genetic screening

Summary

Summary: Searching a population or individuals for persons possessing certain genotypes or karyotypes that: (1) are already associated with disease or predispose to disease; (2) may lead to disease in their descendants; or (3) produce other variations not known to be associated with disease. Genetic screening may be directed toward identifying phenotypic expression of genetic traits. It includes prenatal genetic screening.

Top Publications

  1. pmc Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
    A Antoniou
    Cancer Research U K Genetic Epidemiology Unit, Department of Public Health, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 72:1117-30. 2003
  2. ncbi Cascade genetic screening for familial hypercholesterolemia
    T P Leren
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet, Oslo, Norway
    Clin Genet 66:483-7. 2004
  3. ncbi Predictive testing for complex diseases using multiple genes: fact or fiction?
    A Cecile J W Janssens
    Erasmus MC, University Medical Center Rotterdam, The Netherlands
    Genet Med 8:395-400. 2006
  4. pmc Genetic screening for pheochromocytoma: should SDHC gene analysis be included?
    M Mannelli
    Endocrinology, Department of Clinical Physiopathology, University of Florence, Florence, Italy
    J Med Genet 44:586-7. 2007
  5. ncbi Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
    Hanne Meijers-Heijboer
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Nat Genet 31:55-9. 2002
  6. ncbi A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
    Peter A Gochee
    Queensland Institute of Medical Research and the University of Queensland, Brisbane, Western Australia
    Gastroenterology 122:646-51. 2002
  7. pmc Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    Christelle M Durand
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    Nat Genet 39:25-7. 2007
  8. ncbi Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
  9. ncbi Genetic epidemiology of BRCA mutations--family history detects less than 50% of the mutation carriers
    Pål Møller
    Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet Radiumhospitalet Medical Centre, N 0310 Oslo, Norway
    Eur J Cancer 43:1713-7. 2007
  10. ncbi Strong association of de novo copy number mutations with sporadic schizophrenia
    Bin Xu
    Department of Physiology and Cellular Biophysics, Columbia University, New York, New York 10032, USA
    Nat Genet 40:880-5. 2008

Detail Information

Publications342 found, 100 shown here

  1. pmc Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
    A Antoniou
    Cancer Research U K Genetic Epidemiology Unit, Department of Public Health, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 72:1117-30. 2003
    ..The variation in risk by age at diagnosis of index case is consistent with the effects of other genes modifying cancer risk in carriers...
  2. ncbi Cascade genetic screening for familial hypercholesterolemia
    T P Leren
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet, Oslo, Norway
    Clin Genet 66:483-7. 2004
    ..This is referred to as cascade genetic screening. This review focuses on organization of a cascade genetic screening program for FH as well as cost-..
  3. ncbi Predictive testing for complex diseases using multiple genes: fact or fiction?
    A Cecile J W Janssens
    Erasmus MC, University Medical Center Rotterdam, The Netherlands
    Genet Med 8:395-400. 2006
    ..There is ongoing debate about whether testing low-risk genes at multiple loci will be useful in clinical care and public health. We investigated the usefulness of multiple genetic testing using simulated data...
  4. pmc Genetic screening for pheochromocytoma: should SDHC gene analysis be included?
    M Mannelli
    Endocrinology, Department of Clinical Physiopathology, University of Florence, Florence, Italy
    J Med Genet 44:586-7. 2007
    ....
  5. ncbi Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
    Hanne Meijers-Heijboer
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Nat Genet 31:55-9. 2002
    ....
  6. ncbi A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
    Peter A Gochee
    Queensland Institute of Medical Research and the University of Queensland, Brisbane, Western Australia
    Gastroenterology 122:646-51. 2002
    ..We accessed a well-defined population in Busselton, Australia, and determined the frequency of the H63D mutation and its influence on total body iron stores...
  7. pmc Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    Christelle M Durand
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    Nat Genet 39:25-7. 2007
    ..These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders...
  8. ncbi Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
    ..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
  9. ncbi Genetic epidemiology of BRCA mutations--family history detects less than 50% of the mutation carriers
    Pål Møller
    Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet Radiumhospitalet Medical Centre, N 0310 Oslo, Norway
    Eur J Cancer 43:1713-7. 2007
    ..Twelve (67%) did not meet clinical criteria to be selected for testing. All patients with mutation collaborated actively to give our offer of predictive genetic testing to their relatives. No complaint on the activity was received...
  10. ncbi Strong association of de novo copy number mutations with sporadic schizophrenia
    Bin Xu
    Department of Physiology and Cellular Biophysics, Columbia University, New York, New York 10032, USA
    Nat Genet 40:880-5. 2008
    ....
  11. ncbi FMR1 and the fragile X syndrome: human genome epidemiology review
    D C Crawford
    Centers for Disease Control and Prevention, Epidemic Intelligence Service, Division of Applied Public Health Training, Epidemiology Program Office, Atlanta, Georgia, USA
    Genet Med 3:359-71. 2001
    ..The timing as well as benefits and harms associated with the different screening strategies are the subject of current research and discussion...
  12. pmc A transgenic approach for RNA interference-based genetic screening in mice
    Shaohua Peng
    Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 103:2252-6. 2006
    b>Genetic screening is the most powerful method through which to uncover gene function. It has been applied very successfully in lower organisms but seldom attempted in mammalian species because of their long generation time...
  13. ncbi A survey of newborn screening for cystic fibrosis in Europe
    Kevin W Southern
    University of Liverpool, Royal Liverpool Children s Hospital, Liverpool, United Kingdom
    J Cyst Fibros 6:57-65. 2007
    ..Following identification of the CFTR gene, DNA analysis for common CF-associated mutations has been increasingly used as a second tier test. The aim of this study was to survey the current practice of CF NBS programmes in Europe...
  14. ncbi A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
    Richard H Duerr
    Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, University of Pittsburgh Medical Center Presbyterian, Mezzanine Level, C Wing, 200 Lothrop Street, Pittsburgh, PA 15213, USA
    Science 314:1461-3. 2006
    ..These results and previous studies on the proinflammatory role of IL-23 prioritize this signaling pathway as a therapeutic target in inflammatory bowel disease...
  15. ncbi The genetics of colorectal cancer
    Paula M Calvert
    Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA
    Ann Intern Med 137:603-12. 2002
    ..Practicing clinicians should recognize the patterns of clinical colon cancer, understand its causes, and be able to use genetic testing and endoscopic screening for prevention...
  16. ncbi Clinical findings with implications for genetic testing in families with clustering of colorectal cancer
    J T Wijnen
    Department of Human Genetics, Leiden University Medical Center, The Netherlands
    N Engl J Med 339:511-8. 1998
    ..We assessed the prevalence of MSH2 and MLH1 mutations in families suspected of having hereditary nonpolyposis colorectal cancer and evaluated whether clinical findings can predict the outcome of genetic testing...
  17. ncbi A sensitive and rapid alternative to HLA typing as a genetic screening test for abacavir hypersensitivity syndrome
    Annalise M Martin
    Centre for Clinical Immunology and Biomedical Statistics, Royal Perth Hospital and Murdoch University, Perth, Western Australia 6000, Australia
    Pharmacogenet Genomics 16:353-7. 2006
    ..To facilitate routine screening, we have developed a rapid flow cytometry method for HLA-B57 phenotyping using commercially available B17 monoclonal antibodies...
