C X Deng

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Identification and characterization of cancer initiating cells from BRCA1 related mammary tumors using markers for normal mammary stem cells
    Athanassios Vassilopoulos
    Genetics of Development, Disease Branch, National Institute of Diabetes, Digestive, Kidney Diseases, National Institutes of Health, Bethesda, Maryland, MD 20892, USA
    Int J Biol Sci 4:133-42. 2008
  2. pmc TGF-beta/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage
    X Yang
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Cell Biol 153:35-46. 2001
  3. pmc Conditional knockdown of Fgfr2 in mice using Cre-LoxP induced RNA interference
    Xavier Coumoul
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health Bethesda, Maryland, MD 20892, USA
    Nucleic Acids Res 33:e102. 2005
  4. pmc Anterior visceral endoderm SMAD4 signaling specifies anterior embryonic patterning and head induction in mice
    Cuiling Li
    Mammalian Genetics Section, Genetics of Development and Disease Branch, National Institutes of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 9N105, 10 Center Drive, Bethesda, MD 20892, USA
    Int J Biol Sci 6:569-83. 2010
  5. pmc SIRT1 deacetylates FOXA2 and is critical for Pdx1 transcription and β-cell formation
    Rui Hong Wang
    1 Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland MD 20892, USA
    Int J Biol Sci 9:934-46. 2013
  6. pmc Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice
    Wenmei Li
    Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    Int J Biol Sci 3:120-8. 2007
  7. pmc RNAi-based conditional gene knockdown in mice using a U6 promoter driven vector
    Vivek Shukla
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Int J Biol Sci 3:91-9. 2007
  8. pmc Liver steatosis and increased ChREBP expression in mice carrying a liver specific SIRT1 null mutation under a normal feeding condition
    Rui Hong Wang
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, MD 20892, USA
    Int J Biol Sci 6:682-90. 2010
  9. pmc Murine Wee1 plays a critical role in cell cycle regulation and pre-implantation stages of embryonic development
    Yohei Tominaga
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 9N105, NIH, Bethesda, MD 20892, USA
    Int J Biol Sci 2:161-70. 2006
  10. pmc Progression of chronic liver inflammation and fibrosis driven by activation of c-JUN signaling in Sirt6 mutant mice
    Cuiying Xiao
    Genetics of Development and Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    J Biol Chem 287:41903-13. 2012

Collaborators

Detail Information

Publications116 found, 100 shown here

  1. pmc Identification and characterization of cancer initiating cells from BRCA1 related mammary tumors using markers for normal mammary stem cells
    Athanassios Vassilopoulos
    Genetics of Development, Disease Branch, National Institute of Diabetes, Digestive, Kidney Diseases, National Institutes of Health, Bethesda, Maryland, MD 20892, USA
    Int J Biol Sci 4:133-42. 2008
    ..These data provide evidence that breast cancer stem cells originate from normal stem cells and advance our understanding of BRCA1-associated tumorigenesis with possible implications for future cancer treatment...
  2. pmc TGF-beta/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage
    X Yang
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Cell Biol 153:35-46. 2001
    ..Without these inhibition signals, chondrocytes break quiescent state and undergo abnormal terminal differentiation, ultimately leading to osteoarthritis...
  3. pmc Conditional knockdown of Fgfr2 in mice using Cre-LoxP induced RNA interference
    Xavier Coumoul
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health Bethesda, Maryland, MD 20892, USA
    Nucleic Acids Res 33:e102. 2005
    ..This method provides a fast, yet efficient way to decipher gene functions in vivo in a tissue-specific manner...
  4. pmc Anterior visceral endoderm SMAD4 signaling specifies anterior embryonic patterning and head induction in mice
    Cuiling Li
    Mammalian Genetics Section, Genetics of Development and Disease Branch, National Institutes of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 9N105, 10 Center Drive, Bethesda, MD 20892, USA
    Int J Biol Sci 6:569-83. 2010
    ....
  5. pmc SIRT1 deacetylates FOXA2 and is critical for Pdx1 transcription and β-cell formation
    Rui Hong Wang
    1 Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland MD 20892, USA
    Int J Biol Sci 9:934-46. 2013
    ..These results uncover an essential role of SIRT1 in β-cell formation by maintaining expression of PDX1 and its downstream genes, and identify pancreas-specific SIRT1 mutant mice as a relevant model for studying insulin insufficiency. ..
  6. pmc Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice
    Wenmei Li
    Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    Int J Biol Sci 3:120-8. 2007
    ..These data demonstrate that ELOVL4 is required for VLCFA synthesis that is essential for water permeability barrier function of skin...
  7. pmc RNAi-based conditional gene knockdown in mice using a U6 promoter driven vector
    Vivek Shukla
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Int J Biol Sci 3:91-9. 2007
    ..We now provide a detailed protocol, including a simplified single-step cloning procedure for vector construction. This method provides a fast yet efficient way to decipher gene functions in vivo in a tissue specific manner...
