single stranded conformational polymorphism

Summary

Summary: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.

Top Publications

  1. ncbi Adult-onset primary open-angle glaucoma caused by mutations in optineurin
    Tayebeh Rezaie
    Molecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, CT 06030, USA
    Science 295:1077-9. 2002
  2. ncbi Identity and diversity of coral endosymbionts (zooxanthellae) from three Palauan reefs with contrasting bleaching, temperature and shading histories
    K E Fabricius
    Australian Institute of Marine Science, PMB No 3, Townsville MC, Qld 4810, Australia
    Mol Ecol 13:2445-58. 2004
  3. ncbi Identification of a gene that causes primary open angle glaucoma
    E M Stone
    Department of Ophthalmology, University of Iowa College of Medicine, Iowa City, IA 52242, USA
    Science 275:668-70. 1997
  4. pmc E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers
    G Berx
    Laboratory of Molecular Biology, University of Ghent, Belgium
    EMBO J 14:6107-15. 1995
  5. ncbi cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog
    S M Petersen-Jones
    The Centre for Veterinary Science, Department of Clinical Veterinary Medicine, University of Cambridge, United Kingdom
    Invest Ophthalmol Vis Sci 40:1637-44. 1999
  6. ncbi BRAF mutations in metastatic melanoma: a possible association with clinical outcome
    Rajiv Kumar
    Department of Biosciences, Karolinska Institute, Novum, 141 57 Huddinge, Sweden
    Clin Cancer Res 9:3362-8. 2003
  7. ncbi PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
    T Mochizuki
    Renal Division, Department of Medicine and Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Science 272:1339-42. 1996
  8. pmc p53 mutations in human cutaneous melanoma correlate with sun exposure but are not always involved in melanomagenesis
    S F Zerp
    Department of Clinical Oncology, University Hospital, Leiden, The Netherlands
    Br J Cancer 79:921-6. 1999
  9. ncbi Deletions of AXIN1, a component of the WNT/wingless pathway, in sporadic medulloblastomas
    R P Dahmen
    Department of Neuropathology, University of Bonn Medical Center, D-53105 Bonn, Germany
    Cancer Res 61:7039-43. 2001
  10. pmc Pancreatic tumours: molecular pathways implicated in ductal cancer are involved in ampullary but not in exocrine nonductal or endocrine tumorigenesis
    P S Moore
    Department of Pathology, , Italy
    Br J Cancer 84:253-62. 2001

Research Grants

  1. MOLECULAR BIOLOGY OF HUMAN ERYTHROCYTE ANKYRIN
    Patrick Gallagher; Fiscal Year: 2000
  2. THE GENETIC ETIOLOGY OF HYPOPLASTIC LEFT HEART SYNDROME
    Peter Bowers; Fiscal Year: 2004
  3. STRUCTURAL DETERMINANTS OF HCG FOLDING AND ASSEMBLY
    Elliott Bedows; Fiscal Year: 1999
  4. POSITIONAL CLONING OF THE WERNERS SYNDROME GENE
    Fuki Hisama; Fiscal Year: 1999
  5. DNA POLYMORPHISMS IN THE MYOSTATIN GENE IN SARCOPENIA
    Jeremy Walston; Fiscal Year: 1999
  6. GENETIC STUDY OF OPIOID ADDICTION
    Wade Berrettini; Fiscal Year: 2000
  7. SEARCH FOR NEW GENES CAUSING NON-SYNDROMIC DEAFNESS
    Xue Liu; Fiscal Year: 2002
  8. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2005
  9. Molecular Biology of Erythrocyte Ankyrin
    Patrick G Gallagher; Fiscal Year: 2010
  10. Molecular Epidemiology of Smoking & Breast Cancer
    KATHLEEN CONWAY DORSEY; Fiscal Year: 2005

Detail Information

Publications230 found, 100 shown here

  1. ncbi Adult-onset primary open-angle glaucoma caused by mutations in optineurin
    Tayebeh Rezaie
    Molecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, CT 06030, USA
    Science 295:1077-9. 2002
    ..Optineurin is expressed in trabecular meshwork, nonpigmented ciliary epithelium, retina, and brain, and we speculate that it plays a neuroprotective role...
  2. ncbi Identity and diversity of coral endosymbionts (zooxanthellae) from three Palauan reefs with contrasting bleaching, temperature and shading histories
    K E Fabricius
    Australian Institute of Marine Science, PMB No 3, Townsville MC, Qld 4810, Australia
    Mol Ecol 13:2445-58. 2004
    ..Future increases in seawater temperature might, therefore, result in an increasing prevalence of Symbiodinium phylotype D in scleractinian corals, possibly associated with a loss of diversity in both zooxanthellae and corals...
  3. ncbi Identification of a gene that causes primary open angle glaucoma
    E M Stone
    Department of Ophthalmology, University of Iowa College of Medicine, Iowa City, IA 52242, USA
    Science 275:668-70. 1997
    ..One of these mutations was also found in a control individual (0.2 percent). Identification of these mutations will aid in early diagnosis, which is essential for optimal application of existing therapies...
  4. pmc E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers
    G Berx
    Laboratory of Molecular Biology, University of Ghent, Belgium
    EMBO J 14:6107-15. 1995
    ..These findings offer a molecular explanation for the typical scattered tumour cell growth in infiltrative lobular breast cancer...
  5. ncbi cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog
    S M Petersen-Jones
    The Centre for Veterinary Science, Department of Clinical Veterinary Medicine, University of Cambridge, United Kingdom
    Invest Ophthalmol Vis Sci 40:1637-44. 1999
    ..To screen the alpha-subunit of cyclic guanosine monophosphate (cGMP) phosphodiesterase (PDE6A) as a potential candidate gene for progressive retinal atrophy (PRA) in the Cardigan Welsh corgi dog...
  6. ncbi BRAF mutations in metastatic melanoma: a possible association with clinical outcome
    Rajiv Kumar
    Department of Biosciences, Karolinska Institute, Novum, 141 57 Huddinge, Sweden
    Clin Cancer Res 9:3362-8. 2003
    ..Recently, activating mutations in the BRAF gene, were reported in a large proportion of melanomas. We have studied mutations in the BRAF gene and their association with clinical parameters...
  7. ncbi PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
    T Mochizuki
    Renal Division, Department of Medicine and Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Science 272:1339-42. 1996
    ..The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain...
  8. pmc p53 mutations in human cutaneous melanoma correlate with sun exposure but are not always involved in melanomagenesis
    S F Zerp
    Department of Clinical Oncology, University Hospital, Leiden, The Netherlands
    Br J Cancer 79:921-6. 1999
    ....
  9. ncbi Deletions of AXIN1, a component of the WNT/wingless pathway, in sporadic medulloblastomas
    R P Dahmen
    Department of Neuropathology, University of Bonn Medical Center, D-53105 Bonn, Germany
    Cancer Res 61:7039-43. 2001
    ..This indicates that AXIN1 may function as a tumor suppressor gene in MBs...