  18. ncbi Minimizing the risk of reporting false positives in large-scale RNAi screens
    Christophe J Echeverri
    Cenix BioScience GmbH, Tatzberg 47, Dresden, 10307, Germany
    Nat Methods 3:777-9. 2006
    ....
  19. pmc Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
    Susan B Bressman
    Department of Neurology, Beth Israel Medical Center, New York, NY 10003, USA
    Lancet Neurol 8:441-6. 2009
    ..To assess more broadly the role of this gene, we screened for mutations in families that included one family member who had early-onset, non-focal primary dystonia...
  20. ncbi Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
    James D Fackenthal
    Department of Medicine and Center for Clinical Cancer Genetics, University of Chicago, Box MC2115, 5841 S Maryland Avenue, Chicago, Illinois 60615, USA
    Nat Rev Cancer 7:937-48. 2007
    ..Although estimates of both mutation prevalence and mutation penetrance rates are inconsistent and occasionally controversial, understanding them is crucial for providing accurate risk information to each patient...
  21. ncbi Hereditary colorectal cancer
    Henry T Lynch
    Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebr 68178, USA
    N Engl J Med 348:919-32. 2003
  22. ncbi Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening
    Trond P Leren
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet Radiumhospitalet Medical Center, Oslo, Norway
    Community Genet 11:26-35. 2008
    Too few familial hypercholesterolemia (FH) patients are diagnosed. The most cost-effective strategy to diagnose FH is to examine first-degree relatives of already diagnosed patients. This is referred to as cascade genetic screening.
  23. ncbi Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation
    C J Yen
    Division of Geriatric Medicine and Gerontology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Biochem Biophys Res Commun 241:270-4. 1997
    ..01 in Chinese. We conclude that the Pro12Ala PPAR gamma 2 gene variant is present in diverse populations. Further studies of the Pro12Ala variant will determine its relevance to obesity, insulin resistance, and type 2 diabetes...
  24. ncbi LDL-receptor mutations in Europe
    George V Z Dedoussis
    Department of Science Dietetics Nutrition, Harokopio University of Athens, Athens, Greece
    Hum Mutat 24:443-59. 2004
    ..Herein, we focus on the published European LDLR mutation data that reflect its heterogeneity and phenotypic penetrance...
  25. ncbi Motivations and psychosocial impact of genetic testing for HNPCC
    M J Esplen
    Department of Psychiatry, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet 103:9-15. 2001
    ..These preliminary findings should be further explored in a larger prospective study design over multiple time points...
  26. pmc Reporting genetic results in research studies: summary and recommendations of an NHLBI working group
    Ebony B Bookman
    Division of Epidemiology and Clinical Applications, National Heart, Lung, and Blood Institute, Bethesda, Maryland 20892 7934, USA
    Am J Med Genet A 140:1033-40. 2006
    ..Finally, the Working Group recommended procedures for reporting genetic research results and encouraged increased efforts to create uniform guidelines for this activity...
  27. pmc Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme
    E Amir
    University of Manchester, UK
    J Med Genet 40:807-14. 2003
    ..A new model by Tyrer and Cuzick has addressed these deficiencies. Therefore, this study has assessed the goodness of fit and discriminatory value of the Tyrer-Cuzick model against established models namely Gail, Claus, and Ford...
  28. pmc Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
    D A Koolen
    Department of Human Genetics, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, Netherlands
    J Med Genet 41:892-9. 2004
    ..However, for most subtelomeric defects a characteristic clinical phenotype remains to be elucidated...
  29. pmc Spectrum of chemically induced mutations from a large-scale reverse-genetic screen in Arabidopsis
    Elizabeth A Greene
    Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Genetics 164:731-40. 2003
    ..As expected for alkylation of guanine by EMS, >99% of mutations are G/C-to-A/T transitions. A nearest-neighbor bias around the mutated base pair suggests that mismatch repair counteracts alkylation damage...
  30. ncbi Clinical and genetic issues in familial dilated cardiomyopathy
    Emily L Burkett
    Division of Cardiology, Department of Medicine, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OT 97239, USA
    J Am Coll Cardiol 45:969-81. 2005
    ..Genetic testing is not yet commonly available, but its emergence will provide new opportunities for presymptomatic diagnosis...
  31. ncbi Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
    B B Roa
    Baylor DNA Diagnostic Laboratory, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 14:185-7. 1996
    ....
  32. ncbi A single nucleotide polymorphism in glycogen synthase kinase 3-beta promoter gene influences onset of illness in patients affected by bipolar disorder
    Francesco Benedetti
    Istituto Scientifico Universitario Ospedale San Raffaele, Department of Neuropsychiatric Sciences, Milan, Italy
    Neurosci Lett 355:37-40. 2004
    ....
  33. pmc Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population
    Yun Freudenberg-Hua
    Institute of Human Genetics, University of Bonn, D 53111 Bonn, Germany
    Genome Res 13:2271-6. 2003
    ..Therefore, radical variants obtain distinctively lower database coverage. However, those variants appear to be under weak purifying selection and thus could play a role in the etiology of genetically complex diseases...
  34. ncbi Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease
    C Bombieri
    Istituto di Biologia e Genetica, Universita di Verona, Italy
    Hum Genet 103:718-22. 1998
    ..These results confirm the involvement of the CFTR gene in disseminated bronchiectasis of unknown origin, and suggest a possible role for CFTR gene mutations in sarcoidosis, and for the 5T allele in pulmonary emphysema...
  35. ncbi How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom
    Simon Sanderson
    University of Cambridge and Cambridge Genetics Knowledge Park, Cambridge, UK
    Genet Med 7:495-500. 2005
    ....
  36. ncbi Psychological impact of genetic testing for cancer susceptibility: an update of the literature
    Bettina Meiser
    Department of Medical Oncology, Prince of Wales Hospital, Sydney, Australia
    Psychooncology 14:1060-74. 2005
    ..As genetic testing is becoming available for other types of familial cancer, additional investigations will be needed as there is evidence to suggest that the impact of genetic testing may be unique to each type of familial cancer...
  37. ncbi Hereditary breast cancer growth rates and its impact on screening policy
    Madeleine M A Tilanus-Linthorst
    Department of Surgical Oncology, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Eur J Cancer 41:1610-7. 2005
    ..It is recommended that the screening frequency should be adjusted according to a woman's age and a high-sensitive biannual test may be appropriate before the age of 40 years...
  38. ncbi Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective
    A D Laurie
    Atheroscler Suppl 5:13-5. 2004
    ..This screening programme is helpful to clinicians and benefits FH patients and their families, and has provided us with a pool of LDL receptor variants on which to base research into this disease...
  39. ncbi Screening of the eight BBS genes in Tunisian families: no evidence of triallelism
    Nizar Smaoui
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 47:3487-95. 2006
    ..To study Bardet-Biedl syndrome (BBS) in the Tunisian population and determine the presence of triallelism in the eight identified BBS genes...
