Biallelic loss‐of‐function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in …

G Wang, X Zhu, Y Gao, M Lv, K Li, D Tang… - Human …, 2022 - Wiley Online Library
Asthenoteratozoospermia is the primary cause of infertility in humans. However, the genetic
etiology remains largely unknown for those suffering from severe asthenoteratozoospermia …

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

KR Chen, HY Wang, YC Kuo, YC Lo… - Frontiers in Cell and …, 2025 - frontiersin.org
Infertility affects around 8%–12% of reproductive-aged couples and is a major health
concern. Both genetic and environmental factors influence male infertility. SEPTIN12 is a …

SEPT12 mutations cause male infertility with defective sperm annulus

YC Kuo, YH Lin, HI Chen, YY Wang, YW Chiou… - Human …, 2012 - Wiley Online Library
Septins are members of the GTPase superfamily, which has been implicated in diverse
cellular functions including cytokinesis and morphogenesis. Septin 12 (SEPT12) is a testis …

SEPT14 Mutations and Teratozoospermia: Genetic Effects on Sperm Head Morphology and DNA Integrity

YY Wang, TH Lai, MF Chen, HL Lee, PL Kuo… - Journal of clinical …, 2019 - mdpi.com
The main objective of this study was to evaluate the potential genetic effects of SEPT14 on
male infertility through sequencing the SEPT14 coding region. To address this research gap …

SEPTIN12 Genetic Variants Confer Susceptibility to Teratozoospermia

YH Lin, YY Wang, HI Chen, YC Kuo, YW Chiou… - PLoS …, 2012 - journals.plos.org
It is estimated that 10–15% of couples are infertile and male factors account for about half of
these cases. With the advent of intracytoplasmic sperm injection (ICSI), many infertile men …

Single‐nucleotide polymorphism c.474G>A in the SEPT12 gene is a predisposing factor in male infertility

A Rafaee, A Mohseni Meybodi… - Molecular …, 2020 - Wiley Online Library
SEPT12 is a testis‐specific gene involved in the terminal differentiation of male germ cells.
SEPT12 protein is required for sperm head‐tail formation and acts as a fundamental …

Relationship between absence of annulus and asthenozoospermia in Iranian men

H Hosseinifar, M Shafipour, T Modarresi… - Journal of assisted …, 2014 - Springer
Purpose To find a relationship between absence of annulus and asthenozoospermia in
Iranian men. Methods In the present study, semen samples from 100 asthenozoospermic …

Septins as diagnostic markers for a subset of human asthenozoospermia

Y Sugino, K Ichioka, T Soda, M Ihara… - The Journal of …, 2008 - auajournals.org
Purpose: Septins are the major constituents of the annulus, a submembranous ring that
separates the middle and principal pieces of spermatozoa. We previously reported its …

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

D Geng, X Yang, H Zhang, X Liu, Y Yu… - Journal of …, 2019 - journals.sagepub.com
Male infertility is a complex multifactorial disease affecting approximately 10% of couples
who want to have children. Some cases of infertility can be explained by genetic factors …

Absence of annulus in human asthenozoospermia: case report

P Lhuillier, B Rode, D Escalier, P Lores… - Human …, 2009 - academic.oup.com
The annulus is a septin-based ring structure located at the junction of the midpiece (MP) and
the principal piece (PP) of spermatozoa flagellum. In the mouse, deletion of Septin 4, a …