• In this study, 39 pure oligodendrogliomas were investigated for loss of heterozygosity (LOH) on 10q, PTEN mutations, and DMBT1 homozygous deletions. (nih.gov)
  • Advances in genome-wide molecular cytogenetics allow identification of novel submicroscopic DNA copy number alterations (aCNAs) and copy-neutral loss of heterozygosity (cnLOH) resulting in homozygosity for known gene mutations in myeloid neoplasms. (biomedcentral.com)
  • Loss of heterozygosity affecting these two chromosomes and mutations in TET2 and EZH2 are indicative of a myelodysplastic syndrome with a poor prognosis. (biomedcentral.com)
  • DIRA is caused by autosomal recessive loss of function mutations in IL1RN . (biomedcentral.com)
  • Seven DIRA causing mutations have been described, including one 175Kb genomic deletion, 4 premature stopcodons, 1 inframe deletion, and 1 missense mutation. (biomedcentral.com)
  • Recurrent UPD11q led to identification of homozygous mutations in o-Cbl, an E3 ubiquitin ligase involved in attenuation of proliferative signals transduced by activated receptor tyrosine kinases. (ewha.ac.kr)
  • We found little evidence that selection for loss-of-function mutations had a prominent role in chicken domestication, but we detected two deletions in coding sequences that we suggest are functionally important. (nature.com)
  • A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin C mutations. (nih.gov)
  • The BLM mutations can be found in compound heterozygous forms, homozygous forms, or as single gene mutation forms. (medscape.com)
  • Previous studies have shown that loss of heterozygosity, homozygous deletions, and abnormal expression of the FHIT gene are involved in several types of human malignancies. (nih.gov)
  • promoter region of the FHIT gene, and methylation in this region correlates with loss of FHIT expression. (nih.gov)
  • 50%, one of which had a homozygous pathogenic alteration in an HR gene (deletion in BRCA2). (bvsalud.org)
  • To report a novel disease-causing deletion affecting IL1RN gene in an Indian patient with DIRA. (biomedcentral.com)
  • The prime explanation for this failure is probably that researchers have, in general, been too credulous about the two-hit hypothesis, and too willing to ignore factors such as intratumor heterogeneity, contamination by normal cells, karyotypic complexity, homozygous deletions, gene dosage changes, and polymerase chain reaction artifacts. (ox.ac.uk)
  • BRCA2 was the most commonly recognized gene aberration which occurred in seven individuals, of whom two experienced homozygous deletions, two with combined somatic and LOH (loss of heterozygosity), while 3 of the 7 experienced germline mutation with loss of the 2nd allele. (angiogenesis-blog.com)
  • Loss of chromosome 13q, which includes the retinoblastoma (RB) gene focus, occurs in approximately 30% of higher-grade astrocytic tumours. (sagepub.com)
  • To further investigate the mutational profile of this gene in human cancers, we examined a large set of human tumor specimens and cancer cell lines of many types for 10q23 allelic losses and MMAC1 sequence alterations. (elsevierpure.com)
  • The lignified cell walls of the homozygous deficient tissue exhibit the features characteristic of the known recessive gene bm 1 although the locus of this gene is absent. (nih.gov)
  • Coelho A, Picanço I, Seuanes F, Seixas MT, Faustino P: Novel large deletions in the human α-globin gene cluster: clarifying the HS-40 long-range regulatory role in the native chromosome environment. (karger.com)
  • A polymorphism within intron 18 of the canine PDE6A gene was invariably present in the homozygous state in PRA-affected Cardigan Welsh corgis. (arvojournals.org)
  • A single base deletion at codon 616 in the PDE6A gene cosegregated with PRA status with zero discordance in Cardigan Welsh corgis with PRA. (arvojournals.org)
  • These mice, bearing one copy of the wild-type ER gene and one copy of the inactivated ER gene, were screened by Southern and polymerase chain reaction analyses to ensure heterozygosity. (nih.gov)
  • We report the genomic profile of diffuse-type gastric cancers including new somatic variations, a novel fusion gene, and amplification and deletion of certain chromosomal regions that contain oncogenes and tumor suppressors. (biomedcentral.com)
  • The DMBT1 homozygous deletions were found in 10 (26%) of 39 oligodendrogliomas but only one PTEN mutation was detected. (nih.gov)
  • Most animals with loss-of-function let-7 mutation burst through their vulvas and die, and therefore the mutant is lethal (let). (wikipedia.org)
  • Mutation involves any change in the hereditary material: from a point mutation to a chromosomal loss. (dorak.info)