  40. pmc Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort
    M Watson
    Department of Psychological Medicine, Royal Marsden NHS Foundation Trust, London and Sutton, SM2 5PT, England
    Br J Cancer 91:1787-94. 2004
    ..The data show persistent worry in younger female gene carriers and confirm changes in risk management consistent with carrier status. Men were not adversely affected by genetic testing in terms of their general mental health...
  41. ncbi Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC)
    A Loukola
    Department of Medical Genetics, Biomedicum Helsinki, FIN-00014 University of Helsinki, Finland
    Cancer Res 61:4545-9. 2001
    ..BAT26 was able to identify all 27 mutation-positive individuals in this series. The marker failed to identify 2 high MSI tumors and 20 low MSI tumors, all of which expressed MLH1, MSH2, and MSH6 when scrutinized by immunohistochemistry...
  42. ncbi Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles
    Jana Zernant
    Department of Ophthalmology, Eye Institute Research, Columbia University, 630 West 168th Street, New York, NY 10032, USA
    Invest Ophthalmol Vis Sci 46:3052-9. 2005
    ..Genetically heterogeneous inheritance complicates the analyses of LCA cases, especially in patients without a family history of the disorder, and conventional methods are of limited value...
  43. ncbi Awareness of genetic testing for colorectal cancer predisposition among specialists in gastroenterology
    Shivani Batra
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Am J Gastroenterol 97:729-33. 2002
    ....
  44. ncbi Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem
    Marieke J H Baars
    Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Genet Med 7:605-10. 2005
    ....
  45. pmc Using linkage genome scans to improve power of association in genome scans
    Kathryn Roeder
    Department of Statistics, Carnegie Mellon University, Pittsburgh, PA 15213 3890, USA
    Am J Hum Genet 78:243-52. 2006
    ..This inquiry reveals that, among genetic models that are seemingly equal in genetic information, some are much more promising than others for this mode of analysis...
  46. ncbi Rapid detection of VHL exon deletions using real-time quantitative PCR
    Jasmien Hoebeeck
    Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Lab Invest 85:24-33. 2005
    ..5 h), accurate and sensitive (ng amount of input DNA) exon deletion screening in routine DNA diagnosis of VHL disease. Similar assays can be designed for deletion screening in other genetic disorders...
  47. pmc Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
    Markus Feldkötter
    Institute of Human Genetics, University Clinic, Rheinische Friedrich Wilhelms University Bonn, Bonn, Germany
    Am J Hum Genet 70:358-68. 2002
    ..On the basis of SMN2 copy number, we calculated the posterior probability that a child with homozygous absence of SMN1 will develop type I, type II, or type III SMA...
  48. ncbi Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression
    Xiaodong Zhang
    Department of Cell Biology, Center for Models of Human Disease, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC 27710, USA
    Neuron 45:11-6. 2005
    ..Identification of a loss-of-function mutation in hTPH2 suggests that defect in brain serotonin synthesis may represent an important risk factor for unipolar major depression...
  49. ncbi Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test
    Yi Ning Su
    Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
    Hum Mutat 25:460-7. 2005
    ..We demonstrated that DHPLC is a fast and reliable tool for detection of carriers of SMA...
  50. ncbi Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil
    Magda C B Gomes
    Department of Oncology, Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
    Breast Cancer Res Treat 103:349-53. 2007
    ..Moreover, a small number of founder mutations may be prevalent in Brazil, raising the possibility that a rapid and inexpensive genetic test may be developed to screen for inherited susceptibility to breast cancer in Brazil...
  51. ncbi Multiple endocrine neoplasia syndrome: genetic basis for clinical management
    Tobias Carling
    Department of Surgery, Yale University School of Medicine, New Haven, CT 06510, USA
    Curr Opin Oncol 17:7-12. 2005
    ..Improved understanding of the molecular and clinical genetics associated with these lesions will likely enhance the diagnosis and treatment of patients with these diseases...
  52. ncbi Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy
    Christine Chiu
    Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney Australia
    J Mol Cell Cardiol 43:337-43. 2007
    ..DNA variants in Ca(2+) genes may also be involved as modifying factors in phenotype development. Further evaluation of the role of defects in Ca(2+) regulation will shed light on the molecular pathogenesis of FHC...
  53. ncbi Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands
    David Wonderling
    Cancer and Public Health Unit and Health Services Research Unit, London School of Hygiene and Tropical Medicine, London, United Kingdom
    Semin Vasc Med 4:97-104. 2004
    ..To assess the cost-effectiveness of systematic genetic screening of family members of persons diagnosed with FH, an analysis was conducted using data from a nationwide ..
  54. ncbi Genetic screening of the lipoprotein lipase gene for mutations in Chinese subjects with or without hypertriglyceridemia
    Yuhong Yang
    Department of Biochemistry, Tianjin Medical University, Tianjin 300070, China
    J Genet Genomics 34:381-91. 2007
    ..To investigate the association between the mutations in lipoprotein lipase gene and hypertriglyceridemia (HTG)...
  55. ncbi AGA technical review on hereditary colorectal cancer and genetic testing
    F M Giardiello
    Department of Medicine, Oncology Center, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Gastroenterology 121:198-213. 2001
    ..The paper was approved by the Committee on March 20, 2001, and by the AGA Governing Board on April 18, 2001...
  56. pmc First trimester diagnosis and screening for fetal aneuploidy
    Deborah A Driscoll
    University of Pennsylvania Medical Center, Philadelphia, Pennsylvania, USA
    Genet Med 10:73-5. 2008
    ....
  57. ncbi Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers
    Jonathan A Cohn
    Department of Medicine, Durham Veterans Administration and Duke University Medical Center, Durham, North Carolina 27710, USA
    Hum Mutat 26:303-7. 2005
    ..Having two CFTR mutations imparts a higher relative risk, while having only one mutation imparts a higher attributable risk...
  58. ncbi Attitudes and beliefs concerning prostate cancer genetic screening
    David J Doukas
    Department of Family and Geriatric Medicine, Institute of Bioethics, Public Policy and Law, University of Louisville, KY 40202, USA
    Clin Genet 66:445-51. 2004
    ..The relationship of men to others, family and society, require further investigation in this and other aspects of genetic testing...
  59. ncbi Sec15, a component of the exocyst, promotes notch signaling during the asymmetric division of Drosophila sensory organ precursors
    Hamed Jafar-Nejad
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Dev Cell 9:351-63. 2005
    ..Our data indicate that Sec15 mediates a specific vesicle trafficking event to ensure proper neuronal fate specification in Drosophila...
  60. ncbi Population genetic screening programmes: principles, techniques, practices, and policies
    Béatrice Godard
    INSERM SC11, Paris, France
    Eur J Hum Genet 11:S49-87. 2003
    ..and scientific views on the principles, techniques, practices, and policies that impact on the population genetic screening programmes in Europe...
  61. ncbi Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas
    Massimo Mannelli
    Department Clinical Pathophysiology, University of Florence, Viale Pieraccini 5, 50139 Florence, Italy
    J Clin Endocrinol Metab 94:1541-7. 2009
    ..The aim of the study was to define the frequency of hereditary forms and the genotype/phenotype correlations in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas...
