F S Collins

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc 2005 William Allan Award address. No longer just looking under the lamppost
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 6050, USA
    Am J Hum Genet 79:421-6. 2006
  2. ncbi request reprint The Human Genome Project: lessons from large-scale biology
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, Building 31, Room 4B09, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Science 300:286-90. 2003
  3. ncbi request reprint New goals for the U.S. Human Genome Project: 1998-2003
    F S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Science 282:682-9. 1998
  4. ncbi request reprint What we do and don't know about 'race', 'ethnicity', genetics and health at the dawn of the genome era
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 36:S13-5. 2004
  5. ncbi request reprint The case for a US prospective cohort study of genes and environment
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, Building 31, Room 4B09, MSC 2152, 31 Center Drive, Bethesda, Maryland 20892 2152, USA
    Nature 429:475-7. 2004
  6. ncbi request reprint The Human Genome Project. Revealing the shared inheritance of all humankind
    F S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 2152, USA
    Cancer 91:221-5. 2001
  7. ncbi request reprint Implications of the Human Genome Project for medical science
    F S Collins
    National Human Genome Research Institute, National Institutes of Health, 31 Center Dr, MSC 2152, Bldg 31 Room 4B09, Bethesda, MD 20892 2152, USA
    JAMA 285:540-4. 2001
  8. ncbi request reprint Characterization of a MEN1 ortholog from Drosophila melanogaster
    S C Guru
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, 49 Convent Drive, Bethesda, MD 20892, USA
    Gene 263:31-8. 2001
  9. ncbi request reprint Isolation, characterization, expression and functional analysis of the zebrafish ortholog of MEN1
    P Manickam
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bldg 49, Rm 3E13, 49 Convent Drive, Bethesda, Maryland 20892 4442, USA
    Mamm Genome 11:448-54. 2000
  10. ncbi request reprint Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers
    S M Lipkin
    Genetics and Molecular Biology Branch and Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland 20892 6050, USA
    Hum Mutat 17:389-96. 2001

Detail Information

Publications124 found, 100 shown here

  1. pmc 2005 William Allan Award address. No longer just looking under the lamppost
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 6050, USA
    Am J Hum Genet 79:421-6. 2006
  2. ncbi request reprint The Human Genome Project: lessons from large-scale biology
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, Building 31, Room 4B09, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Science 300:286-90. 2003
  3. ncbi request reprint New goals for the U.S. Human Genome Project: 1998-2003
    F S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Science 282:682-9. 1998
    ....
  4. ncbi request reprint What we do and don't know about 'race', 'ethnicity', genetics and health at the dawn of the genome era
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 36:S13-5. 2004
    ..Research must move beyond these weak and imperfect proxy relationships to define the more proximate factors that influence health...
  5. ncbi request reprint The case for a US prospective cohort study of genes and environment
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, Building 31, Room 4B09, MSC 2152, 31 Center Drive, Bethesda, Maryland 20892 2152, USA
    Nature 429:475-7. 2004
    ..The time is right for the United States to consider such a project...
  6. ncbi request reprint The Human Genome Project. Revealing the shared inheritance of all humankind
    F S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 2152, USA
    Cancer 91:221-5. 2001
    ..We must all work together to ensure that the risks of such research are considered carefully and that the medical benefits are made available to all...
  7. ncbi request reprint Implications of the Human Genome Project for medical science
    F S Collins
    National Human Genome Research Institute, National Institutes of Health, 31 Center Dr, MSC 2152, Bldg 31 Room 4B09, Bethesda, MD 20892 2152, USA
    JAMA 285:540-4. 2001
    ..Genomic medicine holds the ultimate promise of revolutionizing the diagnosis and treatment of many illnesses...
  8. ncbi request reprint Characterization of a MEN1 ortholog from Drosophila melanogaster
    S C Guru
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, 49 Convent Drive, Bethesda, MD 20892, USA
    Gene 263:31-8. 2001
    ..The identification of the MEN1 ortholog from Drosophila melanogaster will provide an opportunity to utilize Drosophila genetics to enhance our understanding of the function of human menin...