  10. pmc Pancreatic tumours: molecular pathways implicated in ductal cancer are involved in ampullary but not in exocrine nonductal or endocrine tumorigenesis
    P S Moore
    Department of Pathology, , Italy
    Br J Cancer 84:253-62. 2001
    ..These data suggest that pancreatic exocrine and endocrine tumourigenesis involves different genetic targets and that among exocrine pancreatic neoplasms, only ductal and ampullary cancers share common molecular events...
  11. pmc Transmission of a fatal clonal tumor by biting occurs due to depleted MHC diversity in a threatened carnivorous marsupial
    Hannah V Siddle
    Faculty of Veterinary Science, University of Sydney, Sydney, NSW 2006, Australia
    Proc Natl Acad Sci U S A 104:16221-6. 2007
    ..The neoplastic clone continues to spread although the population, and, without active disease control by removal of affected animals and the isolation of disease-free animals, the Tasmanian devil faces extinction...
  12. ncbi Homoeologous gene silencing in hexaploid wheat
    A Bottley
    Department of Crop Genetics, John Innes Centre, Norwich, NR4 7UH, UK
    Plant J 47:897-906. 2006
    ....
  13. ncbi BRAF and NRAS mutations are frequent in nodular melanoma but are not associated with tumor cell proliferation or patient survival
    Lars A Akslen
    The Gade Institute, Section of Pathology, University of Bergen, Haukeland University Hospital, Bergen, Norway
    J Invest Dermatol 125:312-7. 2005
    ..Although BRAF and NRAS mutations are likely to be important for the initiation and maintenance of some melanomas, other factors might be more significant for proliferation and prognosis in subgroups of aggressive melanoma...
  14. ncbi Flexibility in algal endosymbioses shapes growth in reef corals
    Angela F Little
    School of Marine Biology and Aquaculture, James Cook University JCU, Townsville 4811, Australia
    Science 304:1492-4. 2004
    ....
  15. pmc Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene
    F C Mansergh
    Wellcome Ocular Genetics Unit, Genetics Department, Trinity College Dublin, Dublin 2, Ireland
    Am J Hum Genet 64:971-85. 1999
    ..In summary, the data presented provide substantial evidence that the C12258A mtDNA mutation is causative of the disease phenotype in family ZMK...
  16. ncbi Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
    M Danciger
    Jules Stein Eye Institute, UCLA School of Medicine 90024 7008, USA
    Genomics 30:1-7. 1995
    ..Only the affecteds of each of the two families carried both corresponding mutations...
  17. ncbi AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1
    S Satoh
    Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
    Nat Genet 24:245-50. 2000
    ....
  18. ncbi Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC
    C Gallou
    INSERM U383, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 13:464-75. 1999
    ..05). Thus, mutations resulting in truncated proteins may lead to a higher risk of RCC in VHL patients...
  19. ncbi EGFR mutations in non-small-cell lung cancer: analysis of a large series of cases and development of a rapid and sensitive method for diagnostic screening with potential implications on pharmacologic treatment
    Antonio Marchetti
    Clinical Research Center, Center of Excellence on Aging, University Foundation, Chieti, Italy
    J Clin Oncol 23:857-65. 2005
    ..Moreover, all lung adenocarcinomas were analyzed for K-ras mutations at codon 12 by allele-specific oligoprobe hybriditations...
  20. ncbi A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
    M E Curran
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112
    Cell 80:795-803. 1995
    ..In one kindred, the mutation arose de novo. Northern blot analyses show that HERG is strongly expressed in the heart. These data indicate that HERG is LQT2 and suggest a likely cellular mechanism for torsade de pointes...
  21. ncbi Missense mutations in the PAX6 gene in aniridia
    N Azuma
    Department of Ophthalmology, National Children s Hospital, Tokyo, Japan
    Invest Ophthalmol Vis Sci 39:2524-8. 1998
    ..Only two missense mutations have been detected in aniridia pedigrees, each of which occurs in its paired domain or homeodomain. In this study, four novel missense mutations were found in three aniridia pedigrees...
  22. ncbi E-cadherin germline mutations in familial gastric cancer
    P Guilford
    Cancer Genetics Laboratory, Biochemistry Department, University of Otago, Dunedin, Aotearoa New Zealand
    Nature 392:402-5. 1998
    ..These results describe, to our knowledge for the first time, a molecular basis for familial gastric cancer, and confirm the important role of E-cadherin mutations in cancer...
  23. ncbi Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2
    Nadia Kaiserman
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    Arch Ophthalmol 125:219-24. 2007
    ..To identify USH2A mutations in Israeli patients with autosomal-recessive Usher syndrome type 2 (USH2) and retinitis pigmentosa (RP)...
  24. pmc X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase
    J Rae
    Department of Immunology, Genetech, Inc, South San Francisco, CA, USA
    Am J Hum Genet 62:1320-31. 1998
    ..The heterogeneity of mutations and the lack of any predominant genotype indicate that the disease represents many different mutational events, without a founder effect, as is expected for a disorder with a previously lethal phenotype...
  25. pmc Genes duplicated by polyploidy show unequal contributions to the transcriptome and organ-specific reciprocal silencing
    Keith L Adams
    Department of Botany, Iowa State University, Ames, IA 50011, USA
    Proc Natl Acad Sci U S A 100:4649-54. 2003
    ..Both long-term and immediate responses to polyploidization were implicated. Data suggest that some silencing events are epigenetically induced during the allopolyploidization process...
  26. ncbi Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma
    Arijit Mukhopadhyay
    Human Genetics and Genomics Division, Indian Institute of Chemical Biology, Kolkata, India
    Mol Vis 11:792-7. 2005
    ..To evaluate the role of the optineurin gene (OPTN) in Indian primary open angle glaucoma (POAG) patients from different parts of the country...
  27. ncbi Intron variation in marbled murrelets detected using analyses of single-stranded conformational polymorphisms
    V L Friesen
    Department of Biology, Queen s University, Kingston, Ontario, Canada
    Mol Ecol 6:1047-58. 1997
    ....
  28. pmc Investigation of crystallin genes in familial cataract, and report of two disease associated mutations
    K P Burdon
    Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia
    Br J Ophthalmol 88:79-83. 2004
    ..Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia...
  29. ncbi Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture
    Edwin M Stone
    Department of Ophthalmology, The University of Iowa College of Medicine, Carver Family Center for Macular Degeneration, Iowa City, IA 52242, USA
    Am J Ophthalmol 144:791-811. 2007
    ....
  30. ncbi Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome
    S C Cha
    Department of Ophthalmology, College of Medicine, Yeungnam University, Daegu, Republic of Korea
    Clin Genet 64:485-90. 2003
    ..These results suggest that in a fraction of BPES patients, the genetic defect might be associated with a mutation in the non-coding region of the FOXL2 gene or in other genes...
