Results 41 to 50 of about 4,235 (189)

miR-139-5p Was Identified as Biomarker of Different Molecular Subtypes of Breast Carcinoma

open access: yesFrontiers in Oncology, 2022
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]

open access: yes, 2017
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

Construction of a novel miRNA regulatory network and identification of target genes in gestational diabetes mellitus by integrated analysis

open access: yesFrontiers in Genetics, 2022
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]

open access: yes, 2012
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

Case Report: Transcatheter treatment of aortic coarctation in a 58-year-old patient with LACHT syndrome and left lung agenesis

open access: yesFrontiers in Cardiovascular Medicine, 2023
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]

open access: yes, 2014
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]

open access: yes, 2020
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]

open access: yes, 2018
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

Analysis of mRNA expression of CNN3, DCN, FBN2, POSTN, SPARC and YWHAQ genes in porcine foetal and adult skeletal muscles

open access: yesCzech Journal of Animal Science, 2008
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

Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families

open access: yesFrontiers in Genetics, 2022
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

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