  9. ncbi request reprint Isolation, characterization, expression and functional analysis of the zebrafish ortholog of MEN1
    P Manickam
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bldg 49, Rm 3E13, 49 Convent Drive, Bethesda, Maryland 20892 4442, USA
    Mamm Genome 11:448-54. 2000
    ..Zebrafish menin binds both human and mouse JunD, and represses JunD-induced transcription, indicating that the JunD-binding ability of menin is evolutionarily conserved...
  10. ncbi request reprint Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers
    S M Lipkin
    Genetics and Molecular Biology Branch and Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland 20892 6050, USA
    Hum Mutat 17:389-96. 2001
    ..The finding of an appreciable frequency of somatic MLH3 mutations is consistent with a possible role for this gene in the progression of colorectal cancer tumorigenesis. Hum Mutat 17:389-396, 2001. Published 2001 Wiley-Liss, Inc...
  11. ncbi request reprint 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...
  12. pmc Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs
    S Ghosh
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 96:2198-203. 1999
    ..We found no evidence that sequence changes in this gene accounted for the linkage results we observed...
  13. ncbi request reprint Bidirectional transcriptional activity of PGK-neomycin and unexpected embryonic lethality in heterozygote chimeric knockout mice
    P C Scacheri
    National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland 20892, USA
    Genesis 30:259-63. 2001
    ..This example serves as a cautionary reminder that mouse knockouts using PGK-neo may sometimes display phenotypes that reflect more than just the loss of function of the targeted gene...
  14. ncbi request reprint 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...
  15. ncbi request reprint 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...
  16. ncbi request reprint 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...
  17. ncbi request reprint Isolation, genomic organization, and expression analysis of Men1, the murine homolog of the MEN1 gene
    S C Guru
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 3E 13, 49 Convent Drive, Bethesda, Maryland, 20892 4442, USA
    Mamm Genome 10:592-6. 1999
    ..The levels of mouse menin do not appear to fluctuate during the cell cycle...
  18. ncbi request reprint Substrate nucleotide-determined non-templated addition of adenine by Taq DNA polymerase: implications for PCR-based genotyping and cloning
    V L Magnuson
    National Center for Human Genome Research, National Institutes of Health, Bethesda, MD, USA
    Biotechniques 21:700-9. 1996
    ..The methods we propose can substantially improve allele-calling for problematic microsatellite markers when using GENOTYPER software...
  19. pmc A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors
    J S Crabtree
    National Human Genome Research Institute, National Cancer Institute, and National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 98:1118-23. 2001
    ..All of the tumors tested to date show loss of the wild-type Men1 allele, further supporting its role as a tumor suppressor gene...
  20. ncbi request reprint Approach to genotyping errors caused by nontemplated nucleotide addition by Taq DNA polymerase
    J R Smith
    National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genome Res 5:312-7. 1995
    ..In this study we estimate a 1% to 3% error rate attributable to nontemplated nucleotide addition in the ABI PRISM genotyping system. We present a PCR-based strategy to minimize this source of error...
  21. ncbi request reprint Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U.S. Investigation of NIDDM Genetics) Study Group
    S Ghosh
    Positional Cloning Section, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genome Res 7:165-78. 1997
    ..The final data can then be converted into a format ready for analysis by statistical genetic packages such as MENDEL...
  22. pmc Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing
    J S Humphrey
    Medicine Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 94:5820-5. 1997
    ....
  23. ncbi request reprint A vision for the future of genomics research
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nature 422:835-47. 2003
  24. ncbi request reprint Menin molecular interactions: insights into normal functions and tumorigenesis
    S K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases NIH, 9000 Rockville Pike, Bethesda, MD 20892 1802, USA
    Horm Metab Res 37:369-74. 2005
    ..Inactivation of menin switches its JunD partner from a downstream action of growth suppression to growth promotion. This is a plausible mechanism for menin tumorigenesis...
  25. pmc Of mice and MEN1: Insulinomas in a conditional mouse knockout
    Judy S Crabtree
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Cell Biol 23:6075-85. 2003
    ..Comparative genomic hybridization of beta cell tumor DNA from these mice reveals duplication of chromosome 11, potentially revealing regions of interest with respect to tumorigenesis...
  26. ncbi request reprint 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...