  62. ncbi Assessing BRCA carrier probabilities in extended families
    Carlos H Barcenas
    Department of Epidemiology, The University of Texas M D Anderson Cancer Center, Houston, TX 77030 4009, USA
    J Clin Oncol 24:354-60. 2006
    ..We also studied the effect of extended family information on risk estimation using BOADICEA...
  63. ncbi A noninvasive genetic screening test to detect oral preneoplastic lesions
    Jantine F Bremmer
    Department of Oromaxillofacial Surgery and Oral Pathology, VU University Medical Center, Amsterdam, The Netherlands
    Lab Invest 85:1481-8. 2005
    ....
  64. ncbi Genetic testing in cardiovascular disease
    Nathaniel H Robin
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    J Am Coll Cardiol 50:727-37. 2007
    ..Specific applications to cardiovascular diseases, including coronary artery disease, cardiomyopathies, cardiac arrhythmias, and pulmonary arterial hypertension are discussed...
  65. ncbi Psychological impact of genetic testing in women from high-risk breast cancer families
    B Meiser
    Prince of Wales Clinical School, Faculty of Medicine, University of NSW, Australia
    Eur J Cancer 38:2025-31. 2002
    ..Women testing positive may anticipate a sustained increase in breast cancer distress following disclosure, although no other adverse psychological outcomes were observed in this group...
  66. ncbi Retroviral insertional mutagenesis: past, present and future
    A G Uren
    Division of Molecular Genetics, Netherlands Cancer Institute, Amsterdam
    Oncogene 24:7656-72. 2005
    ....
  67. ncbi Current and future genetic screening for male infertility
    Paul J Turek
    Department of Urology, University of California San Francisco, 2330 Post Street, San Francisco, California 94115 1695, USA
    Urol Clin North Am 29:767-92. 2002
    ....
  68. pmc Getting insurance after genetic screening on familial hypercholesterolaemia; the need to educate both insurers and the public to increase adherence to national guidelines in The Netherlands
    P J Marang-van de Mheen
    Department of Social Medicine, Academic Medical Centre, Amsterdam, The Netherlands
    J Epidemiol Community Health 56:145-7. 2002
    ..Frequently FH was diagnosed after a first cardiac event...
  69. ncbi Genetic screening in infertile Mexican men: chromosomal abnormalities, Y chromosome deletions, and androgen receptor CAG repeat length
    Sandra Guadalupe Martínez-Garza
    Instituto de Ciencias en Reproducción Humana Vida Instituto Vida, Plaza Las Américas 115, Col Jardines del Moral, Leon, Guanajuato, México CP 37160
    J Androl 29:654-60. 2008
    ..In addition, expansion of the CAG repeat segments of the androgen receptor is not correlated with male idiopathic infertility...
  70. ncbi What next for preimplantation genetic screening? Beyond aneuploidy
    Eleuterio R Hernandez
    Clínica de Ginecología y Medicina de la Reproducción FivMadrid, Madrid, Spain
    Hum Reprod 24:1538-41. 2009
    Many published papers suggest a favourable impact of preimplantation genetic screening (PGS) on implantation and pregnancy rates, but more recent randomized studies have not confirmed, or could not conclude, that PGS actually improved ..
  71. pmc Genetic screening using the colour change of a PNA-DNA hybrid-binding cyanine dye
    L Marcus Wilhelmsson
    Department of Physical Chemistry, Chalmers University of Technology, S 412 96 Gothenburg, Sweden
    Nucleic Acids Res 30:E3. 2002
    ..and diseases becomes revealed at an ever-increasing pace, the need arises for the development of rapid genetic screening methods for diagnostic purposes. Genetic diseases show great diversity...
  72. ncbi Multiple endocrine neoplasia type 1 (MEN1): its manifestations and effect of genetic screening on clinical outcome
    C R C Pieterman
    Department of Internal Medicine, University Medical Center Utrecht, Utrecht, The Netherlands
    Clin Endocrinol (Oxf) 70:575-81. 2009
    Effect of genetic screening on outcome in multiple endocrine neoplasia type 1 (MEN1) remains unclear. Expression of MEN1 is described using currently available diagnostic techniques...
  73. ncbi Content of communication by pediatric residents after newborn genetic screening
    Michael H Farrell
    Center for Patient Care and Outcomes Research, Medical College of Wisconsin, Milwaukee, Wisconsin, USA
    Pediatrics 116:1492-8. 2005
    Newborn screening saves lives, but psychosocial complications after genetic screening have led to doubts about expanding programs...
  74. ncbi Genetic screening for iron overload: No evidence of discrimination at 1 year
    Mark A Hall
    Wake Forest University Medical School, Department of Public Health Sciences, 2000 West 1st Street, Winston Salem, NC 27157 1063, USA
    J Fam Pract 56:829-34. 2007
    ..This study measured the extent of insurance and employment problems associated with population screening for hereditary hemochromatosis and iron overload...
  75. ncbi Psychological adjustment and knowledge about hereditary hemochromatosis in a clinic-based sample: a prospective study
    Bettina Meiser
    Hereditary Cancer Clinic, Department of Medical Oncology, Prince of Wales Hospital, Sydney, Australia
    J Genet Couns 14:453-63. 2005
    ..Results also show that patients may benefit from strategies aimed at improving recall of genetic testing results...
  76. ncbi Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements
    Sandra Monfort
    Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain
    J Lab Clin Med 147:295-300. 2006
    ..In conclusion, MLPA can be considered a quick, sensitive, cost-effective, and easy method to screen for subtelomeric rearrangements, but any finding based in the testing of one probe should be confirmed by other sources...
  77. ncbi Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minn, USA
    JAMA 296:1507-17. 2006
    ..Potential risk-reducing interventions are recommended for individuals known to have these mutations...
  78. ncbi Medical and lay attitudes towards genetic screening and testing in Finland
    Hanna Toiviainen
    1National Research and Development Centre for Welfare and Health STAKES, Health and Social Services, PO Box 220, 00531 Helsinki, Finland
    Eur J Hum Genet 11:565-72. 2003
    The purpose of this study was to compare physicians', midwives' and lay people's attitudes towards genetic screening and testing to find out whether medical education and experience influence attitudes of genetic screening and testing...
  79. ncbi Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause
    Katariina Hannula
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Pediatrics 109:441-8. 2002
    ..The objectives of this study were to study the role of matUPD7 in growth failure of unknown cause and in cases of SRS, and to evaluate the efficiency of genetic testing for matUPD7 as a diagnostic tool...
  80. ncbi From sequence to phenotype: reverse genetics in Drosophila melanogaster
    Melissa D Adams
    Department of Biology, University of North Carolina, Chapel Hill, North Carolina 27599, USA
    Nat Rev Genet 3:189-98. 2002
    ..This is the process referred to as reverse genetics. During recent years, some valuable new methods for conducting reverse genetics in Drosophila have been developed...
  81. ncbi Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria
    Lidewij Henneman
    Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Genet Med 4:241-9. 2002
    b>Genetic screening programs should meet certain criteria before they can be introduced into the community...
