Genomes and Genes
inborn genetic diseases
Summary: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Publications292 found, 100 shown here
- The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequencesM Krawczak
Abteilung Humangenetik, Medizinische Hochschule, Hannover, Federal Republic of Germany
Hum Genet 90:41-54. 1992....
- A new web-based data mining tool for the identification of candidate genes for human genetic disordersMarc A van Driel
Centre for Molecular and Biomolecular Informatics, University of Nijmegen, The Netherlands
Eur J Hum Genet 11:57-63. 2003..We are currently expanding the tool by adding other databases. The GeneSeeker is available via the web-interface (http://www.cmbi.kun.nl/GeneSeeker/)...
- Initial sequencing and analysis of the human genomeE S Lander
Whitehead Institute for Biomedical Research, Center for Genome Research, Cambridge, Massachusetts 02142, USA
Nature 409:860-921. 2001..We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence...
- Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disordersAda Hamosh
Nucleic Acids Res 33:D514-7. 2005..OMIM is an easy and straightforward portal to the burgeoning information in human genetics...
- The genetic association databaseKevin G Becker
Nat Genet 36:431-2. 2004
- Predicting deleterious amino acid substitutionsP C Ng
Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
Genome Res 11:863-74. 2001..may be used to identify plausible disease candidates among the SNPs that cause missense substitutions...
- Association mapping in structured populationsJ K Pritchard
Department of Statistics, University of Oxford, United Kingdom
Am J Hum Genet 67:170-81. 2000..It provides power comparable with the TDT in many settings and may substantially outperform it if there are conflicting associations in different subpopulations...
- Are rare variants responsible for susceptibility to complex diseases?J K Pritchard
Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, United Kingdom
Am J Hum Genet 69:124-37. 2001..I discuss some practical implications of these results for gene mapping efforts...
- Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex diseaseDavid Botstein
Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
Nat Genet 33:228-37. 2003....
- The modular nature of genetic diseasesM Oti
Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, The Netherlands
Clin Genet 71:1-11. 2007....
- SNPs, protein structure, and diseaseZ Wang
Center for Advanced Research in Biotechnology, University of Maryland Biotechnology Institute, Rockville, Maryland 20850, USA
Hum Mutat 17:263-70. 2001..In sharp contrast, over 70% of the population set are found to be neutral. The remaining 30% are potentially involved in polygenic disease...
- Population history and its impact on medical genetics in QuebecA M Laberge
Service de Genetique Medicale, Hopital Ste Justine, Montreal, Quebec, Canada
Clin Genet 68:287-301. 2005..Three genetic diseases of Quebec First Nations children are also discussed: Cree encephalitis (MIM 608505), Cree leukoencephalopathy (MIM 603896) and North American Indian childhood cirrhosis (MIM 604901)...
- Loss of protein structure stability as a major causative factor in monogenic diseasePeng Yue
Center for Advanced Research in Biotechnology, University of Maryland Biotechnology Institute, Rockville, MD 20850, USA
J Mol Biol 353:459-73. 2005..The method's effective distinction between disease and non-disease variants, strongly supports the hypothesis that loss of protein stability is a major factor contributing to monogenic disease...
- PTC124 targets genetic disorders caused by nonsense mutationsEllen M Welch
PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Nature 447:87-91. 2007....
- Gene finding in genetically isolated populationsPeter Heutink
Institute of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
Hum Mol Genet 11:2507-15. 2002..There remains much controversy and theoretical debate over the feasibility and advantages of such populations, but recent results speak in favor of the feasibility of this approach, and will be reviewed here...
- Correction of disease-associated exon skipping by synthetic exon-specific activatorsLuca Cartegni
Cold Spring Harbor Laboratory, New York 11724, USA
Nat Struct Biol 10:120-5. 2003..This general approach can be used as a tool to investigate splicing mechanisms and modulate alternative splicing of specific genes, and as a therapeutic strategy to correct splicing defects responsible for numerous diseases...
- Time for a unified system of mutation description and reporting: a review of locus-specific mutation databasesMireille Claustres
Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, Fitzroy VIC 3065, Australia
Genome Res 12:680-8. 2002..We hope the interested community and granting bodies will assist in achieving the vision of a public system that collects and displays all variants discovered...
- Human genetics: lessons from Quebec populationsC R Scriver
Departments of Human Genetics, Pediatrics, and Biology, McGill University, Montreal, Quebec, Canada
Annu Rev Genomics Hum Genet 2:69-101. 2001..How the population benefits from what is being learned about its structure and how its uniqueness could facilitate construction of a genomic map of linkage disequilibrium are discussed...
- Association study designs for complex diseasesL R Cardon
University of Oxford, Nuffield Department of Clinical Medicine, Headington, Oxford OX3 9DU, UK
Nat Rev Genet 2:91-9. 2001..Now is the time to consider critically the design of such studies, to avoid the mistakes of the past and to maximize their potential to identify new components of disease...
- Monogenic obesity in humansI Sadaf Farooqi
Departments of Medicine and Clinical Biochemistry, Cambridge University, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
Annu Rev Med 56:443-58. 2005..Practical implications of these findings for genetic counseling, prognostication, and even therapy have already emerged...
- Recent segmental duplications in the human genomeJeffrey A Bailey
Department of Genetics, Center for Computational Genomics, and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA
Science 297:1003-7. 2002..Our analysis indicates a highly nonrandom chromosomal and genic distribution of recent segmental duplications, with a likely role in expanding protein diversity...
- Linkage disequilibrium in the human genomeD E Reich
Whitehead Institute MIT Center for Genome Research, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA
Nature 411:199-204. 2001..By contrast, LD in a Nigerian population extends markedly less far. The results illuminate human history, suggesting that LD in northern Europeans is shaped by a marked demographic event about 27,000-53,000 years ago...