  27. ncbi request reprint Structure of the leukemia-associated human CBFB gene
    A Hajra
    Laboratory of Gene Transfer, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genomics 26:571-9. 1995
    ..The 5' end of the human CBFB gene also contains a highly polymorphic, transcribed CGG repeat that is not present in the murine homologue...
  28. ncbi request reprint 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...
  29. ncbi request reprint The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
    J P Struewing
    Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 11:198-200. 1995
    ..9% of Ashkenazim (95% confidence limit, 0.4-1.8%) and in none of the reference samples. Our results suggest that one in a hundred women of Ashkenazi descent may be at especially high risk of developing breast and/or ovarian cancer...
  30. ncbi request reprint Mutations in the human Jagged1 gene are responsible for Alagille syndrome
    T Oda
    Laboratory of Gene Transfer, National Human Genome Research Institutes of Health, Bethesda, Maryland 20892 4442, USA
    Nat Genet 16:235-42. 1997
    ..We conclude that AGS is caused by haploinsufficiency of JAG1...
  31. ncbi request reprint 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)...
  32. ncbi request reprint Genome research: the next generation
    F S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Cold Spring Harb Symp Quant Biol 68:49-54. 2003
  33. ncbi request reprint Acute myeloid leukemia with Inv (16) produces a chimeric transcription factor with a myosin heavy chain tail
    P Liu
    Laboratory of Gene Transfer, National Institutes of Health, Bethesda, Maryland 20892, USA
    Cold Spring Harb Symp Quant Biol 59:547-53. 1994
  34. ncbi request reprint Hyperparathyroidism in hereditary syndromes: special expressions and special managements
    Stephen J Marx
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892 1802, USA
    J Bone Miner Res 17:N37-43. 2002
    ..The CASR test, perhaps least urgent, has largely been unavailable. Further progress in molecular genetics will enhance understandings, diagnosis, and therapy of HPT...
  35. pmc Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)
    Gregory E Crawford
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genome Res 16:123-31. 2006
    ..This strategy, which can be applied to any cell line or tissue, will enable a better understanding of how chromatin structure dictates cell function and fate...
  36. ncbi request reprint Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1
    Peter C Scacheri
    National Human Genome Research Institute, National Institutes of Health, Bldg 31, Room 4B09, 31 Center Drive, Bethesda, Maryland 20892, USA
    Mamm Genome 15:872-7. 2004
    ..These results argue against certain hypotheses previously proposed for the tissue specificity of tumor suppressor genes and provide insights to the mechanism of tissue specificity in MEN1...
  37. ncbi request reprint Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes
    Kaisa Silander
    Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, USA
    Diabetes 53:1141-9. 2004
    ....
  38. pmc Core binding factor beta-smooth muscle myosin heavy chain chimeric protein involved in acute myeloid leukemia forms unusual nuclear rod-like structures in transformed NIH 3T3 cells
    C Wijmenga
    Laboratory of Gene Transfer, National Center for Human Genome Research, Bethesda, MD 20892 4470, USA
    Proc Natl Acad Sci U S A 93:1630-5. 1996
    ..These observations confirm previous indirect evidence that the CBFbeta-SMMHC fusion protein is capable of forming macromolecular nuclear aggregates and suggests possible models for the mechanism of leukemic transformation...
  39. ncbi request reprint Identification of a new murine runt domain-containing gene, Cbfa3, and localization of the human homolog, CBFA3, to chromosome 1p35-pter
    C Wijmenga
    Laboratory of Gene Transfer, National Center for Human Genome Research, Bethesda, Maryland 20892, USA
    Genomics 26:611-4. 1995
    ..The corresponding regions of mouse Cbfa3 and human CBFA3 show 91% nucleotide identity and 100% protein identity. In situ hybridization and physical mapping of somatic cell hybrids localized CBFA3 to chromosome 1p35-pter...
  40. ncbi request reprint 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...
  41. ncbi request reprint 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...
  42. pmc Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis
    Peter C Scacheri
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    PLoS Genet 2:e51. 2006
    ..Our findings expand the realm of menin-targeted genes several hundred-fold beyond that previously described and provide potential insights to the endocrine tumor bias observed in MEN1 patients...
