• Transmembrane protein 8B is a protein that in humans is encoded by the TMEM8B gene. (wikipedia.org)
  • We have narrowed the interval containing the gene causing BBS on chromosome 16 to a 1.5 Mb interval and are analyzing trapped exons as possible candidate genes for BBS. (bgu.ac.il)
  • Identification of the gene causing BBS on chromosome 16 could aid in the identification of the other BBS loci and could help in the understanding of RP and polygenic disorders such as obesity and hypertension. (bgu.ac.il)
  • MAGOHB is the top gene dependency in cells with hemizygous MAGOH deletion, a pervasive genetic event that frequently occurs due to chromosome 1p loss. (nih.gov)
  • The PAH gene, also known as phenylalanine hydroxylase, is located on the long arm of the autosomal chromosome 12 between positions 22 and 24.2 in humans. (tu-muenchen.de)
  • This gene consists of 13 exons and 12 introns, after the introns of the pre-mature mRNA are spliced away a length of only 2,681 bps is left on the transcript. (tu-muenchen.de)
  • Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT-JT. (nih.gov)
  • Mutations in the recently identified MEN1 gene at chromosome 11q13 have been found in parathyroid tumors of nonfamilial pHPT. (lu.se)
  • Using microsatellite analysis for loss of heterozygosity (LOH) at 11q13 and DNA sequencing of coding exons, the MEN1 gene was studied in 49 parathyroid lesions of patients with divergent symptoms, operative findings, histopathological diagnosis, and biochemical signs of nonfamilial pHPT. (lu.se)
  • Allelic loss at 11q13 was detected in 13 tumors, and 6 of them demonstrated previously unrecognized somatic missense and frameshift deletion mutations of the MEN1 gene. (lu.se)
  • To date the tau gene located on chromosome 17 has been shown to be implicated in the pathogenesis of several FTD families with parkinsonism, the so called FTDP-17 families. (unige.ch)
  • However, if we except two silent polymorphic sites at position 227 and 255 in exon 9, neither a known FTDP-17 mutation nor a novel one was detected in this region of the tau gene. (unige.ch)
  • Thus, the existence of a yet unknown mechanism of neurodegeneration, other than via mutations near or within the microtubule-binding sites, or the exon 10 splice sites of the tau gene, has to be considered to explain dementia in this family. (unige.ch)
  • Comparison of our mouse exon-skipping events to previously detected human exon-skipping events on chromosome 22 by Hide et al.2001, has revealed that mouse and human exon-skipping events were never observed together within an orthologous gene-pair. (uwc.ac.za)
  • Although the transcript identity between mouse and human orthologous transcripts were high (greater than 80% sequence identity), the exon order in these gene-pairs may be different between mouse and human orthologous genes. (uwc.ac.za)
  • Our conclusion that the mouse exon-skipping frequency may be lower than the human estimate remains to be tested with a larger mouse multi-exon gene set. (uwc.ac.za)
  • The gene encoding Sec31B is located on chromosome 10q24 and contains 29 exons. (biologists.com)
  • The presence of a stop codon in exon 13 generates two families of Sec31B gene products (each displaying additional patterns of mRNA splicing): a group of full-length proteins (hereafter referred to as Sec31B-F) and also a group of truncated proteins (hereafter referred to as Sec31B-T), distinguished by their utilization of exon 13. (biologists.com)
  • The KIT gene is rather complex consisting of 21 exons in a 70 kb region. (creation.com)
  • Of the 13 patients with pathogenic gene mutations, five (38.5%) were affected by mutations in lens crystallin genes, three (23%) were affected by mutations in connexin genes, three (23%) were affected by mutations in transcription factor genes, one (7.7%) was affected by a mutation in a transmembrane transporter gene, and one (7.7%) was affected by a mutation in a chromatin-modifying protein gene. (molvis.org)
  • Haplotype analysis revealed a chromosome region of 475 kb containing the mutation in the GJA8 gene was harbored by two families. (molvis.org)
  • 13 14 Although p16 INK4a is most frequently inactivated by homozygous deletion, point mutations or somatic methylation of 5′ regulatory regions are also important mechanisms of gene inactivation. (bmj.com)
  • β-thalassemia results from numerous mutations or rarely deletions of the β globin gene on chromosome 11. (scirp.org)
