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in the gene encoding gap junction protein alpha 12 (connexin. 46.6) cause Pelizaeus–Merzbacher-like disease. Am J Hum Genet. 75:251–260 ...

http://www.springerlink.com/index/5X044WH02J0X8X23.pdf

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. Received: 11 March 2005 / Accepted: 30 May 2005 / Published ...

http://www.springerlink.com/index/N67KX282TGL17V56.pdf

the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am. J. Hum. Genet., 64, 1210–1215. ...

http://hmg.oxfordjournals.org/cgi/reprint/10/11/1177.pdf

Mutations in a single gene causing different phenotypes have been well documented in retinal diseases. For example, null mutations in the ABCA4 gene cause ...

http://hmg.oxfordjournals.org/cgi/reprint/11/5/605.pdf

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). C Bergmann, F Küpper, C P Schmitt, U Vester, ...

http://jmg.bmj.com/content/42/10/e63.full.pdf

Missense mutations in the f8-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. LAMEH FANANAPAZIR*t, MARINOS C. DALAKASt, ...

http://www.pnas.org/content/90/9/3993.full.pdf

by JML de Vree - 1998 - Cited by 383

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC18201/pdf/pq000282.pdf

by G GONZALEZ - Cited by 17

http://psb.stanford.edu/psb-online/proceedings/psb07/gonzalez.pdf

by SJ Bowne - 2008 - Cited by 2

http://www.molvis.org/molvis/v14/a110/mv-v14-a110-bowne.pdf

With this knowledge as an important foundation, as researchers identify gene mutations that cause disease, they are increasingly able to treat them, ...

http://www.sfn.org/skins/main/pdf/rd/vision.pdf

disease-led approach to gene therapy research, researchers have called for more research into vector safety, delivery techniques, molecular causes of ...

http://www.parliament.uk/documents/upload/POSTpn240.pdf

Mutations in the Glucose-6-Phosphatase Gene. That Cause Glycogen Storage Disease Type 1a. Ke-Jian Lei,* Leslie L. Shelly,* Chi-Jiunn Pan, James B. Sidbury, ...

http://www.sciencemag.org/cgi/reprint/sci;262/5133/580.pdf

genes PGRN, TARDBP and FUS in families with strongly inherited forms of Ftd and MNd. the challenge now is to understand how these mutations cause disease. ...

http://www.wellcome.ac.uk/stellent/groups/corporatesite/@msh_peda/documents/web_document/wtx057293.pdf

When the unstable SCA8 gene is passed on by a mother who is unaffected by the disease, the number of C-T-G repeats can expand and cause disease in her ...

http://www.ataxia.org/pdf/NAF Web Content Publication SCA8.pdf

by AE Roberts - Cited by 177

http://www.hpcgg.org/News/RobertsMutation.pdf

Familial Alzheimer's disease (FAD). If a parent has a mutated gene that causes FAD, each child has a 50% chance of inheriting it. The ...

http://www.alzheimers.org.au/upload/1.10_Dementia_&_heredity.pdf

support that mutations in this gene cause disease. ... in the SLC4A11 gene, were shown to cause disease in each of a series of ten autosomal recessive CHED ...

http://www.informaworld.com/index/791668161.pdf

The gene itself does not cause. AS, but makes individuals more susceptible to the disease. In fact, not everyone with the HLA-B27 marker will develop AS. If ...

http://www.ankylosingspondylitis.org/research/pdf/new_treatment_ankylosing_spondylitis.pdf

ulent race of Psp to cause disease in the previously resistant bean variety. We were right. The molecular cloning of the first pathogen aviru- lence gene ...

http://www.plantphysiol.org/cgi/reprint/125/1/73.pdf

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomy- opathy and conduction-system disease. N Engl J Med 1999;341: ...

http://content.onlinejacc.org/cgi/reprint/54/10/930.pdf?ck=nck

ion and is simply not enough to cause disease; given the mutation type and location, ... tion in the alphaB-crystallin chaperone gene causes a ...

http://www.neurology.org/cgi/rapidpdf/01.wnl.0000319696.14225.67v1.pdf

faulty gene. The gene therapy process. The basic steps of gene therapy include: •. The faulty gene that causes a specific disease must be identified. ...

http://betterhealthchannel.vic.gov.au/Bhcv2/bhcpdf.nsf/ByPDF/Gene_therapy/$File/Gene_therapy.pdf

by JM McDowell - 2003 - Cited by 102

http://www.ndsu.edu/pubweb/~mcclean/plsc731/homework/papers/mcdowell and woffenden - plant disease resistance genes - recent insights and potential applications.pdf

by D Hristovski - 2005 - Cited by 74

http://ibmi.mf.uni-lj.si/bitola/DH_IJMI2005_Published.pdf

some comments regarding the current review of the Gene Technology Regulations ... as the ability of an organism to cause disease is a function of the health ...

