Genetics of the human Y chromosome and its association with male infertility

S Colaco, D Modi - Reproductive biology and endocrinology, 2018 - Springer
The human Y chromosome harbors genes that are responsible for testis development and
also for initiation and maintenance of spermatogenesis in adulthood. The long arm of the Y …

EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013

C Krausz, L Hoefsloot, M Simoni, F Tüttelmann - Andrology, 2014 - Wiley Online Library
The molecular diagnosis of Y‐chromosomal microdeletions is a common routine genetic test
which is part of the diagnostic workup of azoospermic and severe oligozoospermic men …

Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

Genetics of male infertility: from research to clinic

C Krausz, AR Escamilla, C Chianese - Reproduction, 2015 - rep.bioscientifica.com
Male infertility is a multifactorial complex disease with highly heterogeneous phenotypic
representation and in at least 15% of cases, this condition is related to known genetic …

Spermatogenic failure and the Y chromosome

C Krausz, E Casamonti - Human genetics, 2017 - Springer
The Y chromosome harbors a number of genes essential for testis development and
function. Its highly repetitive structure predisposes this chromosome to deletion/duplication …

[HTML][HTML] Genetic causes of spermatogenic failure

A Massart, W Lissens, H Tournaye… - Asian journal of …, 2012 - ncbi.nlm.nih.gov
Abstract Approximately 10%–15% of couples are infertile, and a male factor is involved in
almost half of these cases. This observation is due in part to defects in spermatogenesis …

[HTML][HTML] Chromosomal disorders and male infertility

GL Harton, HG Tempest - Asian journal of andrology, 2012 - ncbi.nlm.nih.gov
Infertility in humans is surprisingly common occurring in approximately 15% of the
population wishing to start a family. Despite this, the molecular and genetic factors …

Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm

P Navarro-Costa, P Nogueira, M Carvalho… - Human …, 2010 - academic.oup.com
BACKGROUND Successful gametogenesis requires the establishment of an appropriate
epigenetic state in developing germ cells. Nevertheless, an association between abnormal …

Genetic and epigenetic risks of assisted reproduction

Z Jiang, Y Wang, J Lin, J Xu, G Ding… - Best practice & research …, 2017 - Elsevier
Highlights•During ART treatment, gametes and embryos are exposed to non-physiological
processes.•The short-and long-term safety of assisted reproduction is of concern.•There is …

External and genetic conditions determining male infertility

P Kamiński, J Baszyński, I Jerzak… - International Journal of …, 2020 - mdpi.com
We explain environmental and genetic factors determining male genetic conditions and
infertility and evaluate the significance of environmental stressors in shaping defensive …