- SNAP: predict effect of non-synonymous polymorphisms on functionYana Bromberg
Department of Biochemistry and Molecular Biophysics, Columbia University, 630 West 168th St, New York, NY 10032, USA
Nucleic Acids Res 35:3823-35. 2007..This measure will allow users to focus on the most accurate predictions and/or the most severe effects. Available at http://www.rostlab.org/services/SNAP...
- Decanalization and the origin of complex diseaseGreg Gibson
School of Integrative Biology, Goddard Building, St Lucia Campus, University of Queensland, Brisbane, Queensland 4072, Australia
Nat Rev Genet 10:134-40. 2009..The rapid evolution of the human genome combined with marked environmental and cultural perturbation in the past two generations might lead to the uncovering of cryptic genetic variation that is a major source of disease susceptibility...
- The functional importance of disease-associated mutationSean D Mooney
Department of Genetics and Stanford Medical Informatics Division, Stanford University, Stanford, California, 94305, USA
BMC Bioinformatics 3:24. 2002..Here we show that disease-associated mutations occur in regions of genes that are conserved, and can identify likely disease-causing mutations...
- A comprehensive review of genetic association studiesJoel N Hirschhorn
Whitehead Institute MIT Center for Genome Research, Cambridge, MA 02139, USA
Genet Med 4:45-61. 2002..In particular, we emphasize the need for caution in drawing conclusions from a single report of an association between a genetic variant and disease susceptibility...
- A systematic analysis of human disease-associated gene sequences in Drosophila melanogasterL T Reiter
Section of Cell and Developmental Biology, University of California San Diego, La Jolla, California 92093-0349, USA
Genome Res 11:1114-25. 2001..The Homophila database is available at http://homophila.sdsc.edu...
- Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure propertiesCarles Ferrer-Costa
Departament de Bioquimica i Biologia Molecular, Facultat de Quimica, Universitat de Barcelona, Spain
J Mol Biol 315:771-86. 2002..Interestingly, use of evolutionary information from multiple sequence alignments can be used to increase our knowledge of disease-associated mutations...
- Genetics, statistics and human disease: analytical retooling for complexityTricia A Thornton-Wells
Neuroscience Graduate Program, Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, TN 37240, USA
Trends Genet 20:640-7. 2004..Finally, we propose a comprehensive two-step approach to analysis that systemically addresses the different genetic factors that are likely to underlie complex diseases...
- Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibriumChristopher S Carlson
Department of Genome Sciences, University of Washington, Seattle, WA, 98195, USA
Am J Hum Genet 74:106-20. 2004..We demonstrate that, although common variation tends to be shared between populations, tagSNPs should be selected separately for populations with different ancestries...
- Quantifying the intragenic distribution of human disease mutationsM P Miller
School of Life Sciences, Arizona State University, Tempe, Arizona 85287 4501, USA
Ann Hum Genet 67:567-79. 2003....
- When the message goes awry: disease-producing mutations that influence mRNA content and performanceJ T Mendell
Howard Hughes Medical Institute, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA
Cell 107:411-4. 2001..However, many diseases result from mutations that influence various aspects of mRNA metabolism, including processing, export, stability, and translational control...
- Bioinformatics tools for single nucleotide polymorphism discovery and analysisRobert J Clifford
Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA
Ann N Y Acad Sci 1020:101-9. 2004..These tools allow researchers to retrieve data about SNPs based on gene of interest, genetic or physical map location, or expression pattern...
- Prediction of human disease genes by human-mouse conserved coexpression analysisUgo Ala
Molecular Biotechnology Center, Department of Genetics, Biology and Biochemistry, University of Turin, Turin, Italy
PLoS Comput Biol 4:e1000043. 2008..However, so far, gene coexpression has not been used very successfully to prioritize positional candidates...
- Elevated rates of protein secretion, evolution, and disease among tissue-specific genesEitan E Winter
MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK
Genome Res 14:54-61. 2004..These findings illuminate major selective pressures that have shaped the gene repertoires expressed in different mammalian tissues...
- The amino-acid mutational spectrum of human genetic diseaseDennis Vitkup
Lipper Center for Computational Genetics and Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
Genome Biol 4:R72. 2003..We compare the disease spectrum to the spectra of mutual amino-acid mutation frequencies, non-disease polymorphisms in human genes, and substitutions fixed between species...
- Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disordersAda Hamosh
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N Wolfe Street, Blalock 1007, Baltimore, MD 21287 4922, USA
Nucleic Acids Res 30:52-5. 2002..OMIM is an easy and straightforward portal to the burgeoning information in human genetics...
- Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseasesB J Blencowe
Dept of Medical Research, C H Best Institute, University of Toronto, 112 College St, Toronto, Ontario, Canada M5G 1L6
Trends Biochem Sci 25:106-10. 2000..Ominously, these latter studies predict that many human genetic diseases linked to mutations within exons might be caused by the inactivation of ESEs...
- The CpG dinucleotide and human genetic diseaseD N Cooper
Haematology Department, King s College School of Medicine and Dentistry, London, UK
Hum Genet 78:151-5. 1988..These findings are consistent with methylation-induced deamination of 5-methyl cytosine and suggest that methylation of DNA within coding regions may contribute significantly to the incidence of human genetic disease...
- Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomesHui Huang
Department of Bioinformatics, Genome Therapeutics Corporation, Waltham, MA 02453, USA
Genome Biol 5:R47. 2004..Here, we investigate whether human disease genes differ significantly from their rodent orthologs with respect to their overall levels of conservation and their rates of evolutionary change...
