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Topic: Mutation and disease

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Genetic mutation

Mutation

Nonsense mutation

Genetic disorder

Gene

Cellular differentiation

Protein

Mutagen

Biology

Mammal

	LRRK2 gene mutation causes Parkinson's disease in several families
		The disease causing G2019S mutation in the LRRK2 gene is the first time a genetic cause has been associated with typical, late-onset Parkinson's disease.
		The researchers found the mutation by DNA sequencing of the LRRK2 gene in families with parkinsonism.
		Family members of the patients with the G2019S mutation were subsequently screened, and 22 of 42 were found to carry the same mutation.
	www.eurekalert.org /pub_releases/2005-02/mcj-lgm022505.php (457 words)

	* Mutation - (Disease): Definition
		Mutations in protein C can cause a syndrome of activated protein C resistance similar to factor V Leiden (a mutation in factor V).
		Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children...
		Elevated homocysteine levels and mutations of a specific gene (MTHFR) may also indicate an increased risk of coronary artery disease and heart attack, although more study is needed to fully understand their role in heart disease...
	en.mimi.hu /disease/mutation.html (859 words)

	Jurgen Naggert Staff Research Page - The Jackson Laboratory
		Mutation screening to date has identified major mutations such as nonsense mutations and insertions and deletions causing a frameshift and premature translation termination, suggesting that missense mutations do not cause disease or lead to a milder phenotype that is not recognized as Alstr?m syndrome.
		Although Alstr?m syndrome is a rare disease and mutations in the same gene may not play a role in more common forms of obesity, the gene still must be part of a pathway leading to obesity since an obese phenotype is observed.
		New leptin receptor mutations in mice: Leprdb-rtnd, Leprdb-dmpg, and Leprdb-rlpy.
	www.jax.org /staff/jurgen_naggert.html (3911 words)

	Gene mutation responsible for Chrohn's disease inflammation identified in Temple study
		A mutation in one of the genes that might be responsible for the inflammation that characterizes Crohn's disease has been identified by researchers at Temple University's School of Medicine (TUSM).
		Their study, "The mutation Ser511Asn leads to N-glycosulation and increases the cleavage of high molecular weight kininogen in rats genetically susceptible to inflammation," appears in the October 15 issue of Blood (www.bloodjournal.org).
		Although the exact cause of Crohn's disease, a digestive disorder afflicting approximately 500,000 adults in the U.S., remains unknown, scientists agree that it is governed by the immune system and has a genetic component.
	www.eurekalert.org /pub_releases/2003-10/tu-gmr101503.php (354 words)

	NCL resource - Batten disease
		This site serves as a gateway for clinicians, families and researchers who have an interest in or are affected by Batten disease or who wish to find out more.
		The Clinical route describes Batten disease and includes details on diagnosis and diagnostic services.
		A fourth route, Research Consortia, serves to meet research needs and currently act as a focus for collaborative efforts to identify the remaining human and animal NCL genes and facilitate functional approaches.
	www.ucl.ac.uk /ncl (152 words)

	BioMed Central \| Full text \| The functional importance of disease-associated mutation
		Disease causing mutations are also likely structurally perturbing at the protein level [15].
		Reported mutations often occur in the highly conserved alpha-helix-initiation motif of rod domain 1A or in the alpha-helix-termination motif of rod domain 2B [19].
		The finding that disease-associated mutations occur in positions of functional importance supports recent efforts for the building of methods to predict which positions are likely to be disease associated [14,13,16,17].
	www.biomedcentral.com /1471-2105/3/24 (2364 words)

	Bend.com - Finding sheds light on cell mutation, disease (Site not responding. Last check: 2007-11-06)
		Mitochondrial DNA also accumulates mutations with age, and the resulting decline in function could be a key to the process of aging.
		Genetic mutation can be important in evolution — it sets the stage for changes in species, is the key to biological diversity, and is also valuable in some biological systems such as the immune system.
		At least one possibility, Mathews said, is that if the rate of mitochondrial mutation is high from birth, it may explain the age-related accumulation of mitochondrial mutations, leading to decline in mitochondrial function and the biological symptoms associated with aging.
	www.bend.com /news/ar_view.php?ar_id=22747 (574 words)

	mutation and disease (Site not responding. Last check: 2007-11-06)
		T/F Most mutations in the DNA are caused by exposure to chemical carcinogens or ionizing radiation.
		Compare and contrast null alleles, nonsense mutations, missense mutations, frameshift mutations, mutations that affect splicing and mutations that affect transcription.
		Which of these are point mutations and which are insertions/deletion, which are in coding sequence and which in noncoding.
	www.lclark.edu /~lycan/Bio490/490lectureoutlines/mutation.html (283 words)

	UMHS Press Release: Scientists identify gene mutation for eye disease
		AMD is a progressive disease affecting the macula, the area of the retina responsible for central vision that enables us to drive, read, and identify faces.
		The family members who are affected by the disease may have symptoms with varying degrees of severity, but the condition frequently results in permanent loss of central vision.
		The odds of encountering the mutation versus the unaffected gene is closer to three-to-one, rather than the expected one-to-one ratio.
	www.med.umich.edu /opm/newspage/2003/amdgene.htm (848 words)