  • For purposes of the trial, individuals who harbor a homozygous deletion or deleterious mutation to DNA restoration genes or PARP inhibition level of sensitivity were regarded as biomarker-positive. (angiogenesis-blog.com)
  • We next assessed the prognostic significance of CDKN2A, RB1 or TP53 mutation/copy loss in an independent cohort of 71 patients with primary GIST. (biomedcentral.com)
  • Genetic events (mutation, deletion, and/or LOH) involving at least one of the three genes examined were found in 17% of the very low-risk, 36% of the low-risk, 42% of the intermediate risk, 67% of the high-risk/low mitotic-count, and in 86% of the high-risk/high mitotic-count group. (biomedcentral.com)
  • Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei. (cdc.gov)
  • The most common mutation is the deletion of 6 nucleotides at position 2281 and their replacement with 7 others, which occurs most commonly in Ashkenazi Jews. (medscape.com)
  • PTEN is a target of chromosome 10q loss in anaplastic oligodendrogliomas and PTEN alterations are associated with poor prognosis. (nih.gov)
  • A further three samples harboured homozygous HRD alterations (all deletions in BRCA2), detected by WES or panel sequencing, with 5/58 (9%) individuals having HRD uLMS. (bvsalud.org)
  • In summary, cytogenetic alterations in pediatric oligodendrogliomas are characterized mostly by genomic losses, particularly in anaplastic tumors. (johnshopkins.edu)
  • Chromosomal deletions of 10q and candidate genes such as PTEN and DMBT1 have been thoroughly investigated in glioblastomas but few data specifically address oligodendrogliomas. (nih.gov)
  • Chromosomal evaluation Affymetrix CytoScan HD arrays had been utilized to assess copy amount Inhibitors,Modulators,Libraries and loss of heterozygosity in sam ples of IBC and non IBC breast cancer cell lines. (kspinhibitors.com)
  • all 11 showed significant loss of chromosome 9q, and seven showed significant gain of chromosome 4q. (nih.gov)
  • We report the high frequency loss of heterozygosity (LOH) of genetic loci distinct from and mapping proximal to VHL within human chromosome 3p in the VHL kindred under study. (nih.gov)
  • Oligo-SNP array analysis revealed a hemizygous deletion of 896 kb at chromosome 5q31.2, representing the smallest 5q deletion reported to date. (biomedcentral.com)
  • Results A 9q Region of Frequent Allelic Loss Characterizes Both DPCs and PanINs A panel of 40 TSU-68 paired normal-tumor DNA samples from DPCs and 6 PanINs were assayed for LOH using 9 polymorphic microsatellites mapped to chromosome 9q. (scienceexhibitions.org)
  • Two-thirds of malignant astrocytomas and glioblastomas have homozygous deletions of the region of chromosome 9p that includes the cyclin-dependent kinase inhibitor 2A (CDKN2A) and CDKN2B genes. (sagepub.com)
  • 00 eee ete rere tess 375 I. INTRODUCTION 'T IS the purpose of this paper to describe the method by which viable tissues, homozygous deficient for a known region of a chromosome, may be produced in maize. (nih.gov)
  • This heterozygosity in the resulting individual would be main- tained as long as an unaltered ring chromosome was present. (nih.gov)
  • Should the ring chromosome be lost in subsequent nuclear divisions, or should it change in size through loss of a segment within it, the tissues arising after such loss or alteration would be homozygous deficient for the entire de- ficiency in the first case or for regions within the limits of the deficiency in the second case. (nih.gov)
  • We performed a SNP array on chromosome 6 in CD34 + purified blasts from 19 patients diagnosed with advanced MDS and 8 patients with other myeloid malignancies to evaluate the presence of loss of heterozygosity (LOH) in HLA and its impact on disease progression. (oncotarget.com)
  • 19. Loss of heterozygosity and homozygous deletion of the tpr locus in human gastric cancer . (nih.gov)
  • Loss of heterozygosity (LOH) at the MMAC1 locus was observed in approximately one-half of the samples examined, consistent with the high frequency of 10q allelic loss reported for many cancers. (elsevierpure.com)
  • 346 \'L Simulation of the 6 / phenotype through loss of the Bm J locus. (nih.gov)
  • Differential methylation of imprinting genes and MHC locus in 22q11.2 deletion syndrome-related schizophrenia spectrum disorders. (cdc.gov)
  • The deletion involved multiple genes, including two tumor suppressor candidate genes ( CTNNA1 and HSPA9 ) that are associated with MDS/AML. (biomedcentral.com)
  • Deletion of the tumor suppressor genes CTNNA1 and HSPA9 is also likely to contribute to a poor prognosis. (biomedcentral.com)
  • The Knudson "two-hit" hypothesis has provided the rationale for studies that aim to identify tumor-suppressor genes by mapping regions of allelic loss (loss of heterozygosity, LOH). (ox.ac.uk)
