| Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy. | Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy.
Giri P, Jain D, Kumar A, Mohapatra B. | 05/4/2023 |
| LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3. | LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3.
Chauhan PK, Sowdhamini R., Free PMC Article | 04/23/2022 |
| The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals. | The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.
Salazar-Mendiguchía J, Barriales-Villa R, Lopes LR, Ochoa JP, Rodríguez-Vilela A, Palomino-Doza J, Larrañaga-Moreira JM, Cicerchia M, Cárdenas-Reyes I, García-Giustiniani D, Brögger N, Fernández G, García S, Santiago L, Vélez P, Ortiz-Genga M, Elliott PM, Monserrat L. | 06/5/2021 |
| Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy. | Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.
Lipari M, Wypasek E, Karpiński M, Tomkiewicz-Pajak L, Laino L, Binni F, Giannarelli D, Rubiś P, Petkow-Dimitrow P, Undas A, Grammatico P, Bottillo I. | 01/30/2021 |
| MLP-deficient human embryonic stem cell derived cardiomyocytes recapitulate the pathogenesis of hypertrophic cardiomyopathy. | MLP-deficient human pluripotent stem cell derived cardiomyocytes develop hypertrophic cardiomyopathy and heart failure phenotypes due to abnormal calcium handling.
Li X, Lu WJ, Li Y, Wu F, Bai R, Ma S, Dong T, Zhang H, Lee AS, Wang Y, Lan F., Free PMC Article | 08/1/2020 |
| Previous results along with the newly identified homozygous CSRP3 truncating variants in two unrelated hypertrophic cardiomyopathy (HCM) patients suggest that the association of CSRP3 as a validated HCM-causing gene require additional studies and those CSRP3 variants could result in HCM with an autosomal recessive inheritance rather than with an autosomal dominant transmission as usually reported on HCM. | First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.
Janin A, Bessière F, Chauveau S, Chevalier P, Millat G. | 09/15/2018 |
| MLP contributes to the maintenance of cardiomyocyte cytoarchitecture by a mechanism involving its self-association and actin filament cross-linking. | Human muscle LIM protein dimerizes along the actin cytoskeleton and cross-links actin filaments.
Hoffmann C, Moreau F, Moes M, Luthold C, Dieterle M, Goretti E, Neumann K, Steinmetz A, Thomas C., Free PMC Article | 10/11/2014 |
| study reports the discovery of an alternative splice variant of muscle lim protein encoded by the CSRP3 gene, designated as MLP-b, showing distinct expression in neuromuscular disease and direct roles in actin dynamics and muscle differentiation | Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation.
Vafiadaki E, Arvanitis DA, Papalouka V, Terzis G, Roumeliotis TI, Spengos K, Garbis SD, Manta P, Kranias EG, Sanoudou D., Free PMC Article | 09/13/2014 |
| KLF5 reverses hhLIM function from anti-proliferation to pro-proliferation through its interaction with hhLIM on the cyclin E promoter. | KLF5 and hhLIM cooperatively promote proliferation of vascular smooth muscle cells.
Shi HJ, Wen JK, Miao SB, Liu Y, Zheng B. | 10/20/2012 |
| The CSRP3-W4R mutation causes cardiomyopathy and heart failure in patients and engineered knock-in animals. | A common MLP (muscle LIM protein) variant is associated with cardiomyopathy.
Knöll R, Kostin S, Klede S, Savvatis K, Klinge L, Stehle I, Gunkel S, Kötter S, Babicz K, Sohns M, Miocic S, Didié M, Knöll G, Zimmermann WH, Thelen P, Bickeböller H, Maier LS, Schaper W, Schaper J, Kraft T, Tschöpe C, Linke WA, Chien KR. | 06/6/2012 |
| CSRP3 is involved in cardiac mechanosensory processes, is localized to the sarcomeric Z-disc and human mutations cause cardiomyopathy(DCM)and heart failure. | The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.
Knöll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork NJ, Omens JH, McCulloch AD, Kimura A, Gregorio CC, Poller W, Schaper J, Schultheiss HP, Chien KR. | 06/6/2012 |
| 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 |
| MLP binds directly to CFL2 in human cardiac and skeletal muscles. | Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle.