http://www.ausbiotech.org/data/downloads/AusBiotech Response to GT review - 08.pdf

gene who are at high risk of developing the disease, as well as to modify the gene and prevent the ... problems and actually causes the disease to start. A ...

http://pb.rcpsych.org/cgi/reprint/15/6/346.pdf

A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis ... disease in two French breeds, the Trait Breton and Trait Comtois draft horses. ...

http://www.edpsciences.org/articles/gse/pdf/2003/02/g350207.pdf

by MW Ho - 1998 - Cited by 57

http://www.biotech-info.net/infectious_diseases.pdf

cause human disease. As of March 2003, the statistical tables of the. Human Gene Mutation Database indicated that they accounted for ...

http://www.bloodjournal.org/cgi/reprint/102/2/698.pdf

Genes and environment must interact and how they act together to cause disease is an important field of study. • Tests for statistical interaction do not ...

http://www-gene.cimr.cam.ac.uk/clayton/courses/florence05/lectures/interaction-lecture.pdf

how gene activity is orchestrated may be starting to unravel the mystery of how genes interact with the environment to cause disease. They ...

http://www.usi.edu/science/lectureseries/pdf/Jirtle_interview_JAMA2008.pdf

Researchers are testing several approaches to gene therapy, including: . Replacing a mutated gene that causes disease with a healthy copy of the gene. ...

http://faculty.ksu.edu.sa/tatiah/Genetic lectures/Gene Therapy.pdf

Susceptibility in Parkinson's Disease. Hum Mol Genet 1999;8: 567–574. 8. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal ...

http://www.chem.ucsb.edu/coursepages/archive/spring03/162/Validation/SNP4.pdf

by IC Wood - 2009cause neuronal disease. Many of the phenotypes we use here to illustrate those processes are single gene disorders, but they ...

http://www.biochemsoctrans.org/bst/037/1261/0371261.pdf

version of the ank gene cause a rare hereditary form of a common joint disease known as chondrocalcinosis, or “pseudogout.” Among people with this disease, ...

http://www.hhmi.org/bulletin/pdf/june2003/Joints.pdf

by R Rabionet - 2006 - Cited by 4

http://www.scielo.br/pdf/gmb/v29n3/30747.pdf

by H Tajsharghi - 2008 - Cited by 1

http://www.mdpi.org/ijms/papers/i9071259.pdf

DC3000AavrPto also did not cause disease in 76R (Table 2). Similarly, gene replacement strains of DC3000 and JL1065 that contained transposon insertions in ...

http://jb.asm.org/cgi/reprint/174/5/1604.pdf

Gene Environment Interaction Virtually all-human diseases result from the ... Genetic variations do not cause disease but rather influence a person's ...

http://www.ashg.org/pdf/CDC Gene-Environment Interaction Fact Sheet.pdf

A change in a gene, known as a mutation, can cause that gene not to work properly. This can lead to disease. Certain diseases are caused when both genes ...

http://www.geneticalliance.org/ksc_assets/diseases/clairealtmanheinefoundation,inc.pdf

Suppose that a certain form of a particular gene causes a disease even when you're a heterozygote. with only one copy of that form (your other copy being ...

http://www.davis.k12.ut.us/eti/BYUSLC/gene.pdf

transcribed region of a gene causes disease by expansion. The mechanism by which an expansion causes disease varies among diseases. ...

http://ajpcell.physiology.org/cgi/reprint/292/4/C1245.pdf?ck=nck

in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am J. Hum Genet 64 (4): 1210-1215 ...

http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/333.pdf

of single genes, but the effects of multiple genes interacting with each other and with environmental factors to cause disease. The Atherosclerosis Risk in ...

http://oehha.ca.gov/public_info/pdf/Dr.Yoon abstract.pdf

are testing several approaches to gene therapy, including: •. Replacing a mutated gene that causes disease with a healthy copy of the gene. ...

http://ghr.nlm.nih.gov/handbook/therapy.pdf

- Related articles

http://www.biologie.fu-berlin.de/verhaltensbiologie/publikationen/kalscheuer-haesler-nshd-cs-mutations-2003.pdf

Mutational analysis of the uromodulin gene (UMOD) was per- ..... UMOD cause disease remain(s) to be elucidated. It is interest- ...

http://jasn.asnjournals.org/cgi/reprint/14/11/2883.pdf

magazine introduces genetic diseases, explains the way genetic defects cause disease, and discusses a research effort to show how adding a corrective gene ...

http://www.biotechinstitute.org/resources/pdf/yw8_1_tg.pdf

Major gene mutations that cause disease were first discovered in. 1949, although it has only been possible to identify these in large numbers in recent ...

http://phenosystems.com/pr-gen2phen-1-2008.pdf

19 Feb 2008 ... revert to its previous ?wild type? form and cause disease. * And lastly, many diseases, especially cancers, have a number of gene mutations. ...

http://sci.tech-archive.net/pdf/Archive/sci.med.diseases.cancer/2008-02/msg00048.pdf