  8. pmc Liver steatosis and increased ChREBP expression in mice carrying a liver specific SIRT1 null mutation under a normal feeding condition
    Rui Hong Wang
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, MD 20892, USA
    Int J Biol Sci 6:682-90. 2010
    ....
  9. pmc Murine Wee1 plays a critical role in cell cycle regulation and pre-implantation stages of embryonic development
    Yohei Tominaga
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 9N105, NIH, Bethesda, MD 20892, USA
    Int J Biol Sci 2:161-70. 2006
    ..These data provide in vivo evidence that mammalian Wee1 plays a critical role in maintaining genome integrity and is essential for embryonic survival at the pre-implantation stage of mouse development...
  10. pmc Progression of chronic liver inflammation and fibrosis driven by activation of c-JUN signaling in Sirt6 mutant mice
    Cuiying Xiao
    Genetics of Development and Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    J Biol Chem 287:41903-13. 2012
    ..These data suggest that Sirt6 plays an anti-inflammatory role in mice by inhibiting c-JUN-dependent expression of proinflammatory genes...
  11. pmc Extracellular domain of CD98hc is required for early murine development
    Yukiyasu Sato
    Section on Molecular Morphogenesis, Laboratory of Gene Regulation and Development, Program in Cellular Regulation and Metabolism PCRM, NICHD, NIH, Bethesda, Maryland, 20892, USA
    Cell Biosci 1:7. 2011
    ..abstract:..
  12. ncbi request reprint Roles of BRCA1 in centrosome duplication
    Chu Xia Deng
    Genetics of Development and Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 9N105, 10 Center Drive, Bethesda, Maryland, MD 20892, USA
    Oncogene 21:6222-7. 2002
    ..This review will examine these data and discuss possible relationships between BRCA1 and its interacting proteins in centrosome duplication...
  13. pmc In celebration of Dr. Mario R. Capecchi's Nobel Prize
    Chuxia Deng
    International Journal of Biological Sciences, NIDDK, National Institutes of Health, 10 9N105, 10 Center Drive, Bethesda, MD 20892, USA
    Int J Biol Sci 3:417-9. 2007
  14. ncbi request reprint Roles of BRCA1 in DNA damage repair: a link between development and cancer
    Chu Xia Deng
    Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, 10 9N105, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 12:R113-23. 2003
    ..In this review, we discuss recent advances regarding our understanding of the functions of BRCA1 in DNA damage repair and cellular responses that link development and cancer...
  15. pmc BRCA1: cell cycle checkpoint, genetic instability, DNA damage response and cancer evolution
    Chu Xia Deng
    Genetics of Development and Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 9N105, 10 Center Drive, Bethesda, MD 20892, USA
    Nucleic Acids Res 34:1416-26. 2006
    ....
  16. ncbi request reprint Tumorigenesis as a consequence of genetic instability in Brca1 mutant mice
    C X Deng
    Genetics of Development and Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 9N105, 10 Center Drive, Bethesda, MD 20892, USA
    Mutat Res 477:183-9. 2001
    ....
  17. ncbi request reprint Knockout mouse models and mammary tumorigenesis
    C X Deng
    Genetics of Development and Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 9N105, Bethesda, MD 20892, USA
    Semin Cancer Biol 11:387-94. 2001
    ..This review summarizes recent studies on tumor suppressor genes, including APC, ATM, BRCA1, BRCA2, PTEN and p53, in knockout mouse models and our understanding of the possible mechanisms underlying mammary tumorigenesis...
  18. ncbi request reprint Tumor formation in Brca1 conditional mutant mice
    Chu Xia Deng
    Genetics of Development and Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Environ Mol Mutagen 39:171-7. 2002
    ..This observation suggests roles for these proteins in Brca1-associated tumorigenesis...
  19. pmc SIRT1, is it a tumor promoter or tumor suppressor?
    Chu Xia Deng
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, MD 20892, USA
    Int J Biol Sci 5:147-52. 2009
    ..Here, I review these recent findings and discuss the possibility that activation of SIRT1 both extends lifespan and inhibits cancer formation...
  20. ncbi request reprint Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development
    C Deng
    Laboratory of Biochemistry and Metabolism, National Institutes of Health, Bethesda, Maryland 20892, USA
    Dev Biol 185:42-54. 1997
    ..Thus, FGFR-1 plays a role in neurulation, suggesting that there may be a connection between FGFR-1-mediated signal pathways and neural tube defects, the most common malformations in the human central nervous system...
  21. ncbi request reprint Roles of BRCA1 and its interacting proteins
    C X Deng
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA
    Bioessays 22:728-37. 2000
    ..This review examines our understanding of the significance of the interactions between BRCA1 and other proteins, through which BRCA1 maintains genome integrity and represses tumor formation. Published 2000 John Wiley & Sons, Inc...
