Cargando…

The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome

Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS patients lack AR mutations, which complicates the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ilaslan, Erkut, Markosyan, Renata, Sproll, Patrick, Stevenson, Brian J., Sajek, Malgorzata, Sajek, Marcin P., Hayrapetyan, Hasmik, Sarkisian, Tamara, Livshits, Ludmila, Nef, Serge, Jaruzelska, Jadwiga, Kusz-Zamelczyk, Kamila
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664851/ https://www.ncbi.nlm.nih.gov/pubmed/33182400 http://dx.doi.org/10.3390/ijms21218403

Ejemplares similares

Emerging Roles of NANOS RNA-Binding Proteins in Cancer
por: Ilaslan, Erkut, et al.
Publicado: (2022)

Human NANOS1 Represses Apoptosis by Downregulating Pro-Apoptotic Genes in the Male Germ Cell Line
por: Janecki, Damian M., et al.
Publicado: (2020)

Distinct Roles of NANOS1 and NANOS3 in the Cell Cycle and NANOS3-PUM1-FOXM1 Axis to Control G2/M Phase in a Human Primordial Germ Cell Model
por: Ilaslan, Erkut, et al.
Publicado: (2022)

Role of PUM RNA-Binding Proteins in Cancer
por: Smialek, Maciej J., et al.
Publicado: (2021)

Characterization of RNP Networks of PUM1 and PUM2 Post-Transcriptional Regulators in TCam-2 Cells, a Human Male Germ Cell Model
por: Smialek, Maciej J., et al.
Publicado: (2020)

A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9
por: Sirokha, Dmytro, et al.
Publicado: (2021)

RNAlign2D: a rapid method for combined RNA structure and sequence-based alignment using a pseudo-amino acid substitution matrix
por: Woźniak, Tomasz, et al.
Publicado: (2021)

T-psi-C: user friendly database of tRNA sequences and structures
por: Sajek, Marcin Piotr, et al.
Publicado: (2020)

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

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

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

Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome
por: WANG, SONG, 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)

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)

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

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)

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)

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 missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family
por: Li, Lin, et al.
Publicado: (2017)

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)

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

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

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)

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)

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)

FKBP51 and FKBP52 regulate androgen receptor dimerization and proliferation in prostate cancer cells
por: Maeda, Keisuke, et al.
Publicado: (2021)

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)

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

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)

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)

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

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

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)

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)

Occurrence of testicular microlithiasis in androgen insensitive hypogonadal mice
por: O'Shaughnessy, Peter J, et al.
Publicado: (2009)

Genotype and phenotype of Vietnamese patients with androgen insensitivity syndrome
por: Dung, Vu Chi, et al.
Publicado: (2013)

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients
por: Yuan, Shi-Min, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_0268jmf53r34civ1ajn974dfql