| Novel MYH8 mutations in 152 Han Chinese samples with ovarian endometriosis. | Novel MYH8 mutations in 152 Han Chinese samples with ovarian endometriosis.
Lou J, Zou Y, Luo Y, Zhang ZY, Liu FY, Tan J, Zeng X, Wan L, Huang OP. | 04/3/2021 |
| Novel exomic rare variants associated with venous thrombosis. | Novel exomic rare variants associated with venous thrombosis.
Deguchi H, Shukla M, Hayat M, Torkamani A, Elias DJ, Griffin JH., Free PMC Article | 03/13/2021 |
| Truncation of MYH8 tail in AML: a novel prognostic marker with increase cell migration and epithelial-mesenchymal transition utilizing RAF/MAPK pathway. | Truncation of MYH8 tail in AML: a novel prognostic marker with increase cell migration and epithelial-mesenchymal transition utilizing RAF/MAPK pathway.
Park H, Kim D, Kim D, Park J, Koh Y, Yoon SS. | 10/31/2020 |
| There was an immediate shutdown of the MHC IIX gene after resistance exercise. Silencing of the MHC IIX gene is sustained at least 4 days after removal of the stimulus. | Rapid switch-off of the human myosin heavy chain IIX gene after heavy load muscle contractions is sustained for at least four days.
Andersen JL, Gruschy-Knudsen T. | 05/5/2018 |
| Loss-of-function variants in the MYH8 gene do not cause autosomal dominant trismus-pseudocamptodactyly syndrome. | Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.
Dai Z, Whitt Z, Mighion LC, Pontoglio A, Bean LJH, Colombo R, Hegde M. | 08/12/2017 |
| a family in which two out three sibs affected with trismus pseudocamptodactyly, born from healthy nonconsanguineous parents, were heterozygous for the c.2021G > A mutation due to a possible germline mosaicism in MYH8 | Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly.
Bonapace G, Ceravolo F, Piccirillo A, Duro G, Strisciuglio P, Concolino D. | 04/2/2011 |
| 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 gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesEvaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.
Shyy W, Wang K, Sheffield VC, Morcuende JA. Gene-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. | 06/30/2010 |
| findings broaden the phenotype associated with p.R674Q mutations and support the use of MYH8 testing in patients with a clinical diagnosis of trimus-pseudocamptodactyly syndrome | Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.
Minzer-Conzetti K, Wu E, Vargervik K, Slavotinek A. | 01/21/2010 |
| haplotype analysis revealed that this mutation has arisen independently in North American and European TPS pedigrees | Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ. | 01/21/2010 |
| We describe a novel heart-hand syndrome involving familial cardiac myxomas and distal arthrogryposis and demonstrate that these disorders are caused by a founder mutation in the MYH8 gene. | Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT. | 01/21/2010 |