	NEJM -- Cardiovascular Disease
		A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.
		Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men.
		Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
	content.nejm.org /cgi/content/full/349/1/60 (5086 words)

	Mutation linked to heart disease : HindustanTimes.com (Site not responding. Last check: 2007-11-06)
		Five generations of a family in Dallas, Texas have helped scientists discover a genetic mutation that causes a common birth defect and contributes to heart disease in adults.
		"Mutations in NOTCH1 cause an early developmental defect in the aortic valve," said Dr Vidu Garg, an assistant professor of paediatrics and molecular biology.
		Researchers found a second mutation on the same gene in members of a smaller family in San Diego which they said confirmed their finding.
	www.hindustantimes.com /news/181_1434493,00040004.htm (349 words)

	Studies Link Gene Mutation to Parkinson's Disease (Site not responding. Last check: 2007-11-06)
		LONDON (Reuters) - Three teams of scientists have identified a genetic mutation that is linked to about 5 percent of inherited cases of Parkinson's disease.
		One of the familial forms of Parkinson's disease (PD), autosomal recessive juvenile parkinsonism (AR-JP), arises from a mutation in parkin, a ubiquitin ligase that normally targets proteins for...
		In findings that support a relationship between agricultural chemicals and Parkinson's disease, two groups of researchers have found new evidence that loss of DJ-1, a gene known to be linked to in...
	www.medical-buzz.com /v41424.html (174 words)

	The Body: NIAID Scientists Discover HIV Disease-Slowing Mutation
		A common genetic mutation significantly delays the progression of HIV disease, scientists at the National Institute of Allergy and Infectious Diseases (NIAID) have found.
		Their suspicions that such mutations would slow disease progression were confirmed.
		They found two copies of the mutation in 32 percent of African Americans, 28 percent of Asians, 18 percent of Caucasians and 10 percent of Hispanics in the sample.
	www.thebody.com /niaid/mutation.html (552 words)

	GeneDis Congenital Heart Disease (ASD) Mutation Web Site
		Congenital Heart Disease is a human genetic disease caused due to mutations in the CSX gene.
		Known mutations are incorporated in the gene and in the protein sequences using hyperlinks.
		The mutation table shows the location of the mutation on the cDNA, genomic DNA and protein sequences, the number of exon or intron, the severity of the disease associated with the mutation and a reference in which the mutation was first described.
	life2.tau.ac.il /GeneDis/Tables/ASD/asd.html (483 words)

	Sheffield University VWF Homepage
		New mutations in the exon 28 of VWF gene detected in patients with different types of von Willebrand disease.
		Eikenboom, J.C.J., Briët, E., Reitsma, P.H., Ploos van Amstel, H.K., Severe Type III von Willebrand's disease in the Dutch population is often associated with the absence of von Willebrand factor messenger RNA.
		Gaucher, C., Parquet, A., Baillod, M., Hanss, C., Mazurier, C., Mutations localized in the D3 domain of von Willebrand factor are identified in patients classified in type 1 or 2A von Willebrand disease.
	www.sheffield.ac.uk /vwf/mutations/mutreferences.html (3780 words)

	A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase ...
		A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase -- Kim et al.
		Menkes disease mutations and response to early copper histidine treatment.
		Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate.
	jmg.bmjjournals.com /cgi/content/full/40/4/290 (3985 words)

	Detection of the His1069Gln Mutation in Wilson Disease by Rapid Polymerase Chain Reaction -- Maier-Dobersberger et al. ...
		Fragments from heterozygotes or compound heterozygotes (who had the His1069Gln mutation and an unknown mutation with phenotypic disease) were partially digested and show two bands.
		Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis.
		Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
	www.annals.org /cgi/content/full/127/1/21 (2721 words)

	United Mitochondrial Disease Foundation - Medical Article List by Subject (Site not responding. Last check: 2007-11-06)
		Kishnani ; PS ; 5987 ; Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.
		Mariotti ; C ; 1068 ; Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA.
		Morgan-Hughes ; JA ; 1094* ; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.
	biochemgen.ucsd.edu /umdf/mito-myopa.htm (16722 words)

	The Human Genome Organisation (Site not responding. Last check: 2007-11-06)
		Professor Leena Peltonen is among leading molecular geneticists world-wide and is one of the pioneers in the use of genetically isolated populations in the genetics-based identification of disease genes.
		He is engaged in large-scale, systematic efforts to study the molecular basis of monogenic diseases, with a focus on mental retardation and related disorders.
		Wallace and his colleagues investigated the role of mtDNA variation in human disease, leading to the discovery of the first inherited mtDNA disease mutation and the demonstration of the importance of mtDNA variation in aging and degenerative diseases.
	hugo.hgu.mrc.ac.uk /mission_members.htm (2481 words)