  82. ncbi Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?
    R L Robinson
    MH Investigation Unit, Academic Unit of Anaesthesia, St James University Hospital, Leeds, LS9 7TF, UK
    Eur J Hum Genet 11:342-8. 2003
    ..The implications for genetic diagnosis are discussed...
  83. ncbi Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia
    Paula M Saukko
    ESRC Centre for Genomics in Society, School of Humanities and Social Sciences, University of Exeter, Exeter, UK
    Soc Sci Med 63:1947-59. 2006
    ..However, the views of the subgroup indicate that some participants interpret thrombophilia as serious and/or need special support...
  84. ncbi Clinical aspects of hemochromatosis
    Jillian O'Neil
    Department of Gastroenterology and Hepatology, The Royal Brisbane and Women s Hospital and the Queensland Institute of Medical Research, Australia
    Semin Liver Dis 25:381-91. 2005
    ..Treatment is by regular phlebotomy which, if instituted before the development of cirrhosis, results in normal life expectancy...
  85. ncbi Initially misleading communication of carrier results after newborn genetic screening
    Alison La Pean
    Neurogenetics Branch, National Institutes of Health National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, USA
    Pediatrics 116:1499-505. 2005
    ....
  86. ncbi Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
    Ana Djarmati
    Schilling Department of Clinical and Molecular Neurogenetics, University of Lubeck, Lubeck, Germany
    Lancet Neurol 8:447-52. 2009
    ..Recently, two mutations in THAP1, the gene that encodes THAP (thanatos-associated protein) domain-containing apoptosis-associated protein 1 (THAP1), have been identified as a cause of DYT6 dystonia...
  87. ncbi Guidance for considering ethical, legal, and social issues in health technology assessment: application to genetic screening
    Beth K Potter
    Department of Epidemiology and Community Medicine, University of Ottawa, 451 Smyth Road, Ottawa, Ontario, Canada
    Int J Technol Assess Health Care 24:412-22. 2008
    ..This discussion may be particularly salient for technologies viewed as ethically complex, such as genetic screening. Here we provide a brief overview of contemporary discussions of the issues from the HTA literature...
  88. pmc Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism
    D Q Ma
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 77:377-88. 2005
    ..These results support the hypothesis that GABA receptor subunit genes are involved in autism, most likely via complex gene-gene interactions...
  89. ncbi [Genetic screening of multiple endocrine neoplasia type 2: experience of the USP Endocrine Genetics Unit]
    Marcelo A C G dos Santos
    Unidade de Endocrinologia Genética, Clinica Medica, Faculdade de Medicina, Universidade de Sao Paulo, SP
    Arq Bras Endocrinol Metabol 50:7-16. 2006
    ..In 50 typical MEN-2 patients analyzed using both methods, we found no false results suggesting that DGGE is a reliable screening method for RET proto-oncogene mutation analysis...
  90. ncbi Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer
    Donald W Hadley
    Genetic Counseling Research Unit, Medical Genetics Branch, National Human Genome Research Institute NIH, 10 Center Drive, MSC 1852, Bldg 10 Room 10 C103, Bethesda, MD 20892 1852, USA
    J Clin Oncol 22:39-44. 2004
    ....
  91. ncbi Problems with genome-wide association studies
    Daniel Shriner
    Science 316:1840-2. 2007
  92. ncbi Gilbert syndrome and the development of antiretroviral therapy-associated hyperbilirubinemia: genetic screening is unnecessary
    Richard E Nettles
    J Infect Dis 193:1611-2; author reply 1611-2. 2006
  93. ncbi [Cost-effectiveness analysis of a genetic screening program in the close relatives of Spanish patients with familial hypercholesterolemia]
    Juan Oliva
    Universidad de Castilla La Mancha, Toledo, Spain
    Rev Esp Cardiol 62:57-65. 2009
    The aim was to assess the cost-effectiveness of a genetic screening program for first-degree relatives of patients with familial hypercholesterolemia (FH), followed by treatment when necessary, compared with the alternative of no ..
  94. ncbi Genetic screening and counseling
    Mary E Norton
    Perinatal Genetic Services, The Permanente Medical Group, San Francisco, California 94115, USA
    Curr Opin Obstet Gynecol 20:157-63. 2008
    ..The past year has also seen important changes in recommendations surrounding the genetic counseling that occurs in the provision of such testing...
  95. ncbi Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel
    Lina Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Eur J Hum Genet 15:250-3. 2007
    ..The subjects tested were healthy women who were invited to undergo the genetic screening test as a part of their routine pregnancy monitoring...
  96. pmc Tailoring communication in consultations with women from high risk breast cancer families
    E A Lobb
    Medical Psychology Research Unit, Department of Psychological Medicine, University of Sydney, Sydney, New South Wales 2006, Australia
    Br J Cancer 87:502-8. 2002
    ..Methods to facilitate assessment of psychological morbidity are needed to allow more tailored communication...
  97. ncbi Similar contributions of BRCA1 and BRCA2 germline mutations to early-onset breast cancer in Germany
    Ute Hamann
    Division of Molecular Genome Analysis, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany
    Eur J Hum Genet 11:464-7. 2003
    ..Given current constraints on health-care resources, these results support the notion that BRCA1 and BRCA2 mutation screening may have the strongest impact on health-care when targeted to high-risk populations...
  98. ncbi Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis
    C Castellani
    Cystic Fibrosis Center, Ospedale Civile Maggiore, Verona, Italy
    Hum Mutat 18:166. 2001
    ..Though it is debatable whether these three individuals can be considered affected by CF, their pancreatitis is possibly a clinical manifestation of some CFTR-related disease. Hum Mutat 18:166, 2001...
  99. ncbi Finnish physicians' interest in genetic screening
    H Toiviainen
    National Research and Development Centre for Welfare and Health (STAKES, Health and Social Services, PO Box 220, FIN-00531 Helsinki (Finland). hanna.toivianentakes.fi
    Community Genet 4:27-35. 2001
    Objectives: To report on Finnish physicians' opinions on the possible future use of genetic screening and their interest in knowing their own risk for diseases...
  100. ncbi Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations
    Henrik Rueffert
    Department of Anaesthesiology and Intensive Care Medicine, University of Leipzig, Leipzig, Germany
    Acta Anaesthesiol Scand 46:692-8. 2002
    ..In this study we examined only those MH susceptible patients for the presence of potential RYR1 mutations who showed strong pathological muscle responses in the in vitro contracture test (IVCT)...
  101. ncbi Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population
    Ruth Kornreich
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Genet Med 6:415-20. 2004
    ..In addition, the CF mutation frequencies in a group of > 7,000 screenees for AJ diseases who were of < 100% AJ descent are reported...

Research Grants77

  1. Variation in M. tuberculosis in response to host selection
    Sarah Fortune; Fiscal Year: 2009
    ..In these studies, we expect to provide fundamental insights into the mechanisms and targets of diversifying immune selection in M. tuberculosis. ..
