A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships
BJ Houston, A Riera-Escamilla… - Human reproduction …, 2022 - academic.oup.com
BACKGROUND Human male infertility has a notable genetic component, including well-
established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and …
established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and …
Sperm bauplan and function and underlying processes of sperm formation and selection
ME Teves, ERS Roldan - Physiological Reviews, 2022 - journals.physiology.org
The spermatozoon is a highly differentiated and polarized cell, with two main structures: the
head, containing a haploid nucleus and the acrosomal exocytotic granule, and the flagellum …
head, containing a haploid nucleus and the acrosomal exocytotic granule, and the flagellum …
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice
C Tu, J Cong, Q Zhang, X He, R Zheng, X Yang… - The American Journal of …, 2021 - cell.com
Multiple morphological abnormalities of the sperm flagella (MMAF)-induced
asthenoteratozoospermia is a common cause of male infertility. Previous studies have …
asthenoteratozoospermia is a common cause of male infertility. Previous studies have …
The perinuclear theca protein Calicin helps shape the sperm head and maintain the nuclear structure in mice
XZ Zhang, LL Wei, HJ Jin, XH Zhang, SR Chen - Cell reports, 2022 - cell.com
The perinuclear theca (PT) is a cytoskeletal element encapsulating the sperm nucleus;
however, our understanding of the physiological roles of PT in sperm is very limited. We …
however, our understanding of the physiological roles of PT in sperm is very limited. We …
Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders
MS Oud, BJ Houston, L Volozonoka… - Human …, 2021 - academic.oup.com
STUDY QUESTION What are the causative genetic variants in patients with male infertility
due to severe sperm motility disorders? SUMMARY ANSWER We identified high confidence …
due to severe sperm motility disorders? SUMMARY ANSWER We identified high confidence …
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice
C Tan, L Meng, M Lv, X He, Y Sha, D Tang… - The American Journal of …, 2022 - cell.com
Asthenoteratozoospermia, defined as reduced sperm motility and abnormal sperm
morphology, is a disorder with considerable genetic heterogeneity. Although previous …
morphology, is a disorder with considerable genetic heterogeneity. Although previous …
CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis
W Wang, S Tian, H Nie, C Tu, C Liu, Y Li… - Human molecular …, 2021 - academic.oup.com
Asthenoteratospermia is a common cause of male infertility. Recent studies have revealed
that CFAP65 mutations lead to severe asthenoteratospermia due to acrosome hypoplasia …
that CFAP65 mutations lead to severe asthenoteratospermia due to acrosome hypoplasia …
BAG5 regulates HSPA8-mediated protein folding required for sperm head-tail coupling apparatus assembly
S Gan, S Zhou, J Ma, M Xiong, W Xiong, X Fan… - EMBO …, 2024 - embopress.org
Teratozoospermia is a significant cause of male infertility, but the pathogenic mechanism of
acephalic spermatozoa syndrome (ASS), one of the most severe teratozoospermia, remains …
acephalic spermatozoa syndrome (ASS), one of the most severe teratozoospermia, remains …
KATNB1 is a master regulator of multiple katanin enzymes in male meiosis and haploid germ cell development
JEM Dunleavy, AE O'Connor, H Okuda… - …, 2021 - journals.biologists.com
Katanin microtubule-severing enzymes are crucial executers of microtubule regulation.
Here, we have created an allelic loss-of-function series of the katanin regulatory B-subunit …
Here, we have created an allelic loss-of-function series of the katanin regulatory B-subunit …
A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse
Male infertility is a heterogeneous condition of largely unknown etiology that affects at least
7% of men worldwide. Classical genetic approaches and emerging next-generation …
7% of men worldwide. Classical genetic approaches and emerging next-generation …