Results 71 to 80 of about 167,087,863 (243)

Cytogenetic Analyses in Ewes with Congenital Abnormalities of the Genital Apparatus

Animals, 2019
The Disorders of Sex Development (DSDs) are congenital conditions characterized by inconsistency among chromosomal, gonadal, and anatomical sex development. The aim of this research is to report the clinical and cytogenetic findings of four DSD cases and
Sara Albarella, Emanuele D’Anza, Giacomo Galdiero, Luigi Esposito, Davide De Biase, Orlando Paciello, Francesca Ciotola, Vincenzo Peretti   +7 more
doaj   +1 more source

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

, 2015
International audienceDisorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these
Sandra Chantot‐Bastaraud, Sandra Rojo, Radu Harbuz, Matthieu Peycelon, Nicolas Perrot, Perrot, Nicolas, Piguel, Xavier, Hyon, Capucine, Chantot-Bastaraud, Sandra, Mcelreavey, Ken, Bhouri, Rakia, Peycelon, Matthieu, Bashamboo, Anu, Sibony, Mathilde, Rojo, Sandra, Harbuz, Radu, Capucine Hyon, Xavier Piguel, Gilbert-Dussardier, Brigitte, Frederic Bilan, Brigitte Gilbert‐Dussardier, Bilan, Frederic, Alain Kitzis, Mathilde Sibony, Kitzis, Alain, Rakia Bhouri, Anu Bashamboo, Ken McElreavey, Jean‐Pierre Siffroi, Siffroi, Jean-Pierre   +29 more
core   +1 more source

Dual Effects of β‐TrCP2 Deletion in Bone Homeostasis: Suppression of Osteoclastogenesis and Enhancement of Osteoblast Activity

Arthritis &Rheumatology, Accepted Article.
Objectives To elucidate role of beta‐transducin repeat‐containing protein 2 (β‐TrCP2) in bone homeostasis for its potential as a therapeutic target for osteoporosis. Methods The role of β‐TrCP2 in bone phenotypes was investigated using systemic β‐TrCP1KO and β‐TrCP2KO mice, along with myeloid‐specific conditional β‐TrCP2KO (β‐TrCP2ΔM) mice.
Woo Jung Kim, Sora Han, Hye In Ka, Sun Young Lee, Jiwon Kim, Hyunjeong Joo, Sujung Soh, Gaeun Oh, Kyung Hyun Yoo, Seung Hyun Han, Yeongkag Kwon, Choogon Lee, Kyung‐Hyun Park‐Min, Se Hwan Mun, Young Yang   +14 more
wiley   +1 more source

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc [PDF]

, 2008
Context: Mitochondrial cytochrome P450scc converts cholesterol to pregnenolone in all steroidogenic tissues. Although progesterone production from the fetally-derived placenta is necessary to maintain pregnancy to term, four patients with mutations in ...
Huang, NW, Achermann, JC, Lin, L, Kim, CJ, Miller, WL, Quigley, CA, AvRuskin, TW   +6 more
core  

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Inhibitory Control Tells Only Part of the Story: Reward Sensitivity Moderates the Prospective Link Between the No‐Go P3 and Emerging Eating Pathology in Early Adolescents

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Early adolescence is characterized by the onset of mental health problems, including eating pathology (e.g., body image concerns, restrictive eating). Inhibitory control (IC) and reward sensitivity (RS) are two key traits that have been implicated in the development of eating problems.
Jaron X. Y. Tan, Lisa Brooks, Pan Liu
wiley   +1 more source

Disorders of sex development: developmental challenges and mothers' experiences of support [PDF]

, 2014
An increasing body of research has sought to determine the impact of Disorders of Sex Development (DSD) on the family of the affected child. Little is currently understood about the support needs of the family and how well these needs are met.
Chivers, C.
core  

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

BMC Medical Genetics, 2012
Background The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)).
Hersmus Remko, Stoop Hans, Turbitt Erin, Oosterhuis J, Drop Stenvert LS, Sinclair Andrew H, White Stefan J, Looijenga Leendert HJ   +7 more
doaj   +1 more source

Factors contributing to sex assignment and reassignment decisions in Turkish children with 46,XY disorders of sex development

, 2007
Yilmaz, Savas/0000-0003-2540-5808; berberoglu, merih/0000-0003-3102-0242Background. Sex assignment decisions for children with disorders of sex development (DSD) should be based on integrative assessments of relevant biological and psychosocial ...
M. Berberoğlu, R. Uslu, Öcal, G., Özcan, O. e., P. Adıyaman, Yilmaz, S., E. Kerimoğlu, G. Öcal, Öztop, D., D. Öztop, Ö. Özcan, Adiyaman, P., M. Çakmak, Uslu, R., Berberoglu, M., S. Yılmaz   +15 more
core   +1 more source