- Linkage disequilibrium mapping of complex disease: fantasy or reality?J D Terwilliger
Columbia University Department of Psychiatry Columbia and Genome Center 60, Haven Avenue 15 C New York NY 10032 USA joseph
Curr Opin Biotechnol 9:578-94. 1998....
- JSNP: a database of common gene variations in the Japanese populationMika Hirakawa
Bioinformatics Division, Japan Science and Technology Corporation JST, 5 3 Yonban cho, Chiyoda ku, Tokyo 102 0081, Japan
Nucleic Acids Res 30:158-62. 2002..Unrestricted access to JSNP and any associated files is available at http://snp.ims.u-tokyo.ac.jp/...
- GeneTests-GeneClinics: genetic testing information for a growing audienceRoberta A Pagon
University of Washington, Seattle, Washington, USA
Hum Mutat 19:501-9. 2002..The use of these combined resources has grown to approximately 3,200 visits/day...
- Segmental duplications: an 'expanding' role in genomic instability and diseaseB S Emanuel
Division of Human Genetics and Molecular Biology, 1002 Abramson Research Center, The Children s Hospital of Philadelphia, 3516 Civic Center Blvd, Philadelphia, Pennsylvania 19104, USA
Nat Rev Genet 2:791-800. 2001..These observations bring us closer to understanding the mechanisms and consequences of genomic rearrangement...
- A human phenome-interactome network of protein complexes implicated in genetic disordersKasper Lage
Center for Biological Sequence Analysis, BioCentrum DTU, Technical University of Denmark, Building 208, DK 2800 Lyngby, Denmark
Nat Biotechnol 25:309-16. 2007..Our publicly available draft of protein complexes associated with pathology comprises 506 complexes, which reveal functional relationships between disease-promoting genes that will inform future experimentation...
- Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genesLude Franke
Complex Genetics Section, Department of Biomedical Genetics Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
Am J Hum Genet 78:1011-25. 2006..This suggests that our method can significantly reduce the cost and effort of pinpointing true disease genes in analyses of disorders for which numerous loci have been reported but for which most of the genes are unknown...
- Genetic variation in an individual human exomePauline C Ng
J Craig Venter Institute, Rockville, Maryland, United States of America
PLoS Genet 4:e1000160. 2008..We present an approach to analyze the coding variation in humans by proposing multiple bioinformatic methods to hone in on possible functional variation...
- Linkage disequilibrium and the search for complex disease genesL B Jorde
Eccles Institute of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
Genome Res 10:1435-44. 2000
- The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidenceJ D Cleary
Program of Genetics and Genomic Biology, The Hospital for Sick Children, and Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada
Cytogenet Genome Res 100:25-55. 2003....
- Mendelian disorders deserve more attentionStylianos E Antonarakis
Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospital of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
Nat Rev Genet 7:277-82. 2006..The quest for the genetic variability associated with common traits should not be done at the expense of Mendelian disorders, because the latter could still contribute greatly to understanding the aetiology of complex traits...
- Hereditary deafness and phenotyping in humansMaria Bitner-Glindzicz
Unit of Clinical and Molecular Genetics, Institute of Child Health, London, UK
Br Med Bull 63:73-94. 2002..Continued clinical evaluation of types and course of hearing loss and correlation with genotype is important for the intelligent application of molecular testing in the next few years...
- Are splicing mutations the most frequent cause of hereditary disease?Nuria Lopez-Bigas
Computational Genomics Group, The European Bioinformatics Institute, EMBL Cambridge Outstation, Cambridge CB10 1SD, UK
FEBS Lett 579:1900-3. 2005..This approach takes into account the complete set of genes known to be involved in disease and suggest that, contrary to current assumptions, many mutations causing disease may actually be affecting the splicing pattern of the genes...
- Biased exon/intron distribution of cryptic and de novo 3' splice sitesJana Kralovicova
University of Southampton School of Medicine, Division of Human Genetics Southampton SO16 6YD, UK
Nucleic Acids Res 33:4882-98. 2005....
- PedCheck: a program for identification of genotype incompatibilities in linkage analysisJ R O'Connell
Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA
Am J Hum Genet 63:259-66. 1998..We use various real data sets to illustrate the power and effectiveness of our program...
- Highly consistent patterns for inherited human diseases at the molecular levelNuria Lopez-Bigas
Genome Bioinformatics Laboratory, Center for Genomic Regulation, Universitat Pompeu Fabra, Pg Maritim de la Barceloneta 37 49, E 08003, Barcelona, Spain
Bioinformatics 22:269-77. 2006..The results further indicate that a comparative genomics approach for the analysis of genes linked to human genetic diseases will facilitate the elucidation of the underlying molecular and cellular mechanisms...
- A similarity-based method for genome-wide prediction of disease-relevant human genesJ Freudenberg
Institute of Human Genetics, Bonn University Hospital, Germany
Bioinformatics 18:S110-5. 2002..Potential disease genes from the human genome are scored by their functional similarity to known disease genes in these clusters, which are phenotypically similar to the query disease...
- Stops along the RAS pathway in human genetic diseaseMohamed Bentires-Alj
Nat Med 12:283-5. 2006
- Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genomeSankar Subramanian
Center for Evolutionary Functional Genomics, The Biodesign Institute and School of Life Sciences, Arizona State University, Tempe, Arizona 85287 5301, USA
BMC Genomics 7:306. 2006..We compare these patterns with 5,308 non-synonymous Single Nucleotide Polymorphisms (nSNPs) in 2,592 genes from primary SNP resources...
- The human gene mutation databaseD N Cooper
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK
Nucleic Acids Res 26:285-7. 1998..Being both comprehensive and fully integrated into the existing bioinformatics structures relevant to human genetics, HGMD has established itself as the central core database of inherited human gene mutations...
