• However, other gene variants also contribute to the prevalence of FH. (acc.org)
  • Variants (also known as mutations) in and near the TAF1 gene can cause X-linked dystonia-parkinsonism. (medlineplus.gov)
  • Biallelic variants in the cilia gene DYNC2H1 have been associated with two severe ciliopathies: Jeune asphyxiating thoracic dystrophy (JATD, MIM 613091) and short-rib polydactyly (SRP, MIM 613091) with only four documented cases of associated complex early retinal degeneration at ages 2 months, and 2, 5, and 11 years old. (nature.com)
  • Apolipoprotein E (APOE) gene variants have been reported to influence psoriasis risk. (hindawi.com)
  • Inheritance being multifactorial, genetic variants in multiple genes interact both with each other and with the environment [ 13 - 20 ]. (hindawi.com)
  • Poxvirus adaptation can involve combinations of recombination-driven gene copy number variation and beneficial single nucleotide variants (SNVs) at the same loci. (elifesciences.org)
  • In order to expand our understanding of how recombination might influence virus variation during the course of adaptation, we focused on large DNA viruses, in which rapidly evolving populations can simultaneously harbor both adaptive gene copy number variation and beneficial single nucleotide variants (SNVs) at the same locus. (elifesciences.org)
  • The results have demonstrated that many new variants of the coa gene are present in Minia, Egypt, different from those reported in the previous studies. (hindawi.com)
  • The data from Hapmap database show that variants of PTPN11 gene present great varieties in different ethnicities. (biomedcentral.com)
  • Candidate gene variants of the immune system and sudden infant death syndrome. (cdc.gov)
  • Variation in antimicrobial susceptibility (9) ae O1 El Tor strain to O139. (cdc.gov)
  • Tumorigenesis in retinoblastoma is due to inactivation of both alleles of the RB susceptibility gene RB1.6,7 RB1 is a tumor suppressor gene whose deletion or mutation causes unregulated proliferation of embryonal retinal cells. (paojournal.com)
  • These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)
  • Susceptibility/resistance of human populations to severe falciparum malaria has been associated with variations in more than 30 genes. (biomedcentral.com)
  • Single nucleotide polymorphisms (SNPs) in genes encoding CD36, ICAM-1 and PECAM-1 have been previously correlated with disease protection/susceptibility from different populations but these reports have often been contradictory. (biomedcentral.com)
  • Denys-Drash syndrome (DDS) is a rare disorder consisting of the triad of congenital nephropathy, Wilms tumor , and intersex disorders resulting from mutations in the Wilms tumor suppressor ( WT1 ) gene. (medscape.com)
  • Denys-Drash syndrome is the result of mutations in the WT1 gene on chromosome band 11p13. (medscape.com)
  • Point mutations in the WT1 gene result in loss of its regulatory function, with the consequent abnormalities in glomerular formation and gonadal differentiation seen in Denys-Drash syndrome. (medscape.com)
  • Mutations that disrupt the second alternative splicing site of the WT1 gene alter the normal ratio of KTS-positive/negative isoforms from 2:1 to 1:2 and result in abnormalities in glomerular formation and gonadal differentiation seen in Frasier syndrome. (medscape.com)
  • 4 And in 1983, Russell and colleagues cloned the LDLR gene, which allowed for molecular-level analysis of receptor mutations. (acc.org)
  • 6 There are also rare forms of FH that result from mutations in genes for apolipoprotein B-100 (ApoB), proprotein convertase subtilisin/kexin type 9 (PCSK9), 8 and the low-density lipoprotein receptor adaptor protein 1 (LDLRAP1), which causes a rare form of autosomal recessive FH. (acc.org)
  • One theory to explain the high frequency of FH in some populations is the founder effect, which is the loss of genetic variability in a population that occurs when a new population is formed through the migration of a small number of individuals who carry a higher proportion of FH mutations by chance. (acc.org)
  • 20 All three of these mutations have been detected in lower frequencies in the Netherlands, which is consistent with the founder effect. (acc.org)
  • Multiple endocrine neoplasia syndrome type 1 (MEN-1), loss-of-function germline mutations in the tumor suppressor gene MEN1 increase the risk of developing pituitary, parathyroid and pancreatic islet tumors, and less commonly thymic carcinoids, lipomas and benign adrenocortical tumors. (intechopen.com)
  • Several skeletal dysplasias in specific dog breeds have been associated with mutations in members of the collagen gene family or its binding proteins ( 8 - 10 ), fibrilin related protein ( 11 ), as well as an altered sulfate transporter protein ( 12 ). (frontiersin.org)
  • The varied genotype-phenotype relationships in RB are due to the wide array of genetic variations linked to RB1, which include chromosomal rearrangements, large exonic deletions, hypermethylation of the gene promoter region, small length mutations, and single nucleotide substitutions. (paojournal.com)
