M C Skarulis

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi Thyroid hormone induced brown adipose tissue and amelioration of diabetes in a patient with extreme insulin resistance
    Monica C Skarulis
    Clinical Endocrine Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892 1613, USA
    J Clin Endocrinol Metab 95:256-62. 2010
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. ncbi Assessing the effects of thyroid suppression on benign solitary thyroid nodules. A model for using quantitative research synthesis
    G Csako
    Clinical Pathology Department, Clin Ctr, NIH, Bethesda, MD 20892 1508, USA
    Medicine (Baltimore) 79:9-26. 2000
  8. ncbi Treatment of hypercalcemia secondary to parathyroid carcinoma with a novel calcimimetic agent
    M T Collins
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 83:1083-8. 1998
  9. ncbi Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1
    C A Stratakis
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institute of Health, Bethesda, MD 20892 1862, USA
    J Clin Endocrinol Metab 85:4776-80. 2000
  10. ncbi Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant
    S A Phillips
    Diabetes and Molecular Regulation and Neuroendocrinology Sections, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 86:5142-7. 2001

Collaborators

Detail Information

Publications15

  1. ncbi Thyroid hormone induced brown adipose tissue and amelioration of diabetes in a patient with extreme insulin resistance
    Monica C Skarulis
    Clinical Endocrine Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892 1613, USA
    J Clin Endocrinol Metab 95:256-62. 2010
    ..Factors leading to increased BAT are of great interest for its potential role in the treatment of diabetes and obesity...
  2. 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...
  3. 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...
  4. 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)...
  5. 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...
  6. 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...
  7. ncbi Assessing the effects of thyroid suppression on benign solitary thyroid nodules. A model for using quantitative research synthesis
    G Csako
    Clinical Pathology Department, Clin Ctr, NIH, Bethesda, MD 20892 1508, USA
    Medicine (Baltimore) 79:9-26. 2000
    ..Finally, quantitative assessment of available evidence as described here may be applicable to the review of other controversial issues as well...
  8. ncbi Treatment of hypercalcemia secondary to parathyroid carcinoma with a novel calcimimetic agent
    M T Collins
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 83:1083-8. 1998
    ..During 2 yr of treatment, no adverse clinical effects have been observed, and it appears to have been effective at controlling hypercalcemia...
  9. ncbi Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1
    C A Stratakis
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institute of Health, Bethesda, MD 20892 1862, USA
    J Clin Endocrinol Metab 85:4776-80. 2000
    ..This patient represents the earliest presentation of any morbid endocrine tumor in MEN 1. A better understanding of early onset MEN 1 disease is needed to formulate recommendations for early MEN 1 genetic testing...
  10. ncbi Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant
    S A Phillips
    Diabetes and Molecular Regulation and Neuroendocrinology Sections, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 86:5142-7. 2001
    ..It is likely that the severely defective TRbeta mutant contributed to the extreme RTH phenotype and resistance in our patient...
  11. ncbi Multiple endocrine neoplasia type 1: new clinical and basic findings
    D H Schussheim
    Metabolic Diseases Branch, NIDDK, NIH, 20892, Bethesda, MD 20892, USA
    Trends Endocrinol Metab 12:173-8. 2001
    ....
  12. ncbi Reoperation for hyperparathyroidism in multiple endocrine neoplasia type 1
    M H Kivlen
    Surgery Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Surgery 130:991-8. 2001
    ..The total number of glands accounted for after reoperation is not associated with successful outcome...
  13. ncbi Effectiveness of long-acting octreotide in suppressing hormonogenesis and tumor growth in thyrotropin-secreting pituitary adenomas: report of two cases
    L Gourgiotis
    Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Pituitary 4:135-43. 2001
    ..CONCLUSION: Our date corroborate earlier reports on the usefulness of SMS-LAR in the medical management of patients with TSPA's who have residual disease after initial pituitary surgery and/or irradiation...
  14. ncbi Multiple leiomyomas of the esophagus, lung, and uterus in multiple endocrine neoplasia type 1
    J L McKeeby
    Pediatric and Reproductive Endocrinology Branch, National Institutes of Health, Bethesda, Maryland 20892-1414, USA
    Am J Pathol 159:1121-7. 2001
    ..However, the MEN1 gene is not a significant contributor to the tumorigenesis of sporadic uterine leiomyomata...
  15. ncbi Increased levothyroxine requirements presenting as "inappropriate" TSH secretion syndrome in a patient with nephrotic syndrome
    M T Collins
    National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA
    J Endocrinol Invest 23:383-92. 2000
    ..This pattern of extreme dysregulation in thyroid function indices due to urinary loss of thyroid hormones has not been previously described in NS, and, therefore, extends the spectrum of endocrine manifestations of NS...