  31. ncbi Geographic and habitat partitioning of genetically distinct zooxanthellae (Symbiodinium) in Acropora corals on the Great Barrier Reef
    K E Ulstrup
    Department of Phycology, Botanical Institute, University of Copenhagen, Copenhagen, Denmark
    Mol Ecol 12:3477-84. 2003
    ..tenuis and A. valida and at some reef locations, which we interpret as acclimation to local environmental conditions...
  32. ncbi [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]
    Rafael Laredo
    Servicio de Cardiologia, Complejo Hospitalario Universitario Juan Canalejo e Instituto Universitario de Ciencias de la Salud de la Universidad de A Coruña, A Coruna, Spain
    Rev Esp Cardiol 59:1008-18. 2006
    ..To determine the frequency of mutations in the beta-myosin heavy-chain gene (MYH7) in a cohort of patients with hypertrophic cardiomyopathy (HCM) and their families, and to investigate correlations between genotype and phenotype...
  33. pmc KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death
    S Chen
    Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, The Cleveland Clinic Foundation, OH 44195, USA
    Clin Genet 63:273-82. 2003
    ....
  34. pmc Hypermethylation of the promoter region of the E-cadherin gene (CDH1) in sporadic and ulcerative colitis associated colorectal cancer
    J M Wheeler
    Cancer and Immunogenetics Laboratory, Imperial Cancer Research Fund, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Gut 48:367-71. 2001
    ..Hypermethylation of the E-cadherin gene (CDH1) has not been described previously in colorectal cancer...
  35. ncbi Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency
    Paal S Andersen
    Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark
    Eur J Hum Genet 12:673-7. 2004
    ....
  36. ncbi ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa
    Takehiro Fukui
    Department of Ophthalmology, Osaka University Graduate School of Medicine, Osaka, Japan
    Invest Ophthalmol Vis Sci 43:2819-24. 2002
    ..To evaluate photoreceptor cell-specific adenosine triphosphate (ATP)-binding cassette transporter (ABCA4) gene mutations in Japanese patients with Stargardt disease (STGD) and the correlation of these mutations to clinical phenotypes...
  37. pmc Preponderance of the oncogenic V599E and V599K mutations in B-raf kinase domain is enhanced in melanoma cutaneous/subcutaneous metastases
    Martin Deichmann
    Department of Dermatology, Heidelberg University Clinics, Vossbstrasse 2, 69115 Heidelberg, Germany
    BMC Cancer 5:58. 2005
    ....
  38. ncbi Comparing EST-based genetic maps between Pinus sylvestris and Pinus taeda
    P Komulainen
    Department of Biology, University of Oulu, FIN 90014 University of Oulu, Finland
    Theor Appl Genet 107:667-78. 2003
    ..These data provide a first ESTP-containing map of P. sylvestris, which can also be used for comparing this species to additional species mapped with the same markers...
  39. ncbi Novel somatic mutations in the VHL gene in Swedish archived sporadic renal cell carcinomas
    K Yang
    CNT, Department of Biosciences at Novum, Karolinska Institute, Huddinge, Sweden
    Cancer Lett 141:1-8. 1999
    ..The mutations were found in three types of non-papillary RCC cases, i.e. 14 clear cells, one granular chromophilic and one sarcomatoid RCC. Interesting multiple mutations were found in three cases (5, 3, 2 mutations, respectively)...
  40. ncbi BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history
    K E Malone
    Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Wash 98109 1024, USA
    JAMA 279:922-9. 1998
    ..Thus, studies of women from the general population are needed to determine the BRCA1 mutation frequency in women perceived to be at high risk, and to develop profiles of those most likely to be carriers...
  41. ncbi Inactivation of the E-cadherin gene in primary gastric carcinomas and gastric carcinoma cell lines
    G Tamura
    Department of Pathology, Iwate Medical University School of Medicine, Uchimaru, Morioka
    Jpn J Cancer Res 87:1153-9. 1996
    ..These data provide support for classic two-hit inactivation of the E-cadherin gene in a high percentage of undifferentiated carcinomas of the scattered type...
  42. ncbi Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness
    K C Sippel
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, USA
    Invest Ophthalmol Vis Sci 39:665-70. 1998
    ....
  43. pmc Analysis of histological therapeutic effect, apoptosis rate and p53 status after combined treatment with radiation, hyperthermia and 5-fluorouracil suppositories for advanced rectal cancers
    C Sakakura
    First Department of Surgery, Kyoto Prefectural University of Medicine, Japan
    Br J Cancer 77:159-66. 1998
    ....
  44. ncbi A simple, precise and economical microdissection technique for analysis of genomic DNA from archival tissue sections
    J Y Lee
    Department of Pathology and Cancer Research Institute, Catholic University Medical College, Seoul, Korea
    Virchows Arch 433:305-9. 1998
    ..The main advantages of this technique over the current methods lie in its simplicity, low cost, easy handling and precision...
  45. pmc Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene
    D A Stephan
    Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 96:1008-12. 1999
    ..This is the first gene defect shown to be responsible for a noncongenital progressive cataract, and studying the defective protein should teach us more about the mechanisms underlying cataract formation...
  46. pmc Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer
    B Gorski
    Department of Genetics and Pathology, Hereditary Cancer Center, 70 115 Szczecin, Poland
    Am J Hum Genet 66:1963-8. 2000
    ..In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities-5382insC, C61G, and 4153delA-accounted for 51%, 20%, and 11% of the identified mutations, respectively...
  47. ncbi Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed
    A Ladopoulou
    Molecular Diagnostics Laboratory, I R RP, National Center for Scientific Research Demokritos, Ag Paraskevi Attikis, 15310, Athens, Greece
    Cancer Lett 185:61-70. 2002
    ..Combined with our previously published data 5382insC was found in nine out of 20 families (45%), suggesting that this mutation may represent a common founder mutation in the Greek population...
  48. ncbi p53, deleted in colorectal cancer gene, and thymidylate synthase as predictors of histopathologic response and survival in low, locally advanced rectal cancer treated with preoperative adjuvant therapy
    Robyn P M Saw
    Department of Surgery, Royal Prince Alfred Hospital, Sydney, Australia
    Dis Colon Rectum 46:192-202. 2003
    ....
  49. ncbi Thirteen novel mutations of the replicated region of PKD1 in an Asian population
    B Phakdeekitcharoen
    Division of Nephrology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Kidney Int 58:1400-12. 2000
    ..To date, few mutations that affect the replicated segment of PKD1 have been described, and virtually all have been reported in Caucasian patients...
  50. ncbi VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation
    H Brauch
    Dr Margarete Fischer Bosch Institute of Clinical Pharmacology, Stuttgart, Germany
    Cancer Res 60:1942-8. 2000
    ..009). This is the first evidence of frequent somatic VHL mutations at a particular site within exon 2 and an association of VHL mutations/hypermethylations with a standard prognostic factor...
