Results 81 to 90 of about 23,999 (238)
Ultrasound in Obstetrics &Gynecology, EarlyView.ABSTRACT Objective To identify prenatal predictors of tuberous sclerosis complex (TSC) in fetuses with one or more cardiac rhabdomyomas (CR), evaluate an integrated multimodal diagnostic workflow using fetal magnetic resonance imaging (MRI) and trio whole‐exome sequencing (trio‐WES) and characterize perinatal outcomes.
X. Cai +8 more
wiley +1 more source
TSC2 negatively regulates AdPLA2 expression in vivo.
, 2014 Female CB17-scid mice were subcutaneously inoculated with ELT3-V3 cells (TSC2-, vector) or ELT3-T3 (TSC2+, TSC2 addback) cells (n = 8 mice/group). (A) Immunoblotting analysis of AdPLA2 and phospho-S6 (S235/236) in xenograft tumors of ELT3 cells.
Po-Shun Lee (358563) +10 more
core +1 more source
Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations.
, 2020 The TSC complex is the cognate GTPase-activating protein (GAP) for the small GTPase Rheb and a crucial regulator of the mechanistic target of rapamycin complex 1 (mTORC1).
Kiontke, Stephan +31 more
core +1 more source
BMC Medical Genetics, 2008 Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues.
Dommering Charlotte +9 more
doaj +1 more source
Non‐canonical PKG1 regulation in cardiovascular health and disease
British Journal of Pharmacology, EarlyView.It is well established that the cyclic GMP‐dependent protein kinase I (PKG1) is canonically activated by cyclic guanosine monophosphate (cGMP), enabling its regulation of vascular tone, cardiac function and smooth muscle homeostasis. However, diverse non‐canonical stimuli of PKG1 have also been identified.
Jie Su, Joseph Robert Burgoyne
wiley +1 more source
Increased expression of IGF2 transcripts in TSC2— human LAM cells and Tsc2-/- MEFs.
, 2018 (A) TSC2 levels in human TSC2-null LAM 621–102 cells (TSC2—) cells and TSC2 re-expressing 621–103 LAM (TSC2++) cells. (B) RNA-Seq results show increased IGF2 transcripts per kilobase million (TPM) in TSC2— cells.
Maya Shumyatcher (5215781) +9 more
core +1 more source
Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR.
PLoS ONE, 2010 Autosomal dominant polycystic kidney disease (ADPKD) is a commonly inherited renal disorder caused by defects in the PKD1 or PKD2 genes. ADPKD is associated with significant morbidity, and is a major underlying cause of end-stage renal failure (ESRF ...
Ruhee Dere +3 more
doaj +1 more source
Cancer Science, EarlyView.Transcriptomic profiling of CD34+ cells from AML patients relapsing after allo‐HSCT reveals lncRNA‐driven ceRNA networks, with the SNHG8‐miR‐625‐ZC3H13/15 axis identified as a key relapse‐promoting module through CRISPR screening and single‐cell perturbation.
Fei Zhao +14 more
wiley +1 more source
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
Clinical Genetics, EarlyView.The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
wiley +1 more source
STAT3-dependent upregulation of IGF2 in TSC2-null cells.
, 2018 (A) Re-expression of TSC2 (TSC2++) in TSC2-null LAM 102 (TSC2—) cells decreased STAT3 expression and activation. (B) siRNA-induced knockdown of STAT3 decreased STAT3 levels in TSC2— cells.
Maya Shumyatcher (5215781) +9 more
core +1 more source