Varaico: Literature-Extracted Genetic Variants

Gene:NR1I2
Variant:p.A370T
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NR1I2

NM_003889.4:p.A370T

Associated Papers

Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations.

Hegazi MA et al.

Anais Brasileiros De Dermatologia, 2017

A comprehensive analysis and functional characterization of naturally occurring non-synonymous variants of nuclear receptor PXR.

Rana M et al.

Biochimica Et Biophysica Acta, 2016

Tryptophan 299 is a conserved residue of human pregnane X receptor critical for the functional consequence of ligand binding.

Banerjee M et al.

Biochemical Pharmacology, 2016

Role of pregnane X receptor in chemotherapeutic treatment.

Zhuo W et al.

Cancer Chemotherapy and Pharmacology, 2014

The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia.

Kaupert LC et al.

Clinical Genetics, 2013

Pregnane X receptor polymorphisms associated with human diseases.

Kotta-Loizou I et al.

Expert Opinion on Therapeutic Targets, 2013

Pharmacogenomics of Cytochrome P450 3A4: Recent Progress Toward the "Missing Heritability" Problem.

Klein K et al.

Frontiers in Genetics, 2013

Frequency of genetic polymorphisms of PXR gene in the Brazilian population.

Moreira RP et al.

Clinics (sao Paulo, Brazil), 2011

PXR: a xenobiotic receptor of diverse function implicated in pharmacogenetics.

Zhang B et al.

Pharmacogenomics, 2008

Sequencing and functional assessment of hPXR (NR1I2) variants in intrahepatic cholestasis of pregnancy.

Owen BM et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2008

Identification of NR1I2 genetic variation using resequencing.

King CR et al.

European Journal of Clinical Pharmacology, 2007

Pregnane X receptor polymorphism affects CYP3A4 induction via a ligand-dependent interaction with steroid receptor coactivator-1.

Lim YP et al.

Pharmacogenetics and Genomics, 2007

Functional characterization of a novel polymorphism of pregnane X receptor, Q158K, in Chinese subjects.

Lim YP et al.

Pharmacogenetics and Genomics, 2005

Functional characterization of four naturally occurring variants of human pregnane X receptor (PXR): one variant causes dramatic loss of both DNA binding activity and the transactivation of the CYP3A4 promoter/enhancer region.

Koyano S et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2004

Natural protein variants of pregnane X receptor with altered transactivation activity toward CYP3A4.

Hustert E et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2001

Hepatic OATP1B transporters and nuclear receptors PXR and CAR: interplay, regulation of drug disposition genes, and single nucleotide polymorphisms.

Meyer zu Schwabedissen HE et al.

Molecular Pharmaceutics, 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."