coli (APC) gene in breast cancer
por: Chang, Ya-Sian, et al.
Publicado: (2016)

A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli
por: Jiang, Shan-Shan, et al.
Publicado: (2015)

APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.
por: Prosser, J., et al.
Publicado: (1994)

Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families
por: Lin, Yiing, et al.
Publicado: (2015)

Familial adenomatous polyposis
por: Half, Elizabeth, et al.
Publicado: (2009)

Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end
por: Disciglio, Vittoria, et al.
Publicado: (2020)

Genotype–Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis
por: Zhu, Li-Hua, et al.
Publicado: (2023)

Modeling APC mutagenesis and familial adenomatous polyposis using human iPS cells
por: Sommer, Cesar A., et al.
Publicado: (2018)

APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis
por: Stormorken, Astrid Tenden, et al.
Publicado: (2018)

Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis
por: Nieminen, Taina T., et al.
Publicado: (2016)

A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis
por: Wang, Dan, et al.
Publicado: (2017)

An APC Mutation in a Large Chinese Kindred With Familial Adenomatous Polyposis Was Identified Using Both Next Generation Sequencing and Simple STR Marker Haplotypes
por: Zhan, Qitao, et al.
Publicado: (2020)

Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus
por: Kuraguchi, Mari, et al.
Publicado: (2006)

A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis
por: Zhang, Zhao, et al.
Publicado: (2017)

Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam
por: Giang, Hoa, et al.
Publicado: (2018)

Molecular analysis of mutations for the adenomatous polyposis coli (APC) gene in Romanian patients with colorectal cancer
por: Toma, M, et al.
Publicado: (2008)

A novel mutation of adenomatous polyposis coli (APC) gene results in the formation of supernumerary teeth
por: Yu, Fang, et al.
Publicado: (2017)

Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes
por: Forte, Giovanna, et al.
Publicado: (2022)

Familial adenomatous polyposis of the colon
por: Plawski, Andrzej, et al.
Publicado: (2013)

Attenuated Familial Adenomatous Polyposis
por: Eizuka, Makoto, et al.
Publicado: (2023)

A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis
por: Zhang, Zhao, et al.
Publicado: (2016)

Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis
por: Yamaguchi, Kiyoshi, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_8jlbaq12gq12f0uug9j2vu5meq