  • RT-PCR from homozygous mutant fish confirmed the presence of transcripts with indels in all genes. (cancerindex.org)
  • One minimal LOH (loss of heterozygosity) region, between loci D11S1345-D11S1316, contains the cluster miR-125b1/let-7a-2/miR-100. (wikipedia.org)
  • We investigated a novel VHL kindred with a preponderance of PICTs to determine whether loss of additional genetic loci associated with the sporadic forms of RCC and PICTs might play a role in malignant conversion in this disease. (nih.gov)
  • or (instances with ETO retention TSU-68 of heterozygosity in every informative loci). (scienceexhibitions.org)
  • In summary, the clinical outcome of patients with advanced MDS might be influenced by HLA allelic loss, wich allows subclonal expansions to evade cytotoxic-T and NK cell attack. (oncotarget.com)
  • Copy-neutral LOH (cnLOH) arises either via a hemizygous deletion in one homolog and duplication of the other, or uniparental disomy (UPD). (biomedcentral.com)
  • 0 were retrieved and had been categorized as follows two homozygous deletion one hemizygous selleck deletion 0 neutralno alter one acquire 2 large level amplification. (kspinhibitors.com)
  • Samples are in heterozygosity for the specific microsatellite and the peaks represent each allele amplification product. (scienceexhibitions.org)
  • SNV/INDEL ratio, transition/transversion ratio, Heterozygous/Homozygous ratio and INDEL size distribution are considered (left). (biomedcentral.com)
  • A GSS is developed using a combination of Y-autosome translocation and a selectable marker such as pupal color, resulting in heterozygous males and homozygous females that possess wild-type brown pupae ( wp + ) and mutant white pupae ( wp ) alleles, respectively. (biomedcentral.com)
  • Whole arm 1p19q co-deletion was present in three cases from adolescent patients and 9p loss in 3, including one low-grade oligodendroglioma with CDKN2A homozygous deletion. (johnshopkins.edu)
  • LOD score = 5.18 at θ = 0), frameshift deletion c.2947_2948del (p.Asp983 ∗ ) in family F372 (two affected individuals), and frameshift variant c.2852_2855del (p.Thr951Metfs ∗ 41) in family F3 (one affected individual). (nih.gov)
  • ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance. (cdc.gov)
  • The primers designed to detect the novel deletion will be useful to screen Indian patients with a clinical suspicion of DIRA. (biomedcentral.com)
  • Viprakasit V, Harteveld CL, Ayyub H, Stanley JS, Giordano PC, Wood WG, Higgs DR: A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element. (karger.com)
  • Early clonal genetic events in benign hyperplastic lesions show losses at chromosomes 9p21 and 3p. (medscape.com)
  • The method of obtaining the homozygous deficient tissue is related to the unique behavior of ring-shaped chromosomes during somatic mitosis. (nih.gov)
  • However, concurrent SMARCB1 and TP53 deletions are rarely found in human AT/RTs. (biomedcentral.com)
  • Genetic analysis: SNP array analysis of patient's genomic DNA showed loss of heterozygosity for all SNPs in a region of approximately 21.4 to 23.7kb, indicating a homozygous deletion. (biomedcentral.com)
  • It is believed that NIHL is a complex disease resulting from the interaction between environmental and genetic factors and it is well recognized that people with similar exposures to noise show variation in the amount of hearing loss, indicative of a genetic component [ 4 ].Twin studies estimate heritability for noise-induced hearing loss (NIHL) of approximately 36% [ 5 ]. (prolekarniky.cz)
  • High frequency loss of heterozygosity in von Hippel-Lindau (VHL)-associated and sporadic pancreatic islet cell tumors: evidence for a stepwise mechanism for malignant conversion in VHL tumorigenesis. (nih.gov)
  • We therefore conclude that DNMBP loss-of-function variants cause infantile-onset cataracts in humans. (nih.gov)
  • We conclude that expression of the LAG ligands Galectin-3 and HLA class II strongly correlates with LAG3 expression and all are elevated in UM with Monosomy 3/ BAP1 loss. (aabioetica.org)
  • The mouse has been an essential animal model for studies in hearing loss, and advances in mouse genetics, including genome sequence and high density single-nucleotide polymorphism (SNP) maps, provide a suitable system for the study of a complex trait such as NIHL [ 6 ]. (prolekarniky.cz)
  • They may (1) increase in size through duplication and reduplication of segments of the original ring, (2) decrease in size by deletions of segments from the ring, (3) be totally lost from the nuclei or (4) be present in increased numbers in the different nuclei. (nih.gov)
