| A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy. | A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C. | 01/29/2024 |
| Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology. | Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology.
Tinklenberg JA, Slick RA, Sutton J, Zhang L, Meng H, Beatka MJ, Vanden Avond M, Prom MJ, Ott E, Montanaro F, Heisner J, Toro R, Hardeman EC, Geurts AM, Stowe DF, Hill RB, Lawlor MW., | 09/20/2023 |
| Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects. | Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects.
Mulvany-Robbins B, Putko B, Schmitt L, Oudit G, Phan C, Beecher G. | 08/19/2023 |
| alpha-SMA positive vascular mural cells suppress cyst formation in hemangioblastoma. | α-SMA positive vascular mural cells suppress cyst formation in hemangioblastoma.
Sakaguchi M, Nakajima R, Ichinose T, Tanaka S, Kimura R, Sabit H, Nakada S, Nakada M. | 07/7/2023 |
| Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. | Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Labasse C, Brochier G, Taratuto AL, Cadot B, Rendu J, Monges S, Biancalana V, Quijano-Roy S, Bui MT, Chanut A, Madelaine A, Lacène E, Beuvin M, Amthor H, Servais L, de Feraudy Y, Erro M, Saccoliti M, Neto OA, Fauré J, Lannes B, Laugel V, Coppens S, Lubieniecki F, Bello AB, Laing N, Evangelista T, Laporte J, Böhm J, Romero NB., Free PMC Article | 07/16/2022 |
| Activin A Causes Muscle Atrophy through MEF2C-Dependent Impaired Myogenesis. | Activin A Causes Muscle Atrophy through MEF2C-Dependent Impaired Myogenesis.
Loumaye A, Lause P, Zhong X, Zimmers TA, Bindels LB, Thissen JP., Free PMC Article | 04/30/2022 |
| Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. | Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.
Wang Q, Hu Z, Chang X, Yu M, Xie Z, Lv H, Zhang W, Xiong H, Yuan Y, Wang Z. | 06/5/2021 |
| Osteosarcoma-Derived Extracellular Vesicles Induce Lung Fibroblast Reprogramming. | Osteosarcoma-Derived Extracellular Vesicles Induce Lung Fibroblast Reprogramming.
Mazumdar A, Urdinez J, Boro A, Migliavacca J, Arlt MJE, Muff R, Fuchs B, Snedeker JG, Gvozdenovic A., Free PMC Article | 02/20/2021 |
| Metabolic Alterations in Spheroid-Cultured Hepatic Stellate Cells. | Metabolic Alterations in Spheroid-Cultured Hepatic Stellate Cells.
Fujisawa K, Takami T, Sasai N, Matsumoto T, Yamamoto N, Sakaida I., Free PMC Article | 02/13/2021 |
| carrying a similar clinical phenotype of some members of the original family and the same ACTA1 mutation, revealed the presence of numerous nemaline rods, suggesting that there must be other factors that explain the absence of nemaline rods | Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1.
Hernandez-Lain A, Cantero D, Camacho-Salas A, Toldos O, Esteban I, Pascual I, Dominguez-Gonzalez C. | 06/6/2020 |
| ACTA1 played important role in regulating the initiation and progression of head and neck squamous cell carcinoma , and could be identified as key biomarker. | Identification of SERPINE1, PLAU and ACTA1 as biomarkers of head and neck squamous cell carcinoma based on integrated bioinformatics analysis.
Yang K, Zhang S, Zhang D, Tao Q, Zhang T, Liu G, Liu X, Zhao T., Free PMC Article | 11/30/2019 |
| ACTA1 Novel Likely Pathogenic Variant in a Family With Dilated Cardiomyopathy. | ACTA1 Novel Likely Pathogenic Variant in a Family With Dilated Cardiomyopathy.
Reza N, Garg A, Merrill SL, Chowns JL, Rao S, Owens AT., Free PMC Article | 09/21/2019 |
| This study shows that WASp plays a critical role in thymic output, which highly correlates with the subcellular location and level of F-actin in T cells. | Defective thymic output in WAS patients is associated with abnormal actin organization.
Li W, Sun X, Wang J, Zhao Q, Dai R, Wang Y, Zhou L, Westerberg L, Ding Y, Zhao X, Liu C., Free PMC Article | 07/6/2019 |
| Genes associated with Nemaline Myopathy were sequenced. Four mutations in NEB (c.17779_17780delTA, c.11086A>C, c.21076C>T and c.2310+5G>A) and one mutation in ACTA1 (c.871A>T) were found in four patients. Three of the four mutations in NEB were novel. A cDNA sequencing assay of the novel variants c.17779_17780delTA, c.11086A>C and c.2310+5G>A revealed that the intronic variant c.2310+5G>A affected the splicing process. | New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.
