New insights into the genetic basis of infertility

T Venkatesh, PS Suresh, R Tsutsumi - The application of clinical …, 2014 - Taylor & Francis
Infertility is a disease of the reproductive system characterized by inability to achieve
pregnancy after 12 or more months of regular unprotected sexual intercourse. A variety of …

Genetic and epigenetic effects in sex determination

SO Gunes, A Metin Mahmutoglu… - Birth Defects Research …, 2016 - Wiley Online Library
Sex determination is a complex and dynamic process with multiple genetic and
environmental causes, in which germ and somatic cells receive various sex‐specific …

Review disorders of sex development: the evolving role of genomics in diagnosis and gene discovery

B Croft, K Ayers, A Sinclair… - Birth Defects Research …, 2016 - Wiley Online Library
Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to
occur in around 1.7% of all live births (Fausto‐Sterling, Sexing the Body: Gender Politics and …

Genome-wide identification, evolutionary and mutational analysis of the buffalo sox gene family

M Abdullah, MS Rehman, MSN Rehman… - Animals, 2023 - mdpi.com
Simple Summary The Sox gene family is a set of specific transcriptional factor (TF) proteins,
with a very similar sequence compared to the sex-determining region Y (SRY), related high …

Cellular fate of intersex differentiation

X Wang, F Lai, D Shang, Y Cheng, T Lan… - Cell Death & …, 2021 - nature.com
Infertile ovotestis (mixture of ovary and testis) often occurs in intersex individuals under
certain pathological and physiological conditions. However, how ovotestis is formed remains …

Novel pathogenic mutations in disorders of sex development associated genes cause 46, XY complete gonadal dysgenesis

M Xue, X Wang, C Li, M Zhao, F He, X Li - Gene, 2019 - Elsevier
Disorders of sex development (DSDs) are congenital conditions in which chromosomal,
gonadal and sex is atypical. It is difficult to diagnose and manage patients with DSD in …

[HTML][HTML] The evaluation of cases with Y-chromosome gonadal dysgenesis: Clinical experience over 18 years

M Berberoğlu, Z Şıklar - Journal of clinical research in pediatric …, 2018 - ncbi.nlm.nih.gov
Objective: Y-chromosome gonadal dysgenesis (GD) is a rare subgroup of disorders of
sexual development (DSD) which results from underdeveloped testis and may exhibit …

Sex reversal syndrome in the horse: Four new cases of feminization in individuals carrying a 64, XY SRY negative chromosomal complement

G Anaya, M Moreno-Millán… - Animal reproduction …, 2014 - Elsevier
Horses are characterized as having a greater rate of chromosomal abnormalities than other
species, which are mainly related to the sex chromosome pair and produce a series of …

Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import

X Wang, M Xue, M Zhao, F He, C Li, X Li - Gene, 2018 - Elsevier
Sex-determining region of the Y chromosome (SRY) gene plays a crucial role in male sexual
differentiation and development. Several mutations in the SRY gene have been reported in …

Molecular and Functional Characterization of Human Sex-Determining Region on the Y Chromosome Variants Using Protamine 1 Promoter

D Pathak, A Baksi, SS Vasan, RR Dighe - DNA and Cell Biology, 2024 - liebertpub.com
The male sex-determining gene, sex-determining region on the Y chromosome (SRY), is
expressed in adult testicular germ cells; however, its role in regulating spermatogenesis …