| Study identified 2 non-synonymous missense mutations: c.C652T, p.R218W in ACVRL1, c.C717G, p.D239E in SGCD in Chinese population with total anomalous pulmonary venous return. | Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population.
Li J, Yang S, Pu Z, Dai J, Jiang T, Du F, Jiang Z, Cheng Y, Dai G, Wang J, Qi J, Cao L, Cheng X, Ren C, Li X, Qin Y., Free PMC Article | 04/7/2018 |
| Dilated cardiomyopathy mutations in delta-sarcoglycan can exert a dominant negative effect on dystrophin-glycoprotein complex function leading to myocardial mechanical instability that may underlie the pathogenesis of delta-sarcoglycan-associated DCM. | Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.
Campbell MD, Witcher M, Gopal A, Michele DE., Free PMC Article | 07/1/2017 |
| haplotype -_G composed of c.-100~-110 and A848G confers higher susceptibility to dilated cardiomyopathy in the Mongoloid population. | A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.
Chen J, Jin Y, Wang H, Wei S, Chen D, Ying L, Zhou Q, Li G, Li J, Gao J, Kato N, Hu W, Li Y, Wang Y., Free PMC Article | 07/2/2016 |
| CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population | The CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population.
Ye R, Yang W, Yuan Y, Deng X., Free PMC Article | 08/1/2015 |
| Genetic variation at the delta-sarcoglycan locus elevates heritable sympathetic nerve activity in human twin pairs | Genetic variation at the delta-sarcoglycan (SGCD) locus elevates heritable sympathetic nerve activity in human twin pairs.
Hightower CM, Zhang K, Miramontes-González JP, Rao F, Wei Z, Schork AJ, Nievergelt CM, Biswas N, Mahata M, Elkelis N, Taupenot L, Stridsberg M, Ziegler MG, O'Connor DT., Free PMC Article | 02/22/2014 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of genetic testing. (HuGE Navigator) | A novel custom resequencing array for dilated cardiomyopathy.
Zimmerman RS, Cox S, Lakdawala NK, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH., Free PMC Article | 06/30/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | Delta-sarcoglycan gene polymorphism frequency in Amerindian and Mestizo populations of Mexico.
Ordoñez-Razo RM, Canizales-Quinteros S, Rodríguez-Cruz M, Peñaloza R, Minauro-Sanmiguel F, Canto-Cetina T, Canto P, Coral-Vázquez R, Salamanca-Gómez F. | 06/30/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Detecting Genes and Gene-gene Interactions for Age-related Macular Degeneration with a Forest-based Approach.
Wang M, Zhang M, Chen X, Zhang H., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration.
Lin WY, Lee WC., Free PMC Article | 04/7/2010 |
| Finding questions the pathological relevance of sequence variant of the delta-sarcoglycan gene for causing familial autosomal-dominant dilated cardiomyopathy. | Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
Bauer R, Hudson J, Müller HD, Sommer C, Dekomien G, Bourke J, Routledge D, Bushby K, Klepper J, Straub V., Free PMC Article | 01/21/2010 |
| The limb-girdle muscular dystrophy patients with delta-sarcoglycan deficient LGMD2F do not enable an accurate prediction of the genotype. | Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesGene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.
Ng D, Hu N, Hu Y, Wang C, Giffen C, Tang ZZ, Han XY, Yang HH, Lee MP, Goldstein AM, Taylor PR. Impact of delta-sarcoglycan gene polymorphism on the occurrence of coronary spastic angina in Japanese patients with hypertrophic cardiomyopathy.
Honda T, Sugiyama S, Sakamoto T, Kaikita K, Ogawa H, Honda T, Sugiyama S, Sakamoto T, Kaikita K, Ogawa H. | 03/13/2008 |
| The 5'-UTR G to C polymorphism on delta-sarcoglycan gene was associated with coronary spasm in Japanese patients with hypertrophic cardiomyopathy. | Impact of delta-sarcoglycan gene polymorphism on the occurrence of coronary spastic angina in Japanese patients with hypertrophic cardiomyopathy.
Honda T, Sugiyama S, Sakamoto T, Kaikita K, Ogawa H, Honda T, Sugiyama S, Sakamoto T, Kaikita K, Ogawa H. | 01/21/2010 |
| These data suggest that formation of the beta-delta-core may promote the export and deposition of sarcoglycan subcomplexes at the plasma membrane, and therefore identifies a mechanism for sarcoglycan transport. | The beta-delta-core of sarcoglycan is essential for deposition at the plasma membrane.
Draviam RA, Shand SH, Watkins SC. | 01/21/2010 |