ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015674
Disease: Chronic Fatigue Syndrome
Chronic Fatigue Syndrome
0.010 Biomarker disease BEFREE Identification of actin network proteins, talin-1 and filamin-A, in circulating extracellular vesicles as blood biomarkers for human myalgic encephalomyelitis/chronic fatigue syndrome. 31759091 2020
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
0.010 Biomarker disease BEFREE Although there was functional recovery with normalization of GFR two weeks after CA/CPR, deposition of tubulointerstitial matrix proteins α-smooth muscle actin and fibrillin-1 progressed, along with a significantly reduced mean GFR (623 in sham vs. 409 μL/min/100g in CA/CPR animals), proteinuria, increased tissue transforming growth factor-β, and fibrosis establishing the development of CKD seven weeks after CA/CPR. 31623859 2020
CUI: C0022354
Disease: Jaundice, Obstructive
Jaundice, Obstructive
0.010 AlteredExpression disease BEFREE All these data demonstrated that p38 MAPK-pHsp27 mediates vascular hyporesponsiveness in rats with obstructive jaundice by modulating the expression level of pHsp27 and F-actin, and that inhibition of p38 MAPK signaling could remodel the vascular activity. 31810142 2020
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.010 AlteredExpression disease BEFREE MFS-VSMC proteomic profile diverged from that of WT-VSMC particularly regarding lower expression of actin cytoskeleton-regulatory proteins. 31678158 2020
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections
0.010 AlteredExpression group BEFREE From two independent proteomic analyses using circulating EVs from ME/CFS, healthy controls, idiopathic chronic fatigue, and depression, proteins identified from ME/CFS patients are involved in focal adhesion, actin skeletal regulation, PI3K-Akt signaling pathway, and Epstein-Barr virus infection. 31759091 2020
CUI: C0151846
Disease: Periosteal Disorder
Periosteal Disorder
0.010 Biomarker disease BEFREE Alpha-smooth muscle actin (αSMA) is a marker of early osteoprogenitor cells in the periosteum, and we hypothesized that the new osteoblasts that are activated by loading could originate from αSMA-expressing cells. 31673746 2020
CUI: C0276447
Disease: Rhinovirus infection
Rhinovirus infection
0.010 Biomarker disease BEFREE Thus, we identify Arpin as a central actin regulator during phagocytosis that it is targeted by human rhinovirus 16, allowing the virus to perturb bacterial internalisation and phagocytosis in macrophages. 31721415 2020
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.010 GeneticVariation disease BEFREE ACTB rs852426 was significantly associated with alcohol consumption on stroke risk, and the expression of ACTB mRNA in IS who had a drinking habit was significantly down-regulated. 31327802 2020
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
0.010 Biomarker disease BEFREE EBV-transformed lymphoblastoid cells (EBV-LCLs) from patients with APDS exhibit increased polymerized actin and increased apoptosis, suggesting a contribution of impaired actin dynamics to this disease. 31760094 2020
CUI: C3839205
Disease: Signet-ring stromal tumor
Signet-ring stromal tumor
0.010 Biomarker disease BEFREE The immunohistochemical profile-positive steroidogenic factor 1, calretinin, and smooth muscle actin, and negative epithelial membrane antigen-supported the diagnosis of SRST. 30676431 2020
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
0.010 AlteredExpression disease BEFREE RNA interference (RNAi) of SePGDS expression resulted in immunosuppression of cellular immune responses by suppressing the expression of actin polymerization-associated genes. 31794733 2020
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
0.010 Biomarker disease BEFREE Our data show that Rac1 and cofilin activity are key to determining the rate of acquisition of alcohol preference, revealing a critical role of actin dynamics regulation in the development of voluntary self-administration in <i>Drosophila</i><b>SIGNIFICANCE STATEMENT</b> The risks for developing an alcohol use disorder (AUD) are strongly determined by genetic factors. 31558618 2019
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma
0.010 Biomarker disease BEFREE All three factors were heterogeneously detected in ameloblastoma samples (α-SMA, n=71/76, 93.4%; osteonectin, n=72/76, 94.7%; N-cadherin, n=24/76, 31.6%). 31262562 2019
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
0.010 AlteredExpression disease BEFREE Our results showed that SAC dose-dependently reduced the infiltration of inflammatory cells, pulmonary lesions and collagen deposition in BLM treated mice with downregulated mRNA expression levels of fibrotic genes including alpha smooth muscle actin (α-SMA), fibronectin, collagen I and collagen III as well as the protein level of α-SMA. 30928090 2019
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms
0.010 Biomarker group BEFREE A subpopulation of osteoblasts was identified in the bone tumor microenvironment in vivo of both humans and mice with bone metastatic breast cancer that express RUNX2/OCN/OPN but is negative for IL-6 and alpha-smooth muscle actin. 30813947 2019
CUI: C0006023
Disease: Borna Disease
Borna Disease
0.010 Biomarker disease BEFREE Intracellular dynamics of actin affects Borna disease virus replication in the nucleus. 30769121 2019
CUI: C0007140
Disease: Carcinosarcoma
Carcinosarcoma
0.010 Biomarker disease BEFREE Nevertheless, immunohistochemistry is the gold standard for the diagnosis of carcinosarcomas, since it has been demonstrated that CEA, EMA, pancreatin, chromogranin A, CD56 and synaptophysin staining are highly specific markers for the carcinomatous components, while desmin, vimentin and smooth muscle/sarcomeric actin show affinity for the sarcomatous elements. 30570870 2019
CUI: C0009171
Disease: Cocaine Abuse
Cocaine Abuse
0.010 AlteredExpression disease BEFREE Cytoskeletal changes initiated following cocaine abuse are regulated by the Rho family of GTPases with significant downstream activity in key actin binding proteins. 30623590 2019
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma
0.010 AlteredExpression disease BEFREE We show that RHOC, a GTPase controlling actin organization in response to extracellular stimuli, is upregulated in APA and promotes expression of the aldosterone synthase gene CYP11B2. 30580688 2019
CUI: C0011175
Disease: Dehydration
Dehydration
0.010 Biomarker phenotype BEFREE Periodic acid-Schiff and alpha-smooth muscle actin (α-SMA) staining before dehydration and after rehydration were performed to determine the presence of keratocytes and expression of α-SMA. 30681513 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.010 Biomarker disease BEFREE The present study aims to explore whether the common variants at the <i>ACTB</i> gene contribute to diabetic kidney disease (DKD) susceptibility in patients with type 2 diabetes mellitus (T2DM). 31396261 2019
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.010 AlteredExpression disease BEFREE Eosinophils increased α-smooth muscle actin expression in airway epithelial cells, which was attenuated by SPD treatment. 29663427 2019
CUI: C0018572
Disease: Hand, Foot and Mouth Disease
Hand, Foot and Mouth Disease
0.010 Biomarker disease BEFREE In summary, Our results showed that SAA and human β-actin (ACTB) may be served as a potential biomarker of the clinical diagnosis of severe HFMD. 30817906 2019
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.010 GeneticVariation disease BEFREE This study of the Actin G2 gene in patients with Hirschsprung disease explores a possible molecular basis abnormal muscle function and post-surgical pseudo-obstruction in a group of patients. 30885557 2019
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic
0.010 Biomarker disease BEFREE <b>Abbreviations</b> ACTB: actin, beta; CTSB: cathepsin B; EEA1: early endosome antigen 1; ESCRT: endosomal sorting complex required for transport; FHL3: familial hemophagocytic; lymphohistiocytosis type 3; HEX: hexosaminidase; HLH: hemophagocytic lymphohistiocytosis; LSD: lysosomal storage disorder; MEF: mouse embryonic fibroblast; SEM: standard errors of the mean; SNARE: soluble n-ethylmaleimide-sensitive-factor attachment receptor; STX: syntaxin; SYT7: synaptotagmin VII; TFE3: transcription factor E3; TFEB: transcription factor EB; TIRF: total internal reflection fluorescence ULK1: unc-51 like kinase 1; UNC13D: unc-13 homolog d; VAMP: vesicle-associate membrane protein; WT: wild-type. 30892133 2019