  • Still, three others experienced FANCA (Fanconi's anemia) deletion in three individuals. (angiogenesis-blog.com)
  • Anguita E, Sharpe JA, Sloane-Stanley JA, Tufarelli C, Higgs DR, Wood WG: Deletion of the mouse alpha-globin regulatory element (HS-26) has an unexpectedly mild phenotype. (karger.com)
  • However, the females show a mutant phenotype because they are homozygous for the selectable marker. (biomedcentral.com)
  • The cluster miR-99a/let-7c/miR-125b-2 is in a 21p11.1 region of HD (homozygous deletions). (wikipedia.org)
  • The SOR region … A homozygous deletion at SOR was detected in 5 of 37 useful cases of DPC (13.5%) and in 2 TSU-68 of 6 PanINs. (scienceexhibitions.org)
  • Most changes were in the form of deletion and copy neutral loss of heterozygosity (LOH). (johnshopkins.edu)
  • SCNVSim generates the genomes of a cancer cell population with detailed information of copy number status, loss of heterozygosity (LOH), and event break points, which is essential for developing and evaluating somatic CNV and SV detection methods in cancer genomics studies. (biomedcentral.com)
  • Loss of heterozygosity analysis: practically and conceptually flawed? (ox.ac.uk)
  • conversion variants are described as a Deletion-Insertion (see DNA or RNA ). (hgvs.org)
  • We report more than 7,000,000 single nucleotide polymorphisms, almost 1,300 deletions and a number of putative selective sweeps. (nature.com)
  • In addition, in this set of tumor cell lines, we detected 11 (- 145) homozygous deletions that eliminated coding portions of MMAC1, a class of abnormality not detected by our methods in primary tumors. (elsevierpure.com)
  • Several human chemokine receptors have been sons than for those homozygous for the wild classified as such on the basis of similarity of type CCR5 (12,17-19,23). (cdc.gov)
  • The microsatellite D9S105 appeared to be the most sensitive marker in detecting this deletion (Physique 3A). (scienceexhibitions.org)
  • The most common abnormality was 1p deletion (n = 5). (johnshopkins.edu)
  • Common losses were largely limited to the anaplastic subset (n = 5) and included 3q29 (n = 3), 11p (n = 3), 17q (n = 3), 4q (n = 2), 6p (n = 2), 13q (n = 2), 14q (n = 2), 17p (n = 2) and whole Ch 18 loss (n = 2). (johnshopkins.edu)
  • Noise-induced hearing loss (NIHL) is the most common work-related disease in the world and the second cause of hearing loss. (prolekarniky.cz)
  • Noise-induced hearing loss (NIHL) is a worldwide leading occupational health risk in industrialized countries and is the second most common form of sensorineural hearing impairment, after presbyacusis [ 1 ]. (prolekarniky.cz)
  • According to the Department of Veterans Affairs, hearing loss is the most common disability among U.S. troops in the Middle East. (prolekarniky.cz)
  • deletion (20-22), no cases of HIV infection had while others are selective in terms of ligand been reported in studies of more than 60 persons binding. (cdc.gov)
  • In 24 cases (60%) there were interstitial allelic deletions thus defining the SOR at 9q31.1-31.3 flanked by microsatellites D9S127 and D9S105 (Determine 1C). (scienceexhibitions.org)
  • We sequenced c-Cbl, Cbl-b, and Cbl-c in patients with or without corresponding UPD or deletions and correlated mutational status with clinical features and outcomes. (ewha.ac.kr)
  • High frequency LOH was also observed in sporadic PICTs in regions of 3p associated with LOH in sporadic clear cell RCC as well as homozygous deletion in lung cancer. (nih.gov)
  • Defying our own skepticism, in 1990, we established a collaboration with Oliver Smithies' laboratory at the University of North Carolina in Chapel Hill and launched an attempt to produce a mouse homozygous for disrupted function of the estrogen receptor. (nih.gov)
  • Mouse strains (C57BL/6J) exhibiting age-related hearing loss (AHL) were shown to be more susceptible to noise than other strains [ 6 ]. (prolekarniky.cz)
  • PCR and sequencing of the breakpoint area allowed us to identify the breakpoints of the deletion, at chr2_hg19_113,865,011 and chr2_hg19_113,887,227, confirming a homozygous 22,216bp deletion that spans the first four exons of IL1RN (NM_173843). (biomedcentral.com)
  • Methods We applied high-density SNP-A karyotyping to identify loss of heterozygosity of 11q in 442 patients with MDS, MDS/MPN, MPN, sAML evolved from these conditions, and primary AML. (ewha.ac.kr)
  • The sequencing of DNA pools from individual lines is also effective for detecting selective sweeps, because heterozygosity can be calculated in sliding windows from sequences drawn from a pool of haplotypes. (nature.com)
  • This deletion has not been previously reported in patients with DIRA. (biomedcentral.com)