Cargando…

A missense substitution A49T in the steroid 5-alpha-reductase gene (SRD5A2) is not associated with prostate cancer in Finland

Prostatic steroid 5-alpha-reductase gene (SRD5A2) encodes a critical enzyme involved in the conversion of testosterone to dihydrotestosterone. A germline mis-sense substitution (A49T) leads to a variant SRD5A2 protein, which has a 5-fold higher in vitro V (max) than the wild-type protein (Ross et al...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mononen, N, Ikonen, T, Syrjäkoski, K, Matikainen, M, Schleutker, J, Tammela, T L J, Koivisto, P A, Kallioniemi, O P
Formato:	Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2001
Materias:	Regular Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2363646/ https://www.ncbi.nlm.nih.gov/pubmed/11355945 http://dx.doi.org/10.1054/bjoc.2001.1789

Ejemplares similares

Crystal structure of steroid reductase SRD5A reveals conserved steroid reduction mechanism
por: Han, Yufei, et al.
Publicado: (2021)

CHEK2 variants associate with hereditary prostate cancer
por: Seppälä, E H, et al.
Publicado: (2003)

Evidence for an Association between the SRD5A2 (Type II Steroid 5α-Reductase) Locus and Prostate Cancer in Italian Patients
por: Margiotti, K., et al.
Publicado: (2000)

Effects on Steroid 5-Alpha Reductase Gene Expression of Thai Rice Bran Extracts and Molecular Dynamics Study on SRD5A2
por: Khantham, Chiranan, et al.
Publicado: (2021)

Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient
por: Parlak, Mesut, et al.
Publicado: (2014)

Steroid 5 alpha-reductase 3 (SRD5A3) promotes tumor growth and predicts poor survival of human hepatocellular carcinoma (HCC)
por: Mai, Qicong, et al.
Publicado: (2020)

Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency
por: Marzuki, Nanis S., et al.
Publicado: (2019)

Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency
por: Cheng, Tong, et al.
Publicado: (2019)

Cloning, computational analysis and expression profiling of steroid 5 alpha-reductase 1 (SRD5A1) gene during reproductive phases and ovatide stimulation in endangered catfish, Clarias magur
por: Agarwal, Deepak, et al.
Publicado: (2023)

The association of 5-alpha reductase type 2 (SRD5A2) gene polymorphisms with prostate cancer in a Korean population
por: Choi, Se Young, et al.
Publicado: (2015)

Polymorphisms of HPC2/ELAC2 and SRD5A2 (5α-Reductase Type II) Genes in Prostate Cancer
por: İzmirli, M, et al.
Publicado: (2011)

46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene
por: Chávez, Bertha, et al.
Publicado: (2014)

Genotype–Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5α-Reductase Deficiency
por: Gui, Ting, et al.
Publicado: (2022)

The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective
por: Seo, Jieun, et al.
Publicado: (2023)

Molecular Analysis of the SRD5A1 and SRD5A2 Genes in Patients with Benign Prostatic Hyperplasia with Regard to Metabolic Parameters and Selected Hormone Levels
por: Rył, Aleksandra, et al.
Publicado: (2017)

Steroid Metabolism in Children and Adolescents With Obesity and Insulin Resistance: Altered SRD5A and 20α/20βHSD Activity
por: Sumińska, Marta, et al.
Publicado: (2021)

Role of CD5L and SRD5A2 as Prognostic Biomarkers for Hepatocellular Carcinoma
por: Luo, Yunxiu, et al.
Publicado: (2021)

THU183 The Genotype-phenotype Correlation In Human 5α-reductase Type 2 Deficiency: Classified And Analysed From A SRD5A2 Structural Perspective
por: Kwon, Ahreum, et al.
Publicado: (2023)

Adult phenotype and further phenotypic variability in SRD5A3-CDG
por: Kara, Bülent, et al.
Publicado: (2014)

A49T, R227Q and TA repeat polymorphism of steroid 5 alpha-reductase type II gene and Hypospadias risk in North Indian children
por: Samtani, Ratika, et al.
Publicado: (2014)

5-alpha-reductase type I (SRD5A1) is up-regulated in non-small cell lung cancer but does not impact proliferation, cell cycle distribution or apoptosis
por: Kapp, Friedrich G, et al.
Publicado: (2012)

Expression of progesterone metabolizing enzyme genes (AKR1C1, AKR1C2, AKR1C3, SRD5A1, SRD5A2) is altered in human breast carcinoma
por: Lewis, Michael J, et al.
Publicado: (2004)

PALB2 variants in hereditary and unselected Finnish Prostate cancer cases
por: Pakkanen, Sanna, et al.
Publicado: (2009)

AB215. Variants in the SRD5A2 gene are associated with quality of semen
por: Zhao, Dan, et al.
Publicado: (2014)

A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male
por: Dalili, Setilla, et al.
Publicado: (2020)

Over-expression of SRD5A3 and its prognostic significance in breast cancer
por: Zhang, Yong-ping, et al.
Publicado: (2021)

SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype
por: Kamarus Jaman, Nazreen, et al.
Publicado: (2021)

A49T, V89L and TA repeat polymorphisms of steroid 5α-reductase type II and breast cancer risk in Japanese women
por: Yang, Chunxia, et al.
Publicado: (2002)

SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card
por: Jaeken, Jaak, et al.
Publicado: (2020)

Srd5a1 is Differentially Regulated and Methylated During Prepubertal Development in the Ovary and Hypothalamus
por: Bar-Sadeh, Ben, et al.
Publicado: (2023)

SRD: a Staphylococcus regulatory RNA database
por: Sassi, Mohamed, et al.
Publicado: (2015)

Subcellular localization of the five members of the human steroid 5α-reductase family
por: Scaglione, Antonella, et al.
Publicado: (2017)

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency
por: Eren, Erdal, et al.
Publicado: (2016)

Expression of CSF1, AR, and SRD5A2 during Postnatal Development of the Boar Reproductive Tract
por: Katleba, Kimberley, et al.
Publicado: (2022)

Psychological recovery and well-being of spouses of patients with prostate cancer 5 years after primary treatment in Finland: a follow-up survey
por: Lehto, Ulla-Sisko, et al.
Publicado: (2023)

Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride
por: Xiao, Qingpin, et al.
Publicado: (2020)

Structure of human steroid 5α-reductase 2 with anti-androgen drug finasteride
por: Xiao, Qingpin, et al.
Publicado: (2020)

Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing
por: Gupta, Neerja, et al.
Publicado: (2018)

Molecular Characterization of Two Known SRD5A2 Gene Variants in Mexican Patients With Disorder of Sexual Development
por: María Guadalupe, Ortiz-López, et al.
Publicado: (2022)

A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report
por: Nabavizadeh, Sayyed Hesamedin, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_5q9bopvnc32uh1guetoejh5k0c