Cargando…

A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture

BACKGROUND: The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2. Genetic variation within the CYP19A1 gene sequence has been shown to alter the function of the enzyme. The aim of this study is to investigate whether a no...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Jenny Z, Deogan, Mandeep S, Lewis, Joshua R, Chew, Shelby, Mullin, Ben H, McNab, Tegan J, Wilson, Scott G, Ingley, Evan, Prince, Richard L
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3259055/ https://www.ncbi.nlm.nih.gov/pubmed/22185650 http://dx.doi.org/10.1186/1471-2350-12-165

Ejemplares similares

Blood Pressure Levels in Male Carriers of Arg82Cys in CD300LG
por: Støy, Julie, et al.
Publicado: (2014)

The Arg82Cys Polymorphism of the Protein Nepmucin Implies a Role in HDL Metabolism
por: Metz, Sophia, et al.
Publicado: (2022)

Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein
por: Dominguez-Valentin, Mev, et al.
Publicado: (2014)

The Cys-Arg/N-End Rule Pathway Is a General Sensor of Abiotic Stress in Flowering Plants
por: Vicente, Jorge, et al.
Publicado: (2017)

Interaction of HLA Class II rs9272219 and TMPO rs17028450 (Arg690Cys) Variants Affects Neuromyelitis Optica Spectrum Disorder Susceptibility in an Admixed Mexican Population
por: Rosas-Madrigal, Sandra, et al.
Publicado: (2021)

A novel apolipoprotein E mutation (p.Arg150Cys) in a Chinese patient with lipoprotein glomerulopathy
por: Ku, Ming, et al.
Publicado: (2019)

Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma
por: Marques, Ana Maria, et al.
Publicado: (2018)

CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis
por: Rezkalla, Nader, et al.
Publicado: (2020)

D’ domain region Arg782-Cys799 of von Willebrand factor contributes to factor VIII binding
por: Przeradzka, Małgorzata A., et al.
Publicado: (2020)

Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met)
por: Gucev, Zoran, et al.
Publicado: (2011)

A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene
por: Burget, Lukas, et al.
Publicado: (2018)

A novel fibrinogen mutation: FGA g. 3057 C > T (p. Arg104 > Cys) impairs fibrinogen secretion
por: Marchi, R., et al.
Publicado: (2017)

SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology
por: Castoro, Ryan, et al.
Publicado: (2018)

Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree: A case report
por: Ji, Yubing, et al.
Publicado: (2021)

H Syndrome Presenting with Sinus of Valsalva Aneurysm and Possible Founder Mutation (p.Arg134cys) in Indian Patients
por: Amalnath, Deepak, et al.
Publicado: (2023)

TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study
por: Blaut, Magda A, et al.
Publicado: (2010)

Cys–Cys and Cys–Lys Stapling of Unprotected Peptides Enabled by Hypervalent Iodine Reagents
por: Ceballos, Javier, et al.
Publicado: (2021)

Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene
por: Panmanee, Jiraporn, et al.
Publicado: (2020)

An αA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response
por: Zhang, Li-Yun, et al.
Publicado: (2009)

Contribution of ARLTS1 Cys148Arg (T442C) Variant with Prostate Cancer Risk and ARLTS1 Function in Prostate Cancer Cells
por: Siltanen, Sanna, et al.
Publicado: (2011)

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome
por: Popp, Bernt, et al.
Publicado: (2022)

Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter study
por: Rosenblum, Rachel Chava, et al.
Publicado: (2023)

CYP20-3 deglutathionylates 2-CysPRX A and suppresses peroxide detoxification during heat stress
por: Liu, Wenshan, et al.
Publicado: (2020)

A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
por: Kim, Dae-Seong, et al.
Publicado: (2002)

The Cbr-DPY-10(Arg92Cys) modification is a reliable co-conversion marker for CRISPR/Cas9 genome editing in Caenorhabditis briggsae
por: Toker, Itai Antoine, et al.
Publicado: (2022)

Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration
por: Wang, Yingwei, et al.
Publicado: (2021)

An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree
por: Li, Feng, et al.
Publicado: (2022)

DNA methylation within the I.4 promoter region correlates with CYPl19A1 gene expression in human ex vivo mature omental and subcutaneous adipocytes
por: Lewis, Joshua R, et al.
Publicado: (2013)

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing
por: Maharaj, Avinaash, et al.
Publicado: (2018)

Partial catalytic Cys oxidation of human GAPDH to Cys-sulfonic acid.
por: Lia, Andrea, et al.
Publicado: (2020)

ERCC1 Cys8092Ala and XRCC1 Arg399Gln Polymorphisms Predict Progression-Free Survival after Curative Radiotherapy for Nasopharyngeal Carcinoma
por: Jin, Hekun, et al.
Publicado: (2014)

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis
por: Kanemasa, Hikaru, et al.
Publicado: (2016)

Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study
por: Cerón‐Rodríguez, Magdalena, et al.
Publicado: (2019)

Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in the LIM2 gene in four Chinese families with congenital cataracts
por: Wang, Xun, et al.
Publicado: (2021)

Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate
por: Joshi, Pushpa Raj, et al.
Publicado: (2022)

Apolipoprotein E ε4 Is Associated With the Development of Incident Dementia in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients With p.Arg544Cys Mutation
por: Lee, Jung Seok, et al.
Publicado: (2020)

Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
por: Bezdíčka, Martin, et al.
Publicado: (2021)

A novel apolipoprotein E mutation, ApoE Ganzhou (Arg43Cys), in a Chinese son and his father with lipoprotein glomerulopathy: two case reports
por: Wang, Runxiu, et al.
Publicado: (2022)

Clinical manifestations in a Chinese girl with heterozygous de novo NAA10 variant c. 247C > T, p. (Arg83Cys): a case report
por: Wei, Kaiyan, et al.
Publicado: (2023)

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer
por: Thompson, Deborah J, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_4geig46c0gfhgod8h8i7s8tvrd