Chromosomes, Human, Pair 1

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  Subject Areas on Research

  • 1p36 is a preferential target of chromosome 1 deletions in astrocytic tumours and homozygously deleted in a subset of glioblastomas. 
  • A 6-Mb high-resolution physical and transcription map encompassing the hereditary prostate cancer 1 (HPC1) region. 
  • A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation. 
  • A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. 
  • ARHI is the center of allelic deletion on chromosome 1p31 in ovarian and breast cancers. 
  • Additional glomangioma families link to chromosome 1p: no evidence for genetic heterogeneity. 
  • African-American heredity prostate cancer study: a model for genetic research. 
  • Age at onset in two common neurodegenerative diseases is genetically controlled. 
  • Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. 
  • Allele loss on chromosome 1p36 in epithelial ovarian cancers. 
  • Analysis of genetic alterations in uterine leiomyomas and leiomyosarcomas by comparative genomic hybridization. 
  • Array CGH profiling of favourable histology Wilms tumours reveals novel gains and losses associated with relapse. 
  • Assignment of human transforming growth factor-beta type I and type III receptor genes (TGFBR1 and TGFBR3) to 9q33-q34 and 1p32-p33, respectively. 
  • Assignment of the human glycogen debrancher gene to chromosome 1p21. 
  • Assignment of the zeta-crystallin gene (CRYZ) to human chromosome 1p22-p31 and identification of restriction fragment length polymorphisms. 
  • Association of genomic subtypes of lower-grade gliomas with shape features automatically extracted by a deep learning algorithm. 
  • Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore. 
  • CREBBP and STAT6 co-mutation and 16p13 and 1p36 loss define the t(14;18)-negative diffuse variant of follicular lymphoma. 
  • Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21. 
  • Chromosomal localization of gene for human glutamate receptor subunit-7. 
  • Chromosomal translocation in a human leukemic stem-cell line disrupts the T-cell antigen receptor delta-chain diversity region and results in a previously unreported fusion transcript. 
  • Chromosomes with high gene density are preferentially repaired in human cells. 
  • Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization. 
  • Co-amplification of a novel cyclophilin-like gene (PPIE) with L-myc in small cell lung cancer cell lines. 
  • Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23. 
  • Complement factor H variant increases the risk of age-related macular degeneration. 
  • Completeness of required site-specific factors for brain and CNS tumors in the Surveillance, Epidemiology and End Results (SEER) 18 database (2004-2012, varying). 
  • Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci. 
  • Comprehensive analysis of chromosome 1p deletions in neuroblastoma. 
  • Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. 
  • Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22. 
  • Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter. 
  • Correlation of 1p-19q-defects in human gliomas with the light microscopic appearance of oligodendroglioma. 
  • Cross-species DNA copy number analyses identifies multiple 1q21-q23 subtype-specific driver genes for breast cancer. 
  • DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. 
  • Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma. 
  • Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. 
  • Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH. 
  • Detailed molecular analysis of 1p36 in neuroblastoma. 
  • Distal nephron renal tumors: microsatellite allelotype. 
  • Distinct patterns of 1p and 19q alterations identify subtypes of human gliomas that have different prognoses. 
  • Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. 
  • Examination of seven candidate regions for multiple sclerosis: strong evidence of linkage to chromosome 1q44. 
  • Exclusion of lumican and fibromodulin as candidate genes in MYP3 linked high grade myopia. 
  • Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. 
  • Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes. 
  • Genetic analysis of a family with hereditary glomuvenous malformations. 
  • Genetic and functional association of FAM5C with myocardial infarction. 
  • Genetic and phenotypic characteristics of pleomorphic lobular carcinoma in situ of the breast. 
  • Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. 
  • Genetic variation in PEAR1 is associated with platelet aggregation and cardiovascular outcomes. 
  • Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. 
  • Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. 
  • Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. 
  • Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). 
  • Genome-wide linkage scan for prostate cancer aggressiveness loci using families from the University of Michigan Prostate Cancer Genetics Project. 
  • Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. 
  • Hereditary prostate cancer in African American families: linkage analysis using markers that map to five candidate susceptibility loci. 
  • Hereditary prostate cancer in African-American families. 
  • High-density mapping of chromosomal arm 1q in renal collecting duct carcinoma: region of minimal deletion at 1q32.1-32.2. 
  • High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. 
  • Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease. 
  • Identification of susceptibility loci contributing to a complex disease using conventional segregation, linkage, and association methods. 
  • Identification, chromosomal mapping and tissue-specific expression of hREV3 encoding a putative human DNA polymerase zeta. 
  • Imaging correlates for the 2016 update on WHO classification of grade II/III gliomas: implications for IDH, 1p/19q and ATRX status. 
  • Increased chromosomal instability in peripheral lymphocytes and risk of human gliomas. 
  • Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study. 
  • Involvement of the TCL5 gene on human chromosome 1 in T-cell leukemia and melanoma. 
  • Isolation and chromosomal localization of cDNAs encoding a novel human lymphocyte cell surface molecule, LAM-1. Homology with the mouse lymphocyte homing receptor and other human adhesion proteins. 
  • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 
  • Linkage and association with type 1 diabetes on chromosome 1q42. 
  • Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1. 
  • Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. 
  • Longitudinal molecular trajectories of diffuse glioma in adults. 
  • Mapping and characterization of the amplicon near APOA2 in 1q23 in human sarcomas by FISH and array CGH. 
  • Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41. 
  • Molecular genetic aspects of oligodendrogliomas including analysis by comparative genomic hybridization. 
  • Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq). 
  • Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 
  • Mutations in CIC and FUBP1 contribute to human oligodendroglioma. 
  • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 
  • PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients. 
  • Pelger-Huët anomaly in a child with 1q42.3-44 deletion. 
  • Physical and genetic linkage of the genes encoding Ly-9 and CD48 on mouse and human chromosomes 1. 
  • Premature myocardial infarction novel susceptibility locus on chromosome 1P34-36 identified by genomewide linkage analysis. 
  • Prenatal diagnosis of complete sole trisomy 1q. 
  • Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma. 
  • Prostate cancer susceptibility locus on chromosome 1q: a confirmatory study. 
  • Radiation and chemotherapy for high-risk lower grade gliomas: Choosing between temozolomide and PCV. 
  • Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000. 
  • Report and abstracts of the third international workshop on human chromosome 1 mapping 1997. 
  • Report of the fifth international workshop on human chromosome 1 mapping 1999. 
  • SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach. 
  • Stathmin-deficient mice develop an age-dependent axonopathy of the central and peripheral nervous systems. 
  • The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations. 
  • The DNA sequence and biological annotation of human chromosome 1. 
  • The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. 
  • The distinction between juvenile and adult-onset primary open-angle glaucoma. 
  • The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3. 
  • The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. 
  • Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? 
  • Uveal melanocytomas: genetic comparison with uveal and dermal melanomas. 
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  Keywords of People

  • Bennett, Vann, George Barth Geller Distinguished Professor of Molecular Biology, Duke Cancer Institute
  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Muir, Kelly Walton, Associate Professor of Ophthalmology, Ophthalmology, Glaucoma