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AEC syndrome mouse model p63 protein aggregation Skin Animals Cleft Lip Cleft Palate Ectoderm Eye Abnormalities Frameshift Mutation HEK293 Cells Heterozygote Humans Mice Mutation Mutation Missense Phosphoproteins Protein Binding Protein Denaturation Skin Trans-Activators Transcription Factors Transcription Genetic Tumor Suppressor Proteins

TUB Cilia obesity retinal dystrophy tubby Adaptor Proteins Signal Transducing Child Chromosome Mapping Consanguinity Eye Proteins Female Frameshift Mutation Genes Recessive Homeostasis Homozygote Humans Male obesity Pedigree Proteins Retinitis Pigmentosa United Kingdom White People

Amyotrophic Lateral Sclerosis Animals Frameshift Mutation Heterogeneous-Nuclear Ribonucleoprotein Group A-B Heterozygote Humans Muscular Dystrophy Oculopharyngeal

Plasmodium species are frequently host-specific, but little is currently known about the molecular factors restricting host switching. This is particularly relevant for P. falciparum, the only known human-infective species of...

Animals CRISPR-Cas Systems Cell Engineering Erythrocytes evolution Molecular Frameshift Mutation Gene Editing HEK293 Cells Host Specificity Humans Loss of Function Mutation Malaria Falciparum Pan troglodytes Plasmodium falciparum Protozoan Proteins Sialic Acids

BACKGROUND: Germline pathogenic variants in the E-cadherin gene (CDH1) are strongly associated with the development of hereditary diffuse gastric cancer. There is a paucity of data to guide risk assessment and management of...

Adult Aged Ataxia Telangiectasia Mutated Proteins BRCA2 Protein Cell Cycle Proteins Clinical Decision-Making Fanconi Anemia Complementation Group N Protein Female Frameshift Mutation Genetic Predisposition to Disease Germ-Line Mutation Humans Loss of Function Mutation Male Middle Aged MutS Homolog 2 Protein Mutation Missense Nuclear Proteins RecQ Helicases Stomach Neoplasms Exome Sequencing Young Adult

Biopsy CARD Signaling Adaptor Proteins DNA-Binding Proteins Exome Frameshift Mutation Gene Rearrangement B-Lymphocyte Heavy Chain genetic variation Genotype Guanylate Cyclase Humans Intracellular Signaling Peptides and Proteins Kruppel-Like Transcription Factors Lymphoma Lymphoma B-Cell Marginal Zone Mutation Mutation Missense Nuclear Proteins Polymerase Chain Reaction Receptor Notch2 Recurrence Sequence Analysis DNA Signal Transduction Splenic Neoplasms Tumor Necrosis Factor alpha-Induced Protein 3

POC1A centriole Centrosome Diabetes dyslipidaemia Insulin Resistance primary cilium short stature skeletal dysplasia Adult Amino Acid Sequence Body Height Cell Cycle Cell Cycle Proteins Centrioles Centrosome Cytoskeletal Proteins Dwarfism Facies Fatty Liver Female Frameshift Mutation Humans Insulin Resistance Mitosis Molecular Sequence Data Protein Isoforms Proteins Sequence Alignment Spindle Apparatus

Base Sequence DNA Frameshift Mutation Models Molecular Nucleic Acid Conformation Oligonucleotides Thermodynamics

We investigated whether small RNA (sRNA) sequenced from field-collected mosquitoes and chironomids (Diptera) can be used as a proxy signature of viral prevalence within a range of species and viral groups, using sRNAs sequenced...

Animals Base Sequence Codon Culicidae Diptera Entomobirnavirus Frameshift Mutation Genome Viral Insect Viruses Molecular Sequence Data Phylogeny Polymorphism Genetic RNA Viral Reading Frames Reproducibility of Results Sequence Alignment Sequence Analysis DNA Untranslated Regions

Canine progressive retinal atrophies (PRA) are genetically heterogeneous diseases characterized by retinal degeneration and subsequent blindness. PRAs are untreatable and affect multiple dog breeds, significantly impacting...

PRA Canine Dog progressive retinal atrophy Retinal Degeneration Adaptor Protein Complex alpha Subunits Animals Atrophy Breeding Dog Diseases Dogs Endocytosis Frameshift Mutation Genome-Wide Association Study Genotype Humans Retina Retinal Degeneration Synapses whole genome sequencing

1-Acylglycerol-3-Phosphate O-Acyltransferase 3T3-L1 Cells Adipocytes White Adolescent Adult Amino Acid Sequence Animals Base Sequence Carrier Proteins Diabetes mellitus Type 2 Family Health Female Frameshift Mutation Humans Hyperlipoproteinemia Type IV Insulin Resistance lipodystrophy Familial Partial Male Mice Middle Aged Molecular Sequence Data Mutagenesis Site-Directed Pedigree Perilipin-1 Phosphoproteins

BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1...

Cardiomyopathy ketogenic diet lactic acidosis mitochondrial disease Mitochondrial translation optimization 1 Oxidative Phosphorylation Defect Adolescent Biopsy Brain Cardiomyopathy Hypertrophic Carrier Proteins Child Child Preschool Female Frameshift Mutation Hepatic encephalopathy Humans Infant Infant Newborn Male metabolism Inborn Errors Mitochondrial Diseases Oxidative Phosphorylation RNA-Binding Proteins

BACKGROUND: Hereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot family with autosomal dominant microscopic...

COL4A1 familial nephropathy genetic renal disease glomerular basement membrane type IV collagen Collagen Type IV DNA DNA Mutational Analysis Female Frameshift Mutation Genetic Linkage Genotype Humans Male nephritis Hereditary Pedigree Polymerase Chain Reaction

Bile Acids and Salts Cholestasis Consanguinity DNA Helicases Exome Female Frameshift Mutation Humans Infant Liver Diseases Male Oxidoreductases Phenotype Sequence Analysis DNA Severity of Illness Index