Results 131 to 140 of about 9,958 (250)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
The Journal of Reproduction and DevelopmentL-tryptophan (Trp), an essential amino acid, is a precursor of 5-hydroxytryptamine (5-HT; also known as serotonin) that promotes mammalian sperm hyperactivation.
Issei SUZUKI +2 more
doaj +1 more source
Effect of Geld on human sperm hyperactivation in response to P4.
, 2014 The sperm were treated with 2 µM geldanamycin (Geld) or with dimethyl sulfoxide (0.1%, v/v) as the vehicle control, in presence or absence of 2.5 µM progesterone (P4) for 3 h under capacitation conditions. Human sperm hyperactivation was analyzed using a
Qixian Shi (375408) +7 more
core +1 more source
A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis
Animal Models and Experimental Medicine, EarlyView.A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu +6 more
wiley +1 more source
IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α
Animal Models and Experimental Medicine, EarlyView.IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α. Abstract Background The purpose is to define the contribution of the interferon regulatory factor‐1–dual‐specificity tyrosine phosphorylation‐regulated kinase 1α (IRF‐1–DYRK1α) axis to hepatocellular ferroptosis during liver ischemia/reperfusion injury ...
Jinping Zhang +6 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.The study employed a four‐tiered strategy: (1) UHPLC‐FTMS profiling of Citrus aurantium honey to characterize its chemical composition; (2) network pharmacology analysis integrating target prediction, protein–protein interaction networks, and KEGG pathway enrichment to identify the Thor1/Nprl2‐TORC1 axis as a key mechanistic pathway; (3) in vitro ...
Wenqi Wan +6 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective Systemic lupus erythematosus (SLE) shows clinical and molecular heterogeneity, and cardiovascular (CV) complications and lupus nephritis (LN) remain leading causes of morbidity and mortality. This study investigated whether omic profiling can reveal molecular endotypes linked to these outcomes.
Tomás Cerdó +84 more
wiley +1 more source
Impaired hyperactivation of human sperm in patients with infertility.
Journal of medical and dental sciences, 2004 Hyperactivation and acrosome reaction are prerequisite steps for sperm to be able to fertilize an oocyte. In mammals, hyperactivation is defined as a movement pattern seen in spermatozoa at the site and time of fertilization. The objectives of the present experiments were to analyze the process of hyperactivation and to investigate its relationship ...
Munire, Mirihasimu +4 more
openaire +2 more sources
Assessment of sperm hyperactivation of spermatozoa under the various experimental conditions used.
, 2014 VCL (A and B), ALH (C and D) and LIN (E and F) were considered for assessing hyperactivation in the spermatozoa.
Durgesh K. Singh (567667) +5 more
core +1 more source