Moreau-Le Lan S, Aller E, Calabria I, Gonzalez-Tarancon L, Cardona-Gay C, Martinez-Matilla M, Aparisi MJ, Selles J, Sagath L, Pitarch I, Muelas N, Cervera JV, Millan JM, Pedrola L., Free PMC Article | 05/11/2019 |
| Myopathy-inducing mutation H40Y in ACTA1 hampers actin filament structure and function. | Myopathy-inducing mutation H40Y in ACTA1 hampers actin filament structure and function.
Chan C, Fan J, Messer AE, Marston SB, Iwamoto H, Ochala J., Free PMC Article | 03/30/2019 |
| Our study demonstrates that high ActA level is an independent prognosis factor of survival in cancer patients. More than a basic marker of the severity of the neoplastic disease or of the inflammatory process, ActA seems to influence survival by contributing to the development of cachexia and loss of skeletal muscle mass. | Circulating Activin A predicts survival in cancer patients.
Loumaye A, de Barsy M, Nachit M, Lause P, van Maanen A, Trefois P, Gruson D, Thissen JP., Free PMC Article | 06/9/2018 |
| The study confirmed ACTA1 mutations in four patients, including one with intranuclear rods, one with large intracytoplasmic aggregates, and two with nemaline intracytoplasmic rods. | Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.
Moreno CAM, Abath Neto O, Donkervoort S, Hu Y, Reed UC, Oliveira ASB, Bönnemann C, Zanoteli E. | 05/19/2018 |
| Study shows that clinically severe ACTA1-related myopathy can present with muscle morphological findings suggestive of cytoplasmic body myopathy in the absence of definite nemaline rods. | Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.
Donkervoort S, Chan SHS, Hayes LH, Bradley N, Nguyen D, Leach ME, Mohassel P, Hu Y, Thangarajh M, Bharucha-Goebel D, Kan A, Ho RSL, Reyes CA, Nance J, Moore SA, Foley AR, Bönnemann CG., Free PMC Article | 03/17/2018 |
| Shorter than normal thin filament length contributes to the impaired force generation in patients with thin filament myopathy, but only in those who harbor specific mutations in NEB or ACTA1. | Mutation-specific effects on thin filament length in thin filament myopathy.
Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA., Free PMC Article | 06/10/2017 |
| Over-expression of TNC, SMA, and vimentin were significantly correlated with the lower overall survival in prostate cancer patients. | Tenascin-C is a potential cancer-associated fibroblasts marker and predicts poor prognosis in prostate cancer.
Ni WD, Yang ZT, Cui CA, Cui Y, Fang LY, Xuan YH. | 06/3/2017 |
| ANA and ASMA evaluation in patients with liver transplantation and no history of autoimmune disease has no clinical relevance, since it varies in time and is not related to any risk factors or liver injury. Routine autoimmunity evaluation should be avoided. | Lack of Clinical Relevance of ANA and ASMA Positivity in Patients with Liver Transplantation without a History of Autoimmune Diseases.
Pellegrini L, Parrilli G, Santonicola A, Cinquanta L, Caputo C, Ciacci C, Zingone F., Free PMC Article | 04/29/2017 |
| Upon actin engagement, the N-terminal "strap" and helix 1 are displaced from the vinculin tail helical bundle to mediate actin bundling. | The Structural Basis of Actin Organization by Vinculin and Metavinculin.
Kim LY, Thompson PM, Lee HT, Pershad M, Campbell SL, Alushin GM., Free PMC Article | 06/11/2016 |
| This study reported the new information on the frequency and phenotypes of congenital myopathy caused by ACTA1 mutations in subjects >/=5 years of age. | Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
Witting N, Werlauff U, Duno M, Vissing J. | 05/28/2016 |
| The authors propose that Lpd delivers Ena/VASP proteins to growing barbed ends and increases their actin polymerase activity by tethering them to actin filaments. | Lamellipodin promotes actin assembly by clustering Ena/VASP proteins and tethering them to actin filaments.
Hansen SD, Mullins RD., Free PMC Article | 05/14/2016 |
| Mutations in ACTA1 can cause pathologic features consistent with myofibrillar myopathy. | Severe congenital actin related myopathy with myofibrillar myopathy features.
Selcen D. | 02/20/2016 |