  22. ncbi request reprint A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos
    T Iwata
    Medical Genetics Branch, National Human Genome Research Institute, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 9:1603-13. 2000
    ..This model was successfully crossed with a cartilage-specific CRE: transgenic strain, excluding the lung as the primary cause of lethality...
  23. ncbi request reprint Direct removal in the mouse of a floxed neo gene from a three-loxP conditional knockout allele by two novel approaches
    X Xu
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, Maryland, USA
    Genesis 30:1-6. 2001
    ..These procedures provide options for removing neo directly in the mouse in addition to the commonly used approach that deletes neo in ES cells...
  24. pmc Smad proteins and hepatocyte growth factor control parallel regulatory pathways that converge on beta1-integrin to promote normal liver development
    M Weinstein
    Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20878, USA
    Mol Cell Biol 21:5122-31. 2001
    ..These pathways merge at the beta1-integrin, the level of which was increased by HGF in the cultured mutant livers. HGF treatment reversed the defects in cell proliferation and hepatic architecture in the Smad2(+/-); Smad3(+/-) livers...
  25. ncbi request reprint Murine fibroblast growth factor receptor 1alpha isoforms mediate node regression and are essential for posterior mesoderm development
    X Xu
    National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, 20892, USA
    Dev Biol 208:293-306. 1999
    ..These data demonstrate that FGF/FGFR1alpha signals are posteriorizing factors that control node regression and posterior embryonic development...
  26. ncbi request reprint Genetic interactions between tumor suppressors Brca1 and p53 in apoptosis, cell cycle and tumorigenesis
    X Xu
    Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, 10 9N105, Bethesda, Maryland, USA
    Nat Genet 28:266-71. 2001
    ..These findings provide a mechanism for BRCA1-associated breast carcinogenesis...
  27. ncbi request reprint Multiple genetic changes are associated with mammary tumorigenesis in Brca1 conditional knockout mice
    S G Brodie
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Oncogene 20:7514-23. 2001
    ..Despite their distinct morphology, all cultured tumor cells were Tamoxifen resistant but highly sensitive to Doxorubicin or gamma-irradiation, suggesting that these methods would be effective in treatment of this disease...
  28. ncbi request reprint Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells
    X Xu
    Genetics of Development and Disease Branch, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Cell 3:389-95. 1999
    ..These data uncover an essential role of BRCA1 in maintaining genetic stability through the regulation of centrosome duplication and the G2-M checkpoint and provide a molecular basis for the role of BRCA1 in tumorigenesis...
  29. ncbi request reprint A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures
    Y X Zhou
    Genetics of Development and Disease Branch, NIDDK, NIH, Bethesda, MD 20892, USA
    Hum Mol Genet 9:2001-8. 2000
    ....
  30. ncbi request reprint Hair follicle defects and squamous cell carcinoma formation in Smad4 conditional knockout mouse skin
    W Qiao
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Oncogene 25:207-17. 2006
    ..These observations revealed the essential functions of Smad4-mediated signals in repressing skin tumor formation through the TGFbeta/BMP pathway, which interacts with the Pten signaling pathway...
  31. ncbi request reprint A targeted disruption of the murine Brca1 gene causes gamma-irradiation hypersensitivity and genetic instability
    S X Shen
    Laboratory of Biochemistry and Metabolism, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Oncogene 17:3115-24. 1998
    ..We believe that the increased incidence of such additional mutations accounts for the mechanism of tumorigenesis associated with Brca1 mutations in humans...
  32. ncbi request reprint Overexpression of aurora kinase A in mouse mammary epithelium induces genetic instability preceding mammary tumor formation
    X Wang
    Genetics of Development and Disease Branch, NIDDK, NIH, Bethesda, MD 20892, USA
    Oncogene 25:7148-58. 2006
    ..These data establish Aurora-A as an oncogene that causes malignant transformation through inducing genetic instability and activating oncogenic pathways such as AKT and its downstream signaling...
  33. ncbi request reprint Haploinsufficiency of Parp1 accelerates Brca1-associated centrosome amplification, telomere shortening, genetic instability, apoptosis, and embryonic lethality
    X Wang
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA
    Cell Death Differ 14:924-31. 2007
    ..Thus, haploid loss of Parp1 is sufficient to induce lethality of Brca1-deficient cells, suggesting that partial inhibition of PARP1 may represent a practical chemopreventive/therapeutic approach for BRCA1-associated breast cancer...
  34. ncbi request reprint Inactivation of p53 tumor suppressor gene acts synergistically with c-neu oncogene in salivary gland tumorigenesis
    S G Brodie
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, MD 20892, USA
    Oncogene 20:1445-54. 2001
    ..These observations suggest that in c-neu transgenic mice, p53 alterations have differential tissue effects and may be influenced by the tissue specific expression of genes influencing p53 activity...