  2. Viral and Host Determinants of New World Alphaviral Entry
    ASIM AMINSHARIF AHMED; Fiscal Year: 2013
    ..Institute, in the third aim the candidate will identify specific host cell entry factors by high-throughput genetic screening of human cells that have become non-permissive to New World alphaviral pseudotype infection using a shRNA ..
  3. Role of Potent Trophic Factors on Glia and Motor Neurons in ALS
    Brian K Kaspar; Fiscal Year: 2013
    ..Until genetic screening identifies new ALS inducing genes, therapies that could potentially prolong the lives of ALS patients should ..
  4. Protein composition and interactions of telemeric chromatin
    Michael P Killoran; Fiscal Year: 2010
    ..encompasses three aims each employing technically different approaches to accomplish this goal, from genetic screening to monitoring protein interactions in vivo...
  5. Role of formyl peptide receptor variants in mucosal innate immune defense
    HEINI MARITA MIETTINEN; Fiscal Year: 2010
    ..If certain FPR variants are found to be altered or defective in their response to bacterial peptides, future genetic screening may be advantageous for disease prevention as well as diagnosis and treatment...
  6. Determinants of Disease Expression in Arrhythmogenic Cardiomyopathy
    Jeffrey E Saffitz; Fiscal Year: 2010
    ..Well established, highly productive methods for mutagenesis and genetic screening or small molecule screening can be applied to fish embryos to identify in an unbiased, genome-wide approach ..
  7. Genetic Mapping Of Novel Molecular Players in Itch
    RACHEL BETH BREM; Fiscal Year: 2013
    ..In contrast to traditional genetic screening approaches, which are not easily applicable to live-animal phenotypes in the mouse, the genetic mapping ..
  8. The Ethics of Fragile X Genetic Screening and Testing Across the Lifespan
    Kruti Acharya; Fiscal Year: 2012
    ..career goal is to develop an ethical framework to guide both clinicians and policy-makers regarding the genetic screening and testing of behavioral and developmental disorders...
  9. Label-Free Chemical Imaging for Biological Applications
    Wei Min; Fiscal Year: 2012
    ..are applying stimulated radiation to tackle two compelling problems in lipid biology and neurobiology: (1) Genetic screening for fat-regulating genes by chemical imaging...
  10. Long-lived B cell Immunity in the Respiratory Tract
    Nicole Baumgarth; Fiscal Year: 2013
    ..from regional lymph nodes is required for the establishment of lung tissue plasma cell pools, and using genetic screening and a custom microfluidics device, will identify the integrins and chemokines/receptors responsible for the ..
  11. Dissecting the molecular mechanism of metformin action
    Alexander A Soukas; Fiscal Year: 2013
    ..In C. elegans, forward genetic screening enables identification of the most important genes in any given biological response...
  12. Role of Uhrf1 in Liver Development, Regeneration and Carciogenesis
    Chinweike Ukomadu; Fiscal Year: 2013
    ..By forward genetic screening in zebrafish embryos combined with functional studies on liver regeneration in adults and expression ..
  13. Utility of Phosphatidylethanol for Identification of Fetal Alcohol Exposure
    LUDMILA NICOLE BAKHIREVA; Fiscal Year: 2011
    ..PEth will be measured in dried blood spots (DBS) or Guthrie cards collected by heel-prick for routine genetic screening at birth...
  14. Human Pluripotent Stem Cell and Progenitor Models of Cardiac and Blood Diseases
    LEONARD IRA ZON; Fiscal Year: 2013
    ..Aim #3: Investigate methods for gene repair, and pursue chemical and genetic screening to identify novel small molecules and genetic pathways to ameliorate the disease phenotypes in vitro.
  15. Genetic Analysis of the Nucleosome and RNA Polymerase II: A Systems Approach
    Nevan J Krogan; Fiscal Year: 2012
    Project Summary/Abstract We have recently developed a genetic screening approach, termed E-MAP (Epistatic MiniArray Technology Profiling), that can quantify the strength of systematically generated pair-wise genetic interactions...
  16. Identifying New Regulators of Leptin-Like Signaling in Drosophila Brain Neurons
    KAI G ZINN; Fiscal Year: 2013
    ..Drosophila is a model system that is amenable to fast and inexpensive forward genetic screening, and our results suggest that conserved JAK/STAT regulators identified in Drosophila would have relevance ..
  17. Deciphering the Mechanism of Transporters by Design and Experiments
    HYUN JOONG CHO; Fiscal Year: 2013
    ..the corollary of the importance of structural dynamics in transportation, I will use both protein design and genetic screening approaches to generate a transmembrane peptide that allosterically locks the vSGLT or model transporter in ..
  18. Modeling the genetic basis for human congenital heart disease in mice
    Cecilia W Lo; Fiscal Year: 2013
    ..We propose a complementary approach with forward genetic screening with ethylnitrosourea mutagenesis to recover mutations causing CHD...
  19. Understanding the role of PCNA in DNA mismatch repair subpathways
    EVA MARIE GOELLNER; Fiscal Year: 2013
    ..cause dysfunction in either the Exo1-independent or Exo1-dependent sub pathways of MMR by using targeted genetic screening. These mutations will be characterized with functional biochemical and cell biological assays to dissect the ..
  20. Genome-wide analysis identifies genes required for repair of DNA strand breaks
    LYSLE KEVIN LEWIS; Fiscal Year: 2012
    ..Our unique genetic screening approach, employing two large libraries of mutant strains, has identified new genes required for repair of ..
  21. Discovery of the 6p21.3 Reading Disability Gene
    Jeffrey R Gruen; Fiscal Year: 2010
    ..of RD conferred by these genes which should stimulate further studies to lay the groundwork for implementing genetic screening programs for RD...
  22. Evaluation of the in vivo effects of genes regulating Ataxin1 levels in SCA1 mice
    Qiumin Tan; Fiscal Year: 2013
    ..of identifying druggable targets that could safely reduce ATXN1 levels, we developed an integrated forward genetic screening strategy to scan the kinome, in both human cells and fruit flies, for ATXN1-regulating genes and pathways...
  23. Genetic Analysis of Human First Trimester Trophoblast in Ongoing Pregnancies
    Michael Peter Diamond; Fiscal Year: 2013
    ..Single cell approaches adapted from preimplantation genetic screening will identify individual fetal cells in heterogeneous isolates...
  24. MIcroRNA: A Novel Genetic Modifier for Breast Cancer Predisposition
    Hua Zhao; Fiscal Year: 2012
    ..or miRNA responsive elements at 3'UTR of the target genes, which are traditionally overlooked in genetic screening. We propose a study by utilizing valuable resource from Cooperative Familial Registry for Breast Cancer ..
  25. Identification of Salmonella Genes Important for Systemic Colonization
    Helene L Andrews-Polymenis; Fiscal Year: 2012
    ..genome), developed a novel oligonucleotide microarray to assay this collection of mutants, and begun forward genetic screening of this mutant collection both in vitro and in vivo in murine models of systemic colonization...
  26. Study of Energy Homeostasis in a Genetic Model System
    Roger D Cone; Fiscal Year: 2010
    ..Whole genome forward genetic screening for obesity-related mutations in a vertebrate system would be a highly valuable approach since entire ..
