Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.M64I
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SRY

NM_003140.3:p.M64I

Associated Papers

Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY.

Racca JD et al.

The Journal of Biological Chemistry, 2024

Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.

Racca JD et al.

Frontiers in Endocrinology, 2022

Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.

Wang X et al.

Gene, 2018

Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold.

Chen YS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Mammalian testis-determining factor SRY and the enigma of inherited human sex reversal: frustrated induced fit in a bent protein-DNA complex.

Phillips NB et al.

The Journal of Biological Chemistry, 2011

SRY-directed DNA bending and human sex reversal: reassessment of a clinical mutation uncovers a global coupling between the HMG box and its tail.

Li B et al.

Journal of Molecular Biology, 2006

The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9].

Harley VR et al.

Endocrine Reviews, 2003

Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.

Mitchell CL et al.

Molecular Genetics and Metabolism, 2002

Human sex reversal due to impaired nuclear localization of SRY. A clinical correlation.

Li B et al.

The Journal of Biological Chemistry, 2001

Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.

Murphy EC et al.

Journal of Molecular Biology, 2001

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.

Okuhara K et al.

Journal of Human Genetics, 2000

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.

Scherer G et al.

Cytogenetics and Cell Genetics, 1998

Interaction of normal and mutant SRY proteins with DNA.

Rimini R et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 1995

Sex-reversing mutations affect the architecture of SRY-DNA complexes.

Pontiggia A et al.

The Embo Journal, 1994

DNA binding activity of recombinant SRY from normal males and XY females.

Harley VR et al.

Science (new York, N.y.), 1992

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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."