Cargando…

A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family

Detalles Bibliográficos
Autores principales:	Li, Lin, Liu, Wen-Miao, Liu, Mei-Xin, Zheng, Shu-Qi, Zhang, Ji-Xia, Che, Feng-Yuan, Liu, Shi-Guo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2017
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5312231/ https://www.ncbi.nlm.nih.gov/pubmed/26806084 http://dx.doi.org/10.4103/1008-682X.172647

Ejemplares similares

An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome
por: Ha, Thi Minh Thi, et al.
Publicado: (2023)

Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity
por: Akella, Radha Ramadevi
Publicado: (2017)

Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome
por: WANG, SONG, et al.
Publicado: (2016)

A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome
por: Yuan, Shi-Min, et al.
Publicado: (2018)

A Novel Mutation of Androgen Receptor Gene in Complete Androgen Insensitivity Syndrome
por: Narumi, Satoshi, et al.
Publicado: (2007)

A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome
por: Ding, Leilei, et al.
Publicado: (2023)

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene
por: Känsäkoski, Johanna, et al.
Publicado: (2016)

A missense mutation in Lama3 causes androgen alopecia
por: Ji, Zhong-Hao, et al.
Publicado: (2023)

Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report
por: Wang, Ka-Na, et al.
Publicado: (2021)

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels
por: Yuan, Yuan, et al.
Publicado: (2022)

The challenges of androgen insensitivity syndrome
por: Ovidiu, Bratu, et al.
Publicado: (2021)

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene
por: Lucas-Herald, A., et al.
Publicado: (2016)

Comment on “Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management”
por: Balsamo, Antonio, et al.
Publicado: (2014)

Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome
por: Villagomez, Daniel A.F., et al.
Publicado: (2020)

A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation
por: Hornig, Nadine C., et al.
Publicado: (2016)

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty
por: Koçyiğit, Cemil, et al.
Publicado: (2016)

Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine
por: Sirokha, Dmytro, et al.
Publicado: (2020)

Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients
por: Liu, Qingxu, et al.
Publicado: (2020)

Response to: Comment on “Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management”
por: Laganà, Antonio Simone, et al.
Publicado: (2014)

Genetic analysis of a family with complete androgen insensitivity syndrome
por: Kota, Sunil Kumar, et al.
Publicado: (2013)

Embryonal carcinoma in androgen insensitivity syndrome
por: Barmon, Debabrata, et al.
Publicado: (2011)

Androgen insensitivity syndrome: a review
por: Batista, Rafael Loch, et al.
Publicado: (2018)

A promoting role of androgen receptor in androgen-sensitive and -insensitive prostate cancer cells
por: Li, Tzu-Huey, et al.
Publicado: (2007)

An infertile man with gynecomastia caused by a novel mutation of the androgen receptor gene
por: Xu, Hui-Ying, et al.
Publicado: (2015)

Androgen Receptor Mutations Associated with Androgen Insensitivity Syndrome: A High Content Analysis Approach Leading to Personalized Medicine
por: Szafran, Adam T., et al.
Publicado: (2009)

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family
por: Petroli, Reginaldo J, et al.
Publicado: (2011)

Refinement of the androgen response element based on ChIP-Seq in androgen-insensitive and androgen-responsive prostate cancer cell lines
por: Wilson, Stephen, et al.
Publicado: (2016)

Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism
por: Konrade, Ilze, et al.
Publicado: (2019)

Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices
por: Lek, Ngee, et al.
Publicado: (2018)

The Worldwide Landscape of Variants in the Androgen Receptor Gene Related to Androgen Insensitivity Syndrome: An Integrative Analysis
por: Batista, Rafael Loch, et al.
Publicado: (2021)

Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique
por: Wang, Hao, et al.
Publicado: (2019)

Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene
por: Vaidyanathan, Priya, et al.
Publicado: (2018)

Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and Their Molecular Characteristics
por: Malcher, Agnieszka, et al.
Publicado: (2019)

Complete Androgen Insensitivity Syndrome in Three Sisters
por: Verim, Levent
Publicado: (2014)

Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia
por: Lee, Sung Won, et al.
Publicado: (2015)

An Early Case of Complete Androgen Insensitivity Syndrome
por: Matalka, Leen, et al.
Publicado: (2023)

Growth Curves of Chinese Children with Androgen Insensitivity Syndrome: A Multicenter Registry Study
por: Zhao, Xiu, et al.
Publicado: (2022)

Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome
por: Nam, Hyoun, et al.
Publicado: (2015)

Differences of adrenal‐derived androgens in 5α‐reductase deficiency versus androgen insensitivity syndrome
por: Han, Bing, et al.
Publicado: (2021)

THU209 Small INDELs In The Androgen Receptor Gene: Phenotype Implications And Mechanisms Of Mutagenesis In Androgen Insensitivity Syndrome
por: Batista, Rafael Loch, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_f7r783hvdvguim8f5k40kb1llb