Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.Y199F
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AKR1B1

NM_001628.4:p.Y199F

Associated Papers

AR-V7 exhibits non-canonical mechanisms of nuclear import and chromatin engagement in castrate-resistant prostate cancer.

Kim S et al.

Elife, 2022

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity.

Lim WF et al.

Science Advances, 2021

Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.

Nagaraja MR et al.

Systems Biology in Reproductive Medicine, 2019

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.

Lucas-Herald A et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Targeting chromatin binding regulation of constitutively active AR variants to overcome prostate cancer resistance to endocrine-based therapies.

Chan SC et al.

Nucleic Acids Research, 2015

Phenotype, hormonal profile and genotype of subjects with partial androgen insensitivity syndrome: report of a family with four adult males and one child with disorder of sexual differentiation.

Kulshreshtha B et al.

Andrologia, 2009

RNA editing of androgen receptor gene transcripts in prostate cancer cells.

Martinez HD et al.

The Journal of Biological Chemistry, 2008

Wild-type but not mutant androgen receptor inhibits expression of the hTERT telomerase subunit: a novel role of AR mutation for prostate cancer development.

Moehren U et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008

The molecular basis of androgen insensitivity.

Nitsche EM et al.

Hormone Research, 2000

The androgen receptor gene mutations database.

Patterson MN et al.

Nucleic Acids Research, 1994

Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity.

Akella RR

Indian Journal of Endocrinology and Metabolism, 0

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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."