Results 91 to 100 of about 436,315 (283)
Protein and cell therapy for lecithin-cholesterol acyltransferase (LCAT) deficiency [PDF]
, 2009 Lecithin-cholesterol acyltransferase (LCAT) is an enzyme principally secreted by the liver into the circulation where it esterifies cholesterol and plays a key role in high- density lipoprotein (HDL) metabolism. In familial and acquired (liver disease)
Low, J K, Low, J.K.
core
Molecular basis and functional characterization of human 3-methylcrotonyl-CoA carboxylase deficiency [PDF]
, 2009 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is a rare disorder of leucine catabolism inherited as an autosomal recessive trait. The phenotypic expression of the disease is highly variable, ranging from neonatal onset with severe neurological ...
Dantas, Maria Fernanda
core +1 more source
Molecular Oncology, EarlyView.Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson +9 more
wiley +1 more source
COMP–PMEPA1 axis promotes epithelial‐to‐mesenchymal transition in breast cancer cells
Molecular Oncology, EarlyView.This study reveals that cartilage oligomeric matrix protein (COMP) promotes epithelial‐to‐mesenchymal transition (EMT) in breast cancer. We identify PMEPA1 (protein TMEPAI) as a novel COMP‐binding partner that mediates EMT via binding to the TSP domains of COMP, establishing the COMP–PMEPA1 axis as a key EMT driver in breast cancer.
Konstantinos S. Papadakos +6 more
wiley +1 more source
Molecular Oncology, EarlyView.Glioma cells mainly express the endothelin receptor EDNRB, while EDNRA is restricted to a perivascular tumor subpopulation. Endothelin signaling reduces glioma cell proliferation while promoting migration and a proneural‐to‐mesenchymal transition associated with poor prognosis. This pathway activates Ca2+, K+, ERK, and STAT3 signalings and is regulated
Donovan Pineau +36 more
wiley +1 more source
PERAWATAN GIGI DAN MULUT PENDERITA HEMOFILIA
Journal of Dentistry Indonesia, 2015 Haemophilia is a congenital haemorrhagic disorders passed down by the x linked recessive, divided into two: Haemophilia A caused by deficiency of factor VIII and Haemophilia B caused by deficiency of factor IX.
Siti Marhamah
doaj +1 more source
Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients
, 1998 The spectrum of the clinical manifestations of congenital factor X deficiency was studied in 32 Iranian patients. The most frequent symptom was epistaxis, which occurred in 72% of patients, with all degrees of deficiency Other mucosal haemorrhages (e.g ...
P.M. Mannucci +6 more
core +1 more source
Molecular Oncology, EarlyView.Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla +9 more
wiley +1 more source
Molecular Oncology, EarlyView.Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch +13 more
wiley +1 more source
Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
Molecular Oncology, EarlyView.The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source