  • Sickle cell disease ( SCD ) is considered as one of the commonest gene disorders of human beings. (scirp.org)
  • Sickle cell disease is an inherited genetic disorder, resulting from homozygous and compound heterozygote mutation in the β globin gene as a single base-pair point mutation (GAG to GTG) results in the substitution of glutamic acid (hydrophilic) to Valine (hydrophobic) in the 6th position of the β-chain of hemoglobin resulting in hemoglobin S formation [7]. (scirp.org)
  • The human being FAK (also called PTK2, protein tyrosine kinase 2) gene continues to be mapped to chromosome 8 (15, 16). (cahrr.org)
  • The gene Snr1 coding series consists of 34 exons, and genomic series spans 230 kb (18). (cahrr.org)
  • AceView: gene:him-8, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView. (nih.gov)
  • Genomic structural variants constitute the majority of variable base pairs in primate genomes and affect gene function in multiple ways. (nature.com)
  • While whole gene duplications and deletions are relatively well-studied, the biology of subexonic ( i.e. , within coding exon sequences), copy number variation remains elusive. (nature.com)
  • a) Genomic location, organization and subexonic copy number variation of the MUC7 gene in the human reference genome (GRCh37/hg19). (nature.com)
  • Thirty-four years later, the mutation underlying staggerer was reported: a 6.4-kb deletion that removes an exon of the retinoic acid-related orphan receptor alpha ( ROR α) gene and causes a frameshift and premature stop codon. (nature.com)
  • Methods A next-generation sequencing (NGS) panel was created for the human TRPV1 gene and in addition, for the leukotriene receptors BLT1 and BLT2 recently described to modulate TRPV1 mediated sensitisation processes rendering the coding genes LTB4R and LTB4R2 important co-players in pharmacogenetic approaches involving TRPV1. (researchgate.net)
  • The apolipoprotein E (APOE) gene is located on chromosome 19 and encodes a glycoprotein that is 299 amino acids long. (dovepress.com)
  • We report here a functionally annotated human gene index placed directly on the genome. (biomedcentral.com)
  • Some of the best available ab initio gene prediction programs have been extended and have become more accurate by exploiting additional extrinsic data sources such as protein or EST sequences [ 13 ]. (biomedcentral.com)
  • Most of the above mentioned programs use statistical models of sub-structures of genes such as splice sites, exons or introns to derive evidences about the gene structure. (biomedcentral.com)
  • In this variant, a 16-base pair frame shift duplication occurs at exon 15 of the HPS1 gene. (medscape.com)
  • Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. (inra.fr)
  • Our analysis suggests that both inter- and intrachromosomal segmental duplications have impacted on the gene count on chromosome 10. (inra.fr)
  • The structure of the human and mouse gene contains eight coding exons and is located on chromosome 16 (28,41). (pancreapedia.org)
  • Burke JHwang PAnderson LLebo RGorin FFletterick R Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase. (jamanetwork.com)
  • Bartram CEdwards RHTClague JBeynon RJ McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. (jamanetwork.com)
  • The CYP1A1 gene is located on 15q22-q24 [ 8 ], contains 7 exons and 6 introns and spans 5810 base pairs. (springeropen.com)
  • The CYP1A1 3801T/C (also named MspI polymorphism, *2A or m1), results from a replacement of thymine by a cytosine at the 3801st base pair in the 3' flanking region of the gene [ 9 , 10 ]. (springeropen.com)
  • HPS-2 is caused by a mutation in the gene encoding the beta-3A subunit of the heterotetrameric AP3 complex (ADTB3A), which resides on chromosome 5. (medscape.com)
  • HPS4 involves the human homolog of the mouse light-ear gene. (medscape.com)
  • 5] Syrzycka et al[6] demonstrated that the pink gene encodes the Drosophila ortholog of the human HPS5 gene. (medscape.com)
  • 10976 in exon 8 in the catalytic region of ing factors that may increase cardiovascu- the FVII gene and an insertion of a decanu- lar disease. (who.int)
  • Recently several reports have cleotide (designated as 0/10 bp) in the pro- focused on the association between the moter region of the gene at position -323 factor VII of the cascade coagulation and [ 13,14 ]. (who.int)
  • Over 20 3′ terminal exons were trapped in the disease interval and are being analyzed as candidate genes for BBS. (bgu.ac.il)
  • Several alternative splicing surveys have confirmed the frequent occurrence of exon skipping in human genes. (uwc.ac.za)
