Results 31 to 40 of about 44,786 (250)

The Sex-Determining Factors SRY and SOX9 Regulate Similar Target Genes and Promote Testis Cord Formation during Testicular Differentiation

Cell Reports, 2014
Male sex determination is mediated sequentially by sex-determining region Y (SRY) and related SRY-box 9 (SOX9) transcription factors. To understand the gene regulatory hierarchy for SRY and SOX9, a series of chromatin immunoprecipitation and whole-genome
Yunmin Li, Ming Zheng, Yun-Fai Chris Lau   +2 more
doaj   +1 more source

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

A novel SRY pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293

Clinical Case Reports, 2021
46,XY female is a genetic disorder characterized by gonad gender not consistent with chromosomal sex. The SRY gene mutation is a common cause of 46,XY reversal type 1 (OMIM: 400044).
Shengfang Qin, Xueyan Wang, Yunxing Li
doaj   +1 more source

A family case of fertile human 45,X,psu dic(15;Y) males [PDF]

, 2006
We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
Andersson M, Baumstark A, Buonadonna AL, C.S. Nagarajappa, Callen DF, Charchar FJ, Fracarro M, Freije D, Gal A, Haaf T, Hsu TC, I. Hansmann, I. Palaniappan, Koiffmann CP, Ma NS, Maserati E, Matthey R, N. Chandra, P.M. Gopinath, R. Wimmer, Ried T, Schempp W, Schiebel K, Schmid M, Siffroi JP, Subrt I, Tiemeier DC, W. Schempp, Weber B, White LM   +29 more
core   +1 more source

A site-specific, single-copy transgenesis strategy to identify 5' regulatory sequences of the mouse testis-determining gene Sry. [PDF]

PLoS ONE, 2014
The Y-chromosomal gene SRY acts as the primary trigger for male sex determination in mammalian embryos. Correct regulation of SRY is critical: aberrant timing or level of Sry expression is known to disrupt testis development in mice and we hypothesize ...
Alexander Quinn, Kenichi Kashimada, Tara-Lynne Davidson, Ee Ting Ng, Kallayanee Chawengsaksophak, Josephine Bowles, Peter Koopman   +6 more
doaj   +1 more source

Dissociable effects of Sry and sex chromosome complement on activity, feeding and anxiety-related behaviours in mice. [PDF]

PLoS ONE, 2013
Whilst gonadal hormones can substantially influence sexual differentiation of the brain, recent findings have suggested that sex-linked genes may also directly influence neurodevelopment. Here we used the well-established murine 'four core genotype' (FCG)
Eleni Kopsida, Phoebe M Lynn, Trevor Humby, Lawrence S Wilkinson, William Davies   +4 more
doaj   +1 more source

Role of androgen and gonadotrophins in the development and function of the Sertoli cells and Leydig cells: data from mutant and genetically modified mice [PDF]

, 2009
Development and maintenance of the male phenotype and establishment of fertility are all dependent upon the activity of the Sertoli cells and Leydig cells of the testis.
Abel, M.H., Baker, P.J., Huhtaniemi, I., Morris, I.D., O'Shaughnessy, P.J.   +4 more
core   +1 more source

Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene

Molecular Cytogenetics, 2022
Background A male individual with a karyotype of 46,XX is very rare. We explored the genetic aetiology of an infertility male with a kayrotype of 46,XX and SRY negative.
Shengfang Qin, Xueyan Wang, Jin Wang
doaj   +1 more source

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis

Brazilian Journal of Medical and Biological Research, 2005
The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation.
E.B. Tagliarini, J.G. Assumpção, M.R. Scolfaro, M.P. de Mello, A.T. Maciel-Guerra, G. Guerra Júnior, C. Hackel   +6 more
doaj   +1 more source

Polymorphisms in DMRT1 coding and promoter regions are probably not causative for swine sex reversal (XX, SRY-negative) syndrome [PDF]

, 2011
SRY-negative XX sex reversal is an inherited or sporadically occurring disorder, where testis development appears in the absence of the SRY gene. Although the molecular background of this intersexuality syndrome in pigs is unknown, it was proposed that ...
Bratuś, A, Klukowska-Rötzler, J, Neuenschwander, S, Piestrzyńska-Kajtoch, A, Słota, E, Świtoński, M   +5 more
core   +1 more source