  • We initiated this study to detect and characterize the RB1 gene mutations in tumor samples collected from Filipino patients with retinoblastoma. (paojournal.com)
  • We identified and characterized the type of mutations in exons 13-21 of the RB1 gene by polymerase chain reaction (PCR) amplification and sequencing and correlated the mutations with patients' clinical presentation and family history. (paojournal.com)
  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator ( AIRE) gene. (biomedcentral.com)
  • Here, we investigated AIRE gene mutations in eight independent Iranian non-Jewish families. (biomedcentral.com)
  • We sequenced the coding regions of the AIRE gene and documented mutations which were further confirmed in respective parents. (biomedcentral.com)
  • Here, we reported two novel mutations in the AIRE gene leading to APECED. (biomedcentral.com)
  • Several mutations in the AIRE gene correlate with development of organ-specific autoimmune diseases with a monogenic autosomal recessive inheritance pattern. (biomedcentral.com)
  • 15. Genetic variation in a population arises due to (a) recombination only (b) mutation as well as recombination (c) reproductive isolation and selection (d) mutations only. (recruitmenttopper.com)
  • Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. (lu.se)
  • Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
  • [ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
  • BACKGROUND Polymorphisms in transforming growth factor (TGF)-β 1 associated with variations in cytokine levels are linked to fibrosis in a number of tissues. (bmj.com)
  • This study was undertaken to examine the association between TGF-β 1 gene polymorphisms and the development of pulmonary dysfunction in patients with cystic fibrosis. (bmj.com)
  • METHODS Polymorphisms in the TGF-β 1 gene defining amino acids of codons 10 and 25 were determined by ARMS-PCR using DNA stored on 171 Caucasian patients who were homozygous for the ΔF508 mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (bmj.com)
  • 3 , 4 Production of TGF-β 1 varies between individuals and partly depends on polymorphisms in the TGF-β 1 gene at positions +869 and +915 encoding codons 10 and 25. (bmj.com)
  • 12 In this study we have investigated the correlation between high TGF-β 1 production and pulmonary dysfunction in cystic fibrosis by determination of polymorphisms in the TGF-β 1 gene. (bmj.com)
  • In addition, we discuss reports on the interactions of OXT and AVP receptor genes and genes involved in other pathways (such as those of dopamine, serotonin, and reelin), as well as research that has shed some light on the impact of gene polymorphisms on the volume, connectivity, and activation of specific neural structures, differential receptor expression, and plasma levels of the OXT and AVP peptides. (frontiersin.org)
  • Of these mediators, cytokines play a single nucleotide polymorphisms (SNP) in pro-inflammatory cytokine genes and asthma phenotypes (Che et al. (cdc.gov)
  • Single nucleotide polymorphisms (SNPs) of protein tyrosine phosphatase, non-receptor 11 ( PTPN11 ) gene, which encodes SHP2, may be associated with serum lipid levels via changing the activity of SHP2 on lipometabolism. (biomedcentral.com)
  • Polymorphisms in genes of respiratory control and sudden infant death syndrome. (cdc.gov)
  • Three of them (PX-1, PX-2, GOT-1) seem to be more or less influenced by selection since their allelic frequencies are related to climatic conditions. (afs-journal.org)
  • 1992 and by 1993 had been found throughout the Indian and in recA sequence (8) has been interpreted as evidence subcontinent. (cdc.gov)
  • 22 The majority had a common mutant allele, a 3-base pair deletion in exon 4 of the LDLR gene 23 called FH-Piscataway. (acc.org)
  • The frequency of ε 3 allele and ε 3/ ε 3 genotype was significantly lower in patients. (hindawi.com)
  • 14. Random unidirectional change in allele frequencies that occurs by chance in all populations and especially in small populations is known as (a) migration (b) natural selection (c) genetic drift (d) mutation. (recruitmenttopper.com)
  • Nevertheless, the result will be the same when it does occur-the recombination of genes. (wikipedia.org)
  • Following duplication events, the resulting stretches of homologous sequence can promote recombination between gene copies. (elifesciences.org)
  • All 27 exons contribute to the 2.7 kb open reading frame which codes for a 110 KDa nuclear phosphoprotein known as pRB.8 pRB functions as a regulator of cellular replication.9 Any mutation in exons 13-21 of the RB1 gene, which code for the functional domain of the protein, will result in reduced function of pRB. (paojournal.com)
  • A mutation in codon 29 (K56M, rs5491) of the ICAM1 gene was identified in the Kilifi region of Kenya and homozygotes for the mutation were found to be more frequent in patients suffering from cerebral malaria than in controls [ 7 ]. (biomedcentral.com)
  • A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report. (lu.se)
  • Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. (lu.se)
  • The current study aimed to use Coagulase gene polymorphism to identify methicillin-resistant Staphylococcus aureus (MRSA) subtypes isolated from nasal carriers in Minia governorate, Egypt, evaluate the efficiency of these methods in discriminating variable strains, and compare these subtypes with antibiotypes. (hindawi.com)
  • The aim of this study was to use coa gene polymorphism to identify MRSA subtypes isolated from nasal carriers in Minia governorate, Upper Egypt, evaluate the efficiency of these typing methods in discriminating variable strains, and compare these subtypes with antibiotypes. (hindawi.com)
  • The frequencies of alleles ε 2, ε 4, and genotypes ε 3/ ε 4 and ε 3/ ε 2 were significantly higher in psoriasis patients compared with those in controls. (hindawi.com)
  • Acta paediatrica (Oslo, Norway : 1992) 2017 Sep 106 (9): 1474-1480. (cdc.gov)
  • The frequencies exhibit considerable variation in different geographic locations, reflecting the underlying genetic and ethnic diversity of human populations [3]. (who.int)
  • We performed experimental evolution with vaccinia virus populations harboring a SNV in a gene actively undergoing copy number amplification. (elifesciences.org)
  • The frequency distribution of seven selected SNPs of ICAM1 , PECAM1 and CD36 was determined in 552 individuals drawn from 24 populations across India. (biomedcentral.com)
  • 11. Variation in gene frequencies within populations can occur by chance rather than by natural selection. (recruitmenttopper.com)
  • 1998). Population structure of nuclear and mitochondrial DNA variation among humpback whales in the North Pacific . (oregonstate.edu)
  • New methods of mapping offer a promising route to the identification of genetic markers for the genes of complex traits and provide a foundation for molecular enhanced breeding of maize. (cropscience.org.au)
  • Since that time, advances in scientific research and technology have led to a substantial increase both in the health conditions for which genetic defects or variations can be detected with molecular methods and in the spectrum of the molecular testing methods ( 1 ). (cdc.gov)
  • Exons 1-6 of the WT1 gene encode the regulatory domain, which regulates expression of target genes, and exons 7-10 encode the 4 zinc fingers of the DNA-binding region of the WT1 protein. (medscape.com)
  • The WT1 protein mediates the mesenchymal-epithelial transition and differentiation during morphogenesis of the kidney and gonad by repressing genes that encode cell proliferation factors and by activating genes that encode markers of epithelial cell differentiation. (medscape.com)
  • The gene encodes a transcriptional regulator, constructs nuclear bodies, and interacts with the transcriptional coactivator cAMP-response element-binding protein (CREB). (biomedcentral.com)
  • 1 , 2 In this study we have tested the hypothesis that this difference may be due partly to inherited variation in the ability of patients to express the profibrotic cytokine, transforming growth factor (TGF)-β 1 . (bmj.com)
  • Higher frequencies of primary and embryogenic callus and regeneration efficiency were obtained from the use of 1 mg L -1 2,4-dichlorophenoxyacetic acid indicating this as optimal level for regenerating these genotypes. (scialert.net)
  • Besides those external factors, internal molecular mechanisms also play an important role in the geographic variation of acoustic signals, because phenotypic changes indicate changes in gene expression, and genotypes can affect gene expression based on interactions between genotypes and the environment [ 15 ]. (biomedcentral.com)
  • Previous studies have reported that different genotypes of PTPN11 gene (protein tyrosine phosphatase, non-receptor 11) were associated with different levels of serum lipids. (biomedcentral.com)
  • It can also occur during mitosis but at a much lower frequency because the chromosomes do not pair in a regular arrangement. (wikipedia.org)
  • In females (who have two X chromosomes), a variant typically must occur in both copies of the gene to cause the disorder. (medlineplus.gov)
  • The identified isolates were tested by Coagulase gene RFLP typing. (hindawi.com)
  • Its significance in nature is largely unknown and will depend on the frequency of heterokaryosis, determined by cytoplasmic incompatibility barriers and it is also useful in rDNA technology. (wikipedia.org)
  • We summarise the evidence for the adaptive importance of cytoplasmic genes before detailing coadaptation between the cytoplasm and the nucleus, and amongst cytoplasmic components. (nature.com)
  • The aim of this study was to investigate the association of SNPs of three adhesion molecule genes, ICAM1 , PECAM1 and CD36 , with severity of falciparum malaria in a malaria-endemic and a non-endemic region of India. (biomedcentral.com)
  • The aim of this study was to explore the association of tagging SNPs of PTPN11 gene and lipid levels in Chinese normal people. (biomedcentral.com)