  51. ncbi Abnormalities of tumor suppressor gene p16 in pancreatic carcinoma: immunohistochemical and genetic findings compared with clinicopathological parameters
    Koushiro Ohtsubo
    Department of Internal Medicine and Medical Oncology, Cancer Research Institute, Kanazawa University, 13 1 Takaramachi, Kanazawa 920 8641, Japan
    J Gastroenterol 38:663-71. 2003
    ....
  52. ncbi Major histocompatibility complex variation in the Arabian oryx
    P W Hedrick
    Department of Biology, Arizona State University, Tempe 95287, USA
    Evolution 54:2145-51. 2000
    ..As a result, maintenance of these variants should be considered as a goal in the captive breeding program of the Arabian oryx...
  53. ncbi Genotypic variation in ATP-binding cassette transporter-1 (ABCA1) as contributors to the high and low high-density lipoprotein-cholesterol (HDL-C) phenotype
    Myrna Mantaring
    Department of Medicine, University of Maryland Medical Center and VA Maryland Health Care System, Baltimore, MD, USA
    Transl Res 149:205-10. 2007
    ..0002, respectively) compared with lower HDL-C. These data reaffirm that rare mutations in ABCA1 are associated with low HDL-C. However, at least 1 ABCA1 polymorphism (eg, E1172D) may contribute to the high HDL-C phenotype...
  54. ncbi Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations
    Gayle J T Pauer
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Ophthalmic Genet 26:157-61. 2005
    ..We identified five polymorphisms in the 5' untranslated region, four missense changes, six isocoding variants and four intronic changes. None of the sequence variants were interpreted as pathogenic...
  55. pmc Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors
    J M Varley
    Cancer Research Campaign, Section of Molecular Genetics, Paterson Institute for Cancer Research, Manchester, United Kingdom
    Am J Hum Genet 65:995-1006. 1999
    ..Our findings have considerable implications for the clinical management of children with andrenocortical tumors and their parents, in terms of both genetic testing and the early detection and treatment of tumors...
  56. ncbi Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome
    L Heidet
    INSERM U423, Universite Rene Descartes, Hopital Necker Enfants Malades, Paris, France
    J Am Soc Nephrol 12:97-106. 2001
    ..Furthermore, it is shown that heterozygous COL4A3 missense mutations, when symptomatic, can be associated with a broad range of phenotypes, from familial benign hematuria to the complete features of Alport syndrome nephropathy...
  57. ncbi Class II multiformity generated by variable MHC- DRB region configurations in the California sea lion ( Zalophus californianus)
    Lizabeth Bowen
    Laboratory for Marine Mammal Immunology, School of Veterinary Medicine, Department of Pathology, Microbiology and Immunology, University of California, Davis, CA 95616, USA
    Immunogenetics 56:12-27. 2004
    ....
  58. pmc PAX6 gene variations associated with aniridia in south India
    Guruswamy Neethirajan
    Department of Genetics, Aravind Medical Research Foundation, Madurai, India
    BMC Med Genet 5:9. 2004
    ..Mutations in the transcription factor gene PAX6 have been shown to be the cause of the aniridia phenotype. The purpose of this study was to analyze patients with aniridia to uncover PAX6 gene mutations in south Indian population...
  59. pmc Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer
    Annika Rökman
    Laboratory of Cancer Genetics, Institute of Medical Technology, Temepere University, and Tempere University Hospital, Tempere, Finland
    Am J Hum Genet 70:1299-304. 2002
    ..This suggests a possible modifying role in cancer predisposition. The impact that the RNASEL sequence variants have on PRCA burden at the population level seems small but deserves further study...
  60. ncbi Novel ABCA1 compound variant associated with HDL cholesterol deficiency
    Seung Ho Hong
    Department of Medicine, University of Maryland and Veterans Administration Medical Center, 22 S Greene St, S3B06 Baltimore 21201, USA
    Biochim Biophys Acta 1587:60-4. 2002
    ..Direct sequencing of all coding regions and splice site junctions of other HDL candidate genes revealed no additional mutations, indicating that combined defective ABCA1 alleles may result in familial HDL deficiency...
  61. pmc Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene
    Andrea L Vincent
    Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Canada
    Am J Hum Genet 70:448-60. 2002
    ..We also propose that CYP1B1 may act as a modifier of MYOC expression and that these two genes may interact through a common pathway...
  62. ncbi VSX1: a gene for posterior polymorphous dystrophy and keratoconus
    Elise Heon
    Cellular and Molecular Division, Toronto Western Research Institute, Toronto Western Hospital, 399 Bathurst Street, Toronto, Ontario, Canada M5T 2S8
    Hum Mol Genet 11:1029-36. 2002
    ..These data define the molecular basis of two important corneal dystrophies and reveal the importance of the CVC domain in the human retina...
  63. ncbi Variable number of tandem repeat of the 5'-flanking region of type-C human natriuretic peptide receptor gene influences blood pressure levels in obesity-associated hypertension
    Noriko Aoi
    Division of Kidney and Endocrinology, Department of Medicine, Nihon University School of Medicine, Tokyo, Japan
    Hypertens Res 27:711-6. 2004
    ..This suggests that the VNTR of the 5'-flanking region of the NPRC gene influences blood pressure levels in obesity-associated hypertension...
  64. ncbi Ectopia lentis phenotypes and the FBN1 gene
    Lesley C Ades
    Marfan Research Group, The Children s Hospital at Westmead, Westmead, New South Wales, Australia
    Am J Med Genet A 126:284-9. 2004
    ..It also raises the possibility that R240C may prove to be a relative mutational "hot-spot" for isolated EL. We review the current literature regarding EL (isolated and other) and FBN1 mutations...
  65. ncbi Recent duplication and inter-locus gene conversion in major histocompatibility class II genes in a teleost, the three-spined stickleback
    Thorsten B H Reusch
    Max Planck Institut für Limnologie, August Thienemann Strasse 2, 24306 Plön, Germany
    Immunogenetics 56:427-37. 2004
    ..007). In accordance, we found a 10- to 20-fold higher frequency of CpG-islands on the MH class II segment compared to other species, a feature that may be conducive for inter-locus recombination...
  66. ncbi Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease
    H S Eo
    Department of Internal Medicine, College of Medicine, Seoul National University, Seoul, Korea
    Clin Genet 62:169-74. 2002
    ..Our findings indicate that many different PKD1 mutations are likely to be responsible for ADPKD in the Korean population, as in the Western population...
  67. ncbi VHL gene alterations in renal cell carcinoma patients: novel hotspot or founder mutations and linkage disequilibrium
    X Ma
    Department of Biosciences at Novum, Karolinska Institute, 141 57 Huddinge, Sweden
    Oncogene 20:5393-400. 2001
    ..A higher multiple mutation detected rate (33%) was observed in grade 3 CCRCCs than those in grade 1 (22%) and grade 2 (9%) (P=0.04). This is evidence on the association between VHL mutation and extent of nuclear atypia...