- Haplotype sharing analysis using mantel statisticsL Beckmann
German Cancer Research Center DKFZ, DE 69120 Heidelberg, Germany
Hum Hered 59:67-78. 2005..We present a new approach based on Mantel statistics for spacetime clustering, which is developed in order to improve the power of haplotype sharing analysis for gene mapping in complex disease...
- Genatlas database, genes and development defectsJ Frezal
Service de Genetique Medicale, Hopital des Enfants Malades, Paris, France
C R Acad Sci III 321:805-17. 1998..These studies shed light on the mechanisms of congenital malformations. They disclose a large array of genetic and phenotypic heterogeneity and a high degree of complexity...
- Speeding disease gene discovery by sequence based candidate prioritizationEuan A Adie
Medical Genetics Section, Department of Medical Sciences, The University of Edinburgh, Edinburgh, UK
BMC Bioinformatics 6:55. 2005..However, here we show that disease genes share patterns of sequence-based features that can provide a good basis for automatic prioritization of candidates by machine learning...
- Mapping genes that underlie ethnic differences in disease risk: methods for detecting linkage in admixed populations, by conditioning on parental admixtureP M McKeigue
Epidemiology Unit, London School of Hygiene and Tropical Medicine, London, United Kingdom
Am J Hum Genet 63:241-51. 1998..Sets of such markers could be selected from libraries of single-nucleotide polymorphisms, when these become available...
- A community genetics perspective on consanguineous marriageA H Bittles
Edith Cowan University, Centre for Comparative Genomics, Murdoch University, Perth, WA 6150, Australia
Community Genet 11:324-30. 2008..The need for comprehensive and more balanced investigations into all aspects of consanguineous marriage is pressing and merits a substantial international collaborative research effort...
- The splicing machinery is a genetic modifier of disease severityMalka Nissim-Rafinia
Department of Genetics, The Life Sciences Institute, The Hebrew University, Jerusalem, Israel
Trends Genet 21:480-3. 2005..Importantly, modulation of the splicing pattern led to regulation of the protein function and modification of disease severity...
- Genome-wide identification of genes likely to be involved in human genetic diseaseNuria Lopez-Bigas
Computational Genomics Group, The European Bioinformatics Institute, EMBL Cambridge Outstation, Cambridge CB10 1SD, UK
Nucleic Acids Res 32:3108-14. 2004..The probability score assignments for the human genome are accessible at http://maine.ebi. ac.uk:8000/services/dgp...
- A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventionsA Cecile J W Janssens
Department of Public Health, Erasmus MC University Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
Am J Hum Genet 82:593-9. 2008..There is insufficient scientific evidence to conclude that genomic profiles are useful in measuring genetic risk for common diseases or in developing personalized diet and lifestyle recommendations for disease prevention...
- The "duty to warn" a patient's family members about hereditary disease risksKenneth Offit
Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
JAMA 292:1469-73. 2004....
- Online Mendelian Inheritance in Animals (OMIA): a comparative knowledgebase of genetic disorders and other familial traits in non-laboratory animalsFrank W Nicholas
Centre for Advanced Technologies in Animal Genetics and Reproduction REPROGEN, Faculty of Veterinary Science, University of Sydney, NSW 2006, Australia
Nucleic Acids Res 31:275-7. 2003..Because its whole structure is based on comparative biology, it provides phenotypic information in a format that is complementary to all the relevant mapping and sequence databases now existing or being created across the animal kingdom...
- Contribution of malformations and genetic disorders to mortality in a children's hospitalDavid A Stevenson
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 126:393-7. 2004..This information emphasizes the importance of further study of whether or not early recognition influences mortality rate and management...
- The burden of genetic disease on inpatient care in a children's hospitalShawn E McCandless
Department of Genetics, Case Western Reserve University, Cleveland, OH, 44106, USA
Am J Hum Genet 74:121-7. 2004..Additional study and frank public discourse are needed to understand the implications on the future health care workforce and on the utilization of health care resources...
- Genetic medicines: treatment strategies for hereditary disordersTimothy P O'Connor
Department of Genetic Medicine, Weill Medical College of Cornell University, 515 East 71st Street, S 1000, New York 10021, USA
Nat Rev Genet 7:261-76. 2006....
- Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genesM Krawczak
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, United Kingdom
Am J Hum Genet 63:474-88. 1998....
- Yeast, flies, worms, and fish in the study of human diseaseIswar K Hariharan
Massachusetts General Hospital Cancer Center, Charlestown, Mass, and Harvard Medical School, Boston, USA
N Engl J Med 348:2457-63. 2003
- An Icelandic example of the impact of population structure on association studiesAgnar Helgason
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 37:90-5. 2005..Our results indicate that sampling strategies need to take account of substructure even in a relatively homogenous genetic isolate. This will probably be even more important in larger populations...
- Further understanding human disease genes by comparing with housekeeping genes and other genesZhidong Tu
Molecular and Computational Biology Program, University of Southern California, Los Angeles, California 90089, USA
BMC Genomics 7:31. 2006..Here we perform a comparative study on the features of human essential, disease, and other genes...
- G2D: a tool for mining genes associated with diseaseCarolina Perez-Iratxeta
Ontario Genomics Innovation Centre, Ottawa Health Research Institute, ON K1H 8L6, Ottawa, Canada
BMC Genet 6:45. 2005..We previously developed an algorithm to prioritize genes on a chromosomal region according to their possible relation to an inherited disease using a combination of data mining on biomedical databases and gene sequence analysis...