  • However, the occurrence of exon skipping in mouse genes has not yet been extensively examined. (uwc.ac.za)
  • Recent improvements in mouse genome sequencing have permitted the current study to explore the occurrence of exon skipping in mouse genes orthologous to human genes on chromosome 22. (uwc.ac.za)
  • A low number (5/72 multi-exon genes) of mouse exon-skipped genes were captured through alignments of mouse ESTs to mouse genomic contigs. (uwc.ac.za)
  • Exon-skipping events in two mouse exon-skipped genes (GNB1L, SMARCB1) appear to affect biological processes such as electron and protein transport. (uwc.ac.za)
  • These factors resulted in a large number (112/269) of mouse transcripts lacking matches to mouse genomic contigs and nearly half (12/25) of the mouse multi-exon genes, which have matching Ensembl transcript identifiers, have under-predicted exons. (uwc.ac.za)
  • However, when compared to a higher estimate (52/347) of exon skipping in human genes for chromosome 22 produced under similar conditions by Hide et al.2001, it is possible that our mouse exon-skipping frequency may be lower than the human frequency. (uwc.ac.za)
  • However, the mouse exon-skipping frequency may represent the highest estimate that can be obtained given that the current number (87) of mouse genes orthologous to chromosome 22 in Ensembl (v1 30th Jan. 2002) does not deviate significantly from our total number (72) of mouse multi-exon genes. (uwc.ac.za)
  • In the process of transcription in prokaryotes 1) rRNA is specified by exons in DNA 2) mRNA is formed as coded by introns 3) the base sequence of DNA is copied into tRNA 4) a str and of mRNA is for med with base sequences complementar y to those of DNA 5) a polypeptide is formed as specified by the genes in a chromosomes 13. (studyres.com)
  • The NGS workflow was based on a custom AmpliSeq™ panel and designed for sequencing of human genes on an Ion PGM™ Sequencer. (researchgate.net)
  • A cohort of 80 healthy subjects of Western European descent was screened to evaluate and validate the detection of exomic sequences of the coding genes with 25 base pair exon padding. (researchgate.net)
  • This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
  • The current coverage is, however, sufficient for the Human Genome Project to enter a new phase, in which the entire sequence can be analyzed to identify genes, regulatory regions and other genomic elements and structures. (biomedcentral.com)
  • Public attention surrounding completion of the draft human sequence has fostered the impression that we are entering a 'post-genomic' era, and that description of genes and their functions is straightforward. (biomedcentral.com)
  • As a special case, AUGUSTUS+ can predict genes under user-defined constraints, e.g. if the positions of certain exons are known. (biomedcentral.com)
  • The aim of this study was to examine the structure of common variation ascertained in major U.S. populations by resequencing the exons and flanking regions of 3,873 genes in 154 chromosomes from European, Latino/Hispanic, Asian, and African Americans generated by the Genaissance Resequencing Project. (blogspot.com)
  • Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. (inra.fr)
  • Assessment of single base changes between the human chromosome 10 and chimpanzee sequence revealed nonsense mutations in only 21 coding genes with respect to the human sequence. (inra.fr)
  • We describe completion and analysis of 95.5 megabases (Mb) of sequence from chromosome 13, which contains 633 genes and 296 pseudogenes. (inra.fr)
  • We estimate that more than 95.4% of the protein-coding genes of this chromosome have been identified, on the basis of comparison with other vertebrate genome sequences. (inra.fr)
  • In 1944 it was realized that genetic transformation in bacteria was due to DNA and not protein and that DNA was the molecule responsible for heredity in genes and chromosomes [ 8 ]. (biomedcentral.com)
  • The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • Chromosome 1 likely contains 2,000 to 2,100 genes that provide instructions for making proteins. (medlineplus.gov)
  • Researchers have identified several possible tumor suppressor genes in the deleted region of chromosome 1, and more research is needed to understand what role these genes play in neuroblastoma development. (medlineplus.gov)
  • It encodes for a transmembrane protein that is 338 amino acids long, and is located on human chromosome 9. (wikipedia.org)