  68. ncbi Identification of a new GLC1A mutation in a sporadic, primary open-angle glaucoma in Japan
    Takayuki Ikezoe
    Department of Internal Medicine, Kochi Medical School, Okohcho, Nankoku, Kochi 783 8505, Japan
    Int J Mol Med 12:259-61. 2003
    ..No other mutations of the GLC1A gene were found in other types of glaucoma. These findings further emphasize the importance of GLC1A mutation in the development of POAG...
  69. ncbi Analysis of G(1)/S checkpoint regulators in metastatic melanoma
    I Sauroja
    Department of Dermatology, University of Turku, Finland
    Genes Chromosomes Cancer 28:404-14. 2000
    ..We conclude, that although none of the analyzed cell cycle regulators could be singled out as a major prognostic factor, G(1)/S checkpoint abnormalities remain one of the most significant factors in the development of malignant melanoma...
  70. ncbi Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients
    La ongsri Atchaneeyasakul
    Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Prannok Road, Bangkok Noi, Bangkok 10700, Thailand
    Ophthalmic Genet 27:21-7. 2006
    ..To describe the ophthalmic findings and mutation analyses of the PAX6 gene in Thai aniridia patients...
  71. ncbi Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer
    F M Richards
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, The Medical School, Birmingham B15 2TT, UK
    Hum Mol Genet 8:607-10. 1999
    ..Thus, CDH1 should be investigated as a cause of inherited susceptibility to both gastric and colorectal cancers...
  72. ncbi Frequent mutations in the neurotrophic tyrosine receptor kinase gene family in large cell neuroendocrine carcinoma of the lung
    Antonio Marchetti
    Clinical Research Center, Center of Excellence on Aging, University Foundation, Chieti, Italy
    Hum Mutat 29:609-16. 2008
    ..Such mutational events could represent an important step in the cancerogenesis of these tumors and may have potential implications for the selection of patients for targeted therapy...
  73. ncbi Absence of ST7 mutations in tumor-derived cell lines and tumors
    K A Hughes
    The Cancer Research Campaign Laboratories, Beatson Institute for Cancer Research, Switchback Road, Bearsden, Glasgow, G61 1BD, UK
    Nat Genet 29:380-1. 2001
    ..The gene ST7 has been proposed as the multi-tissue tumor-suppressor gene (TSG) at chromosome 7q31.1. However, we have sought and failed to detect the truncating mutations reported to exist in this gene...
  74. ncbi Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays
    O Ainoon
    Department of Pathology, Faculty of Medicine, National University of Malaysia, Kuala Lumpur, Malaysia
    Hum Mutat 21:101. 2003
    ..Our findings together with other preliminary data on the presence of the Mediterranean variant in this region provide evidence of strong Arab influence in the Malay Archipelago...
  75. ncbi Genetic diversity and relationships among Venezuelan equine encephalitis virus field isolates from Colombia and Venezuela
    A C Moncayo
    Center for Tropical Disease and Department of Pathology, University of Texas Medical Branch, Galveston 77555-0609, USA
    Am J Trop Med Hyg 65:738-46. 2001
    ..The SSCP analysis appears to be a simple, fast, and relatively efficient method of screening VEE virus isolates to identify meaningful genetic variants...
  76. pmc Overexpression of platelet-derived growth factor receptor alpha in breast cancer is associated with tumour progression
    Inês Carvalho
    IPATIMUP Institute of Molecular Pathology and Immunology of Porto University, Porto, Portugal
    Breast Cancer Res 7:R788-95. 2005
    ....
  77. pmc Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions
    J Korkko
    Center for Gene Therapy and Department of Medicine, Tulane University Health Sciences Center, New Orleans, LA, USA
    J Med Genet 39:34-41. 2002
    ..The objective of this study was to test the sensitivity of conformation sensitive gel electrophoresis (CSGE) for detecting mutations in FBN1 in MFS and related phenotypes...
  78. ncbi Structure and polymorphisms of the human natriuretic peptide receptor C gene
    Dolkun Rahmutula
    Second Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan
    Endocrine 17:85-90. 2002
    ..We have determined the structural organization and identified polymorphic sites in the human NPRC gene. The results of this study will facilitate further genetic analyses of the human NPRC gene function...
  79. ncbi Duplication, balancing selection and trans-species evolution explain the high levels of polymorphism of the DQA MHC class II gene in voles (Arvicolinae)
    J Bryja
    Centre de Biologie et Gestion des Populations UMR 22, INRA, Campus International de Baillarguet, CS 30016, 34988 Montferrier sur Lez, Cedex, France
    Immunogenetics 58:191-202. 2006
    ..We discuss possible role of parasites in forming the recent polymorphism pattern of the DQA locus in voles...
  80. ncbi MHC diversity and the association to nematode parasitism in the yellow-necked mouse (Apodemus flavicollis)
    Y Meyer-Lucht
    Department Animal Ecology and Conservation, Biozentrum Grindel, University of Hamburg, Martin Luther King Platz 3, D 20146 Hamburg, Germany
    Mol Ecol 14:2233-43. 2005
    ..In contrast, the allele Apfl-DRB*23 showed a significant association to low FEC of the most common nematode. Thus, our results provide evidence for pathogen-driven selection acting through rare allele advantage under natural conditions...
  81. ncbi Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma
    C Gallou
    INSERM U383, , Paris, France
    Pharmacogenetics 11:521-35. 2001
    ..40) and 4% of the other mutations (P = 0.01). This suggests that pharmacogenetic polymorphisms may be associated with the type of acquired VHL mutation, which may modulate CCRCC development...
  82. ncbi Molecular genetics of primary congenital glaucoma in Brazil
    Ivaylo R Stoilov
    Molecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, Connecticut CT 06030 1110, USA
    Invest Ophthalmol Vis Sci 43:1820-7. 2002
    ..To determine the distribution of CYP1B1 gene mutations in Brazilian patients with primary congenital glaucoma (PCG)...
  83. ncbi Inhibitors in the NFkappaB cascade comprise prime candidate genes predisposing to multiple sclerosis, especially in selected combinations
    B Miterski
    Department of Molecular Human Genetics, Ruhr University, 44780 Bochum, Germany
    Genes Immun 3:211-9. 2002
    ..0001). A protecting allele was found in the NFKBIA promotor for the patients with primary progressive MS (15.4% vs 28.4% in the control group, P < 0.01). Given predisposing alleles increase MS risk dramatically in certain combinations...
  84. ncbi Activating BRAF and N-Ras mutations in sporadic primary melanomas: an inverse association with allelic loss on chromosome 9
    Rajiv Kumar
    Division of Molecular Genetic Epidemiology, German Cancer Research Center DKFZ, Im Neuenheimer Feld 580, Heidelberg 69210, Germany
    Oncogene 22:9217-24. 2003
    ..38+/-7.24 vs 65.77+/-19.79 years; t-test, P=0.02). Our data suggest that the occurrence of BRAF/N-ras mutations compensate the requirement for the allelic loss at chromosome 9, which is one of the key events in melanoma...