- GFINDer: genetic disease and phenotype location statistical analysis and mining of dynamically annotated gene listsMarco Masseroli
BioMedical Informatics Laboratory, Bioengineering Department Politecnico di Milano, I 20133 Milano, Italy
Nucleic Acids Res 33:W717-23. 2005..GFINDer is available for non-profit use at http://www.bioinformatics.polimi.it/GFINDer/...
- New perspectives for the elucidation of genetic disordersHans Hilger Ropers
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 81:199-207. 2007..Because of the introduction of novel high-throughput, low-cost sequencing methods, sequencing and genotyping will soon converge, with far-reaching implications for the elucidation of genetic disease and health care...
- Making antisense of splicingMariano A Garcia-Blanco
Duke University Medical Center, Department of Molecular Genetics and Microbiology, Center for RNA Biology, Durham, NC 27710, USA
Curr Opin Mol Ther 7:476-82. 2005..Preliminary, but exciting, results suggest that these reagents could have clinical utility in treating previously intractable conditions...
- OrthoDisease: a database of human disease orthologsKevin P O'Brien
Center for Genomics and Bioinformatics, Karolinska Institutet, Stockholm, Sweden
Hum Mutat 24:112-9. 2004..cgb.ki.se, and can be searched with disease or protein names. The web interface presents all ortholog clusters that include a selected disease gene. A capability to download the entire dataset is also provided...
- Disease gene mapping in isolated human populations: the example of FinlandA de la Chapelle
Department of Medical Genetics, University of Helsinki, Finland
J Med Genet 30:857-65. 1993
- Approaches to identify genes for complex human diseases: lessons from Mendelian disordersMichael Dean
Laboratory of Genomic Diversity, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
Hum Mutat 22:261-74. 2003..Improved analytical tools, phenotypic characterizations, and functional analyses will enable complete understanding of the genetic basis of complex diseases...
- Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic populationGeorge P Patrinos
Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
Hum Mutat 25:327-33. 2005..Creation of the Hellenic National Mutation database will significantly facilitate molecular diagnosis of inherited disorders in Greece and will motivate further investigation of yet unknown genetic diseases in the Hellenic population...
- Teaching molecular genetics: chapter 2-Transgenesis and gene targeting: mouse models to study gene function and expressionNanna Claij
Department of Human Genetics of the Center for Human and Clinical Genetics, Leiden University Medical Center, Sylvius Laboratory, The Netherlands
Pediatr Nephrol 21:318-23. 2006..For a variety of human diseases these genetically modified mice are very informative model systems...
- GeneSeeker: extraction and integration of human disease-related information from web-based genetic databasesM A van Driel
Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen, PO Box 9010, 6500GL Nijmegen, The Netherlands
Nucleic Acids Res 33:W758-61. 2005..GeneSeeker is particularly well suited for syndromes in which the disease gene displays altered expression patterns in the affected tissue(s)...
- TOM: a web-based integrated approach for identification of candidate disease genesSimona Rossi
Functional Genomics Laboratory and Telethon Facility, DAMA Data Mining for Analysis of DNA Microarrays, Dipartimento di Morfologia ed Embriologia, Via Fossato di Mortara 64b, 44100 Ferrara, Italy
Nucleic Acids Res 34:W285-92. 2006..We present here the tool and the results obtained on known benchmark and on hereditary predisposition to familial thyroid cancer. Our algorithm is available at http://www-micrel.deis.unibo.it/~tom/...
- Defective splicing, disease and therapy: searching for master checkpoints in exon definitionEmanuele Buratti
International Centre for Genetic Engineering and Biotechnology ICGEB, Padriciano 99, 34012 Trieste, Italy
Nucleic Acids Res 34:3494-510. 2006..In the final part, we shall then discuss possible therapeutic targets and strategies to rescue genetic defects of complex splicing systems...
- Human disease genesG Jimenez-Sanchez
Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Nature 409:853-5. 2001....
- Canine genetics comes of ageE A Ostrander
Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N, D4 100, Seattle, WA 98109 1024, USA
Trends Genet 16:117-24. 2000..We will review the current state of the map and discuss the particular disease states in which canines stand to make the greatest contribution to medical genetics...
- Protein-protein interactions and disease: use of S. cerevisiae as a model systemWei Tse Hsu
School of Biotechnology and Biomolecular Science, University of New South Wales, NSW 2052, Australia
Biochim Biophys Acta 1774:838-47. 2007..This will help researchers experimentally test the impact of mutations on protein-protein interactions in S. cerevisiae and, by homology, explore the role of such mutations in the genesis of human disease...
- Genetic ignorance, moral obligations and social dutiesT Takala
University of Turku, Finland
J Med Philos 25:107-13; discussion 114-20. 2000..Our own conclusion, based on the Millian way of thinking, is that individuals probably do have the right to remain in ignorance in the cases Professor Rhodes presents as examples of a duty to know...
- Genetic testing for late-onset diseases: effect of disease controllability, test predictivity, and gender on the decision to take the testSivia Barnoy
Nursing Department, School of Health Professions, Tel Aviv University, Tel Aviv, Israel
Genet Test 11:187-92. 2007..The data show a marked gap between the decision itself and the certainty of that decision. The strength of the decision may be a better predictor of actual test uptake than the direction of the decision...
- Community genetics: a new discipline and its application in BrazilA S Ramalho
Departamento de Genética Médica, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, C P 6111, Campinas, SP 13081 970, Brasil
Cad Saude Publica 16:261-3. 2000..This article discusses various cultural, social, psychological, and economic factors that can make genetic screening an invasion of individual privacy...