  43. pmc High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools
    Karen L Mohlke
    Genome Technology Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 99:16928-33. 2002
    ..Based on these data and assuming pools of 500 individuals, we conclude that at significance level 0.05 we would have 95% (82%) power to detect population allele frequency differences of 0.07 for control allele frequencies of 0.10 (0.50)...
  44. ncbi request reprint Mapping the cancer genome. Pinpointing the genes involved in cancer will help chart a new course across the complex landscape of human malignancies
    Francis S Collins
    The Cancer Genome Atlas initiative, National Human Genome Research Institute, USA
    Sci Am 296:50-7. 2007
  45. ncbi request reprint MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability
    S M Lipkin
    Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA
    Nat Genet 24:27-35. 2000
    ..Functional redundancy among Mlh3, Pms1 and Pms2 may explain why neither Pms1 nor Pms2 mutant mice develop colon cancer, and why PMS1 and PMS2 mutations are only rarely found in HNPCC families...
  46. ncbi request reprint Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search
    J R Smith
    National Center for Human Genome Research, National Institutes of Health, Bethesda, MD, USA
    Science 274:1371-4. 1996
    ..The data provide strong evidence of a major prostate cancer susceptibility locus on chromosome 1...
  47. pmc Overexpression of core-binding factor alpha (CBF alpha) reverses cellular transformation by the CBF beta-smooth muscle myosin heavy chain chimeric oncoprotein
    A Hajra
    Laboratory of Gene Transfer, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Cell Biol 15:4980-9. 1995
    ..These results suggest that CBF beta-SMMHC interferes with the normal function of CBF and that this interference is necessary but not sufficient for cellular transformation...
  48. pmc Characterization of the CHD family of proteins
    T Woodage
    Laboratory of Gene Transfer, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 94:11472-7. 1997
    ....
  49. ncbi request reprint Nurses and the genomic revolution
    Jean Jenkins
    National Human Genome Research Institute, National Institutes of Health, 31 Center Drive, Building 31, Room 4B09, Bethesda, MD 20892, USA
    J Nurs Scholarsh 37:98-101. 2005
    ..To increase nurses' genetics and genomics literacy through a series of articles focused on genomic research discoveries and their importance for nursing education, practice, policy, and research...
  50. pmc Parathyroid tumor development involves deregulation of homeobox genes
    H C Jennifer Shen
    Tumor Angiogenesis Section, Surgery Branch, National Cancer Institute, NIH, Bethesda, MD 20892, USA
    Endocr Relat Cancer 15:267-75. 2008
    ..Our results strongly reinforce the idea that abnormal expression of developmental HOX genes can be critical in human cancer progression...
  51. ncbi request reprint Race and ethnicity in the genome era: the complexity of the constructs
    Vence L Bonham
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am Psychol 60:9-15. 2005
    ..Interdisciplinary research teams are needed in which psychologists, as well as other social and behavioral scientists, work collaboratively with geneticists and other natural scientists...
  52. ncbi request reprint NIH Molecular Libraries Initiative
    Christopher P Austin
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Science 306:1138-9. 2004
  53. pmc The HapMap and genome-wide association studies in diagnosis and therapy
    Teri A Manolio
    National Human Genome Research Institute, Bethesda, Maryland 20892, USA
    Annu Rev Med 60:443-56. 2009
    ....
  54. pmc Alternative splicing of TCF7L2 gene in omental and subcutaneous adipose tissue and risk of type 2 diabetes
    Ludmila Prokunina-Olsson
    Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 4:e7231. 2009
    ..We hypothesized that these genetic variants might increase the risk of T2D through regulation of alternative splicing or expression level of TCF7L2 in human adipose tissue...
  55. ncbi request reprint Pancreatic insulinomas in multiple endocrine neoplasia, type I knockout mice can develop in the absence of chromosome instability or microsatellite instability
    Peter C Scacheri
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 2152, USA
    Cancer Res 64:7039-44. 2004
    ..Thus, the somatic genetic changes that are postulated to lead to tumorigenesis in a mouse model of MEN1 must be unusually subtle, occurring at either the nucleotide level or through epigenetic mechanisms...
