Genomes and Genes
single stranded conformational polymorphism
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.
Publications230 found, 100 shown here
- Adult-onset primary open-angle glaucoma caused by mutations in optineurinTayebeh 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...
- Identity and diversity of coral endosymbionts (zooxanthellae) from three Palauan reefs with contrasting bleaching, temperature and shading historiesK 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...
- Identification of a gene that causes primary open angle glaucomaE 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...
- E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancersG 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...
- cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dogS 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...
- BRAF mutations in metastatic melanoma: a possible association with clinical outcomeRajiv 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...
- PKD2, a gene for polycystic kidney disease that encodes an integral membrane proteinT 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...
- p53 mutations in human cutaneous melanoma correlate with sun exposure but are not always involved in melanomagenesisS F Zerp
Department of Clinical Oncology, University Hospital, Leiden, The Netherlands
Br J Cancer 79:921-6. 1999....
- Deletions of AXIN1, a component of the WNT/wingless pathway, in sporadic medulloblastomasR 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...
- Pancreatic tumours: molecular pathways implicated in ductal cancer are involved in ampullary but not in exocrine nonductal or endocrine tumorigenesisP 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...
- Transmission of a fatal clonal tumor by biting occurs due to depleted MHC diversity in a threatened carnivorous marsupialHannah 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...
- Homoeologous gene silencing in hexaploid wheatA Bottley
Department of Crop Genetics, John Innes Centre, Norwich, NR4 7UH, UK
Plant J 47:897-906. 2006....
- BRAF and NRAS mutations are frequent in nodular melanoma but are not associated with tumor cell proliferation or patient survivalLars 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...
- Flexibility in algal endosymbioses shapes growth in reef coralsAngela F Little
School of Marine Biology and Aquaculture, James Cook University JCU, Townsville 4811, Australia
Science 304:1492-4. 2004....
- Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 geneF 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...
- Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosaM 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...
- AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1S Satoh
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
Nat Genet 24:245-50. 2000....
- Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCCC 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...
- 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 treatmentAntonio 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...
- A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndromeM 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...
- Missense mutations in the PAX6 gene in aniridiaN 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...
- E-cadherin germline mutations in familial gastric cancerP 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...
- Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2Nadia 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)...
- X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidaseJ 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...
- Genes duplicated by polyploidy show unequal contributions to the transcriptome and organ-specific reciprocal silencingKeith 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...
- Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucomaArijit 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...
- Intron variation in marbled murrelets detected using analyses of single-stranded conformational polymorphismsV L Friesen
Department of Biology, Queen s University, Kingston, Ontario, Canada
Mol Ecol 6:1047-58. 1997....
- Investigation of crystallin genes in familial cataract, and report of two disease associated mutationsK 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...
- Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial LectureEdwin 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....
- Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndromeS 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...
- Geographic and habitat partitioning of genetically distinct zooxanthellae (Symbiodinium) in Acropora corals on the Great Barrier ReefK 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...
- [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...
- KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden deathS 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....
- Hypermethylation of the promoter region of the E-cadherin gene (CDH1) in sporadic and ulcerative colitis associated colorectal cancerJ 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...
- Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiencyPaal S Andersen
Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark
Eur J Hum Genet 12:673-7. 2004....
- ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosaTakehiro 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...
- Preponderance of the oncogenic V599E and V599K mutations in B-raf kinase domain is enhanced in melanoma cutaneous/subcutaneous metastasesMartin Deichmann
Department of Dermatology, Heidelberg University Clinics, Vossbstrasse 2, 69115 Heidelberg, Germany
BMC Cancer 5:58. 2005....
- Comparing EST-based genetic maps between Pinus sylvestris and Pinus taedaP 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...
- Novel somatic mutations in the VHL gene in Swedish archived sporadic renal cell carcinomasK 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)...
- 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 historyK 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...
- Inactivation of the E-cadherin gene in primary gastric carcinomas and gastric carcinoma cell linesG 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...
- Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindnessK C Sippel
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, USA
Invest Ophthalmol Vis Sci 39:665-70. 1998....
