• The QSER1 gene is found on the short arm of chromosome 11 (11p13), beginning at 32,914,792 bp and ending at 33,001,816 bp. (wikipedia.org)
  • Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. (medlineplus.gov)
  • Aniridia is caused by mutations in the Paired Box gene 6 (PAX6), which is located on chromosome 11p13 and is necessary for the production of protein involved in the early development of the eyes, central nervous system, and pancreas. (uiowa.edu)
  • In the vast majority of cases, aniridia is caused by a mutation in the PAX6 gene located on the short arm of chromosome 11 (11p13). (visionfortomorrow.org)
  • PAX6 is located on chromosome 11p13. (cd-genomics.com)
  • The WT1 gene, predisposing to the Wilms' tumour, lies on chromosome 11p13. (your-doctor.net)
  • A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. (lookfordiagnosis.com)
  • Deletion of the PAX6 gene as part of the band 11p13 deletion in patients with AGR or WAGR syndrome results in aniridia. (medscape.com)
  • Interestingly, the 11p13-p12 region was reported to be a susceptibility locus for Japanese type 2 diabetes mellitus with suggestive evidence of linkage, and D11S905 was within 5 cM to D11S935 with the highest MLS in the previous linkage analysis reported. (elsevierpure.com)
  • Gene map locus is 11p13. (mhmedical.com)
  • These results taken together suggest that a susceptibility gene for type 2 diabetes mellitus in Japanese will reside in 11p13-p12. (elsevierpure.com)
  • The identification of the gene responsible for Wilms tumor did not occur until 1990, when 3 groups independently identified the WT1 gene on band 11p13. (medscape.com)
  • [ 6 ] Wilms tumor occurs in more than 30% of patients with 11p13 deletions. (medscape.com)
  • A rare variant at 11p13 is associated with tuberculosis susceptibility in the Han Chinese population. (cdc.gov)
  • The significant gain clones were found in 11p (11p15.4, 11p15.1, and 11p13). (korea.ac.kr)
  • WAGR syndrome is a rare genetic disorder associated with the deletion of chromosome 11p13, involving genes WT1 and PAX6, and features Wilms' tumor, aniridia, genitourinary anomalies, as well as varying degrees of intellectual disabilities. (chromodisorder.org)
  • After imputation of data from the 1000 Genomes Project into a genome-wide dataset of Ghanaian individuals with tuberculosis and controls, we identified a resistance locus on chromosome 11p13 downstream of the WT1 gene (encoding Wilms tumor 1). (nih.gov)
  • The identification of the gene responsible for Wilms tumor did not occur until 1990, when 3 groups independently identified the WT1 gene on band 11p13. (medscape.com)
  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. (nih.gov)
  • A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. (bvsalud.org)
  • The majority of cases reported to date have hypomorphic mutations in RAG1 and RAG2 genes (11p13). (orpha.net)
  • Síndrome de genes contiguos asociado a supresiones hemicigóticas de la región cromosómica 11p13. (bvsalud.org)
  • Molecular and cytogenetic analyses of microcell hybrid clones demonstrated that metastasis suppressor genes on human chromosomes 8, 10, and 11 were located on 8p23-q12, 10q, 11p13-11.2, respectively. (nih.gov)
  • This means that it is caused by the loss of a section of genes on chromosome 11 (11p13). (ge-shi.net)
  • The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation. (cdc.gov)
  • The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. (nih.gov)
  • A rare variant at 11p13 is associated with tuberculosis susceptibility in the Han Chinese population. (nih.gov)