  • There are 13 transcript variants that are protein encoding, and the longest transcript variant is 790 amino acids long. (wikipedia.org)
  • All 13 variants are protein encoding, and all contain 19 exons. (wikipedia.org)
  • One human paralog was found when this protein was sequenced in BLAST. (wikipedia.org)
  • Only 1.5% of nucleic acids in human genome are used for protein encoding, but other 98.5% of the genome does not encode proteins. (jcancer.org)
  • It is located on chromosome 9p21 and its three exons encode a 156 amino acid, 15.8 kDa protein. (bmj.com)
  • Mouse over the nucleotide or protein sequence below and click on the highlighted codon or residue to select the pair. (nih.gov)
  • With hints from EST and protein databases, our new approach was able to predict 89% of the exons in human chromosome 22 correctly. (biomedcentral.com)
  • Less pronounced severity of immunodeficiency can be due to a novel 2 bp-deletion (c.3222_3223delTG) in the final exon of AP3B1 , causing a frameshift and thus a prolonged altered HPS2 protein. (medscape.com)
  • Some eight years later it was discovered that triplets of the base pairs specified each amino acid in the polypeptide chain of each protein [ 11 , 12 ]. (biomedcentral.com)
  • Main factors contributing towards the low detection of mouse exon-skipping events include the lack of mouse transcripts matching to mouse genomic sequences and the under-prediction of mouse exons. (uwc.ac.za)
  • The capture of mouse exon-skipping events may increase as the quality and quantity of mouse genomic and transcript sequences improves. (uwc.ac.za)
  • These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome. (inra.fr)
  • The recent draft assembly of the human genome provides a unified basis for describing genomic structure and function. (biomedcentral.com)
  • TMEM8B has 13 known mRNA splice variants in humans: Refer to the table below. (wikipedia.org)
  • PCR analysis of exon utilization reveals massive alternative mRNA splicing of Sec31B, with just 16 exons being constitutively utilized in all transcripts. (biologists.com)
  • Human being full FAK mRNA series can be a 3791 bases lengthy series (17). (cahrr.org)
  • The proposed role of HRPT2 as a tumor suppressor was supported by mutation screening in 48 parathyroid adenomas with cystic features, which identified three somatic inactivating mutations, all located in exon 1. (nih.gov)
  • In the presence of the mutation, the 903-base pair (bp) fragment is cleaved into 2 fragments of 664 and 239 bp. (jamanetwork.com)
  • Sugie HSugie YIto MFukuda TNonaka YIgarashi Y Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation. (jamanetwork.com)
  • When two genomes from the same primate species are compared with each other, structural variants constitute 2 to 7 times more base pair differences than single nucleotide variants 2 . (nature.com)
  • Dr Michael Mitchell, Division of Cardiothoracic Surgery, defects (ASD, n = 13), ventricular septal defects (VSD, NKX2-5 sequence variants were found in .95% of Department of Surgery, Medical n = 5), and atrioventricular canal defects (AVCD, n = 10). (cdc.gov)
  • Two synonymous germline in a majority of these patients.10 13 The same sequence variants were identified in two separate investigators also found somatic sequence variants patients. (cdc.gov)
  • Based on the TBX5, GATA4, and HEY2, often simultaneously incidence of somatic mutations described in the within the same patient.9-13 The observation of two previously published reports, our study was adequately or more somatic sequence variants in the same powered to replicate the previous studies. (cdc.gov)
  • The exception is the final exon which not only codes the terminal portion of the receptor, but also includes a 2,147 bp non-coding sequence that follows. (creation.com)
  • Details on tissue of origin for each intron and exon is available from the intron and exons table . (nih.gov)
  • H19 may play as an oncogene or suppressor depending on tumor types [ 13 ]. (jcancer.org)
  • We had been the 1st group to isolate human being FAK cDNA from the principal sarcoma cells and found improved FAKmRNA in tumor examples compared with regular tissue examples (2). (cahrr.org)
  • Our results identify MAGOH and MAGOHB as reciprocal paralog dependencies across cancer types and suggest a rationale for targeting the MAGOHB-IPO13 axis in cancers with chromosome 1p deletion. (nih.gov)
  • 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. (medlineplus.gov)
