Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice
SY Jiao, YH Yang, SR Chen - Human reproduction update, 2021 - academic.oup.com
BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …
Teratozoospermia: spotlight on the main genetic actors in the human
C Coutton, J Escoffier, G Martinez… - Human reproduction …, 2015 - academic.oup.com
BACKGROUND Male infertility affects> 20 million men worldwide and represents a major
health concern. Although multifactorial, male infertility has a strong genetic basis which has …
health concern. Although multifactorial, male infertility has a strong genetic basis which has …
Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017
N Gatimel, J Moreau, J Parinaud, RD Léandri - Andrology, 2017 - Wiley Online Library
For over 30 years, sperm morphology assessment has been one of the most common tests
in evaluation of fertility. This review examines the clinical relevance of sperm morphology …
in evaluation of fertility. This review examines the clinical relevance of sperm morphology …
Genetic abnormalities leading to qualitative defects of sperm morphology or function
Infertility, defined by the inability of conceiving a child after 1 year is estimated to concern
approximately 50 million couples worldwide. As the male gamete is readily accessible and …
approximately 50 million couples worldwide. As the male gamete is readily accessible and …
[HTML][HTML] Disease gene discovery in male infertility: past, present and future
Identifying the genes causing male infertility is important to increase our biological
understanding as well as the diagnostic yield and clinical relevance of genetic testing in this …
understanding as well as the diagnostic yield and clinical relevance of genetic testing in this …
Genetic aspects of monomorphic teratozoospermia: a review
M De Braekeleer, MH Nguyen, F Morel… - Journal of assisted …, 2015 - Springer
Teratozoospermia is characterized by the presence of spermatozoa with abnormal
morphology over 85% in sperm. When all the spermatozoa display a unique abnormality …
morphology over 85% in sperm. When all the spermatozoa display a unique abnormality …
Genetics of teratozoospermia: Back to the head
J Beurois, C Cazin, ZE Kherraf, G Martinez… - Best practice & research …, 2020 - Elsevier
Spermatozoa are polarized cells with a head and a flagellum joined by the connecting
piece. Head integrity is critical for normal sperm function, and head defects consistently lead …
piece. Head integrity is critical for normal sperm function, and head defects consistently lead …
[HTML][HTML] C. elegans DPY-19 is a C-mannosyltransferase glycosylating thrombospondin repeats
Among the different types of protein glycosylation, C-mannosylation of tryptophan residues
stands out because of the unique linkage formed between sugar and protein. Instead of the …
stands out because of the unique linkage formed between sugar and protein. Instead of the …
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player
T Celse, C Cazin, F Mietton, G Martinez, D Martinez… - Human Genetics, 2021 - Springer
Globozoospermia is a rare phenotype of primary male infertility inducing the production of
round-headed spermatozoa without acrosome. Anomalies of DPY19L2 account for 50–70 …
round-headed spermatozoa without acrosome. Anomalies of DPY19L2 account for 50–70 …
Globozoospermia syndrome: an update
Among the factors involved in male infertility, there is a rare morphology disorder called"
globozoospermia" that is classified into total globozoospermia and partial globozoospermia …
globozoospermia" that is classified into total globozoospermia and partial globozoospermia …