This domain occurred 424 times on human genes ( 985 proteins). (umbc.edu)
Candidate genes7
To detect pathogenic variants in multiple deafness genes, in addition to novel candidate genes associated with hearing loss, whole exome sequencing (WES), followed by analysis prioritizing genes categorized in four tiers, were applied. (biomedcentral.com)
Our findings demonstrate that four-tier assessment of WES data is efficient and can detect novel candidate genes associated with hearing loss, in addition to pathogenic variants of known deafness genes. (biomedcentral.com)
For comprehensive investigation of the genetic heterogeneity of diseases with a wide range of causative genes, such as hearing loss, and to identify novel candidate genes, WES analysis overcomes the limitations of targeted analysis and is considerably more cost-effective than whole genome sequencing (WGS) analysis. (biomedcentral.com)
In this study, we sought to explore the wide spectrum of genetic heterogeneity associated with hearing loss in Japan, and to discover novel candidate genes associated with hearing loss, using trio analysis of probands and their parents, and four originally developed gene groups ranked by priority (tiers), as a new strategy to filter candidate variants. (biomedcentral.com)
The candidate genes exhibit expression patterns in lung and heart similar to that of known PAH risk genes, and most variants occur in conserved protein domains. (biomedcentral.com)
At least eight novel pediatric candidate genes carrying de novo variants have plausible roles in lung/heart development. (biomedcentral.com)
Rare variant analysis of a large international consortium identified two new candidate genes- FBLN2 and PDGFD . (biomedcentral.com)
Novel candidate1
Genetic analyses of larger cohorts using gene panels, exome sequencing (ES), or genome sequencing (GS) have further defined the frequency of individuals with deleterious variants in PAH risk genes and have identified novel candidate risk genes. (biomedcentral.com)
Proteins2
A substantial portion of the regulatory interactions in the higher eukaryotic cell are mediated by simple sequence motifs in the regulatory segments of genes and (pre-)mRNAs, and in the intrinsically disordered regions of proteins. (biomedcentral.com)
Noonan syndrome and related disorders are caused by mutations in genes encoding for proteins of the RAS-ERK1/2 signaling pathway, which affect development by enhanced ERK1/2 activity. (sdbonline.org)
Protein9
Protein deltex-1 is a protein that in humans is encoded by the DTX1 gene. (wikipedia.org)
methylation at certain residues of histones can regulate gene expression [ 4 ], and glycosylation is responsible for targeting substrates and changing protein half-life [ 2 ]. (hindawi.com)
Either at genomic or at proteomic level, mutations have significant impact on normal gene or protein function, and human diseases could be associated with mutations like nonsynonymous single-nucleotide variations (nsSNVs) on amino acids. (hindawi.com)
Yet how gene mutations affect protein activities through posttranslational modification sites have not been widely studied. (hindawi.com)
Her identification and investigation of multiple genes has contributed understanding to how the central PKD protein, Polycystin-1, matures through the endoplasmic reticulum. (yale.edu)
We observe that each gene and its products have a unique set of DNA, RNA or protein motifs that encode a regulatory program to define the logical circuitry that guides the life cycle of these biomolecules, from transcription to degradation. (biomedcentral.com)
This study identified that the protein most commonly affected in Noonan syndrome, the phosphatase SHP2, known in Drosophila as corkscrew (CSW) , controls life span, triglyceride levels, and metabolism without affecting ERK signaling pathway. (sdbonline.org)
Noonan syndrome (NS) and NS with multiple lentigines (NSML) cognitive dysfunction are linked to SH2 domain-containing protein tyrosine phosphatase-2 (SHP2) gain-of-function (GoF) and loss-of-function (LoF), respectively. (sdbonline.org)
Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A-related kinase 2. (umbc.edu)
Mutations1
Although data of both gene mutations and PTMs are increasing fast, the proteome-wide analysis on the relationship between damaged PTMs and human diseases is not well studied. (hindawi.com)
Tumor1
He has led genome-wide studies of human genome variation, heritable gene expression variation, human genetic disorders, tumor evolution, mouse strain variation, genome stability in reprogrammed stem cells, and single-neuron somatic mosaicism in the human brain. (yale.edu)
Exome2
To identify new risk genes, we utilized an international consortium of 4241 PAH cases with exome or genome sequencing data from the National Biological Sample and Data Repository for PAH, Columbia University Irving Medical Center, and the UK NIHR BioResource - Rare Diseases Study. (biomedcentral.com)
Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries. (stanford.edu)
Variants4
Using this strategy, we successfully detected candidate pathogenic variants in 11 previously reported deafness genes in 21 families, as well as eight single candidate deafness genes in 10 families. (biomedcentral.com)
The new genes were identified based solely on rare deleterious missense variants, a variant type that could not be adequately assessed in either cohort alone. (biomedcentral.com)
