Results 41 to 50 of about 4,235 (189)
miR-139-5p Was Identified as Biomarker of Different Molecular Subtypes of Breast Carcinoma
Located on chromosome 11q13.4, miR-139-5p has been confirmed by several studies as a possible attractive biomarker for cancer, including breast cancer, but its mechanism of correlation in different molecular subtypes of breast cancer has not been ...
Haohang Sun +7 more
doaj +1 more source
Effect of altered haemodynamics on the developing mitral valve in chick embryonic heart [PDF]
Intracardiac haemodynamics is crucial for normal cardiogenesis, with recent evidence showing valvulogenesis is haemodynamically dependent and inextricably linked with shear stress.
Abdelwahid +88 more
core +1 more source
Backgrounds: Given the roles of microRNA (miRNA) in human diseases and the high incidence of gestational diabetes mellitus (GDM), the aim of the study was to examine miRNA signatures and crucial pathways, as well as possible biomarkers for GDM diagnosis ...
Liyan Ding +6 more
doaj +1 more source
Genetic architecture of body size in mammals [PDF]
Much of the heritability for human stature is caused by mutations of small-to-medium effect.
Goddard, Michael E. +2 more
core +1 more source
LACHT (Lung Agenesis, Congenital Heart, and Thumb anomalies) syndrome is an extremely rare congenital anomaly and presents significant challenges in adults due to its poor survival rates.
Qingxian Tu +7 more
doaj +1 more source
Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection [PDF]
Despite declining sequencing costs, few methods are available for cost-effective single-nucleotide polymorphism (SNP), insertion/deletion (INDEL) and copy number variation (CNV) discovery in a single assay.
Alvarado, David M +4 more
core +2 more sources
Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]
Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro +44 more
core +1 more source
ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal +18 more
core +1 more source
Skeletal muscle growth is determined by the number of prenatally formed fibres and by the degree of their postnatal hypertrophy; i.e. prenatal development may influence the postnatal growth.
K. Bílek +7 more
doaj +1 more source
Thoracic aortic aneurysms and dissections are precarious conditions that often cannot be diagnosed with fatal outcomes. Over the last few years, pathogenic variants in numerous genes have been identified that predispose to heritable presentations of TAAD.
Renle Guo +12 more
doaj +1 more source

