Varaico: Literature-Extracted Genetic Variants

Gene:CYP11A1
Variant:p.H295R
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CYP11A1

NM_000781.3:p.H295R

Associated Papers

Multimodal Integration of Genomic Data Reveals Regulatory Mechanisms at the Polycystic Ovary Syndrome (PCOS)-Associated 12q13.2 Locus.

Harris RA et al.

International Journal of Molecular Sciences, 2025

Finding Early Biomarkers to Prevent Unfavorable Long-Term Health Outcomes after Premature Adrenarche: A Multicenter Prospective Cohort Study Protocol.

Augsburger P et al.

Hormone Research in Paediatrics, 2025

A Comprehensive Investigation of Steroidogenic Signaling in Classical and New Experimental Cell Models of Adrenocortical Carcinoma.

Sigala S et al.

Cells, 2022

miRNA Profiling Reveals miRNA-130b-3p Mediates DENND1A Variant 2 Expression and Androgen Biosynthesis.

McAllister JM et al.

Endocrinology, 2019

Timeline of Advances in Genetics of Primary Aldosteronism.

Meyer LS et al.

Experientia Supplementum (2012), 2019

Significance of dopamine D1 receptor signalling for steroidogenic differentiation of human induced pluripotent stem cells.

Matsuo K et al.

Scientific Reports, 2017

29123220 (PubMed )
Supplement: 41598_2017_15485_MOESM1_ESM.pdf

Development of monoclonal antibodies against the human 3β-hydroxysteroid dehydrogenase/isomerase isozymes.

Gomez-Sanchez CE et al.

Steroids, 2017

Functional TASK-3-Like Channels in Mitochondria of Aldosterone-Producing Zona Glomerulosa Cells.

Yao J et al.

Hypertension (dallas, Tex. : 1979), 2017

Proximal GATA-binding sites are essential for human HSD3B1 gene transcription in the placenta.

Lai TC et al.

Scientific Reports, 2017

Suppressive effects of RXR agonist PA024 on adrenal CYP11B2 expression, aldosterone secretion and blood pressure.

Suzuki D et al.

Plos One, 2017

Regulation of Corticosteroidogenic Genes by MicroRNAs.

Robertson S et al.

International Journal of Endocrinology, 2017

Intracellular Cholesterol Trafficking and Impact in Neurodegeneration.

Arenas F et al.

Frontiers in Molecular Neuroscience, 2017

Oxysterol-related-binding-protein related Protein-2 (ORP2) regulates cortisol biosynthesis and cholesterol homeostasis.

Escajadillo T et al.

Molecular and Cellular Endocrinology, 2016

Up-regulation of steroid biosynthesis by retinoid signaling: Implications for aging.

Manna PR et al.

Mechanisms of Ageing and Development, 2015

Oxidative stress and adrenocortical insufficiency.

Prasad R et al.

The Journal of Endocrinology, 2014

Regulation of human CYP11B1 and CYP11B2 promoters by transposable elements and conserved cis elements.

Cheng LC et al.

Steroids, 2012

Coactivation of SF-1-mediated transcription of steroidogenic enzymes by Ubc9 and PIAS1.

Suda N et al.

Endocrinology, 2011

RhoA and DIAPH1 mediate adrenocorticotropin-stimulated cortisol biosynthesis by regulating mitochondrial trafficking.

Li D et al.

Endocrinology, 2010

The mediator complex subunit 1 enhances transcription of genes needed for adrenal androgen production.

Nakamura Y et al.

Endocrinology, 2009

Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis.

Xu B et al.

Molecular and Cellular Biology, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."