Results 71 to 80 of about 70,106 (300)
THE RISK FOR DEVELOPING TUMOR IN PATIENTS WITH GONADAL DYSGENESIS 46,XY
Бюллетень сибирской медицины, 2015 Disorders of sex development with Y chromosome material has been associated with a high risk for developing germ cell tumors such as gonadoblastoma or dysgerminoma.
O. Yu. Latyshev +5 more
doaj +1 more source
Abnormalities of gonadal differentiation [PDF]
, 1998 Gonadal differentiation involves a complex interplay of developmental pathways. The sex determining region Y ( SRY) gene plays a key role in testis determination, but its interaction with other genes is less well understood.
Seeherunvong, Tossaporn +1 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Biochemistry and Biophysics Reports, 2017 DM domain transcription factors play important roles in sexual development in a wide variety of species from invertebrate to humans. Among seven mammalian family members of DM domain transcription factors, DMRT1 has been studied in mouse and human for ...
Masafumi Inui +3 more
doaj +1 more source
Homeoproteins Six1 and Six4 Regulate Male Sex Determination and Mouse Gonadal Development [PDF]
, 2013 SummaryThe Y-linked gene Sry regulates mammalian sex determination in bipotential embryonic gonads. Here, we report that the transcription factors Six1 and Six4 are required for male gonadal differentiation.
Tachibana, Makoto +10 more
core +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Jurnal Ilmiah Perikanan dan Kelautan, 2012 Abalone is one kind of shellfish fisheries of the world has become a commodity which is currently experiencing increased demand, especially from international markets.
Sudarno Sudarno +2 more
doaj +1 more source
Genetic‐Proteomic Integration Identifies Predictive Plasma Proteins for Multiple Sclerosis
Annals of Neurology, EarlyView.Objective Multiple sclerosis (MS) develops after a prolonged preclinical phase. Identifying circulating biomarkers that capture this early biology can improve risk stratification and guide intervention. We aimed to identify plasma proteins driving MS susceptibility using large‐scale proteogenomic integration and to evaluate their prediagnostic ...
Yuan Ding +5 more
wiley +1 more source
Frontiers in EndocrinologyBackgroundSex steroid hormones, primarily synthesized by gonadal somatic cells, are pivotal for sexual development and reproduction. Mice studies have shown that two transcription factors, steroidogenic factor 1 (SF-1) and Wilms’ tumor 1 (WT1), are ...
Yumiko Miyazaki +5 more
doaj +1 more source
The Anatomical Record, EarlyView.Abstract Teleocichla comprises small cichlids that inhabit the rapid streams of Amazonian rivers; however, there has been limited research on their encephalon morphology. This study examined the neuroanatomy of four species, focusing on volumetric measurements of their encephalon subregions, and providing a histological description of the encephalon of
Renan Leão‐Reis +4 more
wiley +1 more source