  • Genetic polymorphism in the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q is associated with high fetal hemoglobin levels. (scirp.org)
  • Morgan, Sturtevant, Bridges and Muller constructed the first genetic linkage maps from recombination studies in crosses made in the fruit fly and from cytological preparations of its polytene salivary gland chromosomes [ 4 - 6 ]. (biomedcentral.com)
  • The sequence of base pairs in DNA/RNA is thus the universal genetic code in all forms of life that descended from a common progenitor 4.5 billion years ago. (biomedcentral.com)
  • Since the genetic code was deciphered much has been learnt about the chromosome structure shared by all organisms from yeast to human. (biomedcentral.com)
  • A 1q21.1 microduplication is a copied (duplicated) segment of genetic material at position q21.1 on one of the two copies of chromosome 1 in each cell. (medlineplus.gov)
  • LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. (inra.fr)
  • One locus important in embryogenesis, KIT , has been associated with white coat patterns in several mammalian species and piebaldism in humans. (creation.com)
  • Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. (inra.fr)
  • These had all been previously screened for the presence of p53 mutations in exons 2 and 4-11 by single strand conformational polymorphism (SSCP) analysis and DNA sequencing as previously described. (bmj.com)
  • We therefore studied the association of two polymorphisms - R353Q polymorphism at codon 353 involving the catalytic region and the 10 base pair (bp) insertion polymorphism involving the promoter region - with FVIIc levels in 176 healthy Tunisians. (who.int)
  • The review provides a brief account of the structure of somatic and meiotic chromosomes, stressing the high conservation of structure in plants and animals, with emphasis on aspects that require further research. (biomedcentral.com)
  • The primary promoter consists of 600 foundation pairs and contains many transcription binding sites, such as for example AP-1, AP-2, SP-1, PU.1, GCF, TCF-1, EGR-1, NF-kappa B and p53(13). (cahrr.org)
  • We now recognize that, following DNA replication, the metaphase chromosome consists of two chromatids held together by a centromere and by cohesin. (biomedcentral.com)
  • The purpose of this study is to fine-map and further define the chromosome 16q13 BBS locus (BBS2). (bgu.ac.il)
  • The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
  • These studies reaffirmed that chromosome structure and behavior in somatic and germ cell divisions were common to all plants and animals. (biomedcentral.com)
  • We had been the 1st group to clone and characterize the human being FAK promoter, regulating FAK manifestation (13). (cahrr.org)
  • Oddly enough, we discovered two transcription binding sites for p53 in the FAK promoter, and discovered that p53 can stop FAK promoter activity (13). (cahrr.org)
  • Lately, mouse promoter continues to be cloned which is homologous towards the human being promoter extremely, and included the same binding sites (18). (cahrr.org)
  • mutant HIM-8 fails to suppress mutant egl-13 on a free transgenic array, and also fails to suppress native mutant egl-13 if transgenic excess copies of the egl-13 promoter are present. (nih.gov)
  • Here we report the finished sequence and biological annotation of human chromosome 1. (inra.fr)
  • The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. (inra.fr)
  • The mutations reported so far are located within exons 9 to 13, a region coding for the microtubule-binding sites. (unige.ch)
  • It represents 99.4% of the euchromatic DNA and includes one megabase of heterochromatic sequence within the pericentromeric region of the short and long arm of the chromosome. (inra.fr)
  • Most commonly, affected individuals are missing about 1.35 million DNA building blocks (base pairs), also written as 1.35 megabases (Mb), in the q21.1 region. (medlineplus.gov)
  • In other cases, individuals have a shorter or longer duplicated segment within the q21.1 region of chromosome 1. (medlineplus.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 1. (medlineplus.gov)
  • 1q21.1 microdeletion is a chromosomal change in which a small piece of the long (q) arm of chromosome 1 is deleted in each cell. (medlineplus.gov)
  • During synapsis A) sister chromatids pair at the centromeres B) homologues pair all along their length C) homologues repel each other except at the ends D) sister chromatids pair all along their length 1) only C is valid 2) only B is valid 3) none (A-D) is valid 4) only A is valid 5) only D is valid 12. (studyres.com)
