Chromosome Mapping * Chromosomes, Human, Pair 9 * DNA Helicases * Fungal Proteins / genetics* * Humans ... the human ortholog of yeast Sen1p, involved in RNA maturation and termination. ...
Chromosomes, Human, Pair 9 / genetics* * Cohort Studies * Cross-Sectional Studies * DNA Repeat Expansion / genetics* ... Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium; Dena G Hernandez, Sampath ...
Chromosomes, Human, Pair 9 / genetics * DNA Repeat Expansion / genetics* * DNA-Binding Proteins / genetics ... Some of these families have linkage to chromosome 9, with hexanucleotide expansion mutation in a noncoding region of C9ORF72. ...
Chromosomes, Human, Pair 1* * Exons / genetics * Female * Gene Deletion * HEK293 Cells * Humans ... Genome-scale analysis identifies paralog lethality as a vulnerability of chromosome 1p loss in cancer Nat Genet. 2018 Jul;50(7 ... 9 10 11 , Francisca Vazquez 2 , Aviad Tsherniak 2 , William C Hahn 1 2 3 , Matthew Meyerson 12 13 14 ... a pervasive genetic event that frequently occurs due to chromosome 1p loss. Inhibition of MAGOHB in a MAGOH-deleted context ...
Chromosome Mapping * Chromosomes, Human, Pair 4 / genetics * Family Health * Female * Genetic Linkage ... Methods: One hundred five white British families with 121 affected sibling pairs with AS were recruited, largely from the Royal ... Nine of 118 affected sibling pairs (7.6%) did not share parental haplotypes identical by descent across the MHC, suggesting ... A further marker used in mapping of the MHC class III region achieved a LOD score of 8.1 (P = 1 x 10(-9)). ...
We report on a 30-year-old women with de novo ring chromosome 12 mosaicism, 46,XX, r(12)(p13.3q24.3)/46,XX. In addition to the ... Chromosomes, Human, Pair 12* * Dinucleotide Repeats * Face / abnormalities * Female * Genetic Markers * Growth Disorders / ... Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review Am J Med Genet. 1996 May 17; ... We report on a 30-year-old women with de novo ring chromosome 12 mosaicism, 46,XX, r(12)(p13.3q24.3)/46,XX. In addition to the ...
Here we show that an affinity proteomics strategy using affinity-purified antibodies raised against recombinant human protein ... fragments can be used for chromosome-wide protein profiling. The approach is based on affinity reagents raised toward ... Chromosomes, Human, Pair 21 / metabolism* * Computational Biology * Expressed Sequence Tags * Humans * Organ Specificity ... The genes of human chromosome 21 identified by the genome efforts were investigated, and the success rates for de novo cloning ...
Chromosomes, Human, Pair 22 * Crystallography, X-Ray * Cytoplasm / metabolism * Genotype * Hearing Loss, Sensorineural / ... 7) disease loci to an overlapping region of 480 kb on chromosome 22 suggested that all three disorders are allelic. Among the ... identified candidate genes is the gene encoding nonmuscle myosin heavy chain 9 (MYH9; refs 8-10), which is expressed in ...
Chromosome Aberrations * Chromosome Deletion * Chromosome Disorders * Chromosomes, Human, Pair 15 * Environmental Exposure ... In the PWS group deletions were detected on chromosome 15q11-q13 and parents were older. The parents occupational and ... 1995 Dec;37(12):1101-9. doi: 10.1111/j.1469-8749.1995.tb11971.x. ...
Prior studies in ACC have identified deletions in chromosome 12. To further characterize these changes, we performed an ... Chromosome Mapping* * Chromosomes, Human, Pair 12* * Female * Gene Expression Profiling * Genes, Tumor Suppressor* ... Mapping of candidate tumor suppressor genes on chromosome 12 in adenoid cystic carcinoma Lab Invest. 2005 Sep;85(9):1076-85. ... Prior studies in ACC have identified deletions in chromosome 12. To further characterize these changes, we performed an ...
AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of ... wbg12.4p57] Pairing of Homologous Chromosomes Inhibits Intrachromosomal Recombination *[cgc1810] Trans-generational effects of ... 4L319, 9 accessions, 4 variants 4L306, 15 accessions, 2 variants ZOOM OUT D:disease, C:conserved, I:interactions, R:regulation, ... 4L319, 9 accessions, 4 variants 4L363, 5 accessions, 2 variants 4L286, 1 accession 4L396, 0 accession 4L236, 9 accessions egl- ...
Duplications of chromosome region 15q11q13 often occur as a supernumerary chromosome 15. Less frequently they occur as ... Chromosomes, Human, Pair 15 / genetics* * Cytogenetics * Female * Gene Deletion * Genomic Imprinting * Humans ... Duplications of chromosome region 15q11q13 often occur as a supernumerary chromosome 15. Less frequently they occur as ... Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization Am J Med Genet. 1998 Sep 1;79( ...
Not only do they possess genes controlling sex determination that are restricted to either the X or Y (or Z or W) chromosomes, ... Sex chromosomes differ from other chromosomes in the striking divergence they often show in size, structure, and gene content. ... In these pseudoautosomal regions (PARs), sequence homology is maintained by meiotic pairing and exchange in the heterogametic ... Sex chromosomes differ from other chromosomes in the striking divergence they often show in size, structure, and gene content. ...
Chromosome Disorders / diagnosis* * Chromosomes, Human, Pair 13 * Chromosomes, Human, Pair 18 * DNA / blood* ... Data sources: PubMed, Ovid Medline, Ovid Embase and the Cochrane Library published from 1997 to 9 February 2015, followed by ... Sensitivity was lower in twin than singleton pregnancies, reduced by 9% for Down, 28% for Edwards and 22% for Patau syndrome. ...
We report a on 6-year-old girl with a de novo 0.63 Mb deletion on chromosome 6q25.1 who demonstrated multiple congenital ... Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the ... Chromosome Deletion * Chromosomes, Human, Pair 6 / genetics* * Developmental Disabilities / genetics* * Elasticity / physiology ... We report a on 6-year-old girl with a de novo 0.63 Mb deletion on chromosome 6q25.1 who demonstrated multiple congenital ...
We looked for four genetic alterations (ras-gene mutations and allelic deletions of chromosomes 5, 17, and 18 … ... Chromosomes, Human, Pair 17 * Chromosomes, Human, Pair 18 * Chromosomes, Human, Pair 5 ... Sequences on chromosome 5 that are linked to the gene for familial adenomatous polyposis were not lost in adenomas from the ... A specific region of chromosome 18 was deleted frequently in carcinomas (73 percent) and in advanced adenomas (47 percent) but ...
Chromosome Deletion * Chromosome Mapping * Chromosomes, Human, Pair 22 * Exome Sequencing * Female * Genetic Association ... 2018 Sep;176(9):1968-1971. doi: 10.1002/ajmg.a.40362. Epub 2018 Aug 16. ...
A major challenge for human genetics is to identify new causes of mental retardation, which, although present in about 3% of ... Chromosome Aberrations / diagnosis * Chromosome Aberrations / epidemiology * Chromosome Disorders * Chromosomes, Human, Pair 13 ... A major challenge for human genetics is to identify new causes of mental retardation, which, although present in about 3% of ... 1995 Feb;9(2):132-40. doi: 10.1038/ng0295-132. Authors J Flint 1 , A O Wilkie, V J Buckle, R M Winter, A J Holland, H E ...
Chromosomes, Human, Pair 17 / genetics* * Diabetes Mellitus / genetics* * Genotype * Heterozygote * Humans * Male ... a newly discovered prostate cancer susceptibility locus on chromosome 17q12 (single nucleotide polymorphism rs4430796) and ... 2009 Nov;104(9):1200-3. doi: 10.1111/j.1464-410X.2009.08656.x. Epub 2009 Jul 20. ...
