Results 41 to 50 of about 53,137 (275)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman +15 more
wiley +1 more source
Остеопороз и остеопатии, 2015 Aim of this study was to estimate the markers of mineral turnover and BMD in young women with the central hypogonadism, to compare them with healthy young women and healthy postmenopausal women of middle/advanced age. Materials and methods.
I A Ilovaiskaya +4 more
doaj +1 more source
Animal models of diabetes-related male hypogonadism [PDF]
, 2019 Hypogonadism is the clinical syndrome associated with low testosterone secretion in men. Hypogonadism affects ~37–57% men with diabetes mellitus (1). Male reproduction is orchestrated by the hypothalamo-pituitary-gonadal (HPG) axis, which regulates the ...
Dimakopoulou, Anastasia +6 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad +6 more
wiley +1 more source
Frequency of the allelic variant (Trp8Arg/Ile15Thr) of the luteinizing hormone gene in a Brazilian cohort of healthy subjects and in patients with hypogonadotropic hypogonadism [PDF]
Clinics, 2005 PURPOSE: To evaluate the frequency of allelic variant Trp8Arg/Ile15Thr in the luteinizing hormone beta-subunit gene in a Brazilian population of healthy subjects and in patients with hypogonadotropic hypogonadism.
Karina Berger +5 more
doaj +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Genetics of congenital central hypogonadism
, 2022 The diagnostic suspicion of congenital central hypogonadism is based on clinical signs. Biochemical confirmation is challenging, especially after the postnatal activation stage of the hypothalamic–pituitary–testicular axis. Sertoli cell markers, like AMH
Grinspon, Romina
core +1 more source
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
Hypogonadism in Systemic Diseases
, 2017 Serum testosterone is often lower than normal in patients with acute or chronic systemic diseases. The underlying mechanisms involved in the reduced testosterone secretion depend on the type of systemic disease; thus, many pathogenetic mechanisms might ...
ROCHIRA, Vincenzo, Vincenzo Rochira
core +1 more source
European Eating Disorders Review, EarlyView.ABSTRACT Objective The albumin‐globulin ratio (AGR) is a biochemical marker reflecting nutritional and inflammatory status, with significant prognostic value in chronic conditions. This study examined its association with clinical/biochemical markers in adolescents with anorexia nervosa (AN) and atypical AN (AAN).
Eylem Şerife Kalkan +5 more
wiley +1 more source