	Are Vaccines Killing Kids? \| Holology.com
		Vaccines have always been touted as a perfect method of eradicating disease and either in promise or fact we seem to have a vaccine for nearly everything, even a potential super vaccine to cure all disease with one shot.
		One problem that has occurred more than once is a disease mutation from the vaccination program as has been officially downplayed with polio in the Caribbean during the fall of 2000.
		It would make more sense to be from a natural cause than for the government to kill an infant with a vaccine or perhaps even worse have them spend the rest of their life in a wheelchair vacuously staring off into space and drooling, with the state paying for their life-care.
	www.holology.com /vaccine.html (3301 words)

	Oxidative DNA damage: mechanisms, mutation, and disease -- COOKE et al. 17 (10): 1195 -- The FASEB Journal
		Oxidative DNA damage: mechanisms, mutation, and disease -- COOKE et al.
		Thymidine glycol occurs mainly as the cis isomer, and the mutational
		DNA damage and a propensity for disease has not been easy.
	www.fasebj.org /cgi/content/full/17/10/1195 (8433 words)

	Locus-Specific Mutation Databases
		A considerable number of locus-specific mutation databases have been constructed and made publically available via the internet.
		Many of the lesions present in these databases are included in the Human Gene Mutation Database.
		Mutation spectra database for bacterial and mammalian genes
	archive.uwcm.ac.uk /uwcm/mg/docs/oth_mut.html (400 words)

	AD&FTD Mutation Database
		The Alzheimer Disease and Frontotemporal Dementia Mutation Database (ADandFTDMDB) aims at collecting all known mutations and non-pathogenic coding variations in the genes related to Alzheimer disease (AD) and frontotemporal dementia.
		The ADandFTDMDB website was launched in September 1999 as a locus-specific database of the Human Genome Variation Society and is being updated continuously.
		To date, ADandFTDMDB contains mutations in the genes encoding the Amyloid Beta Precursor Protein (APP), Presenilin-1 (PSEN1), Presenilin-2 (PSEN2) and Microtubule Associated Protein Tau (MAPT) and holds 210 different mutations observed in 476 dementia patients.
	www.molgen.ua.ac.be /ADMutations (123 words)

	Bibliography of Huntington's Disease, 1990-
		Oculomotor deficits in diseases of the basal ganglia : Parkinson's and Huntington's diseases.
		Sharp, A.H., Ross, C.A. "Neurobiology of Huntington's disease." Neurobiology of Disease, 1996, Vol 3, Iss 1, pp 3-15.
		"Expression of the mutant allele of IT-15 (the HD gene) is striatum and cortex of Huntington's disease patients." Hum Molec Genet, 4:15-18, 1995.
	www.lib.uchicago.edu /~rd13/hd/bib.html (11052 words)

	Mutation Research: Reviews in Mutation Research (JournalSeek)
		The subject areas of Reviews in Mutation Researchencompass the entire spectrum of the science of mutation research and its applications, with particular emphasis on the relationship between mutation and disease.
		Thus this section will cover advances in human genome research (including evolving technologies for mutation detection and functional genomics) with applications in clinical genetics, gene therapy and health risk assessment for environmental agents of concern.
		Genetic toxicology and environmental mutagenesis (including the factors that modulate the genetic activity of environmental agents) will continue to be prominent topics in this section.
	www.journalseek.net /cgi-bin/journalseek/journalsearch.cgi?field=issn&query=1383-5742 (133 words)

	Early onset familial Alzheimer's disease: Mutation frequency in 31 families -- Janssen et al. 60 (2): 235 -- Neurology
		Early onset familial Alzheimer's disease: Mutation frequency in 31 families -- Janssen et al.
		Fox, Harvey, and Rossor) and Neurogenetics Section (H. Houlden), Department of Clinical Neurology, Institute of Neurology, and Department of Neurodegenerative Disease (J.A. Beck, T.A. Campbell, A. Dickinson, and J. Collinge), The National Hospital for Neurology and Neurosurgery; and Department of Neurology (Dr. Rossor), St. Mary’s Hospital, London, UK.
		Structural correlates of early and late onset Alzheimer's disease: voxel based morphometric study
	www.neurology.org /cgi/content/abstract/60/2/235 (471 words)

	Oxidative DNA damage: mechanisms, mutation, and disease -- COOKE et al. 17 (10): 1195 -- The FASEB Journal
		A Mutation in the SDHC Gene of Complex II Increases Oxidative Stress, Resulting in Apoptosis and Tumorigenesis
		Specific mutations of hepatitis B virus in plasma predict liver cancer development
		Induction of frameshift and base pair substitution mutations by the major DNA adduct of the endogenous carcinogen malondialdehyde
	www.fasebj.org /cgi/content/abstract/17/10/1195 (1183 words)

	Energy Citations Database (ECD) - Energy and Energy-Related Bibliographic Citations
		Energy Citations Database (ECD) Document #4637540 - SOMATIC MUTATION AND CHRONIC DISEASE
		Availability information may be found in the Availability, Publisher, Research Organization, Resource Relation and/or Author (affiliation information) fields and/or via the "Full-text Availability" link.
		For a journal article, please see the Resource Relation field.
	www.osti.gov /energycitations/product.biblio.jsp?osti_id=4637540 (72 words)

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