... the Cooperative Human Linkage Center, the Utah Marker Development Group, and the Mars … ... Comprehensive human genetic maps were constructed on the basis of nearly 1 million genotypes from eight CEPH families; they ... Chromosomes, Human, Pair 1 * Chromosomes, Human, Pair 14 * Chromosomes, Human, Pair 19 ... Comprehensive human genetic maps: individual and sex-specific variation in recombination Am J Hum Genet. 1998 Sep;63(3):861-9. ...
Chromosomes, Human, Pair 19 * Conserved Sequence * Female * Ferritins / blood * Genetic Linkage * Guanine ... on chromosome 19q13.3. Hematological tests in two affected individuals showed very high levels of serum ferritin without iron ... 2006 Feb 21;12:93-9. Authors Vanita Vanita 1 , James Fielding Hejtmancik, Hans Christian Hennies, Kamlesh Guleria, Peter ...
... and many noncoding regulatory DNA elements are thought to regulate the spatial organization of interphase chromosomes. For ... However, vast portions of the human genome are subject to transcriptional and epigenetic regulation, ... Chromosome Positioning* * Chromosomes, Human, Pair 6 / genetics * Chromosomes, Human, Pair 6 / metabolism ... Keywords: Chromatin fiber; chromosomal looping; chromosome conformation capture; genome in 3D; higher-order chromatin; human ...
Chromosome Deletion * Chromosome Disorders / immunology* * Chromosomes, Human, Pair 18 / immunology * Cohort Studies ... Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and ... was performed in all patients to identify size and location of chromosome 18 deletion. Clinical evaluation and medical record ... 9 , Beata S Lipska-Ziętkiewicz 10 , Ewa Kaczorowska 11 , Agata Cieślikowska 12 , Anna Kutkowska-Kaźmierczak 13 , Jolanta Fijak- ...
Chromosomes, Human, Pair 17 * DNA Repair Enzymes / genetics * DNA-Binding Proteins / genetics ... 9 , Li Juel Mortensen 4 , Lavinia Paternoster 10 , Richard Flaaten 4 , Anne Mølgaard 4 , David E Smart 11 , Philip F Thomsen 12 ... 9 1] Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK. [2] Pediatric Pulmonology ...
enables mRNA base-pairing translational repressor activity IDA Inferred from Direct Assay. more info ... RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also ... Microcrystalline silica particles induce inflammatory response via pyroptosis in primary human respiratory epithelial cells. ... MIR455 microRNA 455 [ Homo sapiens (human) ] Gene ID: 619556, updated on 10-Oct-2023 ...
enables mRNA base-pairing translational repressor activity IDA Inferred from Direct Assay. more info ... RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also ... MIR18B microRNA 18b [ Homo sapiens (human) ] Gene ID: 574033, updated on 10-Oct-2023 ... which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational ...
Complete uniparental heterodisomy (i.e., both chromosomes of a chromosome pair or chromosome segment are inherited from one ... Most of the more than 3.2 billion base pairs that comprise the human genome are repetitive DNA or noncoding sequences - ... Note that chromosome rearrangements may be identified by using paired-end and mate-pair mapping to identify misalignment of ... A region of homozygosity limited to one chromosome pair or chromosome segment can be detected by SNP array in individuals with ...
A Historical-Genetic Reconstruction of Human Extra-Pair Paternity. Larmuseau MHD, van den Berg P, Claerhout S, Calafell F, ... A Y-chromosome perspective from the Arbereshe of Calabria. Boattini A, Luiselli D, Sazzini M, Useli A, Tagarelli G, Pettener D. ... The Genetic Variability of APOE in Different Human Populations and Its Implications for Longevity. Abondio P, Sazzini M, ... The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). ...
This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role ... The results have identified a homozygous 28 base-pair insertion mutation in exon 2 of the HOXC13 gene in both sisters in an ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and ... Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to ...