  35. ncbi request reprint Partial rescue of the prophase I defects of Atm-deficient mice by p53 and p21 null alleles
    C Barlow
    Laboratory of Genetic Disease Research, National Institute of Diabetes, Digestive and Kidney Disorders, Bethesda, Maryland 20892, USA
    Nat Genet 17:462-6. 1997
    ..Because Atm-deficient mice are viable but completely infertile, our studies suggest that the Rad51 assembly defects and elevated levels of p53, p21 and Bax represent tissue-specific responses to the absence of Atm...
  36. ncbi request reprint Genistein inhibits Brca1 mutant tumor growth through activation of DNA damage checkpoints, cell cycle arrest, and mitotic catastrophe
    Y Tominaga
    Genetics of Development and Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA
    Cell Death Differ 14:472-9. 2007
    ..Furthermore, our data indicated that Brca1 mutant cells were more sensitive to genistein than some other types of cancer cells, highlighting a good therapeutic potential of genistein for BRCA1-associated breast cancer...
  37. ncbi request reprint A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors
    C Li
    Genetics of Development and Diseases Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases National Institutes of Health, 10 Center Drive, Bethesda, MD, USA
    Hum Mol Genet 8:35-44. 1999
    ....
  38. ncbi request reprint Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice
    T Iwata
    Medical Genetics Branch, National Human Genome Research Institute, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, 10 3D51, 10 Center Drive, Bethesda, MD, 20892, USA
    Hum Mol Genet 10:1255-64. 2001
    ..Comparisons of the molecular bases of the phenotypic differences in SADDAN and TDII mice may increase our understanding of the factors that influence the severity in these two related skeletal dysplasias...
  39. ncbi request reprint Genomic instability in Gadd45a-deficient mice
    M C Hollander
    Gene Response Section, DBS, National Cancer Institute, Bethesda, Maryland 20892 4255, USA
    Nat Genet 23:176-84. 1999
    ..Our results indicate that Gadd45a is one component of the p53 pathway that contributes to the maintenance of genomic stability...
  40. ncbi request reprint Fibroblast growth factor receptor 2 (Fgfr2) plays an important role in eyelid and skin formation and patterning
    C Li
    Genetics Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Dev Dyn 222:471-83. 2001
    ..Notably, mutant skin remains thin with decreased hair density after transplantation to wild-type recipients. These data demonstrate an essential role of Fgfr2 in eyelid and skin formation and patterning...
  41. doi request reprint Yin Yang 1 positively regulates BRCA1 and inhibits mammary cancer formation
    M H Lee
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Oncogene 31:116-27. 2012
    ..Taken together, these findings suggest that YY1 is a key regulator of BRCA1 expression and may be causally linked to the molecular etiology of human breast cancer...
  42. ncbi request reprint Angiogenesis defects and mesenchymal apoptosis in mice lacking SMAD5
    X Yang
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Development 126:1571-80. 1999
    ..These data suggest that SMAD5 may regulate endothelium-mesenchyme interactions during angiogenesis and that it is essential for mesenchymal survival...
  43. pmc Cholinergic dilation of cerebral blood vessels is abolished in M(5) muscarinic acetylcholine receptor knockout mice
    M Yamada
    Laboratory of Bioorganic Chemistry National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 98:14096-101. 2001
    ....
  44. pmc Failure of egg cylinder elongation and mesoderm induction in mouse embryos lacking the tumor suppressor smad2
    M Weinstein
    Laboratory of Biochemistry and Metabolism, National Institute of Diabetes and Digestive and Kidney Diseases, 10 9N105, 10 Center Drive, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 95:9378-83. 1998
    ..Molecular analysis showed that smad2 mutant embryos did not undergo gastrulation or make mesoderm. The results demonstrate that smad2 is required for egg cylinder elongation, gastrulation, and mesoderm induction...
  45. ncbi request reprint Haploid loss of the tumor suppressor Smad4/Dpc4 initiates gastric polyposis and cancer in mice
    X Xu
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, MD 20892, USA
    Oncogene 19:1868-74. 2000
    ..These studies demonstrate that Smad4 functions as a tumor suppressor in the gastrointestinal tract and also provide a valuable model for screening factors that promote or prevent gastric tumorigenesis...
  46. ncbi request reprint Conditional mutation of Brca1 in mammary epithelial cells results in blunted ductal morphogenesis and tumour formation
    X Xu
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 22:37-43. 1999
    ..Our results demonstrate that disruption of Brca1 causes genetic instability and triggers further alterations, including the inactivation of p53, that lead to tumour formation...
  47. pmc Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis
    L Chen
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Invest 104:1517-25. 1999
    ..These data reveal an essential role for FGF/FGFR3 signals in both chondrogenesis and osteogenesis during endochondral ossification...