- Analysis of histological therapeutic effect, apoptosis rate and p53 status after combined treatment with radiation, hyperthermia and 5-fluorouracil suppositories for advanced rectal cancersC Sakakura
First Department of Surgery, Kyoto Prefectural University of Medicine, Japan
Br J Cancer 77:159-66. 1998....
- A simple, precise and economical microdissection technique for analysis of genomic DNA from archival tissue sectionsJ 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...
- Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin geneD 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...
- Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancerB 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...
- Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observedA 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...
- 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 therapyRobyn P M Saw
Department of Surgery, Royal Prince Alfred Hospital, Sydney, Australia
Dis Colon Rectum 46:192-202. 2003....
- Thirteen novel mutations of the replicated region of PKD1 in an Asian populationB 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...
- VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutationH 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...
- Abnormalities of tumor suppressor gene p16 in pancreatic carcinoma: immunohistochemical and genetic findings compared with clinicopathological parametersKoushiro 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....
- Major histocompatibility complex variation in the Arabian oryxP 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...
- Genotypic variation in ATP-binding cassette transporter-1 (ABCA1) as contributors to the high and low high-density lipoprotein-cholesterol (HDL-C) phenotypeMyrna 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...
- Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerationsGayle 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...
- Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumorsJ 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...
- Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndromeL 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...
- 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....
- PAX6 gene variations associated with aniridia in south IndiaGuruswamy 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...
- Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancerAnnika 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...
- Novel ABCA1 compound variant associated with HDL cholesterol deficiencySeung 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...
- Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier geneAndrea 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...
- VSX1: a gene for posterior polymorphous dystrophy and keratoconusElise 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...
- 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 hypertensionNoriko 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...
- Ectopia lentis phenotypes and the FBN1 geneLesley 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...
- Recent duplication and inter-locus gene conversion in major histocompatibility class II genes in a teleost, the three-spined sticklebackThorsten 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...
- Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney diseaseH 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...
- VHL gene alterations in renal cell carcinoma patients: novel hotspot or founder mutations and linkage disequilibriumX 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...
- Identification of a new GLC1A mutation in a sporadic, primary open-angle glaucoma in JapanTakayuki 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...
- Analysis of G(1)/S checkpoint regulators in metastatic melanomaI 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...
- Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patientsLa 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...
- Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancerF 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...
- Frequent mutations in the neurotrophic tyrosine receptor kinase gene family in large cell neuroendocrine carcinoma of the lungAntonio 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...
- Absence of ST7 mutations in tumor-derived cell lines and tumorsK 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...
- Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian MalaysO 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...
- Genetic diversity and relationships among Venezuelan equine encephalitis virus field isolates from Colombia and VenezuelaA 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...
- Overexpression of platelet-derived growth factor receptor alpha in breast cancer is associated with tumour progressionInês Carvalho
IPATIMUP Institute of Molecular Pathology and Immunology of Porto University, Porto, Portugal
Breast Cancer Res 7:R788-95. 2005....
- Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditionsJ 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...
- Structure and polymorphisms of the human natriuretic peptide receptor C geneDolkun 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...
- 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...
- 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...
- Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinomaC 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...
- Molecular genetics of primary congenital glaucoma in BrazilIvaylo 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)...
- Inhibitors in the NFkappaB cascade comprise prime candidate genes predisposing to multiple sclerosis, especially in selected combinationsB 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...
- Activating BRAF and N-Ras mutations in sporadic primary melanomas: an inverse association with allelic loss on chromosome 9Rajiv 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...
- [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...
- Dynamic expression profile of p21WAF1/CIP1 and Ki-67 predicts survival in rectal carcinoma treated with preoperative radiochemotherapyBeate 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...
- Rapid differentiation of phenotypically similar yeast species by single-strand conformation polymorphism analysis of ribosomal DNAQi 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....
- Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic reviewAnsgar 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...
- The canine Recoverin (RCV1) gene: a candidate gene for generalized progressive retinal atrophyGabriele 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)...
- Screening of N-ras codon 61 mutations in paired primary and metastatic cutaneous melanomas: mutations occur early and persist throughout tumor progressionKatarina 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...
- The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individualsQingjiong 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...
- Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucomaWallace 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...
- IS900-PCR-based detection and characterization of Mycobacterium avium subsp. paratuberculosis from buffy coat of cattle and sheepMangesh 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...
- Geographical variations in TP53 mutational spectrum in ovarian carcinomasA 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...
- KIT activation in uterine cervix adenosquamous carcinomas by KIT/SCF autocrine/paracrine stimulation loopsOlga 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...
- PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardationA 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...
- A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophyNatik 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...
- Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucomaM 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...
- Phylogeography recapitulates topography: very fine-scale local endemism of a saproxylic 'giant' springtail at Tallaganda in the Great Dividing Range of south-east AustraliaR 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)...
- Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERGH 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...
- SSCP is not so difficult: the application and utility of single-stranded conformation polymorphism in evolutionary biology and molecular ecologyP 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...
- MOLECULAR BIOLOGY OF HUMAN ERYTHROCYTE ANKYRINPatrick 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; ..
- THE GENETIC ETIOLOGY OF HYPOPLASTIC LEFT HEART SYNDROMEPeter Bowers; Fiscal Year: 2004..This award provides all of the essential components to develop my career and will maximize my academic potential. ..
- STRUCTURAL DETERMINANTS OF HCG FOLDING AND ASSEMBLYElliott 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. ..
- POSITIONAL CLONING OF THE WERNERS SYNDROME GENEFuki 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...
- DNA POLYMORPHISMS IN THE MYOSTATIN GENE IN SARCOPENIAJeremy 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 ..
- GENETIC STUDY OF OPIOID ADDICTIONWade 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. ..
- SEARCH FOR NEW GENES CAUSING NON-SYNDROMIC DEAFNESSXue 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. ..
- RPE65 IN RETINAL METABOLISM AND DEGENERATIONDebra 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. ..
- Molecular Biology of Erythrocyte AnkyrinPatrick G Gallagher; Fiscal Year: 2010..These studies may provide important information to be used for diagnosis and treatment of patients with this disorder. ..
- Molecular Epidemiology of Smoking & Breast CancerKATHLEEN 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. ..
- Examination of FLT3 Mutations in Acute Myeloid LeukemiaDerek Stirewalt; Fiscal Year: 2006..Together, the research proposal and educational program provide Dc Stirewalt with the skills to become an independent clinical investigator. ..
- The Cytoskeleton in HAART-Induced CardiomyopathyDavid 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. ..
- Role of CD166/ALCAM in Lung Endothelial Barrier FunctionSolomon Ofori Acquah; Fiscal Year: 2007..If true, then pharmacological agents that modulate the ALCAM-VE-cadherin interaction could be developed to control vascular permeability. ..
- Targeting Akt/NF-kappa beta for Pancreatic Cancer TherapyFazlul 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. ..
- A COLLABORATIVE GENOMIC STUDY OF BIPOLAR DISORDERWade 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. ..
- Bioengineering Annulus Fibrosus using Silk ScaffoldRita Kandel; Fiscal Year: 2006..The viability and mechanical properties of the tissue will be evaluated. ..
- A Phase 2 study of AZD2171 in Recurrent GlioblastomaTracy Batchelor; Fiscal Year: 2006..unreadable] [unreadable]..
- Mouse Mutagenesis WorkshopsDavid 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. ..
- Hepatitis C Virus Brain Infection in HCV/HIV CoinfectionTomasz 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. ..
- The Genetic Basis of a Disease Free Model of AgingYvette 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. ..
- Renal Cl channel polymorphisms and blood pressureSaba Sile; Fiscal Year: 2007....
- NABTT-New Approaches to Brain Tumor Therapy (CNSC)Tracy Batchelor; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- Cleft Lip Genetics: A Multicenter International ConsortiumAndrew 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. ..
- Genetic Determinants of Brain Structure and Disease Risk in SchizophreniaThomas H Wassink; Fiscal Year: 2010....
- Cleft Lip Genetics: A Multi Center International ConsortiumAndrew 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. ..
- Cell Cycle Variants and Metastatic Prostate Cancer RiskAdam 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. ..