  27. Meiotic Chromosome Segregation in C. elegans
    Anne M Villeneuve; Fiscal Year: 2013
    ..of late prophase bivalent architecture that result in reliable chromosome segregation, including a novel genetic screening strategy...
  28. Characterization of Sleep Mutants of Drososphila
    Chiara Cirelli; Fiscal Year: 2009
    ..However, the responsible genes have not been discovered. To identify them, we have initiated a genetic screening for short sleepers in the fruit fly Drosophila melanogaster...
  29. HTS for enhancers of neutrophil function that specifically augment PIP3 signal
    Hongbo R Luo; Fiscal Year: 2012
    ..that specifically target PH domain plasma membrane translocation via conducting a high throughput chemical genetic screening. We have recently established an experimental system for visualizing this process in live cells...
  30. Synthetic Genetic Analysis of the RAM network in C. albicans
    Anuj Kumar; Fiscal Year: 2010
    ..In this project, we have developed a novel large scale genetic screening strategy to identify interactions between pairs of genes that affect hyphal development...
  31. Cellular and Molecular Mechanisms of FUS-related Amyotrophic Lateral Sclerosis
    Udai B Pandey; Fiscal Year: 2013
    ..Following up these observations, we performed an unbiased genetic screening and discovered muscleblind as a novel modifier of mutant FUS toxicity...
  32. Role of apoptosis for regenerative proliferation
    Andreas Bergmann; Fiscal Year: 2013
    ..continue to promote AiP, they produce significant overgrowth phenotypes which provide convenient assays for genetic screening. These screening assays followed by phenotypic characterization of the identified genes will be explored in ..
  33. A new system for mammalian cell genetics using a haploid genomic context
    Thijn Brummelkamp; Fiscal Year: 2010
    ..Here we propose to bypass or alleviate such complications using a novel system allowing efficient genetic screening based on a haploid genomic context...
  34. In Situ Sensing of Single Myosin Function in Hypertrophy Disease
    Thomas P Burghardt; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Genetic screening has detected abundant mutations in sarcomeric proteins elucidating basic causes for disease and identifying targets for individualized medicine when a functional deficit on the ..
  35. RNAi Screen in Air Pollutant-Enhanced Influenza Infection
    Lester Kobzik; Fiscal Year: 2012
    ..We reason that the RNAi functional genetic screening approach could also provide new insights into how air pollution exposures modify susceptibility to influenza...
  36. Developmental Regulation of Collective Cell Migration
    Denise J Montell; Fiscal Year: 2013
    ..Here we propose to build upon this foundation of genetic screening, live imaging, PA proteins and FRET probes, to test iconoclastic hypotheses concerning the relationships ..
  37. Characterization of the Sch9 -Longevity Pathway in Yeast
    Robert C Dickson; Fiscal Year: 2013
    ..for new substrates by classical biochemical strategies, newer automated but complementary strategies, and a genetic screening strategy...
  38. Developmental regulation of neural stem cell elimination
    SARAH ELIZABETH SIEGRIST; Fiscal Year: 2012
    ..Wurmser, all experts in mammalian neural stem cells and neurogenesis, the candidate will gain expertise in genetic screening, using mammalian model systems, and mammalian neural stem cell biology...
  39. Developmental regulation of neural stem cell elimination
    SARAH ELIZABETH SIEGRIST; Fiscal Year: 2013
    ..Wurmser, all experts in mammalian neural stem cells and neurogenesis, the candidate will gain expertise in genetic screening, using mammalian model systems, and mammalian neural stem cell biology...
  40. Development of Germplasm Resources for Preservation of Aquatic Models
    TERRENCE ROBERT TIERSCH; Fiscal Year: 2011
    ..for fish are not standardized, yield inconsistent results, and threaten the efficacy of large-scale genetic screening. For sperm cryopreservation to become a reliable, cost-effective tool for genetic banking of fish, the ..
  41. Communicating Genetic Test Results by Telephone: A Randomized Trial
    Angela R Bradbury; Fiscal Year: 2013
    ..b>Genetic screening for cancer susceptibility is one application of "personalized medicine", which has become standard evidence-..
  42. Exploitation of Near-Haploid Human Cells for Functional Gene Discovery
    MICHAEL BENJAMIN MAJOR; Fiscal Year: 2010
    ..The principle goal of this proposal is to realize a somatic cell genetic screening platform in human cells...
  43. Functional characterization of SSRI resistant genes using C. elegans
    JI Y SZE; Fiscal Year: 2010
    ..The first aim is to identify fluoxetine- resistant genes. We have established a behavioral paradigm for genetic screening for fluoxetine-resistant mutants...
  44. Nutrient regulation of stem cell mediated intestinal renewal in Drosophila
    LUCY ERIN O'BRIEN; Fiscal Year: 2013
    ..fields, the candidate will gain expertise in newer areas of GI physiology, stem cell biology, and genetic screening while pursuing her long-standing interest in epithelial tissue dynamics...
  45. Genetic analyses of axon transport and microtubule dynamics in Zebrafish
    Alex Nechiporuk; Fiscal Year: 2013
    ..The overall objective of this proposal is to use forward genetic screening to find factors that regulate axon transport and microtubule dynamics during development of the vertebrate ..
  46. Development of a computational model for improved diagnostic accuracy of DNA micr
    David A Stahl; Fiscal Year: 2010
    ..Narrative DNA microarrays are an exciting new technology for genetic screening and diagnosis of disease...
  47. Genetics of Salmonella Resistance to the Inflammatory Response in the Gut
    Helene L Andrews Polymenis; Fiscal Year: 2010
    ..We have already confirmed the use of this system for forward genetic screening in animal infection...
  48. Genetic and molecular basis of host resistance to Yersinia pestis.
    RICHARD IAN TAPPING; Fiscal Year: 2013
    ..of this proposal is to determine the genetic basis of resistance of BALB/cJ mice through classical forward genetic screening and fine mapping of the resistance locus called plague resistance locus 1 (prl1)...
  49. Modulation of tumor susceptibility to NK cells induced by JAK family genes
    Roberto Bellucci; Fiscal Year: 2012
    ..We hypothesized that the use of a genetic screening strategy would identify novel pathways that modulate tumor cell susceptibility to the immune system...
  50. Automatic 3D Quantification of Synapse Distribution in Complex Dendritic Arbor
    Jie Zhou; Fiscal Year: 2013
    ..yield complete or robust synapse quantification for the entire dendritic tree and do not scale to efficient genetic screening. The objective of thi project is to bridge this gap by providing tools for quantitative investigation of ..
  51. The Otopathology of Hearing Loss: Genotype-Phenotype Correlation in Human TB
    Fred H Linthicum; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Correlating otopathological analysis with genetic screening for existing syndromic and non-syndromic inner ear diseases is the goal of the House Ear Institute's contribution to the NIDCD's ..
  52. A Rapid-Throughput Feedback Intervention for Population-Scale Communication Quali
    MICHAEL HENRY FARRELL; Fiscal Year: 2010
    ..mechanism to improve communication quality will help to answer bioethicist challenges about the safety of genetic screening, and insure that newborn screening for CF and SCH lead to more good than harm...
