نتایج جستجو برای: sry

تعداد نتایج: 1626  

2012
Helen E. White Carolyn L. Dent Victoria J. Hall John A. Crolla Lyn S. Chitty

BACKGROUND Analysis of cell free fetal (cff) DNA in maternal plasma is used routinely for non invasive prenatal diagnosis (NIPD) of fetal sex determination, fetal rhesus D status and some single gene disorders. True positive results rely on detection of the fetal target being analysed. No amplification of the target may be interpreted either as a true negative result or a false negative result ...

2010
Pascal Philibert Elodie Leprieur Delphine Zenaty Elisabeth Thibaud Michel Polak Anne-Marie Frances James Lespinasse Isabelle Raingeard Nadège Servant Françoise Audran Françoise Paris Charles Sultan

BACKGROUND Primary amenorrhea due to 46,XY disorders of sex differentiation (DSD) is a frequent reason for consultation in endocrine and gynecology clinics. Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other genes, such as SF1 and WT1, have never been studied for their prevalence. METHODS We directly sequ...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه کردستان - دانشکده کشاورزی 1392

گاو نر در مقایسه با گاو ماده به علت هتروگامتیک بودن سهم بیشتری در نسبت جنسی ایفا می¬کند. تشخیص نسبت جنسی اسپرماتوزوئیدها از طریق نسبت کروموزوم¬های x و y قابل انجام است. این پژوهش با هدف تاثیر غلظت تستوسترون خون و مایع منی بر تغییر نسبت جنسی کروموزوم هایx و yاسپرماتوزوئیدها در گاوهای هلشتاین ایران از طریق تکنیک real-time pcr انجام گرفت. در پژوهش حاضر ژن¬های کاندید در تشخیص نسبت کروموزوم¬های x و ...

Journal: :Trends in genetics : TIG 1996
R Jiménez A Sánchez M Burgos R Díaz de la Guardia

Mammals possess an XX/XY chromosomal system for sex determination. The presence of SRY, a masterregulatory gene on the Y chromosome, is necessary to induce the undifferentiated, bipotential gonadal primordium (the embryonic genital ridge) to develop as a testis. In the absence of SRY, it develops as an ovary I. Once the gonads differentiate, their maleor female-specific endocrine function is re...

2012
Remko Hersmus Yvonne G. van der Zwan Hans Stoop Pascal Bernard Rajini Sreenivasan J. Wolter Oosterhuis Hennie T. Brüggenwirth Suzan de Boer Stefan White Katja P. Wolffenbuttel Marielle Alders Kenneth McElreavy Stenvert L. S. Drop Vincent R. Harley Leendert H. J. Looijenga

Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in situ (CIS) or gonadoblastoma (GB) as precursor lesion. In 10-15% of 46,XY gonadal dysgenesis cases (i.e., Swyer syndrome), SRY mutations, residin...

2009
Debora Bogani Pam Siggers Rachel Brixey Nick Warr Sarah Beddow Jessica Edwards Debbie Williams Dagmar Wilhelm Peter Koopman Richard A. Flavell Hongbo Chi Harry Ostrer Sara Wells Michael Cheeseman Andy Greenfield

Sex determination in mammals is controlled by the presence or absence of the Y-linked gene SRY. In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9, a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. Despite the requirement ...

2014
Hada C. Macher Gonzalo Suárez-Artacho Juan M. Guerrero Miguel A. Gómez-Bravo Sara Álvarez-Gómez Carmen Bernal-Bellido Inmaculada Dominguez-Pascual Amalia Rubio

BACKGROUND Health assessment of the transplanted organ is very important due to the relationship of long-term survival of organ transplant recipients and health organ maintenance. Nowadays, the measurement of cell-free DNA from grafts in the circulation of transplant recipients has been considered a potential biomarker of organ rejection or transplant associated complications in an attempt to r...

Journal: :PLoS Biology 2006
Yuna Kim Akio Kobayashi Ryohei Sekido Leo DiNapoli Jennifer Brennan Marie-Christine Chaboissier Francis Poulat Richard R Behringer Robin Lovell-Badge Blanche Capel

The genes encoding members of the wingless-related MMTV integration site (WNT) and fibroblast growth factor (FGF) families coordinate growth, morphogenesis, and differentiation in many fields of cells during development. In the mouse, Fgf9 and Wnt4 are expressed in gonads of both sexes prior to sex determination. Loss of Fgf9 leads to XY sex reversal, whereas loss of Wnt4 results in partial tes...

Journal: :Journal of medical genetics 2004
A Sharp K Kusz J Jaruzelska M Szarras-Czapnik J Wolski P Jacobs

T rue hermaphroditism, defined clinically as the presence of both male and female gonadal tissue in the same individual usually accompanied by ambiguous genitalia, is a genetically heterogeneous condition. Less than 10% of true hermaphrodites with an apparent 46,XX constitution are SRY-positive, usually resulting from translocation between Xp and Yp. Previously we described two true hermaphrodi...

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