  85. ncbi [A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia]
    Yang Kang
    Department of Ophthalmology, The Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, 150086 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:172-5. 2008
    ..To identify the mutation of the PAX6 gene in a northeastern Chinese family with aniridia...
  86. ncbi Dynamic expression profile of p21WAF1/CIP1 and Ki-67 predicts survival in rectal carcinoma treated with preoperative radiochemotherapy
    Beate Rau
    Charite Medical School, Campus Berlin Buch, Humboldt University, Department of Surgery and Surgical Oncology, Robert Roessle Klinik, Lindenberger Weg 80, 13125 Berlin, Germany
    J Clin Oncol 21:3391-401. 2003
    ..The focus of this study was on the dynamics of these genetic markers in a longitudinal study-that is, before and after radiochemotherapy...
  87. pmc Rapid differentiation of phenotypically similar yeast species by single-strand conformation polymorphism analysis of ribosomal DNA
    Qi Ming Wang
    Systematic Mycology and Lichenology Laboratory, Institute of Microbiology, Chinese Academy of Sciences, Datun Road, Chaoyang District, Beijing 100101, China
    Appl Environ Microbiol 74:2604-11. 2008
    ....
  88. ncbi Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review
    Ansgar Gerhardus
    Department of Epidemiology and International Public Health, University of Bielefeld, D 33501 Bielefeld, Germany
    Eur J Hum Genet 15:619-27. 2007
    ..SSCP, MNT, PTT, CSGE, and TDGS cannot be recommended because of their low sensitivity. DHPLC outperforms all other methods studied. However, none of the four studies evaluating DHPLC was performed on BRCA2...
  89. ncbi The canine Recoverin (RCV1) gene: a candidate gene for generalized progressive retinal atrophy
    Gabriele Dekomien
    Molecular Human Genetics, Ruhr University, 44780 Bochum, Germany
    Mol Vis 8:436-41. 2002
    ..We describe the cloning, sequence, and mutation analysis of the canine Recoverin (RCV1) gene, a candidate gene for generalized progressive retinal atrophy (PRA)...
  90. ncbi Screening of N-ras codon 61 mutations in paired primary and metastatic cutaneous melanomas: mutations occur early and persist throughout tumor progression
    Katarina Omholt
    Cancer Centre Karolinska, Department of Oncology Pathology, Radiumhemmet, Karolinska Hospital and Institute, Stockholm, Sweden
    Clin Cancer Res 8:3468-74. 2002
    ..This study was aimed to measure the frequency of such mutations in a large series of paired primary and metastatic melanomas to determine their role in melanoma initiation and progression...
  91. ncbi The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Invest Ophthalmol Vis Sci 48:530-3. 2007
    ..The purpose of this study was to detect the 208delG mutation in Chinese individuals, with or without hereditary retinal degeneration...
  92. ncbi Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
    Wallace L M Alward
    Department of Ophthalmology, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
    Am J Ophthalmol 136:904-10. 2003
    ..To investigate the association of sequence variations in the optineurin (OPTN) gene in patients with open-angle glaucoma...
  93. ncbi IS900-PCR-based detection and characterization of Mycobacterium avium subsp. paratuberculosis from buffy coat of cattle and sheep
    Mangesh Bhide
    Laboratory of Biomedical Microbiology and Immunology, University of Veterinary Medicine, Komenskeho 73, Kosice, Slovakia
    Vet Microbiol 112:33-41. 2006
    ..Our work not only supports its use in animals but also suggests further IS900-SSCP-based MAP-genotyping, coupled with DNA sequencing, as a promising tool for rapid and effective Johne's disease surveillance...
  94. ncbi Geographical variations in TP53 mutational spectrum in ovarian carcinomas
    A Dansonka-Mieszkowska
    Department of Molecular Pathology, The Maria Sklodowska Curie Memorial Cancer Center and Institute of Oncology, Roentgena 5, 02 781 Warsaw, Poland
    Ann Hum Genet 70:594-604. 2006
    ..002), while tumours from the UK shared the 273(CYS) codon (80%, p < 0.001). Further analysis of TP53 gene mutations in ovarian cancer by geography could provide greater insights...
  95. ncbi KIT activation in uterine cervix adenosquamous carcinomas by KIT/SCF autocrine/paracrine stimulation loops
    Olga Martinho
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Campus de Gualtar, 4710 057 Braga, Portugal
    Gynecol Oncol 111:350-5. 2008
    ..In the present study, we intended to molecularly characterize KIT in ASC...
  96. ncbi PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
    A Malandrini
    Institute of Neurological Sciences, Medical Research Council, Western General Hospital, Edinburgh, UK
    Clin Genet 60:151-4. 2001
    ..We suggest that this missense mutation is responsible both for aniridia and ptosis, and possibly also for the observed cognitive dysfunction in this family...
  97. ncbi A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy
    Natik Piri
    Department of Ophthalmology, Jules Stein Eye Institute, UCLA, Los Angeles, California 90095, USA
    Ophthalmology 112:159-66. 2005
    ..To identify genes responsible for cone dystrophies and determine the functional consequences of their underlying mutations...
  98. ncbi Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma
    M Markandaya
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
    Ophthalmic Genet 25:11-23. 2004
    ..The purpose of the present study was to identify the genetic cause of glaucoma in a four-generation Indian family affected with J-POAG...
  99. ncbi Phylogeography recapitulates topography: very fine-scale local endemism of a saproxylic 'giant' springtail at Tallaganda in the Great Dividing Range of south-east Australia
    R C Garrick
    Department of Genetics and Evolution, Biological Sciences Building 1, La Trobe University, Plenty Road, Bundoora, VIC 3806, Australia
    Mol Ecol 13:3329-44. 2004
    ..5-7 million years before present, Mybp), early Pleistocene wet-dry oscillations (c. 1.2 Mybp) and the more recent glacial-interglacial cycles that have characterized the latter part of the Quaternary (<0.4 Mybp)...
  100. ncbi Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG
    H Yoshida
    Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin Kawara 54, Sakyo, Kyoto, 606 8507, Japan
    Am J Med Genet 98:348-52. 2001
    ..Taken together, this mutant may cause subtle changes in HERG channel functions (I(Kr)) in vivo. In this case, genetic background and unexpected bradycardia may have contributed to the development of long QT syndrome...
  101. ncbi SSCP is not so difficult: the application and utility of single-stranded conformation polymorphism in evolutionary biology and molecular ecology
    P Sunnucks
    Department of Biological Sciences, Macquarie University, NSW 2109, Australia
    Mol Ecol 9:1699-710. 2000
    ..We hope to help redress this by illustrating the application of a single simple SSCP protocol to mitochondrial genes, nuclear introns, microsatellites, and anonymous nuclear sequences, in a range of vertebrates and invertebrates...

Research Grants62

  1. MOLECULAR BIOLOGY OF HUMAN ERYTHROCYTE ANKYRIN
    Patrick Gallagher; Fiscal Year: 2000
    ..DNA from individuals with ankyrin- related HS using two PCR-based mutation detection methods, single stranded conformational polymorphism analysis, and enzyme mismatch cleavage, followed by nucleotide sequence of PCR-amplified DNA; ..