  48. ncbi request reprint FGFR-3 and FGFR-4 function cooperatively to direct alveogenesis in the murine lung
    M Weinstein
    Laboratory of Biochemistry and Metabolism, National Institute of Diabetes, Digestive and Kidney Diseases, 10 Center Drive, National Institutes of Health, Bethesda, MD, USA
    Development 125:3615-23. 1998
    ..These data revealed a cooperative function of FGFR-3 and FGFR-4 to promote the formation of alveoli during postnatal lung development...
  49. pmc p53-mediated DNA repair responses to UV radiation: studies of mouse cells lacking p53, p21, and/or gadd45 genes
    M L Smith
    Division of Basic Science, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Cell Biol 20:3705-14. 2000
    ..We provide evidence that Gadd45 affects chromatin remodelling of templates concurrent with DNA repair, thus indicating that Gadd45 may participate in the coupling between chromatin assembly and DNA repair...
  50. pmc Targeted expression of Cre recombinase to adipose tissue of transgenic mice directs adipose-specific excision of loxP-flanked gene segments
    C Barlow
    Laboratory of Genetic Disease Research, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Nucleic Acids Res 25:2543-5. 1997
    ..Crossing of the aP2/ Cre mice with any loxP-floxed gene will facilitate its functional analysis in adipose tissue...
  51. doi request reprint Synergistic action of Smad4 and Pten in suppressing pancreatic ductal adenocarcinoma formation in mice
    X Xu
    Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Oncogene 29:674-86. 2010
    ....
  52. pmc Impaired DNA damage response, genome instability, and tumorigenesis in SIRT1 mutant mice
    Rui Hong Wang
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Cancer Cell 14:312-23. 2008
    ..Finally, we show that many human cancers exhibit reduced levels of SIRT1 compared to normal controls. Thus, SIRT1 may act as a tumor suppressor through its role in DNA damage response and genome integrity...
  53. ncbi request reprint Atm selectively regulates distinct p53-dependent cell-cycle checkpoint and apoptotic pathways
    C Barlow
    Laboratory of Genetic Disease Research, National Institute of Diabetes, Digestive and Kidney Disorders, Bethesda, Maryland 20892, USA
    Nat Genet 17:453-6. 1997
    ..Our results support a model in which upstream effectors such as Atm selectively activate p53 to regulate specific downstream pathways, providing a mechanism for controlling distinct cell-cycle and apoptotic responses...
  54. doi request reprint Genetic instability and mammary tumor formation in mice carrying mammary-specific disruption of Chk1 and p53
    T Fishler
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD, USA
    Oncogene 29:4007-17. 2010
    ....
  55. ncbi request reprint BRCA1-associated tumorigenesis: what have we learned from knockout mice?
    S G Brodie
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Trends Genet 17:S18-22. 2001
    ....
  56. pmc Edg-1, the G protein-coupled receptor for sphingosine-1-phosphate, is essential for vascular maturation
    Y Liu
    Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland 20892 1821, USA
    J Clin Invest 106:951-61. 2000
    ..Our data reveal Edg-1 to be the first G protein-coupled receptor required for blood vessel formation and show that sphingolipid signaling is essential during mammalian development...
  57. ncbi request reprint Role of the tumor suppressor gene Brca1 in genetic stability and mammary gland tumor formation
    C X Deng
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, MD 20892, USA
    Oncogene 19:1059-64. 2000
    ....
  58. pmc ATM-Chk2-p53 activation prevents tumorigenesis at an expense of organ homeostasis upon Brca1 deficiency
    Liu Cao
    Genetics of Development and Diseases Branch, National Institutes of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    EMBO J 25:2167-77. 2006
    ..Our data highlight how accurate maintenance of genomic integrity is critical for the suppression of both aging and malignancy, and provide a further link between aging and cancer...
  59. ncbi request reprint Genetic interactions between Brca1 and Gadd45a in centrosome duplication, genetic stability, and neural tube closure
    Xiaoyan Wang
    Genetics of Development and Disease Branch, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 279:29606-14. 2004
    ..These observations suggest that NEK2 plays a role in mediating the actions of BRCA1 and GADD45a in regulating centrosome duplication and in maintaining genetic stability...
  60. pmc Interplay among BRCA1, SIRT1, and Survivin during BRCA1-associated tumorigenesis
    Rui Hong Wang
    Genetics of Development and Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    Mol Cell 32:11-20. 2008
    ..These findings suggest that resveratrol treatment serves as an excellent strategy for targeted therapy for BRCA1-associated breast cancer...
  61. ncbi request reprint A role of estrogen/ERalpha signaling in BRCA1-associated tissue-specific tumor formation
    W Li
    of Development and Disease Branch, 10 9N105, NIDDK, National Institutes of Health, Bethesda, MD, USA
    Oncogene 26:7204-12. 2007
    ....
