A systematic review and standardized clinical validity assessment of male infertility genes
MS Oud, L Volozonoka, RM Smits… - Human …, 2019 - academic.oup.com
STUDY QUESTION Which genes are confidently linked to human monogenic male
infertility? SUMMARY ANSWER Our systematic literature search and clinical validity …
infertility? SUMMARY ANSWER Our systematic literature search and clinical validity …
Role of genetics and epigenetics in male infertility
S Gunes, SC Esteves - Andrologia, 2021 - Wiley Online Library
Male infertility is a complex condition with a strong genetic and epigenetic background. This
review discusses the importance of genetic and epigenetic factors in the pathophysiology of …
review discusses the importance of genetic and epigenetic factors in the pathophysiology of …
[HTML][HTML] Single-cell analysis of the developing human testis reveals somatic niche cell specification and fetal germline stem cell establishment
Human testis development in prenatal life involves complex changes in germline and
somatic cell identity. To better understand, we profiled and analyzed∼ 32,500 single-cell …
somatic cell identity. To better understand, we profiled and analyzed∼ 32,500 single-cell …
The X chromosome and male infertility
The X chromosome is a key player in germ cell development, as has been highlighted for
males in previous studies revealing that the mammalian X chromosome is enriched in genes …
males in previous studies revealing that the mammalian X chromosome is enriched in genes …
High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting
S Laurentino, L Heckmann, S Di Persio, X Li… - Clinical …, 2019 - Springer
Background The most common sex chromosomal aneuploidy in males is Klinefelter
syndrome, which is characterized by at least one supernumerary X chromosome. While …
syndrome, which is characterized by at least one supernumerary X chromosome. While …
Computational detection of a genome instability‐derived lncRNA signature for predicting the clinical outcome of lung adenocarcinoma
CR Guo, Y Mao, F Jiang, CX Juan, GP Zhou… - Cancer …, 2022 - Wiley Online Library
Evidence has been emerging of the importance of long non‐coding RNAs (lncRNAs) in
genome instability. However, no study has established how to classify such lncRNAs linked …
genome instability. However, no study has established how to classify such lncRNAs linked …
Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure
R Cannarella, RA Condorelli, S Paolacci… - Asian Journal of …, 2021 - journals.lww.com
A large proportion of patients with idiopathic spermatogenic failure (SPGF; oligozoospermia
or nonobstructive azoospermia [NOA]) do not receive a diagnosis despite an extensive …
or nonobstructive azoospermia [NOA]) do not receive a diagnosis despite an extensive …
Unravelling transmission ratio distortion across the bovine genome: identification of candidate regions for reproduction defects
S Id-Lahoucine, J Casellas, A Suárez-Vega… - BMC genomics, 2023 - Springer
Background Biological mechanisms affecting gametogenesis, embryo development and
postnatal viability have the potential to alter Mendelian inheritance expectations resulting in …
postnatal viability have the potential to alter Mendelian inheritance expectations resulting in …
Genome-wide association screening determines peripheral players in male fertility maintenance
T Greither, HM Behre, H Herlyn - International Journal of Molecular …, 2022 - mdpi.com
Deciphering the functional relationships of genes resulting from genome-wide screens for
polymorphisms that are associated with phenotypic variations can be challenging. However …
polymorphisms that are associated with phenotypic variations can be challenging. However …
A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family
Purpose The purpose of this study was to identify mutations that cause non-syndromic male
infertility using whole exome sequencing of family cases. Methods We recruited a …
infertility using whole exome sequencing of family cases. Methods We recruited a …