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 …
The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group …
Despite 12 yr since the discovery of SRY, little is known at the molecular level about how
SRY and the SRY-related protein, SOX9 [SRY-related high-mobility group (HMG) box 9] …
SRY and the SRY-related protein, SOX9 [SRY-related high-mobility group (HMG) box 9] …
46, XY disorders of sex development (DSD)
The term disorders of sex development (DSD) includes congenital conditions in which
development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes …
development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes …
Sry and Sox9: mammalian testis-determining genes
P Koopman - Cellular and Molecular Life Sciences CMLS, 1999 - Springer
Sry is the Y-chromosomal gene that acts as a trigger for male development in mammalian
embryos. This gene encodes a high mobility group (HMG) box transcription factor that is …
embryos. This gene encodes a high mobility group (HMG) box transcription factor that is …
A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency
RV Correa, S Domenice, NC Bingham… - The Journal of …, 2004 - academic.oup.com
Abstract Steroidogenic factor 1 (SF-1) is an orphan nuclear receptor that plays key roles in
endocrine development and function. Knockout mice lacking SF-1 have adrenal and …
endocrine development and function. Knockout mice lacking SF-1 have adrenal and …
SRY: A transcriptional activator of mammalian testis determination
R Sekido - The international journal of biochemistry & cell biology, 2010 - Elsevier
Sry (sex-determining region Y) is the sex-determining gene on the mammalian Y
chromosome, which encodes a transcription factor containing a DNA-binding domain …
chromosome, which encodes a transcription factor containing a DNA-binding domain …
Familial sex reversal: a review
K Sarafoglou, H Ostrer - The Journal of Clinical Endocrinology & …, 2000 - academic.oup.com
Since 1905, it has been recognized that a gene on the Y chromosome, originally termed
TDF (for “testes-determining factor”) acted in a dominant fashion to promote male sexual …
TDF (for “testes-determining factor”) acted in a dominant fashion to promote male sexual …
Mammalian sex determination: from gonads to brain
E Vilain, ERB McCabe - Molecular Genetics and Metabolism, 1998 - Elsevier
In mammals, sex is determined by the Y chromosome, which encodes a testis-determining
factor (TDF). This factor causes the undifferentiated embryonic gonads to develop as testes …
factor (TDF). This factor causes the undifferentiated embryonic gonads to develop as testes …
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations
KC Knower, S Kelly, LM Ludbrook, S Bagheri-Fam… - PLoS …, 2011 - journals.plos.org
Background In human embryogenesis, loss of SRY (sex determining region on Y), SOX9
(SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex …
(SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex …
Sex determination and the Y chromosome
K McElreavey, M Fellous - American Journal of Medical …, 1999 - Wiley Online Library
Although SRY was first identified 10 years ago, we still know remarkably little about its mode
of action or downstream target genes. Recently, potential protein partners have been …
of action or downstream target genes. Recently, potential protein partners have been …