C Heppner

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi MEN1 gene analysis in sporadic adrenocortical neoplasms
    C Heppner
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1802, USA
    J Clin Endocrinol Metab 84:216-9. 1999
  2. ncbi Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1)
    S J Marx
    Metabolic Diseases Branch, NIDDK, National Institutes of Health, Bethesda, MD 20892 1802, USA
    J Intern Med 243:447-53. 1998
  3. ncbi Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung
    L V Debelenko
    Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, MD 20892, USA
    Hum Mol Genet 6:2285-90. 1997
  4. ncbi Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families
    S K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 12:75-82. 1998
  5. ncbi The gene for multiple endocrine neoplasia type 1: recent findings
    S J Marx
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1802, USA
    Bone 25:119-22. 1999
  6. ncbi Somatic mutation of the MEN1 gene in parathyroid tumours
    C Heppner
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland 20892, USA
    Nat Genet 16:375-8. 1997
  7. ncbi The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation
    C Heppner
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA
    Oncogene 20:4917-25. 2001
  8. ncbi Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription
    S K Agarwal
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Cell 96:143-52. 1999
  9. ncbi Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states
    S K Agarwal
    Metabolic Diseases Branch, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA
    Hum Mol Genet 6:1169-75. 1997
  10. ncbi Positional cloning of the gene for multiple endocrine neoplasia-type 1
    S C Chandrasekharappa
    Laboratory of Gene Transfer, National Human Genome Research Institute NHGRI, National Institutes of Health NIH, Bethesda, MD 20892, USA
    Science 276:404-7. 1997

Collaborators

Detail Information

Publications10

  1. ncbi MEN1 gene analysis in sporadic adrenocortical neoplasms
    C Heppner
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1802, USA
    J Clin Endocrinol Metab 84:216-9. 1999
    ..We conclude that somatic MEN1 mutation within the MEN1-coding region does not occur commonly in sporadic adrenocortical tumors, although the majority of adrenocortical carcinomas exhibit 11q13 loss of heterozygosity...
  2. ncbi Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1)
    S J Marx
    Metabolic Diseases Branch, NIDDK, National Institutes of Health, Bethesda, MD 20892 1802, USA
    J Intern Med 243:447-53. 1998
    ..supporting expectations that MEN1 is a tumour suppressor gene. The 16 observed missense mutations were distributed across the gene, suggesting that many domains are important to its as yet unknown functions...
  3. ncbi Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung
    L V Debelenko
    Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, MD 20892, USA
    Hum Mol Genet 6:2285-90. 1997
    ..The data implicate the MEN1 gene in the pathogenesis of sporadic lung carcinoids, representing the first defined genetic alteration in these tumors...
  4. ncbi Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families
    S K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 12:75-82. 1998
    ..In conclusion, recurring germline mutations account for about half of the mutations in North American MEN1 families. They result from either founder effects or independent occurrence of one mutation more than one time...
  5. ncbi The gene for multiple endocrine neoplasia type 1: recent findings
    S J Marx
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1802, USA
    Bone 25:119-22. 1999
    ..Menin is principally a nuclear protein; menin interacts with junD. Future studies, such as discovery of menin's metabolic pathway, could lead to new opportunities in cell biology and in tumor therapy...
  6. ncbi Somatic mutation of the MEN1 gene in parathyroid tumours
    C Heppner
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland 20892, USA
    Nat Genet 16:375-8. 1997
    ..Thus, somatic MEN1 gene mutation for the mutant allele. Thus, somatic MEN1 gene mutation contributes to tumorigenesis in a substantial number of parathyroid tumours not associated with the MEN1 syndrome...
  7. ncbi The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation
    C Heppner
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA
    Oncogene 20:4917-25. 2001
    ..These observations suggest that menin's ability to interact with NF-kappaB proteins and its modulation of NF-kappaB transactivation contribute to menin's tumor suppressor function...
  8. ncbi Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription
    S K Agarwal
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Cell 96:143-52. 1999
    ..These observations suggest that menin's tumor suppressor function involves direct binding to JunD and inhibition of JunD activated transcription...
  9. ncbi Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states
    S K Agarwal
    Metabolic Diseases Branch, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA
    Hum Mol Genet 6:1169-75. 1997
    ..No MEN1 germline mutation was found in five probands with familial hyperparathyroidism, suggesting that familial hyperparathyroidism often is caused by mutation in another gene or gene(s)...
  10. ncbi Positional cloning of the gene for multiple endocrine neoplasia-type 1
    S C Chandrasekharappa
    Laboratory of Gene Transfer, National Human Genome Research Institute NHGRI, National Institutes of Health NIH, Bethesda, MD 20892, USA
    Science 276:404-7. 1997
    ..The identification of MEN1 will enable improved understanding of the mechanism of endocrine tumorigenesis and should facilitate early diagnosis...