- Genome architecture, rearrangements and genomic disordersPaweł Stankiewicz
Dept Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 3498, USA
Trends Genet 18:74-82. 2002..Moreover, it has been suggested that higher order genomic architecture involving LCRs plays a significant role in karyotypic evolution accompanying primate speciation...
- Rat Genome Database (RGD): mapping disease onto the genomeSimon Twigger
Bioinformatics Research Center and Human and Molecular Genetics Center, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
Nucleic Acids Res 30:125-8. 2002..Thus, RGD is not only a valuable resource for those working with the rat but also for researchers in other model organisms wishing to harness the existing genetic and physiological data available in the rat to complement their own work...
- Association of genes to genetically inherited diseases using data miningCarolina Perez-Iratxeta
European Molecular Biology Laboratory, Meyerhofstr 1, Heidelberg 69012, Germany
Nat Genet 31:316-9. 2002..The scoring also indicates that for some diseases, the chance of identifying the underlying gene is higher...
- Homophila: human disease gene cognates in DrosophilaSamson Chien
San Diego Supercomputer Center and Department of Biology, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0349, USA
Nucleic Acids Res 30:149-51. 2002..Homophila is a relational database that allows searching based on human disease descriptions, OMIM number, human or fly gene names, and sequence similarity, and can be accessed at http://homophila.sdsc.edu...
- Tests and estimates of allelic association in complex inheritanceN E Morton
Human Genetics, University of Southampton, Level G, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, United Kingdom
Proc Natl Acad Sci U S A 95:11389-93. 1998..Isolated cases favor unrelated controls, and only in exceptional populations would avoidance of stratification justify a family-based design to map disease genes by allelic association...
- Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traitsJ R Lupski
Department of Molecular and Human Genetics, Texas Children s Hospital, Baylor College of Medicine, Houston 77030, USA
Trends Genet 14:417-22. 1998..This genome architecture provides substrates for homologous recombination between nonsyntenic regions of chromosomes. Such events can result in DNA rearrangements that cause disease...
- Molecular mechanisms for genomic disordersKen Inoue
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Annu Rev Genomics Hum Genet 3:199-242. 2002..The human genome sequence project reveals that LCRs may account for 5% of the genome, suggesting that many novel genomic disorders might still remain to be recognized...
- Twenty-second Annual Fanconi Anemia Research Fund Scientific SymposiumGROVER CARLTON BAGBY; Fiscal Year: 2010..Its relatively small scale and concentrated focus promotes interaction and collaboration between participants across the globe. The meeting provides an excellent training environment for junior investigators and trainees. ..
- 24th Annual Fanconi Anemia Research Fund Scientific SymposiumGROVER CARLTON BAGBY; Fiscal Year: 2012..Acquired abnormalities of FA genes and FA gene expression have been reported in patients with sporadic malignancies of plasma cells, leukemia, head and neck cancer, lung cancer, and ovarian cancer. ..
- Understanding thyroid hormone regulation of neurogenesis in the cochleaMirna Mustapha; Fiscal Year: 2013..Basic information about the molecular genetics and hormonal regulation of cochlear innervation will emerge from these studies, potentially informing efforts at improving innervation of regenerating hair cells. ..
- Misregulation of receptor tyrosine kinase signaling in PKDJordan A Kreidberg; Fiscal Year: 2013..Failure to ubquitinate c-Met is due to sequestration of the E3 ubiquitin ligase c-Cbl by 31 integrin in the Golgi apparatus. This grant will investigate the roles of c-Cbl, c-Met and protein glycosylation in the pathogenesis of PKD. ..
- Twenty-first Annual Fanconi Anemia Research Fund Scientific SymposiumGrover Bagby; Fiscal Year: 2009..Acquired abnormalities of FA genes and FA gene expression have been reported in patients with sporadic malignancies of plasma cells, leukemia, head and neck cancer, lung cancer, and ovarian cancer. ..
- Lentiviral-transduced hematopoictic stem cell transplantation for cystinosisStephanie Cherqui; Fiscal Year: 2013..As pre-clinical studies, we will use the mouse model for cystinosis that accumulates cystine in all the tissues and develops similar defects to those of the human children. ..
- Myosin 15:Genetics, Pathology and Therapeutic PotentialSally A Camper; Fiscal Year: 2013..This team will enable us to exploit the animal models fully to understand the mechanisms of inner ear disease and has the potential to identify novel genes essential for normal hearing. ..
- Divalent metal-ion transporter DMT1 and its role in intestinal metal-ion uptakeBryan Mackenzie; Fiscal Year: 2012..In this project we will study iron and cadmium transport via DMT1 at the molecular level to drive development of new strategies to improve iron nutrition and prevent the toxic effects of cadmium or iron overload. ..
- 23rd Annual Fanconi Anemia Research Fund Scientific SymposiumGROVER CARLTON BAGBY; Fiscal Year: 2011..This application seeks partial support for this meeting, scheduled to be held in Barcelona, Spain in October 2011. ..
- Kidney-targeted gene delivery for cystinosisStephanie Cherqui; Fiscal Year: 2012..It also represents a proof of concept for a kidney-specific therapy for other hereditary nephropathies. ..
- Pharmacological Suppression of Rod Opsin as Therapy for Retinitis PigmentosaSCOTT MCNEAR THACHER; Fiscal Year: 2013....
- Toxicology studies for gene-modified stem cell transplantation for cystinosisStephanie Cherqui; Fiscal Year: 2013..This work represents the last steps towards a phase I clinical trial for cystinosis and is also a proof of concept to treat other lysosomal storage disorders. ..
- Gene Therapy for Neurodegenerative Lysosomal Storage DiseasesDouglas R Martin; Fiscal Year: 2013..Validation of this approach to generate AAV vectors with CNS-tropism after iv infusion will pave the way for development of such vectors for human application. ..
