Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN12
Variant:p.T89M
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SEPTIN12

NM_144605.5:p.T89M

Associated Papers

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects.

Chen KR et al.

Frontiers in Cell and Developmental Biology, 2024

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.

Quarantani G et al.

Plos One, 2023

Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects.

Li Y et al.

Human Reproduction (oxford, England), 2021

SEPTIN12 c.474 G > A polymorphism as a risk factor in teratozoospermic patients.

Özkara G et al.

Molecular Biology Reports, 2021

Testis-Specific SEPT12 Expression Affects SUN Protein Localization and is Involved in Mammalian Spermiogenesis.

Yeh CH et al.

International Journal of Molecular Sciences, 2019

Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene with spermatogenesis failure in male idiopathic infertility in Northeast China.

Geng D et al.

The Journal of International Medical Research, 2019

Septins: Active GTPases or just GTP-binding proteins?

Abbey M et al.

Cytoskeleton (hoboken, N.j.), 2019

Human male infertility and its genetic causes.

Miyamoto T et al.

Reproductive Medicine and Biology, 2017

SEPT12/SPAG4/LAMINB1 complexes are required for maintaining the integrity of the nuclear envelope in postmeiotic male germ cells.

Yeh CH et al.

Plos One, 2015

Higher-order septin assembly is driven by GTP-promoted conformational changes: evidence from unbiased mutational analysis in Saccharomyces cerevisiae.

Weems AD et al.

Genetics, 2014

SEPT12 mutations cause male infertility with defective sperm annulus.

Kuo YC et al.

Human Mutation, 2012

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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."