- Identification of Disease Genes for Atrial FibrillationTimothy 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. ..
- Genetic Epidemiology of Adult Brain Cancer: A Follow-up StudyJianming Tang; Fiscal Year: 2008..abstract_text> ..
- Genetic Analysis of Developmental MutationsDavid 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. ..
- Molecular Determinants of Neural Stem Cell FunctionDavid Gutmann; Fiscal Year: 2008..unreadable] [unreadable] [unreadable] [unreadable]..
- Genetic Mapping of Familial Idiopathic ScoliosisJose Morcuende; Fiscal Year: 2008..unreadable] [unreadable] [unreadable] [unreadable]..
- Genetic Studies of Substance Abuse in Iowa AdopteesRobert Philibert; Fiscal Year: 2008..unreadable] [unreadable]..
- Vitamin D and Soy Isoflavone Inhibition of ProstateScott 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]..
- Mitochondrial Genetics of Recovery After Brain InjuryYvette Conley; Fiscal Year: 2008....
- P53 in BBD and Breast Cancer Risk: A Multicenter CohortThomas 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. ..
- Ecology, genetics and physiology of insect vectorsElliot Krafsur; Fiscal Year: 2006..abstract_text> ..
- Whole genome amplification and DNA pooling strategiesImmaculata 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. ..
- SEQUENCE SELECTION AND PERSISTENCE OF HEPATITIS CStuart 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. ..
- THE EFFECT OF APOE ON OUTCOMES IN TBI ADULTSYvette Conley; Fiscal Year: 2003....
- PATHOGENESIS OF HEREDITARY TRANSTHYRETIN AMYLOIDOSISMerrill Benson; Fiscal Year: 2003....
- NUTRIENTS EFFECT ON GENOTYPE IN BREAST CANCERDeborah Dillon; Fiscal Year: 2003..abstract_text> ..
- ENZYMES AND REACTIONS FOR REPAIR OF DNA IN HUMAN CELLSLinda Harris; Fiscal Year: 2003....
- INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIESRoger Stevenson; Fiscal Year: 2003....
- GENES FOR VASCULAR MORPHOGENESIS: A GENETIC APPROACHQing 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. ..
- NEUROFIBROMIN AS A NEGATIVE REGULATOR FOR ASTROCYTESDavid Gutmann; Fiscal Year: 2002....
- LINKAGE DISEQUILIBRIUM MAPPING OF COMPLEX-TRAIT GENESCharles Langley; Fiscal Year: 2002..Access to such simulations and to the programs themselves will be established on the world-wide- web. ..
- A MULTI-FACETED SEARCH FOR AUTISM DISEASE GENESThomas 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. ..
- RAS/BRAF Melanoma Mutations: Precursors, Risk, PrognosisNancy 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. ..
- Cryptococcus gatti mating 1oci; mapping and gene studyVishnu Chaturvedi; Fiscal Year: 2004..abstract_text> ..
- DNA Methylation as an Epigenetic Host Factor in HIV/AIDSJianming Tang; Fiscal Year: 2006..abstract_text> ..
- Function of MDM2 and its Alternatively spliced IsoformsLinda Harris; Fiscal Year: 2006....
- IDENTIFICATION OF A 12P PROSTATE TUMOR SUPPRESSOR GENEAdam 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. ..
- Prostate Specific Antigen and Prostate Ca. ProgressionScott 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. ..
- Genetics of Anorexia NervosaWade 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. ..
- Roles of TBX3 and its Isoform, TBX3+2a, in Breast CancerTaosheng 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. ..
- NNK, Beta-Adrenergic AA Release and Lung CancerHILDEGARD 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. ..
- Early-onset retinal degenerationsSamuel Jacobson; Fiscal Year: 2005....
- Molecular Determinants of Coronary Artery DiseaseQing 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. ..
- Hepatitis C Recombination Incidence and PrevalenceStuart 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. ..
- PRECLINICAL MODELS FOR HUMAN ASTROCYTOMASDavid Gutmann; Fiscal Year: 2004..abstract_text> ..
- P53-MEDIATED CHEMOSENSITIVITY IN NEUROBLASTOMALinda 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. ..