  62. pmc Perilipin ablation results in a lean mouse with aberrant adipocyte lipolysis, enhanced leptin production, and resistance to diet-induced obesity
    J T Tansey
    Laboratory of Cellular and Developmental Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 98:6494-9. 2001
    ..The data reveal a major role for perilipin in adipose lipid metabolism and suggest perilipin as a potential target for attacking problems associated with obesity...
  63. ncbi request reprint Generation and analysis of Brca1 conditional knockout mice
    Chu Xia Deng
    Genetics of Development and Disease Branch, Digetive and Kidney Diseases, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
    Methods Mol Biol 280:185-200. 2004
    ..Finally, we performed functional analysis of mammary tumorigenesis in Brca1 conditional knockout mice. The methods to generate and analyze these Brca1 conditional knockout mice are described in this chapter...
  64. pmc Senescence, aging, and malignant transformation mediated by p53 in mice lacking the Brca1 full-length isoform
    Liu Cao
    Genetics of Development and Diseases Branch, National Institutes of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genes Dev 17:201-13. 2003
    ..These observations provide the first in vivo evidence that links cell senescence to aging due to impaired function of Brca1 at the expense of tumorigenesis...
  65. ncbi request reprint Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families
    Y X Zhou
    Genetics of Development and Disease Branch, Bldg 10/9N104, NIDDK, NIH, 10 Center Dr Bethesda, MD 20892, USA
    Arch Neurol 58:789-94. 2001
    ....
  66. ncbi request reprint Mammary tumors in mice conditionally mutant for Brca1 exhibit gross genomic instability and centrosome amplification yet display a recurring distribution of genomic imbalances that is similar to human breast cancer
    Zoë Weaver
    Genetics Branch, Center for Cancer Research, National Cancer Institute NIH, Bethesda, Maryland 20892, USA
    Oncogene 21:5097-107. 2002
    ..Similar to BRCA1-deficient mouse embryonic fibroblasts, the tumor cells contained supernumerary functional centrosomes with intact centrioles whose presence results in multipolar mitoses and aneuploidy...
  67. pmc Hyperplasia and spontaneous tumor development in the gynecologic system in mice lacking the BRCA1-Delta11 isoform
    Sang Soo Kim
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, 10 9N105, 10 Center Drive, Bethesda, MD 20892, USA
    Mol Cell Biol 26:6983-92. 2006
    ..These observations provide evidence that BRCA1 splicing variants are involved in BRCA1 functions in modulating G(1)/S transition, centrosome duplication, and repressing tumor formation...
  68. pmc Uterus hyperplasia and increased carcinogen-induced tumorigenesis in mice carrying a targeted mutation of the Chk2 phosphorylation site in Brca1
    Sang Soo Kim
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, 10 9N105, 10 Center Dr, Bethesda, MD 20892, USA
    Mol Cell Biol 24:9498-507. 2004
    ..These observations suggest that Chk2 phosphorylation of S971 is involved in Brca1 function in modulating the DNA damage response and repressing tumor formation...
  69. ncbi request reprint Normal lymphocyte development and thymic lymphoma formation in Brca1 exon-11-deficient mice
    Richard Bachelier
    Genetics of Development and Disease Branch, NIDDK, Bethesda, MD, USA
    Oncogene 22:528-37. 2003
    ..The loss of p53 attenuates apoptosis and allows accumulation of further mutations in Brca1-delta11 thymocytes, eventually leading to thymic lymphoma formation...
  70. ncbi request reprint Impaired meiotic DNA-damage repair and lack of crossing-over during spermatogenesis in BRCA1 full-length isoform deficient mice
    Xiaoling Xu
    Department of Physiology, University of Maryland School of Medicine, Baltimore, MD 21201, USA
    Development 130:2001-12. 2003
    ..Thus, our study revealed an essential role of Brca1 in DNA-damage repair and crossing-over of homologous chromosomes during spermatogenesis...
  71. pmc A requirement for breast-cancer-associated gene 1 (BRCA1) in the spindle checkpoint
    Rui Hong Wang
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 101:17108-13. 2004
    ..These data reveal a role of BRCA1 in maintaining genome integrity by interplaying with p53 and genes that are involved in the spindle checkpoint and apoptosis...
  72. ncbi request reprint Absence of full-length Brca1 sensitizes mice to oxidative stress and carcinogen-induced tumorigenesis in the esophagus and forestomach
    Liu Cao
    Genetics of Development and Diseases Branch, National Institutes of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Carcinogenesis 28:1401-7. 2007
    ....
  73. ncbi request reprint Mouse models orthologous to FGFR3-related skeletal dysplasias
    Steven G Brodie
    Genetics of Development and Disease Branch, NIDDK, NIH, 10 9N105, 10 Center Drive, Bethesda, MD 20892, USA
    Pediatr Pathol Mol Med 22:87-103. 2003
    ..In addition, these models may be beneficial in future studies to attempt novel treatment strategies for short-limbed dwarfism...