  53. Genetic Determinants of Secondary Heart Field Development
    Kathleen Nevis; Fiscal Year: 2013
    ..As a "reverse" approach to forward genetic screening for identifying essential regulators of cardiogenesis, we generated a list of several-hundred transcripts ..
  54. Systematic Vertebrate Functional Genomics
    STEPHEN CARL EKKER; Fiscal Year: 2010
    ..facilitate the assignment of function to the other 80% or more of the genome not discernible using standard genetic screening approaches...
  55. Fluoxetine: Sensitive Ages and Genotypes for Adverse Effects in Juvenile Monkeys
    Mari S Golub; Fiscal Year: 2013
    ..Colony-wide genetic screening at our primate center (CNPRC) allows selection of subgroups of monkeys with low and high activity MAOA gene ..
  56. Drosophila Model for Genetics of Obesity
    KAI G ZINN; Fiscal Year: 2010
    ..of Drosophila as an experimental organism lies not only in its amenability to large scale, fast, and cheap genetic screening, but also in many years of genetic analysis, climaxing with the complete sequence of its genome, which makes ..
  57. Analysis of HSCR patient exome sequence data using Zebrafish
    Iain T Shepherd; Fiscal Year: 2013
    ..This will benefit patients directly when they undergo genetic screening for the condition and will potentially offer scientists new targets for the development of novel therapies ..
  58. Localization of nonsyndromic hearing impairment genes
    SUZANNE MARGARET LEAL; Fiscal Year: 2013
    ..of diagnostic modalities and therapeutic interventions, and additionally aid in early diagnosis through genetic screening. In order to map and refine the interval for novel NSHI loci and NSHI loci with unknown genes, pedigrees ..
  59. Genetics Determinants of Extreme Phenotypes of Subclinical Atherosclerosis
    Tatjana Rundek; Fiscal Year: 2013
    ..for precursors of stroke would lead to early identification of persons at high risk for stroke through genetic screening. These findings would improve stroke prevention, which is of great public health importance.
  60. Exploiting synthetic lethality of hematopoietic lineage cells to develop novel ta
    KYLE RUSSELL BONNEAU; Fiscal Year: 2012
    ..of targeted therapies, we propose in the Phase II studies to concurrently apply genome-wide RNAi-based genetic screening and small molecule library high-throughput (HT) screens to identify lethality genes and cytotoxic small ..
  61. Genetic Analysis of Onset Age of Parkinson's Disease
    Haydeh Payami; Fiscal Year: 2012
    ..b>Genetic screening may be developed to identify at risk individuals for early intervention...
  62. Inhibition of P. gingivalis Biofilm Formation by a Streptococcal Effector Protein
    Carla Cugini; Fiscal Year: 2013
    ..gingivalis through whole genome transcriptional studies, genetic screening, and direct visualization of biofilms using confocal microscopy...
  63. IDENTIFY ANTIGENIC DETERMINANTS OF HUMAN PERIODONTITIS
    YEN TUNG TENG; Fiscal Year: 2001
    ..The specific aims of this proposal are: 1) to identify Aa-antigens involved in LJP using a genetic screening approach, and 2) to assess the periodontal immune responsiveness elicited by the identified Aa-antigens in ..
  64. AUTOMATED DETECTION OF GENE DUPLICATIONS OR DELETIONS
    Fatima Merchant; Fiscal Year: 2005
    ..Our approach is to use readily available DNA probes, followed by automated genetic screening to detect duplications/deletions...
  65. GENETIC PREDISPOSITION TESTING IN COLORECTAL CANCER
    Deborah Schrag; Fiscal Year: 2003
    ..abstract_text> ..
  66. PGD: Couples Decision Making at the Genetic and Reproductive Interface
    Patricia Hershberger; Fiscal Year: 2009
    ..This relatively new form of genetic screening circumvents conventional forms of prenatal diagnosis by identifying genetic disorders or chromosomal ..
  67. Genetic Basis of Myeloid Neoplasia--Mutagenesis Screens
    A Look; Fiscal Year: 2005
    Forward genetic screening in the zebrafish affords an unparalleled opportunity to discover genes required in human blood cell development, and whose alteration can lead to premalignant states or overt leukemia...
  68. PTHRP 1 to 173 IN CHONDROCYTES
    Robert Terkeltaub; Fiscal Year: 2005
    ..and immunochemical approaches to characterize PTHrP 1-173 derived peptides in cultured chondrocytes and a genetic screening approach for cleavage site-specific endoproteases...
  69. Cost-effectiveness of genetic screening for colon cancer
    Sandeep Vijan; Fiscal Year: 2006
    ..Among the most promising of these is the use of genetic markers. Two major types of genetic screening have been proposed and evaluated in early studies...
  70. HEREDITARY DEFECTS IN HUMAN SODIUM CHANNELS
    ALFRED GEORGE; Fiscal Year: 2009
    ..In Specific Aim 1, we propose to perform molecular genetic screening in a large cohort of families segregating seizure phenotypes consistent with generalized epilepsy with ..
  71. Neuroblastoma Tumor Suppressor Genes in Zebrafish
    A Look; Fiscal Year: 2007
    Forward genetic screening in the zebrafish affords an unparalleled opportunity to discover previously elusive tumor suppressor genes whose alteration leads to disruption of the developing peripheral sympathetic nervous system (PSNS) and ..
  72. Molecular Diagnosis of Dyslexia
    Seiyu Hosono; Fiscal Year: 2007
    ..hypothesize that children at risk for RD could be identified early - when intervention is most useful - by genetic screening for RD alleles from these three genes; and, that an accurate cost-effective genetic screening tool would ..
  73. HUMAN GENOME WORKSHOP--ETHICS, LAW AND SOCIAL POLICY
    Sherman Elias; Fiscal Year: 1990
    ..Humanism, Eugenics, and the Human Genome; II. Genetic Screening and Counseling - How the Genome Initiative Will Affect Legal and Ethical Issues; III...
  74. MULTI-ANALYTE WAVEGUIDE IMMUNOSENSING
    JAMES HERRON; Fiscal Year: 2002
    ..optical waveguides (IOWs) to develop evanescent wave biosensors for applications in high throughput genetic screening. In particular, the applicants plan to develop nucleic acid hybridization assays (also know as "molecular ..
  75. AUTOMATED DETECTION OF GENE DUPLICATIONS OR DELETIONS
    Fatima Merchant; Fiscal Year: 2000
    ..Our approach is to use readily available DNA probes, followed by automated genetic screening to detect duplications/deletions...
  76. PRESCRIPTIVE DECISION MODELING/CYSTIC FIBROSIS SCREEN
    David Asch; Fiscal Year: 1992
    The goal of this project is to guide the development of health policy regarding the optimal use of genetic screening tests designed to detect carriers of cystic fibrosis (CF)...
  77. GENETIC HETEROGENEITY IN HOMOCYSTEINE REMETHYLATION
    Barry Shane; Fiscal Year: 2000
    ..Simple genetic screening tests will be developed for any polymorphisms associated with hyperhomocysteinemia...