  • Long non-coding RNAs (lncRNAs) are non-coding RNAs longer than 200 nucleotides that function as regulatory factors in many human diseases, including cancer. (jcancer.org)
  • The sequence of the human nuclear genome has been completed in draft form by an international public consortium consisting of 16 sequencing centers and associated computational facilities [ 1 ]. (biomedcentral.com)
  • First, MUC7 carries subexonic repeats that are 69 bp (23 amino acids) long and are copy number variable in humans 5 . (nature.com)
  • Here, we surveyed genome-scale short hairpin RNA and CRISPR screening data on hundreds of cancer cell lines and identified MAGOH and MAGOHB, core members of the splicing-dependent exon junction complex, as top-ranked paralog dependencies 6-8 . (nih.gov)
  • 13 p16 INK4a is a cyclin dependent kinase inhibitor that is frequently mutated or deleted in many human cancer cell lines 14-16 and some sporadic malignancies, including sarcomas, breast cancer, leukaemia, and brain tumours, which are all component tumours of LFS. (bmj.com)
  • Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. (inra.fr)
  • Given important differences in antigenic profile and human immune responses to schistosomes of different sex, we pioneered a single-sex female-only CHI-S model for future use in vaccine development. (bvsalud.org)
  • Targeting APOE may be a potential approach for diagnosis, risk assessment, prevention, and treatment of various neurodegenerative and cardiovascular diseases in humans. (dovepress.com)
  • 3 In this review, we discuss the biological functions of human APOE and its role in Alzheimer's disease (AD), Parkinson's disease (PD), cardiovascular diseases (CVD), multiple sclerosis (MS), type 2 diabetes mellitus (T2DM), vascular dementia (VD), and ischemic (occlusive) stroke (IS). (dovepress.com)
  • A frequent claim about human population structure is that most common variation is shared among all populations11-13. (blogspot.com)
  • The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. (inra.fr)
  • Improvements in the resolution of chromosome analysis has followed closely the introduction of innovative technology. (biomedcentral.com)
  • Shanske SSakoda SHermodson MADiMauro SSchon EA Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase. (jamanetwork.com)
  • We investigated the roles of storage and parsing in the visual domain for the productive Dutch plural suffix -en.Two experiments are reported that show that storage occurs for high-frequency noun plurals. (mpi.nl)
  • Despite two rounds of PZQ treatment, 4/13 participants showed signs of persistent infection. (bvsalud.org)
  • All mouse, skipped exons were observed to have ubiquitous tissue expression. (uwc.ac.za)
  • FINDINGS: The majority (11/13) participants reported rash and/or itch at the site of exposure, 5/13 had transient symptoms of acute schistosomiasis. (bvsalud.org)
  • The Genographic Project is a multimillion dollar effort to collect blood samples from a worldwide panel of indigenous populations and gain a better understanding of the patterns of human migration by following particular Y chromosome and mitochondrial markers. (nature.com)
  • Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • HIF-1α isoforms containing a three base pairs TAG insertion between exon 1 and exon 2 (designated HIF-1α TAG ) and HIF-1α 736 mRNAs were found expressed at higher levels in oestrogen receptor (OR)-negative carcinomas compared to normal/benign tissues ( P = 0.009 and P = 0.004 respectively). (biomedcentral.com)
  • Each is coded by one or two exons with the boundaries of the exons defining the boundaries of these domains. (creation.com)
  • This, of course, depends on how population boundaries are defined, but often cited to support such comments are the comparisons of SNP frequencies in pairs of populations in the HapMap data and the Perlegen data. (blogspot.com)
  • The mechanisms of transmission of both discontinuous and continuous characteristics across the generations were unknown before Mendel's laws were explained at the turn of the 20th Century by the behavior of chromosomes in germ cells [ 2 , 3 ]. (biomedcentral.com)
  • Some consider the DNase 1 in other tissues to be distinct related enzymes that belong to the DNase 1 family with similar characteristics outlined below (13, 33). (pancreapedia.org)