Papalouka V, Arvanitis DA, Vafiadaki E, Mavroidis M, Papadodima SA, Spiliopoulou CA, Kremastinos DT, Kranias EG, Sanoudou D., Free PMC Article | 01/21/2010 |
| CRP3/MLP is primarily expressed in arterial smooth muscle cells and that stretch is the main stimulus for CRP3/MLP induction in veins exposed to arterial haemodynamic conditions. | Induction of CRP3/MLP expression during vein arterialization is dependent on stretch rather than shear stress.
Campos LC, Miyakawa AA, Barauna VG, Cardoso L, Borin TF, Dallan LA, Krieger JE. | 01/21/2010 |
| Complete chemical shift assignment was achieved for the first LIM domain and for most of the second domain, the N-terminal and C-terminal linker and part of the intervening linker. | 1H, 13C, and 15N assignment of the muscular LIM protein MLP/CRP3.
Schallus T, Edlich C, Stier G, Muhle-Goll C. | 01/21/2010 |
| CSRP3 mutation was found involved in hypertrophic cardiomyopathy. | Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.
Andersen PS, Havndrup O, Hougs L, Sørensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H. | 01/21/2010 |
| The structure of both LIM domains of human MLP by nuclear magnetic resonance spectroscopy. | Structure and dynamics of the human muscle LIM protein.
Schallus T, Fehér K, Ulrich AS, Stier G, Muhle-Goll C. | 01/21/2010 |
| Study used linkage analysis and identified a CSRP3 missense mutation in a large German family affected by hypertrophic cardiomyopathy. | Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Geier C, Gehmlich K, Ehler E, Hassfeld S, Perrot A, Hayess K, Cardim N, Wenzel K, Erdmann B, Krackhardt F, Posch MG, Osterziel KJ, Bublak A, Nägele H, Scheffold T, Dietz R, Chien KR, Spuler S, Fürst DO, Nürnberg P, Ozcelik C. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (6) articlesCommon susceptibility variants examined for association with dilated cardiomyopathy.
Rampersaud E, Kinnamon DD, Hamilton K, Khuri S, Hershberger RE, Martin ER. 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. The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
Møller DV, Pham TT, Gustafsson F, Hedley P, Ersbøll MK, Bundgaard H, Andersen CB, Torp-Pedersen C, Køber L, Christiansen M. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.
Hershberger RE, Parks SB, Kushner JD, Li D, Ludwigsen S, Jakobs P, Nauman D, Burgess D, Partain J, Litt M. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.
Møller DV, Andersen PS, Hedley P, Ersbøll MK, Bundgaard H, Moolman-Smook J, Christiansen M, Køber L. Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy.
Bos JM, Theis JL, Tajik AJ, Gersh BJ, Ommen SR, Ackerman MJ. | 06/11/2008 |
| A myocardial actin-binding protein that increases actin cytoskeleton stability by promoting bundling of actin filaments. | hhLIM is a novel F-actin binding protein involved in actin cytoskeleton remodeling.
Zheng B, Wen JK, Han M. | 01/21/2010 |
| These findings suggest that hhLIM is a typical LIM family member with powerful transcription activation. | Human heart LIM protein has transcription activation ability related to LIM domain 1.
Zheng B, Han M, Wen JK. | 01/21/2010 |
| CSRP3, MUSTN1, SIX1, and FBXO32 expression changes in response to lengthening and shortening contractions in human muscle | Gene expression responses over 24 h to lengthening and shortening contractions in human muscle: major changes in CSRP3, MUSTN1, SIX1, and FBXO32.
Kostek MC, Chen YW, Cuthbertson DJ, Shi R, Fedele MJ, Esser KA, Rennie MJ. | 01/21/2010 |
| Mutations in the CRP3/MLP gene can cause hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). | Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.
Geier C, Perrot A, Ozcelik C, Binner P, Counsell D, Hoffmann K, Pilz B, Martiniak Y, Gehmlich K, van der Ven PF, Fürst DO, Vornwald A, von Hodenberg E, Nürnberg P, Scheffold T, Dietz R, Osterziel KJ. | 01/21/2010 |