However, the known susceptibility variants are incompletely penetrant, many individuals who carry monogenic risk variants never develop PAH, and a subset of patients have deleterious variants in more than one risk gene. (biomedcentral.com)
His current work is focused on two broad goals: (1) mapping variants and genes that confer risk to human disease, with ongoing projects focused on coronary artery disease and cardiometabolic traits in unique and underrepresented populations, and (2) developing methods for the detection and interpretation of human genome variation, with an emphasis on structural variation and other difficult-to-detect forms, and on comprehensive trait association in human disease studies. (yale.edu)
Autosomal dominant2
Early genetic linkage and candidate gene studies indicated an autosomal dominant mode of inheritance for PAH risk. (biomedcentral.com)
She uses genetic approaches to identify novel disease genes for dominantly inherited polycystic kidney and liver diseases: a phenotypic spectrum from autosomal dominant polycystic kidney disease (ADPKD) to isolated polycystic liver disease (PCLD), and both in vitro and animal models to further disease gene mechanism investigation. (yale.edu)
Hereditary1
Genes responsible for hereditary hearing loss are highly heterogeneous. (biomedcentral.com)
Genetic4
These data suggest that additional genetic, epigenetic, environmental factors, and gene × environment interactions contribute to disease. (biomedcentral.com)
Dr. Besse has an active research program recruiting patients with genetically unresolved polycystic kidney and/or liver disease or other inherited kidney diseases for projects involving gene/pathway discovery and variant analysis in genetic kidney diseases. (yale.edu)
Rapid advances in gene editing and genetic technologies have revolutionised our ability to model human genetic disease and provided new hope for gene therapies. (biologists.com)
Genetic factors are the main risk factors for NCPs, but environmental factors and abnormal gene-environment interactions can also lead to the development of NCPs. (chinagene.cn)
Drosophila1
Studies in Drosophila have identified this gene as encoding a positive regulator of the notch signaling pathway. (wikipedia.org)
Genetics2
He received a B.A. in Integrative Biology from the University of California at Berkeley (1998), and worked as a technician for 2 years in Sarah Hake's plant genetics group at the USDA/ARS Plant Gene Expression Center. (yale.edu)
He has also served as an Associate Editor at Genome Research (2009-2014) and Genes, Genomes and Genetics (2011-2018).Most recently, Dr. Hall has played a leadership role in several large collaborative projects funded by NIH/NHGRI including the Centers for Common Disease Genomics, the AnVIL cloud-based data repository and analysis platform, and the Human Pangenome Project. (yale.edu)
Chronic1
myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and fatigue. (nih.gov)
Transcription1
The life of a gene product, from transcription to degradation, is controlled by a series of regulatory decisions. (biomedcentral.com)
Patterns1
Review - Time for Radical Changes in Brain Stem Nomenclature - Applying the Lessons From Developmental Gene Patterns [1] "The traditional subdivision of the brain stem into midbrain , pons , and medulla oblongata is based purely on the external appearance of the human brain stem. (edu.au)
Human1
An increase in the expression of the human NEK2 gene is strongly associated with the progression of non-Hodgkin lymphoma. (umbc.edu)
Expression3
There is an urgent need to update the names of brain stem structures to be consistent with the discovery of rhomobomeric segmentation based on gene expression. (edu.au)
This essay recommends a new brain stem nomenclature based on developmental gene expression, progeny analysis, and fate mapping. (edu.au)
CREB phosphorylation and CREB activity increase, which in turn promotes the expression of PGC1 family member genes. (epiphanyasd.com)
Inheritance1
Further, according to Online Mendelian Inheritance in Man (OMIM), hundreds of genes are associated with syndromic hearing loss. (biomedcentral.com)
Detection2
With the development of high-throughput sequencing technology, gene mutation detection has become another important resource to investigate regulatory mechanisms and cellular processes. (hindawi.com)
however, it is not suitable for detection of very rare or novel deafness genes. (biomedcentral.com)
Investigation1
The goal of her lab is to have the identification of novel disease genes serve as an entry point for molecular biology investigation that contributes to a better understanding of disease mechanism and the identification of successful targets for treatments. (yale.edu)
Analysis1
Sets of prioritized genes can be modified during analysis to increase the number of targeted genes, without resequencing the same samples. (biomedcentral.com)
Unique1
Neural crest cells (NCCs) are multipotent progenitor cells unique to vertebrates, and they have the ability to differentiate into a variety of cells, such as chondrocytes, neurons, and melanocytes. (chinagene.cn)
Type1
However, overexpression of a wild-type allele did not affect life span, showing a specific effect of the gain-of-function allele independently of a gene dosage effect. (sdbonline.org)