  74. ncbi request reprint Generation and pharmacological analysis of M2 and M4 muscarinic receptor knockout mice
    J Gomeza
    Laboratory of Bioorganic Chemistry, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA
    Life Sci 68:2457-66. 2001
    ..These findings emphasize the usefulness of gene targeting approaches to shed light on the physiological and pathophysiological roles of the individual muscarinic receptor subtypes...
  75. ncbi request reprint The XIST noncoding RNA functions independently of BRCA1 in X inactivation
    Cuiying Xiao
    Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, 10 9N105, National Institutes of Health, Bethesda, MD 20892, USA
    Cell 128:977-89. 2007
    ..Together, these results do not support a role for BRCA1 in promoting XIST RNA localization to the Xi or regulating XIST-dependent functions in maintaining the stability of facultative heterochromatin...
  76. ncbi request reprint Effect of bilateral oophorectomy on mammary tumor formation in BRCA1 mutant mice
    Richard Bachelier
    Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases NIH, Bethesda, MD 20892, USA
    Oncol Rep 14:1117-20. 2005
    ..The data also show that oophorectomy, if performed significantly prior to the time that tumors arise, appears to be quite effective...
  77. ncbi request reprint A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis
    Lin Chen
    Genetics of Development and Disease Branch, NIDDK NIH, 10 9N105, 10 Center Drive, Bethesda, MD 20892, USA
    Bone 33:169-78. 2003
    ..Thus, our data reveal that dysregulated apoptosis plays an important role in the pathogenesis of AS related phenotypes...
  78. ncbi request reprint FGFR1 function at the earliest stages of mouse limb development plays an indispensable role in subsequent autopod morphogenesis
    Cuiling Li
    Genetics of Development and Disease Branch, NIDDK, NIH, 10 9N105, Bethesda, MD 20892, USA
    Development 132:4755-64. 2005
    ....
  79. ncbi request reprint Roles of FGF receptors in mammalian development and congenital diseases
    Xavier Coumoul
    Genetics of Development and Disease Branch, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Birth Defects Res C Embryo Today 69:286-304. 2003
    ..In this review, we will discuss recent progress on the roles of FGF receptors in mammalian development and congenital diseases, with an emphasis on signal transduction pathways...
  80. ncbi request reprint Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1
    N Lijam
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Cell 90:895-905. 1997
    ..These results are consistent with an interpretation that common genetic mechanisms underlie abnormal social behavior and sensorimotor gating deficits and implicate Dvl1 in processes underlying complex behaviors...
  81. ncbi request reprint Cerebellar deficits and hyperactivity in mice lacking Smad4
    Yong Xing Zhou
    Mammalian Genetics Section, National Institute of Diabetes and Digestive and Kidney Diseases NIH, Bethesda, MD 20892, USA
    J Biol Chem 278:42313-20. 2003
    ..Accompanied by the abnormality in the cerebellum, mutant mice also exhibited significantly increased vertical activity. Thus, our study reveals an unexpected role for Smad4 in cerebellar development and in the control of motor function...
  82. ncbi request reprint Generation of Smad4/Dpc4 conditional knockout mice
    Xiao Yang
    Genetics of Development and Disease Branch, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genesis 32:80-1. 2002
  83. ncbi request reprint Squamous cell carcinoma and mammary abscess formation through squamous metaplasia in Smad4/Dpc4 conditional knockout mice
    Wenmei Li
    Genetics of Development and Disease Branch, NIDDK, NIH, 10 9N105, 10 Center Drive, Bethesda, MD 20892, USA
    Development 130:6143-53. 2003
    ..However, such actions were blocked in the absence of Smad4. These findings indicate that TGFbeta/Smad4 signals play a role in cell fate maintenance during mammary gland development and neoplasia...
  84. pmc Ubiquitin ligase Smurf1 controls osteoblast activity and bone homeostasis by targeting MEKK2 for degradation
    Motozo Yamashita
    Laboratory of Cellular and Molecular Biology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA
    Cell 121:101-13. 2005
    ..These results indicate that Smurf1 negatively regulates osteoblast activity and response to BMP through controlling MEKK2 degradation...
  85. pmc Inactivation of Stat5 in mouse mammary epithelium during pregnancy reveals distinct functions in cell proliferation, survival, and differentiation
    Yongzhi Cui
    Laboratory of Genetics and Physiology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 0822, USA
    Mol Cell Biol 24:8037-47. 2004
    ....
