Consequences of Y chromosome microdeletions beyond male infertility
Purpose The human Y chromosome plays a central role in sex determination and
spermatogenesis. The azoospermia factor (AZF) loci on the Y chromosome contain genes …
spermatogenesis. The azoospermia factor (AZF) loci on the Y chromosome contain genes …
Pathogenic landscape of idiopathic male infertility: new insight towards its regulatory networks
N Kothandaraman, A Agarwal, M Abu-Elmagd… - NPJ genomic …, 2016 - nature.com
Idiopathic male infertility (IMI) affects nearly 10− 15% of men in their prime reproductive age.
More than 500 target genes were postulated to be associated with this disease condition …
More than 500 target genes were postulated to be associated with this disease condition …
Human sperm phosphoproteome reveals differential phosphoprotein signatures that regulate human sperm motility
Human sperm motility is essential for fertilization and among pathologies underlying male
infertility is asthenozoospermia. Nevertheless, mechanisms regulating sperm motility are not …
infertility is asthenozoospermia. Nevertheless, mechanisms regulating sperm motility are not …
Human Y chromosome copy number variation in the next generation sequencing era and beyond
A Massaia, Y Xue - Human Genetics, 2017 - Springer
The human Y chromosome provides a fertile ground for structural rearrangements owing to
its haploidy and high content of repeated sequences. The methodologies used for copy …
its haploidy and high content of repeated sequences. The methodologies used for copy …
AZFa microdeletions: occurrence in Chinese infertile men and novel deletions revealed by semiconductor sequencing
XY Liu, HY Zhang, DX Pang, LT Xue, X Yang, YS Li… - Urology, 2017 - Elsevier
Objective To evaluate the frequency of azoospermia factor (AZFa) microdeletions among
infertile men and establish a new high-throughput sequencing method to detect novel …
infertile men and establish a new high-throughput sequencing method to detect novel …
[HTML][HTML] Y chromosome copy number variation and its effects on fertility and other health factors: a review
MJ Rogers - Translational andrology and urology, 2021 - ncbi.nlm.nih.gov
The Y chromosome is essential for testis development and spermatogenesis. It is a
chromosome with the lowest gene density owing to its medium size but paucity of coding …
chromosome with the lowest gene density owing to its medium size but paucity of coding …
Copy number variation and microdeletions of the Y chromosome linked genes and loci across different categories of Indian infertile males
Abstract We analyzed 34 azoospermic (AZ), 43 oligospermic (OS) and 40 infertile males with
normal spermiogram (INS) together with 55 normal fertile males (NFM) from the Indian …
normal spermiogram (INS) together with 55 normal fertile males (NFM) from the Indian …
DYZ1 arrays show sequence variation between the monozygotic males
Background Monozygotic twins (MZT) are an important resource for genetical studies in the
context of normal and diseased genomes. In the present study we used DYZ1, a satellite …
context of normal and diseased genomes. In the present study we used DYZ1, a satellite …
High-throughput screening for spermatogenesis candidate genes in the AZFc region of the Y chromosome by multiplex real time PCR followed by high resolution …
E Alechine, D Corach - PLoS One, 2014 - journals.plos.org
Microdeletions in the AZF region of the Y chromosome are among the most frequent genetic
causes of male infertility, although the specific role of the genes located in this region is not …
causes of male infertility, although the specific role of the genes located in this region is not …
Genome-wide copy number analysis in a family with p. G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher …
AN Araujo, L Moraes, MIC França… - The Journal of …, 2014 - academic.oup.com
Context: Our group described a p. G533C RET gene mutation in a large family with multiple
endocrine neoplasia type 2 syndrome. Clinical heterogeneity, primarily associated with the …
endocrine neoplasia type 2 syndrome. Clinical heterogeneity, primarily associated with the …