  • or the transmembrane protein gene cassettes of some pathogenic bacteria ( Santoyo and Romero, 2005 ), gene conversion can also generate sequence diversity. (elifesciences.org)
  • In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. (medlineplus.gov)
  • Toward determining the presence of constitutional aneuploidy in the human brain, we report here an analysis of the frequency of chromosome 21 gain and loss among neurons and non-neuronal cells isolated from the cerebral cortex and hippocampus of normal individuals ranging from 2 to 86 years of age. (jneurosci.org)
  • In X-linked recessive inheritance, females with one altered copy of the gene in each cell are called carriers. (medlineplus.gov)
  • Additionally, the gene ERBB4 , which regulates diverse cellular processes in the inner ear such as cell proliferation and differentiation, was in the largest module. (biomedcentral.com)
  • Geographic variation in these traits is usually mediated by adaptive processes rather than random processes like genetic drift [ 6 ]. (biomedcentral.com)
  • Therefore, the sensory drive hypothesis, which predicts a close association between the geographic variation of sensory signals and environmental variables, has been proposed to explain how environments affect signal traits and sensory systems [ 7 ]. (biomedcentral.com)
  • Researchers believe that some of these variations are critical for the normal function of nerve cells (neurons) in the brain. (medlineplus.gov)
  • However, they suspect that the changes disrupt the regulation of critical genes in neurons. (medlineplus.gov)
  • Although little intraspecific variation was evident, the marker was polymorphic in slash pine. (researchgate.net)
  • An epidemic of cholera began in Madras, India, in 1992 ly derived isolates (17). (cdc.gov)
  • The data highlights the significance of variations in the ICAM1 , PECAM1 and CD36 genes in the manifestation of falciparum malaria in India. (biomedcentral.com)
  • The role of PTPN11 gene on lipid profile has not been described in Chinese so far. (biomedcentral.com)
  • Then Berger analyzes the resulting data, predicts how changes in gene expression affect cancer development, and passes those predictions along to biology professor and Koch Institute researcher Ömer Yilmaz, who validates them in studies on mice and human organoids. (technologyreview.com)
  • The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). (medlineplus.gov)
  • This protein is active in cells and tissues throughout the body, where it plays an essential role in regulating the activity of most genes. (medlineplus.gov)
  • Lastly, all of these factors can be complicated by environmental variation with phenotypic plasticity. (biomedcentral.com)
  • Our analysis uncovered a mechanism of adaptive SNV homogenization reminiscent of gene conversion, which is actively driven by selection. (elifesciences.org)
  • 1 These prevalence estimates were based on the frequency of FH in survivors of myocardial infarction and their relatives in the U.S. 10 Researchers have found similar frequencies in the United Kingdom, Japan, Norway, Hungary, and Finland. (acc.org)
  • Although hundreds of genes are known to be mutated in cancers our understanding of mutational events in cancer cells remains incomplete ( Futreal PA et al, 2004 ). (intechopen.com)
  • As we are in the era of evidence-based molecular diagnosis, predictive testing, genetic counseling, gene-informed cancer risk assessment, and preventative and personalized medicine, therefore, studying the Mendelian genetics of the familial forms of cancer is one approach that can set up the basis for gene-informed risk assessment and management for the patient and family. (intechopen.com)
  • 1 In 1938, Müller linked xanthomas, elevated cholesterol, and coronary heart disease to an in-born error of metabolism from a single gene defect. (acc.org)
  • Variation in restriction fragment ed from patients seen at the Infectious Diseases Hospital, Calcutta, from 1992 to 2000 (see Appendix, online only). (cdc.gov)
  • Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases. (cdc.gov)
  • However, few studies have explored long term trends in morphological variation. (biomedcentral.com)
  • Therefore, in this study we assessed long term morphological variation with body size, sex, time, and hydrology using museum collections of five species of Cyprinidae (Minnows) from lentic and lotic systems over the past 100 years to gain insight into long term patterns in morphology. (biomedcentral.com)
  • Long term changes in morphological variation provide a link to exploring functional relationships between taxa and their environment and have implications for understanding ecosystem attributes, community assembly patterns, and conservation. (biomedcentral.com)
  • Physiological influences are frequently identified as morphological relationships with body size (allometry), diet (feeding performance), and sex (sexual selection) while plasticity tends to respond to local environmental variation related to niche patterns of resource utilization, behavior, and/or habitat use [ 5 , 8 - 11 ]. (biomedcentral.com)