  86. ncbi request reprint Generation of Fgfr1 conditional knockout mice
    Xiaoling Xu
    Genetics of Development and Disease Branch, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genesis 32:85-6. 2002
  87. ncbi request reprint Smad3 in the mammary epithelium has a nonredundant role in the induction of apoptosis, but not in the regulation of proliferation or differentiation by transforming growth factor-beta
    Yu An Yang
    Laboratory of Cell Regulation and Carcinogenesis, National Cancer Institute, NIH, Bethesda, Maryland 20892 5055, USA
    Cell Growth Differ 13:123-30. 2002
    ..The results suggest that epithelial Smad3 is dispensable for TGF-beta effects on proliferation and differentiation in the mammary gland, but that it contributes in a nonredundant manner to the induction of apoptosis...
  88. pmc Induction of intrahepatic cholangiocellular carcinoma by liver-specific disruption of Smad4 and Pten in mice
    Xiaoling Xu
    Genetics of Development and Disease Branch, NIDDK, NIH, Bethesda, Maryland 20892, USA
    J Clin Invest 116:1843-52. 2006
    ..These findings elucidate the relationship between SMAD4 and PTEN and extend our understanding of CC formation...
  89. ncbi request reprint Identification of an integrated SV40 T/t-antigen cancer signature in aggressive human breast, prostate, and lung carcinomas with poor prognosis
    Kristin K Deeb
    Laboratory of Cell Regulation and Carcinogenesis, National Institutes of Diabetes, Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA
    Cancer Res 67:8065-80. 2007
    ....
  90. pmc Maternal disturbance in activated sphingolipid metabolism causes pregnancy loss in mice
    Kiyomi Mizugishi
    Genetics of Development and Disease Branch, NIDDK, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland, USA
    J Clin Invest 117:2993-3006. 2007
    ..Thus, sphingolipid metabolism regulates proper uterine decidualization and blood vessel stability. Our findings also suggest that disturbance in sphingolipid metabolism may be considered as a cause of pregnancy loss in humans...
  91. ncbi request reprint RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis
    Vivek Shukla
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, US National Institutes of Health, 10 Center Drive, Bethesda, Maryland 20892, USA
    Nat Genet 39:1145-50. 2007
    ....
  92. ncbi request reprint Muscarinic induction of hippocampal gamma oscillations requires coupling of the M1 receptor to two mixed cation currents
    André Fisahn
    Laboratory of Cellular and Synaptic Neurophysiology, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA
    Neuron 33:615-24. 2002
    ..Our data provide important insight into the molecular basis of gamma oscillations by unequivocally establishing a novel role for muscarinic modulation of I(h) and I(cat) in rhythmic network activity...
  93. ncbi request reprint A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression
    Rui Hong Wang
    Genetics of Development and Disease Branch, 10 9N105, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Cell Metab 2:399-409. 2005
    ..Our study uncovers a novel role of TGF-beta/SMAD4 in regulating hepcidin expression and thus intestinal iron transport and iron homeostasis...
  94. ncbi request reprint BRCA1 shifts p53-mediated cellular outcomes towards irreversible growth arrest
    Pat P Ongusaha
    Cancer Biology Program, Hematology Oncology Division, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02115, USA
    Oncogene 22:3749-58. 2003
    ..Taken together, our results provide evidence that BRCA1 is involved in p53-mediated growth suppression rather than apoptosis...
  95. ncbi request reprint The initiation and propagation of Hes7 oscillation are cooperatively regulated by Fgf and notch signaling in the somite segmentation clock
    Yasutaka Niwa
    Institute for Virus Research, Kyoto University, Kyoto 606 8507, Japan
    Dev Cell 13:298-304. 2007
    ..We thus propose that Hes7 oscillation is initiated by Fgf signaling and propagated/maintained anteriorly by Notch signaling...
  96. ncbi request reprint Tumor formation in mice with conditional inactivation of Brca1 in epithelial tissues
    Thomas R Berton
    Department of Carcinogenesis, University of Texas MD Anderson Cancer Center, Science Park Research Division, Smithville, TX 78957, USA
    Oncogene 22:5415-26. 2003
    ..Moreover, inactivation of Brca1 is shown to cooperate with deregulation of the Rb-E2F1 pathway to promote tumorigenesis...
  97. ncbi request reprint Silencing of unsynapsed meiotic chromosomes in the mouse
    James M A Turner
    Division of Stem Cell Research and Developmental Genetics, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
    Nat Genet 37:41-7. 2005
    ..These findings impact on the interpretation of the relationship between synaptic errors and sterility in mammals and extend our understanding of the biology of Brca1...
  98. ncbi request reprint BRCA1, histone H2AX phosphorylation, and male meiotic sex chromosome inactivation
    James M A Turner
    Division of Stem Cell Biology and Developmental Genetics, Medical Research Council, National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, United Kingdom
    Curr Biol 14:2135-42. 2004
    ..These observations highlight an important role for BRCA1 in recruiting the kinase ATR to XY chromatin at the onset of MSCI and provide compelling evidence that it is ATR that phosphorylates H2AX and triggers MSCI...