  56. pmc The knockout mouse project
    Christopher P Austin
    National Human Genome Research Institute, National Institutes of Health, Building 31, Room 4B09, 31 Center Drive, Bethesda, Maryland 20892, USA
    Nat Genet 36:921-4. 2004
    ..It is time to harness new technologies and efficiencies of production to mount a high-throughput international effort to produce and phenotype knockouts for all mouse genes, and place these resources into the public domain...
  57. pmc Distribution of menin-occupied regions in chromatin specifies a broad role of menin in transcriptional regulation
    Sunita K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1802, USA
    Neoplasia 9:101-7. 2007
    ..These unbiased data also suggest that menin could play a broad role in transcriptional regulation...
  58. ncbi request reprint Realizing the promise of genomics in biomedical research
    Alan E Guttmacher
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 2152, USA
    JAMA 294:1399-402. 2005
  59. ncbi request reprint Genetic ophthalmology and the era of clinical care
    Paul A Sieving
    National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    JAMA 297:733-6. 2007
  60. doi request reprint The genome gets personal--almost
    W Gregory Feero
    The National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 2152, USA
    JAMA 299:1351-2. 2008
  61. ncbi request reprint The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations
    Atsushi Ozawa
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1802, USA
    J Clin Endocrinol Metab 92:1948-51. 2007
    ..The prevalence of identified MEN1 mutations in this variant is lower than in familial MEN1 (7% vs. 90%), suggesting different causes. Recently, one case of this variant had a germline mutation of p27(Kip1)/CDKN1B...
  62. ncbi request reprint Genes, environment and the value of prospective cohort studies
    Teri A Manolio
    National Human Genome Research Institute, 31 Center Drive, Room 4B09, Bethesda, Maryland 20892 2154, USA
    Nat Rev Genet 7:812-20. 2006
    ..This and other strengths of prospective cohort studies make them invaluable for understanding gene-environment interactions in complex human disease...
  63. pmc A HapMap harvest of insights into the genetics of common disease
    Teri A Manolio
    National Human Genome Research Institute, 31 Center Drive, Room 4B 09, Bethesda, Maryland 20892 2154, USA
    J Clin Invest 118:1590-605. 2008
    ..In this review we examine the origin, development, and current status of the HapMap; its prospects for continued evolution; and its current and potential future impact on biomedical science...
  64. doi request reprint Retrospective: Victor A. McKusick (1921-2008)
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Science 321:925. 2008
  65. pmc Tissue-specific alternative splicing of TCF7L2
    Ludmila Prokunina-Olsson
    Genome Technology Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
    Hum Mol Genet 18:3795-804. 2009
    ..Alternative splicing of TCF7L2 in pancreatic islets warrants future studies. GenBank Accession Numbers: FJ010164-FJ010174...
  66. ncbi request reprint Replicating genotype-phenotype associations
    Stephen J Chanock
    Division of Cancer Epidemiology and Genetics, Bethesda, Maryland 20892 4605, USA
    Nature 447:655-60. 2007
  67. ncbi request reprint New models of collaboration in genome-wide association studies: the Genetic Association Information Network
    Teri A Manolio
    National Human Genome Research Institute, US National Institutes of Health NIH, 31 Center Drive, Bethesda, Maryland 20892, USA
    Nat Genet 39:1045-51. 2007
    ..These demonstrate a new commitment to shared scientific knowledge that should facilitate rapid advances in understanding the genetics of complex diseases...
  68. pmc Toxicology. Transforming environmental health protection
    Francis S Collins
    National Human Genome Research Institute NHGRI, National Institutes of Health, Bethesda, MD 20892, USA
    Science 319:906-7. 2008
  69. ncbi request reprint Parathyroid gland-specific deletion of the mouse Men1 gene results in parathyroid neoplasia and hypercalcemic hyperparathyroidism
    Steven K Libutti
    Surgery Branch, Center for Cancer Research, National Cancer Institute NIH, 10 Center Drive, Room 2B07, Bethesda, MD 20892, USA
    Cancer Res 63:8022-8. 2003
    ..This model provides a means for dissecting the molecular basis of this familial cancer syndrome and may allow for the development of new strategies to treat related forms of hypercalcemia...
  70. pmc Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter
    Sunita K Agarwal
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 100:10770-5. 2003
    ..To conclude, JunD changed from growth suppressor to growth promoter when its binding to menin was prevented by a JunD mutant unable to bind menin or by Men1-null genetic background...