- Functions of the BLM Helicase in Telomere MaintenanceJOANNA LOUISE GRODEN; Fiscal Year: 2012..The study of BLM therefore represents an opportunity for us to learn how we can control the growth of cancer cells in a therapeutic setting. ..
- New genes and pathomechanisms of congenital abnormalities of the kidney (CAKUT)Friedhelm Hildebrandt; Fiscal Year: 2013....
- Regulation of polycystin-2 channel activityBarbara E Ehrlich; Fiscal Year: 2013..The proposed studies will help us understand the role of polycystin-1 and polycystin-2 in normal kidneys and in those affected by polycystic kidney disease. ..
- Mechanisms of Mitotic RecombinationJEFF JOSEPH SEKELSKY; Fiscal Year: 2013..abstract_text> ..
- Cell Biology of CFTR in Polarized EpitheliaJames F Collawn; Fiscal Year: 2013..Our goal is to understand how the molecular machinery recognizes aberrant proteins at the plasma membrane. The results of this study are relevant in the analysis of other protein folding diseases. ..
- HDAC6 and the intersection between the UPS, autophagy, and neurodegenerationJOSEPH PAUL TAYLOR; Fiscal Year: 2012..It is not known how HDAC6 functions. This application seeks to understand the mechanism of HDAC6 function so that it may be exploited for therapeutics development. ..
- Metabolomics of the Endosomal/Lysosomal SystemYiannis A Ioannou; Fiscal Year: 2010....
- 4D Shape Analysis for Modeling Spatiotemporal Change Trajectories in Huntington'sGuido Gerig; Fiscal Year: 2013..The toolkit and training materials will represent a new resource for the PREDICT-HD consortium but also for the scientific community. ..
- THE ROLE OF VEGF ON PDPKD DISEASE PROGRESSIONYunxia Tao; Fiscal Year: 2010..This is particularly true because of the current availability of VEGF receptor antagonists and their proven beneficial effect in cancer studies ..
- Mechanisms of Mitotic RecombinationJEFF JOSEPH SEKELSKY; Fiscal Year: 2010..These studies will enhance our understanding of mechanisms of mitotic crossing over and the role that the important tumor suppressor protein BLM plays in preventing mitotic crossing over. ..
- Improved Diagnostic of the Muscular DystrophiesEric P Hoffman; Fiscal Year: 2013..The proposed research will also identify novel genetic causes of muscular dystrophy, and increase the understanding of the molecular events leading to muscle weakness and disability. ..
- Roles of S. pombe SR proteins in spliceosome function and assemblyMICHAEL CHARLES MARVIN; Fiscal Year: 2013..The fundamental understanding of how SR proteins function with the diverse set of introns in S. pombe will inform general mechanisms of SR proteins and the essential process of pre-mRNA processing by the spliceosome as a whole. ..
- Visualizing the effect of epigenetic modifications on transcription and mutationPeter W Laird; Fiscal Year: 2013..The in situ analysis of mutagenesis would allow us to not only determine tissue-specific and cell-type specific in vivo CpG mutation frequencies, but also to analyze mutation kinetics. ..
- Reversible conditional models for Huntington's diseaseScott O Zeitlin; Fiscal Year: 2012....
- Lesch-Nyhan Disease: A Model for Complex Genetic, Proteomic &Metabolic PathwaysTheodore Friedmann; Fiscal Year: 2012..We propose to study that ways in which these omplex interacting factors cause the childhood neurological disorder Lesch Nyhan Disease. ..
- Celestrols for Treatment of Neurodegenerative DiseasesRichard Silverman; Fiscal Year: 2007....
- Genomics of Pediatric Headache DisordersAndrew Hershey; Fiscal Year: 2006..The results of this study should help in beginning to develop a molecular genomic approach for the diagnosis and treatment of different headache disorders. ..
- GENOME RESOURCE BANKING OF RARE FELID POPULATIONSWilliam Swanson; Fiscal Year: 2006..abstract_text> ..
- REPLICON MISFUNCTIONS IN HUMAN CARCINOGENESISJEAN MICHEL VOS; Fiscal Year: 1999..Second, the relative contribution of error-prone and error-free replication during bypass will be assessed and used to isolate bypass factors that may be deficient in various cell lines. ..
- CLONING NOVEL GENES FOR PAGETS DISEASE AND OSTEOSARCOMAMarc Hansen; Fiscal Year: 2001....
- Hypocretin System Immune Diathesis in Human NarcolepsyJohn Black; Fiscal Year: 2004..Long term objectives: This translational, multidisciplinary research will demonstrate fundamental insights into the cause of narcolepsy and will open avenues for new interventions and preventative measures for this debilitating disease. ..
- HOMOLOGOUS PREPUBERTAL CANINE GONAD TRANSPLANTATIONJENNIFER PULLIUM; Fiscal Year: 2007..These models are currently utilized in 16 individual National Institutes of Health (NIH) grants spanning five different NIH Institutes and Centers (NCRR, NIDDK, NHLBI, NINDS, and NICHD). ..
- REPETITIVE SEQUENCE-DEPLETE LIBRARIES OF DNA PROBESXin Yuan Guan; Fiscal Year: 2000..It will simplify protocol for FISH, thus saving time and labor for research scientist, and yet meets the demand of advanced techniques. The DNA probes generated by this new method will be utilized world wide. ..
- Eighteenth Annual Fanconi Anemia Research SymposiumGrover Bagby; Fiscal Year: 2006..This application seeks partial support for this meeting, scheduled to be held in Bethesda in October 2006. [unreadable] [unreadable] [unreadable]..
