| A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation. | A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.
Gurgel-Giannetti J, Souza LS, Messina de Pádua Andrade GF, Derlene MF, Meira ZMA, Azevedo BVM, Jr WC, Diniz SSL, Carvalhais MB, Oliveira JRS, Uliana L, Bráulio R, Costa PHN, Filho GB, Vainzof M. | 05/21/2022 |
| Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy. | Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.
Almannai M, Luo S, Faqeih E, Almutairi F, Li Q, Agrawal PB., Free PMC Article | 01/8/2022 |
| Loss of SPEG Inhibitory Phosphorylation of Ryanodine Receptor Type-2 Promotes Atrial Fibrillation. | Loss of SPEG Inhibitory Phosphorylation of Ryanodine Receptor Type-2 Promotes Atrial Fibrillation.
Campbell HM, Quick AP, Abu-Taha I, Chiang DY, Kramm CF, Word TA, Brandenburg S, Hulsurkar M, Alsina KM, Liu HB, Martin B, Uhlenkamp D, Moore OM, Lahiri SK, Corradini E, Kamler M, Heck AJR, Lehnart SE, Dobrev D, Wehrens XHT., Free PMC Article | 09/4/2021 |
| Novel SPEG variant cause centronuclear myopathy in China. | Novel SPEG variant cause centronuclear myopathy in China.
Tang J, Ma W, Chen Y, Jiang R, Zeng Q, Tan J, Jiang H, Li Q, Zhang VW, Wang J, Tang H, Luo L., Free PMC Article | 12/19/2020 |
| A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy. | A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.
Levitas A, Muhammad E, Zhang Y, Perea Gil I, Serrano R, Diaz N, Arafat M, Gavidia AA, Kapiloff MS, Mercola M, Etzion Y, Parvari R, Karakikes I., Free PMC Article | 12/12/2020 |
| Striated muscle-specific serine/threonine-protein kinase beta segregates with high versus low responsiveness to endurance exercise training. | Striated muscle-specific serine/threonine-protein kinase beta segregates with high versus low responsiveness to endurance exercise training.
Kusić D, Connolly J, Kainulainen H, Semenova EA, Borisov OV, Larin AK, Popov DV, Generozov EV, Ahmetov II, Britton SL, Koch LG, Burniston JG., Free PMC Article | 11/21/2020 |
| Clinicians should consider evaluating a centronuclear myopathies patient for SPEG mutations even in the absence of centronuclear myopathies features | Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.
Qualls AE, Donkervoort S, Herkert JC, D'gama AM, Bharucha-Goebel D, Collins J, Chao KR, Foley AR, Schoots MH, Jongbloed JDH, Bönnemann CG, Agrawal PB., Free PMC Article | 07/6/2019 |
| SPEG is present in cardiac muscle, where it plays a critical role; therefore, individuals with SPEG mutations additionally present with dilated cardiomyopathy. | SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH., Free PMC Article | 10/18/2014 |
| 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 gene-disease association. (HuGE Navigator) | 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., Free PMC Article | 09/15/2010 |
| the RGD motif might play a role not only in the adhesion of Aortic Preferentially Expressed Protein-1 and extracellular proteins but also in intracellular protein-protein interactions | X-ray structure of engineered human Aortic Preferentially Expressed Protein-1 (APEG-1).
Manjasetty BA, Niesen FH, Scheich C, Roske Y, Goetz F, Behlke J, Sievert V, Heinemann U, Büssow K., Free PMC Article | 01/21/2010 |
| Genomic rearrangement on APEG1 in arteriosclerosis was studied. | Genomic rearrangements on VCAM1, SELE, APEG1and AIF1 loci in atherosclerosis.
Arvanitis DA, Flouris GA, Spandidos DA., Free PMC Article | 01/21/2010 |