Results 61 to 70 of about 2,449,755 (371)
Children, 2018 Cystic fibrosis (CF) is the most common fatal genetic diseases in the United States in Caucasians. More than 2000 genetic mutations have been described and CF is now known to affect other races.
Hani K. Fanous +4 more
doaj +1 more source
Normal and Abnormal Relationships of Pulmonary Artery to Wedge Pressure During Exercise
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020 Background Resting right heart catheterization can assess both left heart filling and pulmonary artery (PA) pressures to identify and classify pulmonary hypertension.
Robert F. Bentley +6 more
doaj +1 more source
PhenoScanner: a database of human genotype–phenotype associations
Bioinform., 2016 Summary: PhenoScanner is a curated database of publicly available results from large-scale genetic association studies. This tool aims to facilitate ‘phenome scans’, the cross-referencing of genetic variants with many phenotypes, to help aid ...
James R. Staley +11 more
semanticscholar +1 more source
Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia
FEBS Letters, EarlyView.This Review explores how the phosphoinositide 3‐kinase and protein kinase B pathway shapes B cell development and drives chronic lymphocytic leukemia, a common blood cancer. It examines how signaling levels affect disease progression, addresses treatment challenges, and introduces novel experimental strategies to improve therapies and patient outcomes.
Maike Buchner
wiley +1 more source
Association study between gene expression and multiple phenotypes in omics applications of complex diseases [PDF]
arXiv, 2021 Studying phenotype-gene association can uncover mechanism of diseases and develop efficient treatments. In complex disease where multiple phenotypes are available and correlated, analyzing and interpreting associated genes for each phenotype respectively may decrease statistical power and lose intepretation due to not considering the correlation ...
arxiv
Diphthamide synthesis is linked to the eEF2‐client chaperone machinery
FEBS Letters, EarlyView.The diphthamide modification of eukaryotic translation elongation factor 2 (eEF2) is important for accurate protein synthesis. We addressed the potential coordination of de novo eEF2 synthesis with simultaneous or subsequent diphthamide modification. Our work reveals that the co‐chaperones Hgh1 and Cpr7, which are known to support folding of nascent ...
Lars Kaduhr +4 more
wiley +1 more source
Ontology-based annotation and analysis of COVID-19 phenotypes [PDF]
arXiv, 2020 The epidemic of COVID-19 has caused an unpredictable and devastated disaster to the public health in different territories around the world. Common phenotypes include fever, cough, shortness of breath, and chills. With more cases investigated, other clinical phenotypes are gradually recognized, for example, loss of smell, and loss of tastes.
arxiv
Genomic Informational Field Theory (GIFT) to characterize genotypes involved in large phenotypic fluctuations [PDF]
arXiv, 2023 Based on the normal distribution and its properties, i.e., average and variance, Fisher works have provided a conceptual framework to identify genotype-phenotype associations. While Fisher intuition has proved fruitful over the past century, the current demands for higher mapping precisions have led to the formulation of a new genotype-phenotype ...
arxiv
, 2019 Organisms. Journal of Biological Sciences, V. 3, N. 2 (2019)
Alessio Martino +2 more
openaire +2 more sources
FEBS Letters, EarlyView.Low‐density lipoprotein receptor‐related protein 6 (LRP6) is a key receptor for the Wnt antagonist Dickkopf1 (DKK1). DKK1 protein expression is induced in a bleomycin (BLM)‐induced lung injury model. We show that DKK1 induces proinflammatory and profibrotic genes in lung fibroblasts.
Eun‐Ah Sung +6 more
wiley +1 more source