Results 71 to 80 of about 110,162 (292)

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. [PDF]

, 2015
DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita.
Achermann, JC, Buonocore, F, Duncan, AJ, Suntharalingham, JP   +3 more
core   +1 more source

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

Journal of Clinical Investigation, 2015
Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms.
A. Weinberg-Shukron, P. Renbaum, R. Kalifa, S. Zeligson, Z. Ben‐Neriah, Amatzia Dreifuss, Amal Abu-Rayyan, Noa Maatuk, N. Fardian, Dina Rekler, Moien Kanaan, A. Samson, E. Levy-Lahad, Offer Gerlitz, D. Zangen   +14 more
semanticscholar   +1 more source

Gonadal hybrid dysgenesis in Drosophila sturtevanti (Diptera, Drosophilidae)

Iheringia: Série Zoologia, 2002
The occurrence of hybrid dysgenesis was investigated in Drosophila sturtevanti Duda, 1927 using diagnostic crosses similar to those used for induction of dysgenics traits in D. melanogaster.
Luciane M. de Almeida, Claudia M. A. Carareto   +1 more
doaj   +1 more source

Androgen insensitivity syndrome (AIS) [PDF]

, 2012
SummaryAndrogen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens ...
Bunch, Trevor I., Davies, John D., Hughes, Ieuian, MacDougall, Jane, Mastroyannopoulou, Kiki, Pasterski, Vickie   +5 more
core   +1 more source

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies [PDF]

, 2018
SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown.
Achermann, JC, Almstrup, K, Bashamboo, A, Bignon-Topalovic, J, Brauner, R, Chantot-Bastaraud, S, Charreau, EH, Chiauzzi, VA, Christin-Maitre, S, Dain, L, de Malleray Pichard, C, Dumargne, M-C, Duncan, AJ, Eozenou, C, Fusee, L, Hyon, C, Jauch, R, Louis-Sylvestre, C, MacGowan, S, Mazen, I, McElreavey, K, McLean, WHI, Patin, E, Persani, L, Portnoi, M-F, Rajkovic, A, Rajpert-De Meyts, E, Ravel, C, Reyes-Mugica, M, Rojo, S, Rossetti, R, Rouba, H, Schluth-Bolard, C, Siffroi, J-P, Srivastava, Y, Validire, P, Witchel, SF, Yatsenko, SA   +37 more
core   +11 more sources

Successful triplet pregnancy in an African with pure gonadal dysgenesis: A plus for assisted reproduction

Asian Pacific Journal of Reproduction, 2015
Gonadal dysgenesis represents a congenital developmental disorder of the reproductive system, with its main gynaecologic manifestations being amenorrhea and infertility. We present a unique case of pure gonadal dysgenesis in an ‘about to be’ married lady
M Aziken, J Osaikhuwuomwan, A Osemwenkha, O Iribhogbe, A Orhue   +4 more
doaj   +1 more source

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.

Journal of Clinical Endocrinology and Metabolism, 2015
BACKGROUND 46,XY disorders of sex development (DSD) comprise a heterogeneous group of congenital conditions. Mutations in a variety of genes can affect gonadal development or androgen biosynthesis/action and thereby influence the development of the ...
R. Werner, H. Merz, Wiebke Birnbaum, Louise Marshall, T. Schröder, Benedikt Reiz, J. M. Kavran, T. Bäumer, P. Capetian, O. Hiort   +9 more
semanticscholar   +1 more source

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

Iranian Journal of Medical Sciences, 2017
Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner ...
Zahra Razavi, Hossein Emad Momtaz
doaj  

Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report

Obstetrics and Gynecology International, 2010
Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies. Case Report.
N. Bousfiha, S. Errarhay, H. Saadi, K. Ouldim, C. Bouchikhi, A. Banani   +5 more
doaj   +1 more source

OR15-5 Human Sex Determination at the Edge of Ambiguity: Impaired SRY Phosphorylation Attenuates Expression of the Male Program [PDF]

, 2019
A paradox is posed by metazoan gene-regulatory networks (GRNs) that are robust yet evolvable. Insight may be obtained through studies of bistable genetic circuits mediating developmental decisions. A model in organogenesis is provided by the sex-specific
Chen, Yen-Shan, Phillips, Nelson, Racca, Joseph, Weiss, Michael   +3 more
core   +1 more source