The Experts below are selected from a list of 291 Experts worldwide ranked by ideXlab platform

Mariano A Garciablanco - One of the best experts on this subject based on the ideXlab platform.

  • three tumor suppressor regions on Chromosome 11p identified by high resolution deletion mapping in human non small cell lung cancer
    Proceedings of the National Academy of Sciences of the United States of America, 1994
    Co-Authors: Gerold Bepler, Mariano A Garciablanco
    Abstract:

    Abstract Non-small-cell lung cancer is the leading cause of cancer death for men and women in the industrialized nations. Identification of regions for genes involved in its pathogenesis has been difficult. Data presented here show three distinct regions identified on Chromosome 11p. Two regions on 11p13 distal to the Wilms tumor gene WT1 and on 11p15.5 between the markers HBB and D11S860 are described. The third region on the telomere of 11p15.5 has been previously described and is further delineated in this communication. By high-resolution mapping the size of each of these regions was estimated to be 2-3 megabases. The frequency of somatic loss of genetic information in these regions (57%, 71%, and 45%, respectively) was comparable to that seen in heritable tumors such as Wilms tumor (55%) and retinoblastoma (70%) and suggests their involvement in pathogenesis of non-small-cell lung cancer. Gene dosage analyses revealed duplication of the remaining allele in the majority of cases in the 11p13 and the proximal 11p15.5 region but rarely in the distal 11p15.5 region. In tumors with loss of heterozygosity in all three regions any combination of duplication or simple deletion was observed, suggesting that loss of heterozygosity occurs independently and perhaps at different points in time. These results provide a basis for studies directed at cloning potential tumor-suppressor genes in these regions and for assessing their biological and clinical significance in non-small-cell lung cancer.

Paul A Khavari - One of the best experts on this subject based on the ideXlab platform.

  • activating hras mutation in agminated spitz nevi arising in a nevus spilus
    JAMA Dermatology, 2013
    Co-Authors: Kavita Y Sarin, Charles D Bangs, Athena M Cherry, Susan M Swetter, Paul A Khavari
    Abstract:

    Importance Spitz nevi are benign melanocytic proliferations that can sometimes be clinically and histopathologically difficult to distinguish from melanoma. Agminated Spitz nevi have been reported to arise spontaneously, in association with an underlying nevus spilus, or after radiation or chemotherapy. However, to our knowledge, the genetic mechanism for this eruption has not been described. Observations We report a case of agminated Spitz nevi arising in a nevus spilus and use exome sequencing to identify a clonal activating point mutation in HRAS (GenBank 3265) (c.37G→C) in the Spitz nevi and underlying nevus spilus. We also identify a secondary copy number increase involving HRAS on Chromosome 11p, which occurs during the development of the Spitz nevi. Conclusions and Relevance Our results reveal an activating HRAS mutation in a nevus spilus that predisposes to the formation of Spitz nevi. In addition, we demonstrate a copy number increase in HRAS as a “second hit” during the formation of agminated Spitz nevi, which suggests that both multiple Spitz nevi and solitary Spitz nevi may arise through similar molecular pathways. In addition, we describe a unique investigative approach for the discovery of genetic alterations in Spitz nevi.

Gerold Bepler - One of the best experts on this subject based on the ideXlab platform.

  • three tumor suppressor regions on Chromosome 11p identified by high resolution deletion mapping in human non small cell lung cancer
    Proceedings of the National Academy of Sciences of the United States of America, 1994
    Co-Authors: Gerold Bepler, Mariano A Garciablanco
    Abstract:

    Abstract Non-small-cell lung cancer is the leading cause of cancer death for men and women in the industrialized nations. Identification of regions for genes involved in its pathogenesis has been difficult. Data presented here show three distinct regions identified on Chromosome 11p. Two regions on 11p13 distal to the Wilms tumor gene WT1 and on 11p15.5 between the markers HBB and D11S860 are described. The third region on the telomere of 11p15.5 has been previously described and is further delineated in this communication. By high-resolution mapping the size of each of these regions was estimated to be 2-3 megabases. The frequency of somatic loss of genetic information in these regions (57%, 71%, and 45%, respectively) was comparable to that seen in heritable tumors such as Wilms tumor (55%) and retinoblastoma (70%) and suggests their involvement in pathogenesis of non-small-cell lung cancer. Gene dosage analyses revealed duplication of the remaining allele in the majority of cases in the 11p13 and the proximal 11p15.5 region but rarely in the distal 11p15.5 region. In tumors with loss of heterozygosity in all three regions any combination of duplication or simple deletion was observed, suggesting that loss of heterozygosity occurs independently and perhaps at different points in time. These results provide a basis for studies directed at cloning potential tumor-suppressor genes in these regions and for assessing their biological and clinical significance in non-small-cell lung cancer.

Y Yazaki - One of the best experts on this subject based on the ideXlab platform.

  • long qt syndrome with insulin dependent diabetes mellitus contiguous gene syndrome on Chromosome 11p
    Journal of Internal Medicine, 1993
    Co-Authors: Takehiko Ohzeki, A Tamura, Keiichi Hanaki, Y Kohno, Hirofumi Urashima, Hirofumi Okuda, Yoshihiro Ogihara, Kazuo Shiraki, Y Utsunomiya, Y Yazaki
    Abstract:

    . Long QT syndrome (Romano-Ward syndrome) and insulin-dependent diabetes mellitus (IDDM) have been documented as being linked with gene(s) on Chromosome 11p although concurrence of the two disorders has not been reported. Our case is a 13-year-old boy with Romano-Ward syndrome accompanied by IDDM. The long QT syndrome seemed to be transmitted in an autosomal-dominant mode because the Q-T intervals of his father and paternal grandfather were longer than normal. There was no family member with an abnormally high level of blood glucose except the patient. The human leucocyte antigen (HLA) haplotypes of the patient and the father were DR4/DR9 and DR2/DR9, respectively. This study suggests that in our patient IDDM, as well as Romano-Ward syndrome, is linked with Chromosome 11p in the presence of HLA-DR4. The results support the previous study that Chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility.

Ramon Brugada - One of the best experts on this subject based on the ideXlab platform.