Cargando…

Common Genetic Variants of the Human Steroid 21-Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels

PURPOSE: Systematic evaluation of the potential relationship between the common genetic variants of CYP21A2 and hormone levels. METHODS: The relationships of CYP21A2 intron 2 polymorphisms and haplotypes with diverse baseline and stimulated blood hormone levels were studied in 106 subjects with non-...

Descripción completa

Detalles Bibliográficos
Autores principales:	Doleschall, Márton, Szabó, Julianna Anna, Pázmándi, Júlia, Szilágyi, Ágnes, Koncz, Klára, Farkas, Henriette, Tóth, Miklós, Igaz, Péter, Gláz, Edit, Prohászka, Zoltán, Korbonits, Márta, Rácz, Károly, Füst, George, Patócs, Attila
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4161435/ https://www.ncbi.nlm.nih.gov/pubmed/25210767 http://dx.doi.org/10.1371/journal.pone.0107244

Ejemplares similares

Both Positive and Negative Selection Pressures Contribute to the Polymorphism Pattern of the Duplicated Human CYP21A2 Gene
por: Szabó, Julianna Anna, et al.
Publicado: (2013)

Intraspecific Evolution of Human RCCX Copy Number Variation Traced by Haplotypes of the CYP21A2 Gene
por: Bánlaki, Zsófia, et al.
Publicado: (2013)

Quantitative PCR from human genomic DNA: The determination of gene copy numbers for congenital adrenal hyperplasia and RCCX copy number variation
por: Doleschall, Márton, et al.
Publicado: (2022)

Integrative analysis of neuroblastoma and pheochromocytoma genomics data
por: Szabó, Peter M, et al.
Publicado: (2012)

Analysis of Circulating MicroRNAs In Vivo following Administration of Dexamethasone and Adrenocorticotropin
por: Igaz, Ivan, et al.
Publicado: (2015)

21-Hydroxylase Deficiency: Newborn Screening in Iran?
por: Mahdieh, Nejat, et al.
Publicado: (2012)

Neonatal mass screening for 21-hydroxylase deficiency
por: Tajima, Toshihiro, et al.
Publicado: (2016)

POR polymorphisms are associated with 21 hydroxylase deficiency
por: Pecori Giraldi, F., et al.
Publicado: (2021)

H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency
por: Nagasaki, Keisuke, et al.
Publicado: (2009)

Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency
por: Anastasovska, Violeta, et al.
Publicado: (2015)

Data on the 21-Hydroxylase deficient CAH patients and the identification of known/novel mutations in CYP21A2 gene
por: Khajuria, Ragini, et al.
Publicado: (2016)

Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome
por: Lendvai, Nikoletta, et al.
Publicado: (2012)

Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency
por: Nermoen, Ingrid, et al.
Publicado: (2009)

Glucocorticoid-Induced Osteoporosis in Children with 21-Hydroxylase Deficiency
por: Ventura, Annamaria, et al.
Publicado: (2013)

Prenatal Diagnosis and Treatment of Steroid 21-Hydroxylase Deficiency
por: Tajima, Toshihiro, et al.
Publicado: (2008)

Monitoring treatment in pediatric patients with 21-hydroxylase deficiency
por: Itonaga, Tomoyo, et al.
Publicado: (2023)

Genotype-phenotype correlation in patients with 21-hydroxylase deficiency
por: Tang, Peng, et al.
Publicado: (2023)

CYP21A2 Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and Function
por: Schubert, Tina, et al.
Publicado: (2022)

Treatment and Outcome of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
por: Lee, Peter A., et al.
Publicado: (2010)

Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)
por: Ishii, Tomohiro, et al.
Publicado: (2015)

Genetic Disruption of 21-Hydroxylase in Zebrafish Causes Interrenal Hyperplasia
por: Eachus, Helen, et al.
Publicado: (2017)

Health problems of adolescent and adult patients with 21-hydroxylase deficiency
por: Tajima, Toshihiro
Publicado: (2018)

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
por: Pignatelli, Duarte, et al.
Publicado: (2019)

The natural history of 21-hydroxylase autoantibodies in autoimmune Addison’s disease
por: Wolff, Anette Boe, et al.
Publicado: (2021)

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe
por: Nowotny, Hanna, et al.
Publicado: (2022)

Steroid 21-hydroxylase gene variants and late-life depression
por: Ancelin, Marie-Laure, et al.
Publicado: (2021)

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population
por: Dumic, Katja K., et al.
Publicado: (2023)

Serum chromogranin A level continuously rises with the progression of type 1 diabetes, and indicates the presence of both enterochromaffin‐like cell hyperplasia and autoimmune gastritis
por: Herold, Zoltan, et al.
Publicado: (2020)

High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency
por: Parajes, Silvia, et al.
Publicado: (2008)

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency
por: Coeli, Fernanda B, et al.
Publicado: (2010)

Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient
por: Taboas, Melisa, et al.
Publicado: (2013)

Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree
por: Liu, Jia, et al.
Publicado: (2018)

4G/5G polymorphism of PAI-1 gene is associated with multiple organ dysfunction and septic shock in pneumonia induced severe sepsis: prospective, observational, genetic study
por: Madách, Krisztina, et al.
Publicado: (2010)

Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia
por: Kolahdouz, Mahsa, et al.
Publicado: (2015)

Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
por: Pignatelli, Duarte, et al.
Publicado: (2020)

Huge ovarian cyst in a neonate with classical 21-hydroxylase deficiency
por: Abdelmeguid, Yasmine, et al.
Publicado: (2021)

Corticosteroid Biosynthesis Revisited: No Direct Hydroxylation of Pregnenolone by Steroid 21-Hydroxylase
por: Loke, Steffen, et al.
Publicado: (2021)

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach
por: Arriba, María, et al.
Publicado: (2022)

Variation in serum adrenal hormones in female 21-hydroxylase deficient patients
por: Sørensen, Ditte Sofie Dahl, et al.
Publicado: (2022)

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)
por: Ishii, Tomohiro, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_kp1kfupge44sloev1psn6mqkol