ACVR1B, activin A receptor type 1B, 91

N. diseases: 41; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 Biomarker disease BEFREE Here, we revealed that Activin A significantly elevated in endometriotic peritoneal fluid and activin receptor-like kinase (ALK4), the specific receptor for Activin A, obviously enhanced in ectopic endometrial MSCs compared with eutopic endometrial MSCs from women with or without endometriosis. 31101053 2019
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.010 AlteredExpression disease BEFREE ACVR1B expression levels exhibit a nominally significant association with emphysema distribution. 30335480 2019
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
0.010 AlteredExpression disease BEFREE Our results suggest that sulforaphane may control the malignant proliferation of CSCs in TNBC via Cripto-mediated pathway by either suppressing its expression and/or by inhibiting Cripto/Alk4 protein complex formation. 30679159 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.010 AlteredExpression disease BEFREE Our results suggest that sulforaphane may control the malignant proliferation of CSCs in TNBC via Cripto-mediated pathway by either suppressing its expression and/or by inhibiting Cripto/Alk4 protein complex formation. 30679159 2019
Malignant neoplasm of urinary bladder
0.010 AlteredExpression disease BEFREE Additionally, the ALK4/7 receptor blocker SB431542 reversed the promotive effects of Nodal overexpression on bladder cancer cell proliferation, migration, and invasion. 30323631 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 AlteredExpression disease BEFREE Additionally, the ALK4/7 receptor blocker SB431542 reversed the promotive effects of Nodal overexpression on bladder cancer cell proliferation, migration, and invasion. 30323631 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 GeneticVariation disease BEFREE We report an EML4-ALK4 translocation in a 50-year-old patient with squamous cell carcinoma and an 18 pack-year smoking history. 29610932 2018
CUI: C0017638
Disease: Glioma
Glioma
0.010 Biomarker disease BEFREE Thus, ALK4 may be a potential therapeutic target for the treatment of glioma. 29278854 2018
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.010 Biomarker group BEFREE These results together suggest that the HA-CD44 and activin-A-ALK4 pathways differentially regulate the spheroid formation and maintenance of ALDH<sup>bright</sup> CICs in MM cells, and that both pathways play critical roles in tumor growth in immunodeficient hosts. 30061637 2018
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine
0.010 Biomarker disease BEFREE Exome data analysis revealed significantly mutated genes previously linked to SBA (TP53, KRAS, APC, SMAD4, and BRAF), recently reported potential driver genes (SOX9, ATM, and ARID2), as well as novel candidate driver genes, such as ACVR2A, ACVR1B, BRCA2, and SMARCA4. 29522538 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.010 Biomarker disease BEFREE Our findings provide a novel therapeutic option for MM that targets signaling pathways that promote the CIC compartment through CD44 and ALK4. 30061637 2018
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.010 AlteredExpression disease BEFREE Additionally, the ALK4/7 receptor blocker SB431542 reversed the promotive effects of Nodal overexpression on bladder cancer cell proliferation, migration, and invasion. 30323631 2018
CUI: C0004096
Disease: Asthma
Asthma
0.010 Biomarker disease BEFREE No difference in immunostaining for activin receptor type IB was observed between patients with SRA and those with mild-to-moderate asthma. 27807906 2017
CUI: C0741276
Disease: ATRIAL ENLARGEMENT
ATRIAL ENLARGEMENT
0.010 AlteredExpression disease BEFREE After angiotensin-II (Ang-II) stimulation which mimicked atrial fibrosis progression, ALK4-deficient mice showed lower expression of ALK4 in atriums, reduced activation of atrial fibroblasts, blunted atrial enlargement and atrial fibrosis, and further reduced AF vulnerability upon right atrial electrophysiological studies as compared to wild-type littermates. 28639003 2017
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
0.010 Biomarker disease BEFREE These results indicate that partial inhibition of ALK4 may reduce MI-induced CF, suggesting ALK4 as a novel target for inhibition of unfavorable CF and for preservation of LV systolic function induced by not only pressure-overload but also MI. 28214509 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 GeneticVariation group BEFREE Human pancreatic ductal adenocarcinomas contain somatic mutations in the activin A receptor type IB (ACVR1B) gene, indicating that ACVR1B could be a suppressor of pancreatic tumorigenesis. 26408346 2016
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.010 GeneticVariation disease BEFREE We disrupted Acvr1b specifically in pancreata of mice (Acvr1b(flox/flox);Pdx1-Cre mice) and crossed them with LSL-KRAS(G12D) mice, which express an activated form of KRAS and develop spontaneous pancreatic tumors. 26408346 2016
Pancreatic Intraductal Papillary Mucinous Neoplasm
0.010 GeneticVariation disease BEFREE Disruption of Acvr1b in LSL-KRAS(G12D);Pdx1-Cre mice accelerated the growth of pancreatic IPMNs compared with LSL-KRAS(G12D);Pdx1-Cre mice, but did not alter growth of pancreatic intraepithelial neoplasias. 26408346 2016
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis
0.010 AlteredExpression phenotype BEFREE Our findings define a regulatory role of miR-98 in tumor angiogenesis and invasion through repressed ALK4 and MMP11 expression. 23211491 2012
CUI: C0036631
Disease: Seminoma
Seminoma
0.010 Biomarker disease BEFREE Activin type I (ALK2 and ALK4) and type II (ActRIIA and ActRIIB) receptors were detected using immunohistochemistry on Bouins fixed sections of normal, carcinoma in situ (CIS), seminoma, non-seminoma and gonadotropin-deprived human testis. 18077314 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 AlteredExpression disease BEFREE Cripto-1 (CR-1) is an epidermal growth factor (EGF)-CFC protein that has been shown to signal through nodal/Alk-4, PI3K/Akt, and/or ras/raf/MEK/MAPK pathways in mammalian cells, and that is frequently expressed in human primary breast carcinomas. 14584041 2004
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.010 AlteredExpression disease BEFREE Semiquantitative reverse transcription-polymerase chain reaction (RT-PCR) demonstrated a significant threefold downregulation of alk4-1 receptors in papillary (n = 25) and follicular (n = 18) thyroid cancers as compared to normal thyroids (n = 12) (p < 0.001). 11272093 2001
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.010 AlteredExpression disease BEFREE Semiquantitative reverse transcription-polymerase chain reaction (RT-PCR) demonstrated a significant threefold downregulation of alk4-1 receptors in papillary (n = 25) and follicular (n = 18) thyroid cancers as compared to normal thyroids (n = 12) (p < 0.001). 11272093 2001
CUI: C0018021
Disease: Goiter
Goiter
0.010 AlteredExpression phenotype BEFREE Semi-quantitative RT-PCR revealed a significant 2.5-fold decrease of mRNA for alk4-1 type I activin receptors in goiter as compared to normal thyroid (p < 0.05), whereas expression of the type II receptor actRII was unchanged. 11069203 2000
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.010 AlteredExpression disease BEFREE Both type I and type II activin receptor (ActR-I, ActR-IB and ActR-II) mRNA expression was also detectable in the pheochromocytoma tissues. 10810314 2000