  71. ncbi request reprint Psychiatry in the genomics era
    Thomas R Insel
    National Institute of Mental Health, Bethesda, MD 20892, USA
    Am J Psychiatry 160:616-20. 2003
  72. ncbi request reprint Genomic medicine--a primer
    Alan E Guttmacher
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 2152, USA
    N Engl J Med 347:1512-20. 2002
  73. pmc Short interfering RNAs can induce unexpected and divergent changes in the levels of untargeted proteins in mammalian cells
    Peter C Scacheri
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 101:1892-7. 2004
    ....
  74. pmc The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene
    Karen E Sukhodolets
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1802, USA
    Mol Cell Biol 23:493-509. 2003
    ..This finding was consistent with the extensive overlap in the nuclear localization patterns of endogenous menin, RPA2, and RPA1 observed by immunofluorescence...
  75. pmc Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
    Robert L Strausberg
    National Cancer Institute, Bethessda, MD 20892 2580, USA
    Proc Natl Acad Sci U S A 99:16899-903. 2002
    ..All MGC sequences and clones are available without restriction through public databases and clone distribution networks (see http:mgc.nci.nih.gov)...
  76. pmc Finding the missing heritability of complex diseases
    Teri A Manolio
    National Human Genome Research Institute, Building 31, Room 4B09, 31 Center Drive, MSC 2152, Bethesda, Maryland 20892 2152, USA
    Nature 461:747-53. 2009
    ....
  77. pmc Linkage disequilibrium between microsatellite markers extends beyond 1 cM on chromosome 20 in Finns
    K L Mohlke
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
    Genome Res 11:1221-6. 2001
    ..These data suggest that microsatellites present at 1-cM density are sufficient to observe marker-marker LD in the Finnish population...
  78. pmc Menin, the product of the MEN1 gene, is a nuclear protein
    S C Guru
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 95:1630-4. 1998
    ..However, if expressed, none of the truncated menin proteins resulting from the 43 known frameshift/nonsense mutations would retain both the NLSs. The precise role(s) of menin in the nucleus remain to be understood...
  79. ncbi request reprint Evolutionary sequence comparisons using high-density oligonucleotide arrays
    J G Hacia
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 18:155-8. 1998
    ..DNA-chip based assays can be a valuable new technology for obtaining high-throughput cost-effective sequence information from related genomes...
  80. ncbi request reprint Genes, environment, health, and disease: facing up to complexity
    Teri A Manolio
    National Human Genome Research Institute, NIH, Bethesda, MD 20892 2152, USA
    Hum Hered 63:63-6. 2007
  81. ncbi request reprint A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14
    Kaisa Silander
    Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, USA
    Diabetes 53:821-9. 2004
    ....
  82. pmc A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells
    Kan Cao
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 104:4949-54. 2007
    ..Our findings present evidence of mitotic abnormality in HGPS and may shed light on the general phenomenon of aging...
  83. pmc Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3
    M Centola
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health NIH, Bethesda, Maryland 20892 1820, USA
    Genome Res 8:1172-91. 1998
    ..This transcript map not only has permitted the identification of the FMF gene (MEFV), but also has provided us an opportunity to probe the structural and functional features of this region of chromosome 16...
  84. pmc The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage
    K D Brown
    Laboratory of Gene Transfer, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 94:1840-5. 1997
    ..These findings are consistent with a role for the ATM protein in ensuring the fidelity of DNA repair and cell cycle regulation following genome damage...
  85. ncbi request reprint Merging and emerging cohorts: necessary but not sufficient
    Francis S Collins
    National Human Genome Research Institute, National Institutes of Health, 31 Center Drive, Bethesda, Maryland 20892 2152, USA
    Nature 445:259. 2007
  86. ncbi request reprint Evaluation of SLC2A10 (GLUT10) as a candidate gene for type 2 diabetes and related traits in Finns
    Karen L Mohlke
    Genome Technology Branch, National Human Genome Research Institute, Bethesda, MD, USA
    Mol Genet Metab 85:323-7. 2005
    ..We tested haplotypes for association with diabetes-related traits and observed no excess of significant results...