  2. THE GENETIC ETIOLOGY OF HYPOPLASTIC LEFT HEART SYNDROME
    Peter Bowers; Fiscal Year: 2004
    ..This award provides all of the essential components to develop my career and will maximize my academic potential. ..
  3. STRUCTURAL DETERMINANTS OF HCG FOLDING AND ASSEMBLY
    Elliott Bedows; Fiscal Year: 1999
    ..Thus, what we learn about protein folding in our system may be applicable to our understanding of a number of disease processes. ..
  4. POSITIONAL CLONING OF THE WERNERS SYNDROME GENE
    Fuki Hisama; Fiscal Year: 1999
    ..powerful methods such as cDNA selection for the identification of expressed sequences, and single stranded conformational polymorphism analysis for mutation detection...
  5. DNA POLYMORPHISMS IN THE MYOSTATIN GENE IN SARCOPENIA
    Jeremy Walston; Fiscal Year: 1999
    ..We will use single stranded conformational polymorphism analysis (SSCP) to screen-coding and regulatory regions of the gene and sequence any ..
  6. GENETIC STUDY OF OPIOID ADDICTION
    Wade Berrettini; Fiscal Year: 2000
    ..Genes for dopamine neurotransmission will also be studied, because independent lines of evidence suggest that dopamine neurotransmission in the mesocorticolimbic pathway is important in the rewarding aspects of opioid drugs. ..
  7. SEARCH FOR NEW GENES CAUSING NON-SYNDROMIC DEAFNESS
    Xue Liu; Fiscal Year: 2002
    ..This knowledge is an essential prerequisite to the development and provision of molecular diagnostic services for families with NSHL, as well as the further delineation of the functional genomics of the cochlea. ..
  8. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2005
    ..The long-term goals of this project are to elucidate the mechanisms by which RPE65 defects contribute to retinal degeneration, and to lay the groundwork for the development of therapeutic approaches to the disease. ..
  9. Molecular Biology of Erythrocyte Ankyrin
    Patrick G Gallagher; Fiscal Year: 2010
    ..These studies may provide important information to be used for diagnosis and treatment of patients with this disorder. ..
  10. Molecular Epidemiology of Smoking & Breast Cancer
    KATHLEEN CONWAY DORSEY; Fiscal Year: 2005
    ..If breast cancer can be attributed, in part, to cigarette smoking, then smoking prevention or cessation should reduce exposure and thus decrease the incidence of breast cancer. ..
  11. Examination of FLT3 Mutations in Acute Myeloid Leukemia
    Derek Stirewalt; Fiscal Year: 2006
    ..Together, the research proposal and educational program provide Dc Stirewalt with the skills to become an independent clinical investigator. ..
  12. The Cytoskeleton in HAART-Induced Cardiomyopathy
    David Nelson; Fiscal Year: 2006
    ..Specific Aim 2: Characterization of the cytoskeleton in HAART-treated transgenic mice. Specific Aim 3: Role of extrinsic stimuli in the development of HAART-induced cardiomyopathy. ..
  13. Role of CD166/ALCAM in Lung Endothelial Barrier Function
    Solomon Ofori Acquah; Fiscal Year: 2007
    ..If true, then pharmacological agents that modulate the ALCAM-VE-cadherin interaction could be developed to control vascular permeability. ..
  14. Targeting Akt/NF-kappa beta for Pancreatic Cancer Therapy
    Fazlul Sarkar; Fiscal Year: 2007
    ..These results will provide mechanistic as well as pre-clinical data in support of our hypotheses and may open new and novel avenues for the treatment of human pancreatic cancer. ..
  15. A COLLABORATIVE GENOMIC STUDY OF BIPOLAR DISORDER
    Wade Berrettini; Fiscal Year: 2007
    ..Analysis of the existing sib pair families plus this large set of cases and controls should permit the confirmation of several vulnerability genes during this grant period. ..
  16. Bioengineering Annulus Fibrosus using Silk Scaffold
    Rita Kandel; Fiscal Year: 2006
    ..The viability and mechanical properties of the tissue will be evaluated. ..
  17. A Phase 2 study of AZD2171 in Recurrent Glioblastoma
    Tracy Batchelor; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  18. Mouse Mutagenesis Workshops
    David Beier; Fiscal Year: 2006
    ..Ultimately, this workshop will serve the goal of improving public health by facilitating the generation and utilization of model systems for biomedical investigation. ..
  19. Hepatitis C Virus Brain Infection in HCV/HIV Coinfection
    Tomasz Laskus; Fiscal Year: 2006
    ..The proposed study will allow to clarify the biological basis of neurcognitive dysfunction encountered in HCV infected, and particularly in HCV/HIV coinfected patients. ..
  20. The Genetic Basis of a Disease Free Model of Aging
    Yvette Conley; Fiscal Year: 2006
    ..This is the first study to propose to use lens transparency as a continuous, quantitative measure of the human aging process that will be suitable for genetic linkage and gene identification. ..
  21. Renal Cl channel polymorphisms and blood pressure
    Saba Sile; Fiscal Year: 2007
    ....
  22. NABTT-New Approaches to Brain Tumor Therapy (CNSC)
    Tracy Batchelor; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  23. Cleft Lip Genetics: A Multicenter International Consortium
    Andrew Lidral; Fiscal Year: 2007
    ..Ultimately, this will further the understanding of normal and abnormal craniofacial development, such that therapies to prevent CL/P can be developed and implemented. ..
  24. Genetic Determinants of Brain Structure and Disease Risk in Schizophrenia
    Thomas H Wassink; Fiscal Year: 2010
    ....
  25. Cleft Lip Genetics: A Multi Center International Consortium
    Andrew Lidral; Fiscal Year: 2009
    ..Through the use of complimentary mouse and human genetics this project will identify genes and pathways essential for normal facial development, such that preventive strategies for CL/P can be developed. ..
  26. Cell Cycle Variants and Metastatic Prostate Cancer Risk
    Adam Kibel; Fiscal Year: 2009
    ..At the conclusion of this study, we will have a panel of markers that can be used to predict which patients are at high risk of treatment failure and eventual death from prostate carcinoma. ..
  27. Identification of Disease Genes for Atrial Fibrillation
    Timothy Olson; Fiscal Year: 2009
    ..The long-term objectives of this work are to gain new insights into molecular mechanisms of arrhythmogenesis and to improve prediction, prevention, and treatment of AF. ..
  28. Genetic Epidemiology of Adult Brain Cancer: A Follow-up Study
    Jianming Tang; Fiscal Year: 2008
    ..abstract_text> ..
  29. Genetic Analysis of Developmental Mutations
    David Beier; Fiscal Year: 2007
    ..Finally, for a small number of mice, we will attempt to identify the causal locus by positional cloning, with an aim towards developing the most efficient protocols for this. ..