  • DNA sequence analysis of the 3′-end of the Coagulase ( coa ) gene revealed heterogeneity in the 81 bp tandem repeats region that encoding repeated 27-amino-acid sequences in the C-terminal region. (hindawi.com)
  • 14 Epidemiological surveys of individuals with clinical FH suggest the frequency of HeFH is ten-fold higher and an HoFH prevalence of 1:100,000. (acc.org)
  • In 1992, the regulations for the Clinical Laboratory Improvement Amendments of 1988 (CLIA) were published and began to be implemented. (cdc.gov)
  • The high penetrance of intervertebral disc disease (IVDD) associated genes in many popular dog breeds presents a daunting clinical challenge and results in millions, if not billions of dollars of annual veterinary treatment-related expense and suffering. (frontiersin.org)
  • Once a diploid nucleus has formed by fusion of two haploid nuclei from different parents, the parental genes can potentially recombine. (wikipedia.org)
  • 1994). Hierarchical structure of mitochondrial DNA gene flow among humpback whales Megaptera novaeangliae, world-wide . (oregonstate.edu)
  • The vast majority of genes in eukaryotes are located within chromosomal structures in the nucleus of the cell. (nature.com)
  • Although the sensory drive hypothesis can explain the geographic variation in echolocation frequencies of some bat species, the molecular mechanisms underlying this phenomenon are still unclear. (biomedcentral.com)
  • The three lineages of greater horseshoe bat ( Rhinolophus ferrumequinum ) in China (northeast, central-east, and southwest) have significant geographic variation in resting frequencies (RF) of echolocation calls. (biomedcentral.com)
  • Because their cochleae have an acoustic fovea that is highly sensitive to a narrow range of frequencies, we reported the transcriptomes of cochleae collected from three genetic lineages of R. ferrumequinum , which is an ideal organism for studying geographic variation in echolocation signals, and tried to understand the mechanisms behind this bat phenomenon by analyzing gene expression and sequence variation. (biomedcentral.com)
  • The variability of gene expression and sequence divergence at the molecular level might provide evidence that can help elucidate the genetic basis of geographic variation in echolocation signals of greater horseshoe bats. (biomedcentral.com)
  • This is also true for fungi where the sexual phase is present, although in this case, additional and significant variation is incorporated through the sexual reproduction. (wikipedia.org)
  • We evaluated nine loci-- dnaE, lap, recA, pgm, gyrB, Genetic variation observed in O139 isolates has been cat, chi, rstR, and gmd-- from 96 V. cholerae O139 isolat- attributed to many causes. (cdc.gov)
  • The total gene diversity is higher for only 1 out of 6 loci in the continental region. (afs-journal.org)
  • Gene-nutrient interactions may help explain this variability in response to food that is associated with IBD. (mdpi.com)
  • It identifies gene-nutrient interactions associated with the nutritional deficiencies that people with IBD commonly experience, and the role of the Western diet in influencing these. (mdpi.com)
  • Since 1992, O139 strains isolates. (cdc.gov)
  • Hence there is a need to diversify the genetic basis of the locally adapted germplasm by introgressing genes responsible for improving tolerance to drought stress. (scialert.net)
  • 1 Technological advances have resulted in the identification of over 300 IRD genes to date ( https://sph.uth.edu/retnet/ ). (nature.com)
  • Though conventional breeding led to identification of improved varieties having mechanisms of drought escape and/or tolerance, any year to year variation in rainfall is still seen as a year to year variation in yield, with low rainfall years yielding less than high rainfall years. (scialert.net)
  • The major reason for such yield variation is lack of improved varieties having sufficient level of tolerance to drought stress. (scialert.net)
  • These findings, in addition to future functional assays, can elucidate disease-causing mechanisms related to the AIRE gene and assist in genetic counseling and diagnosis. (biomedcentral.com)
  • This means that transmission is likely to be frequency-dependent with no threshold density for disease maintenance. (springer.com)
  • It has been suggested that devil population numbers may have fluctuated substantially in the 19th century, perhaps in association with disease (Guiler, 1964, 1992). (springer.com)
  • We also found 49 unigenes that were under positive selection from 4105 one-to-one orthologous gene pairs between the three R. ferrumequinum lineages and three other Chiroptera species. (biomedcentral.com)
  • Why do species harbor so much trait variation within them, which, in some cases, is as pronounced as that normally seen between species (e.g., see Fig. 1.1c)? (ucpress.edu)
  • These results suggest that competition in fertilization is quite intense and mating frequency in the wild is relatively high in this species. (springer.com)
  • How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)