  87. pmc Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    Lucia A Hindorff
    Office of Population Genomics, Genome Technology Branch, National Human Genome Research Institute, and National Center for Biotechnology Information, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 106:9362-7. 2009
    ..This new online resource, together with bioinformatic predictions of the underlying functionality at trait/disease-associated loci, is well-suited to guide future investigations of the role of common variants in complex disease etiology...
  88. ncbi request reprint A user's guide to the human genome
    Tyra G Wolfsberg
    National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA
    Nat Genet 32:1-79. 2002
  89. ncbi request reprint Power to the people. A User's Guide to the Human Genome. Foreward
    Andreas D Baxevanis
    National Human Genome Research Institute, USA
    Nat Genet 35:2. 2003
  90. ncbi request reprint The family history--more important than ever
    Alan E Guttmacher
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 2152, USA
    N Engl J Med 351:2333-6. 2004
  91. ncbi request reprint Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays
    J G Hacia
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genome Res 8:1245-58. 1998
    ..DNA chip-based assays should play a valuable role in high throughput sequence analysis of complex genes...
  92. ncbi request reprint Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland
    S E Olufemi
    Laboratory of Gene Transfer, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 4442, USA
    Hum Mutat 11:264-9. 1998
    ..5 Mb region. A nonsense mutation in the MEN1 gene has been found to be responsible for the disease in the affected members in all four of the MEN1Burin families, providing convincing evidence of a common founder...
  93. ncbi request reprint Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11
    L H Castilla
    Laboratory of Gene Transfer, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892, USA
    Cell 87:687-96. 1996
    ..An impairment of primitive hematopoiesis was also observed, however, suggesting a possible additional function of Cbfb-MYH11...
  94. ncbi request reprint Mouse embryo fibroblasts lacking the tumor suppressor menin show altered expression of extracellular matrix protein genes
    Youngmi Ji
    Genome Technology Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA
    Mol Cancer Res 5:1041-51. 2007
    ..The expression changes associated with the loss of the tumor suppressor menin provide insights into the defective organogenesis observed during early embryonic development in Men1-null mouse embryos...
  95. pmc Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites
    Gregory E Crawford
    Genome Technology Branch and National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 101:992-7. 2004
    ....
  96. doi request reprint MicroRNA target site polymorphisms and human disease
    Praveen Sethupathy
    National Human Genome Research Institute, Bethesda, MD 20892 8004, USA
    Trends Genet 24:489-97. 2008
    ..Specifically, we highlight the importance of unbiased association studies and follow-up functional experiments for providing a clearer picture of the extent to which microRNA target site variations are relevant in various human diseases...
  97. ncbi request reprint Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns
    Lori L Bonnycastle
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 2152, USA
    Diabetes 55:2534-40. 2006
    ..Our data suggest that common variants in several MODY genes play a modest role in type 2 diabetes susceptibility...
  98. ncbi request reprint Molecular pathology of the MEN1 gene
    Sunita K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ann N Y Acad Sci 1014:189-98. 2004
    ..The Men1+/- mouse has robust MEN1; its most important difference from human MEN1 is marked hyperplasia of pancreatic islets, a tumor precursor stage...
  99. pmc In vitro hematopoietic differentiation of mouse embryonic stem cells requires the tumor suppressor menin and is mediated by Hoxa9
    Elizabeth Novotny
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mech Dev 126:517-22. 2009
    ..These results suggest that, similar to MLL, menin is required for hematopoiesis, and this requirement may be mediated through regulation of Hoxa9 expression...
  100. pmc Phenotype and course of Hutchinson-Gilford progeria syndrome
    Melissa A Merideth
    National Human Genome Research Institute, Intramural Office of Rare Disease, National Institutes of Health, Bethesda, MD 20892 1851, USA
    N Engl J Med 358:592-604. 2008
    ....
  101. pmc DNase-chip: a high-resolution method to identify DNase I hypersensitive sites using tiled microarrays
    Gregory E Crawford
    National Human Genome Research Institute, National Institutes of Health, Building 31, Room 4B09, Bethesda, Maryland 20892, USA
    Nat Methods 3:503-9. 2006
    ..This method can be applied globally or in a targeted fashion to any tissue from any species with a sequenced genome...