  30. Molecular Determinants of Neural Stem Cell Function
    David Gutmann; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  31. Genetic Mapping of Familial Idiopathic Scoliosis
    Jose Morcuende; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  32. Genetic Studies of Substance Abuse in Iowa Adoptees
    Robert Philibert; Fiscal Year: 2008
    ..unreadable] [unreadable]..
  33. Vitamin D and Soy Isoflavone Inhibition of Prostate
    Scott Cramer; Fiscal Year: 2008
    ..Our long-term goals are to develop a mechanistic-based chemoprevention strategy that utilizes dietary supplementation with vitamin D and soy isoflavanoid. [unreadable] [unreadable] [unreadable]..
  34. Mitochondrial Genetics of Recovery After Brain Injury
    Yvette Conley; Fiscal Year: 2008
    ....
  35. P53 in BBD and Breast Cancer Risk: A Multicenter Cohort
    Thomas Rohan; Fiscal Year: 2006
    ..Furthermore, establishment of our international, multi-disciplinary group will create a unique forum in which to undertake not only this study but also further investigations of the molecular pathogenesis of breast cancer. ..
  36. Ecology, genetics and physiology of insect vectors
    Elliot Krafsur; Fiscal Year: 2006
    ..abstract_text> ..
  37. Whole genome amplification and DNA pooling strategies
    Immaculata DeVivo; Fiscal Year: 2004
    ..Results from the pooling experiments will determine whether this method may be sensitive enough for use in nested case-control studies where a small difference in allele frequency is expected. ..
  38. SEQUENCE SELECTION AND PERSISTENCE OF HEPATITIS C
    Stuart Ray; Fiscal Year: 2003
    ..This application is efficient and has a high likelihood of success because it makes use of a well-characterized cohort, for which years of clinical and virologic data have already been assembled. ..
  39. THE EFFECT OF APOE ON OUTCOMES IN TBI ADULTS
    Yvette Conley; Fiscal Year: 2003
    ....
  40. PATHOGENESIS OF HEREDITARY TRANSTHYRETIN AMYLOIDOSIS
    Merrill Benson; Fiscal Year: 2003
    ....
  41. NUTRIENTS EFFECT ON GENOTYPE IN BREAST CANCER
    Deborah Dillon; Fiscal Year: 2003
    ..abstract_text> ..
  42. ENZYMES AND REACTIONS FOR REPAIR OF DNA IN HUMAN CELLS
    Linda Harris; Fiscal Year: 2003
    ....
  43. INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIES
    Roger Stevenson; Fiscal Year: 2003
    ....
  44. GENES FOR VASCULAR MORPHOGENESIS: A GENETIC APPROACH
    Qing Wang; Fiscal Year: 2003
    ..Moreover, understanding the genetic mechanisms underlying KTS offers possibilities for treatment of KTS as well as conditions such as cancer that depend on angiogenesis. ..
  45. NEUROFIBROMIN AS A NEGATIVE REGULATOR FOR ASTROCYTES
    David Gutmann; Fiscal Year: 2002
    ....
  46. LINKAGE DISEQUILIBRIUM MAPPING OF COMPLEX-TRAIT GENES
    Charles Langley; Fiscal Year: 2002
    ..Access to such simulations and to the programs themselves will be established on the world-wide- web. ..
  47. A MULTI-FACETED SEARCH FOR AUTISM DISEASE GENES
    Thomas Wassink; Fiscal Year: 2004
    ..Taken together, the training plan and research proposal provide for a breadth of training, the potential for meaningful discovery, and support for the establishment of an independent research career. ..
  48. RAS/BRAF Melanoma Mutations: Precursors, Risk, Prognosis
    Nancy Thomas; Fiscal Year: 2004
    ..This study is also expected to lead to identification of new chemotherapeutic targets and more efficient testing of inhibitors for NRAS and BRAF signaling, which have recently been developed. ..
  49. Cryptococcus gatti mating 1oci; mapping and gene study
    Vishnu Chaturvedi; Fiscal Year: 2004
    ..abstract_text> ..
  50. DNA Methylation as an Epigenetic Host Factor in HIV/AIDS
    Jianming Tang; Fiscal Year: 2006
    ..abstract_text> ..
  51. Function of MDM2 and its Alternatively spliced Isoforms
    Linda Harris; Fiscal Year: 2006
    ....
  52. IDENTIFICATION OF A 12P PROSTATE TUMOR SUPPRESSOR GENE
    Adam Kibel; Fiscal Year: 2006
    ..The identification of a novel tumor suppressor would provide a target for better prostate cancer therapy and/or more accurate prognostic information for men newly diagnosed with the disease. ..
  53. Prostate Specific Antigen and Prostate Ca. Progression
    Scott Cramer; Fiscal Year: 2005
    ..In addition, the identification of PSA as a modulator of prostate cancer aggressiveness may change the way that the PSA test is used for prostate cancer screening. ..
  54. Genetics of Anorexia Nervosa
    Wade Berrettini; Fiscal Year: 2005
    ..The diagnostic and genetic data and lymphoblastoid cell lines (derived from blood samples) will become part of a national archival resource for genetic studies of AN through the NIMH Genetics Initiative. ..
  55. Roles of TBX3 and its Isoform, TBX3+2a, in Breast Cancer
    Taosheng Huang; Fiscal Year: 2005
    ..By working with both an animal model and tissue acquired from breast surgeries, the proposed research aims to optimize the clinical relevance of the work. ..
  56. NNK, Beta-Adrenergic AA Release and Lung Cancer
    HILDEGARD SCHULLER; Fiscal Year: 2005
    ..2. To determine which products of the AA cascade are formed in untreated cells and in response to NNK, which of these products stimulate DNA synthesis, and what downstream effectors are activated by these products. ..
  57. Early-onset retinal degenerations
    Samuel Jacobson; Fiscal Year: 2005
    ....
  58. Molecular Determinants of Coronary Artery Disease
    Qing Wang; Fiscal Year: 2004
    ..The accomplishment of research objectives in this proposal has the potential to have a substantial impact on the understanding of the molecular mechanism of CAD and MI, thereby facilitating better prevention, diagnosis and therapy. ..
  59. Hepatitis C Recombination Incidence and Prevalence
    Stuart Ray; Fiscal Year: 2004
    ..Because the impact of HCV recombination has not yet been determined, R21 funding will provide adequate preliminary data to establish the importance and proper conduct of more extensive investigations. ..
  60. PRECLINICAL MODELS FOR HUMAN ASTROCYTOMAS
    David Gutmann; Fiscal Year: 2004
    ..abstract_text> ..
  61. P53-MEDIATED CHEMOSENSITIVITY IN NEUROBLASTOMA
    Linda Harris; Fiscal Year: 2002
    ..The studies proposed will assist in understanding mechanisms by which NB develop pleiotropic resistance to agents having different mechanisms of action and allow insight into new approaches to treat advanced NB. ..