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 …
A Risk of Gonadoblastoma in Familial Swyer Syndrome—A Case Report and Literature Review
E Rudnicka, A Jaroń, J Kruszewska… - Journal of Clinical …, 2024 - mdpi.com
A complete gonadal dysgenesis (CGD) with 46, XY karyotype is known as the Swyer
syndrome and belongs to the group of 46, XY differences of sex development (DSD). The …
syndrome and belongs to the group of 46, XY differences of sex development (DSD). The …
Molecular heterogeneity of XY sex reversal in horses
Summary Male‐to‐female 64, XY sex reversal is a frequently reported chromosome
abnormality in horses. Despite this, the molecular causes of the condition are as yet poorly …
abnormality in horses. Despite this, the molecular causes of the condition are as yet poorly …
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 …
gonadal and sex is atypical. It is difficult to diagnose and manage patients with DSD in …
Functional analysis of SRY variants in individuals with 46, XY Differences of Sex Development.
FP Idris, J van den Bergen, G Robevska… - Molecular and Cellular …, 2025 - Elsevier
In mammals, male sexual development is initiated by the expression of the Sex-determining-
Region-Y (SRY) gene. SRY contains a highly conserved High Mobility Group (HMG) box …
Region-Y (SRY) gene. SRY contains a highly conserved High Mobility Group (HMG) box …
Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective
MR Nagaraja, SP Gubbala… - Systems Biology in …, 2019 - Taylor & Francis
We aimed to survey the monogenic causes of disorders of sex development (DSD) and
thereby its prevalence in India. This study revealed mutations resulting in androgen …
thereby its prevalence in India. This study revealed mutations resulting in androgen …
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 …
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
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 …
expressed in adult testicular germ cells; however, its role in regulating spermatogenesis …
Generation and mutational analysis of a transgenic mouse model of human SRY
E Thomson, L Zhao, YS Chen, E Longmuss… - Human …, 2022 - Wiley Online Library
SRY is the Y‐chromosomal gene that determines male sex development in humans and
most other mammals. After three decades of study, we still lack a detailed understanding of …
most other mammals. After three decades of study, we still lack a detailed understanding of …
The novel p. E89K mutation in the SRY gene inhibits DNA binding and causes the 46, XY disorder of sex development
JL Cunha, FC Soardi, RD Bernardi… - Brazilian Journal of …, 2011 - SciELO Brasil
Male sex determination in humans is controlled by the SRY gene, which encodes a
transcriptional regulator containing a conserved high mobility group box domain (HMG-box) …
transcriptional regulator containing a conserved high mobility group box domain (HMG-box) …