- MICROARRAY ANALYSIS OF RETINAL DEGENERATION IN MICECaroline Zeiss; Fiscal Year: 2007..Colin Barnstable, Professor of Neurobiology and Ophthalmology, who is an internationally recognized molecular biologist using mouse models of retinal development and degeneration. ..
- NEW INSIGHTS INTO ENZYME STRUCTURE/FUNCTIONEvan Kantrowitz; Fiscal Year: 2001....
- The Functional Role of Inhibition in the Sound Evoked Goldfish Startle BehaviorShennan A Weiss; Fiscal Year: 2010..The results of these experiments will clarify if glycinergic inhibition disrupted in the spinal cord or brain stem induces hyperekplexia and identify pharmacological approaches that can reduce spasticity. ..
- QUANTITATIVE MUTAGENESIS STUDIES IN HUMAN FIBROBLASTSLOIS JACOBS; Fiscal Year: 1980..We also propose to characterize the mutants induced by three different mutagens and to further develop the mutagenesis system by more precisely defining the length of phenotypic expression time needed following mutagen treatment. ..
- Improved bacterial strains for therapeutic DNA productionFrederick Blattner; Fiscal Year: 2007..agent against viral or other infectious diseases, some forms of cancer and possibly to ameliorate inborn genetic diseases. This has created a market for large quantities of injection grade plasmid DNA...
- Transcription Coupled DNA Repair and Human DiseasePhilip Hanawalt; Fiscal Year: 2006..New genes implicated in TCR may be discovered. Novel interactions may be revealed that will clarify relationships between cellular DNA transactions. ..
- Kidney development and cystogenesis in MedakaTomoko Obara; Fiscal Year: 2005..In specific aim 2, we will validate the biological significance of polycystin-1 interacting proteins. ..
- ALTERED DNA LIGASE I IN CANCER-PRONE HEREDITARY DISEASEJohn Chan; Fiscal Year: 1990..The elucidation of the molecular nature of cancer-prone genetic diseases may well provide new insights into the mechanism of DNA processing and deduction of the obligatory step(s) in the initiation of human cancer...
- MOUSE MODELS OF DNA REPAIR DEFECTIVE HUMAN DISEASESErrol Friedberg; Fiscal Year: 2000..Detailed studies on RNA polymerase II transcription in vitro will be carried out to determine whether the molecular pathology correlates with reduced expression of a particular subset of genes. ..
- BREAST CANCER IN COWDENS SYNDROMEMONICA PEACOCKE; Fiscal Year: 1999..In this way, the principal investigator hopes to gain insight into an underrecognized and underdiagnosed form of familial breast cancer which has a cutaneous biomarker of breast cancer susceptibility. ..
- The role of nyctalopin in the mammalian retinaCATHERINE MORGANS; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..
- MLIV mechanisms and therapeutic targetsPaul Labhart; Fiscal Year: 2006..Methods are proposed that make use of a common characteristic of such disorders, i.e., altered gene expression, to work toward therapies for many of these diseases. ..
- ISOLATION OF THE RETINOBLASTOMA SUSCEPTIBILITY GENERobert Bookstein; Fiscal Year: 1990..In addition, this gene can be used as a probe in a restriction fragment length polymorphism assay to diagnose hereditary versus non-hereditary disease, both pre- and post-natally...
- GENETIC STUDIES WITH CULTIVATED MAMMALIAN CELLSROBERT DE MARS; Fiscal Year: 1990....
- DNA REPAIR STUDIES IN XERODERMA PIGMENTOSUM CELLSKristien Mortelmans; Fiscal Year: 1980....
- Nucleic Acids Gordon Research ConferenceSCOTT STROBEL; Fiscal Year: 2006..Considerable time is allotted for discussion following formal lectures. Poster sessions and optional recreational activities will stimulate informal interactions. [unreadable] [unreadable] [unreadable] [unreadable]..
- Cell Proliferation Mediated by Tsc1/Tsc2Gaurang Daftary; Fiscal Year: 2007..The eventual goal is to independently investigate molecular mechanisms underlying human disease and develop targeted therapeutic strategy utilizing model organisms. ..
- Nucleic Acids Gordon Research Conference 2005MARTHA FEDOR; Fiscal Year: 2005..Considerable time is allotted for discussion following formal lectures. Poster sessions and optional recreational activities will stimulate informal interactions. ..
- MECHANISM & CONTROL OF HUMAN NUCLEOTIDE EXCISION REPAIRZhen Qiang Pan; Fiscal Year: 2001....
- TRANSCRIPTION FACTORS AND GENE PATHWAYS IN MLIVPaul Labhart; Fiscal Year: 2003..Finally, results obtained by studying this disease can also be applied to other lysosomal disorders as well as other diseases due to single gene defects. ..
- Use of Genetics in Neurologists' Clinical PracticesCarole Browner; Fiscal Year: 2006..abstract_text> ..
- FUNCTION OF NUCLEOTIDE BINDING DOMAINS IN CFTRRon Kopito; Fiscal Year: 2000....
- Tropism-modified AAV vectors for neonatal gene transferThomas Daly; Fiscal Year: 2003..In addition, the skills and interaction provided in this proposal will be an invaluable aid in the transition from post-doctoral research to a career as an independent investigator. ..
- MOLECULAR DETERMINANTS OF PEDIATRIC HEART DISEASEDaniel Kelly; Fiscal Year: 2003....
- ABCR, Macular Dystrophies and DegenerationJAMES LUPSKI; Fiscal Year: 2005..abstract_text> ..
- CMT Peripheral Neuropathy: IV. Genes and PathogenesisJAMES LUPSKI; Fiscal Year: 2005..abstract_text> ..