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14 results for uniprot:Q8WXH2 in Computationally mapped citations

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Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.

Stevanin G., Fujigasaki H., Lebre A.S., Camuzat A., Jeannequin C., Dode C., Takahashi J., San C., Bellance R., Brice A. et al.

Brain 126:1599-1603(2003) GeneRIF 57338 · Mapped (13)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 57338

JP-3 gene polymorphism in a healthy population of Serbia and Montenegro.

Keckarevic M., Savic D., Romac S.

J. Genet. 84:69-71(2005) GeneRIF 57338 · Mapped (6)
Observational study of genotype prevalence. (HuGE Navigator) GeneRIF 57338

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.

Costa M.d.o. C., Teixeira-Castro A., Constante M., Magalhaes M., Magalhaes P., Cerqueira J., Vale J., Passao V., Barbosa C., Robalo C. et al.

J. Hum. Genet. 51:645-651(2006) GeneRIF 57338 · Mapped (46)
Observational study of genotype prevalence. (HuGE Navigator) GeneRIF 57338

A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.

Bardien S., Abrahams F., Soodyall H., van der Merwe L., Greenberg J., Brink T., Carr J.

Mov. Disord. 22:2083-2089(2007) GeneRIF 57338 · Mapped (6)
This report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. GeneRIF 57338

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

Sulek-Piatkowska A., Krysa W., Zdzienicka E., Szirkowiec W., Hoffman-Zacharska D., Rajkiewicz M., Fidzianska E., Kowalska G., Zaremba J.

Neurol. Neurochir. Pol. 42:203-209(2008) GeneRIF 57338 · Mapped (19)
244 Patients with the diagnosis of Huntington's Disease and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2. GeneRIF 57338

Huntington's disease-like 2 in Brazil--report of 4 patients.

Rodrigues G.G., Walker R.H., Brice A., Cazeneuve C., Russaouen O., Teive H.A., Munhoz R.P., Becker N., Raskin S., Werneck L.C. et al.

Mov. Disord. 23:2244-2247(2008) GeneRIF 57338 · Mapped (6)
HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. GeneRIF 57338

Association of gene polymorphisms with chronic kidney disease in Japanese individuals.

Yoshida T., Kato K., Yokoi K., Oguri M., Watanabe S., Metoki N., Yoshida H., Satoh K., Aoyagi Y., Nozawa Y. et al.

Int. J. Mol. Med. 24:539-547(2009) GeneRIF 57338 · Mapped (104)
Data revealed that six polymorphisms of F10 PITRM1 PCSK2 JPH3 MYO7B and AKAP12 were related (P<0.05) to the prevalence of chronic kidney disease; Observational study of gene-disease association. (HuGE Navigator) GeneRIF 57338

Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.

Oguri M., Kato K., Yokoi K., Yoshida T., Watanabe S., Metoki N., Yoshida H., Satoh K., Aoyagi Y., Nozawa Y. et al.

Am. J. Hypertens. 23:70-77(2010) GeneRIF 57338 GAD 564062 · Mapped (513)
Not Associated with CARDIOVASCULAR: hypertension; GAD 564062 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 57338

Association of genetic variants with hemorrhagic stroke in Japanese individuals.

Yoshida T., Kato K., Yokoi K., Oguri M., Watanabe S., Metoki N., Yoshida H., Satoh K., Aoyagi Y., Nozawa Y. et al.

Int. J. Mol. Med. 25:649-656(2010) GeneRIF 57338 · Mapped (457)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 57338

Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Rose J.E., Behm F.M., Drgon T., Johnson C., Uhl G.R.

Mol. Med. 16:247-253(2010) GeneRIF 57338 · Mapped (9,843)
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) GeneRIF 57338

An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice.

Wilburn B., Rudnicki D.D., Zhao J., Weitz T.M., Cheng Y., Gu X., Greiner E., Park C.S., Wang N., Sopher B.L. et al.

Neuron 70:427-440(2011) GeneRIF 57338 · Mapped (6)
This study reveled the an antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. GeneRIF 57338

Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis.

Seixas A.I., Holmes S.E., Takeshima H., Pavlovich A., Sachs N., Pruitt J.L., Silveira I., Ross C.A., Margolis R.L., Rudnicki D.D.

Ann. Neurol. 71:245-257(2012) GeneRIF 57338 · Mapped (6)
The pathogenic mechanism of Huntington disease-like 2 is multifactorial involving both a toxic gain of function of JPH3 RNA transcripts and a toxic loss of JPH3 expression in an experimental Huntington disease-like 2 mouse model. GeneRIF 57338

JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family.

Schneider S.A., Marshall K.E., Xiao J., LeDoux M.S.

Neurogenetics 13:133-140(2012) GeneRIF 57338 · Mapped (6)
JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent. GeneRIF 57338

Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity.

Grimsby S., Jaensson H., Dubrovska A., Lomnytska M., Hellman U., Souchelnytskyi S.

FEBS Lett. 577:93-100(2004) MINT MINT-1208946 · Mapped (23)
MINT-51254. SMAD3 (uniprotkb:P84022) physically interacts (MI:0915) with JPH3 (uniprotkb:Q8WXH2) by pull down (MI:0096). From mint MINT MINT-1208946

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