| ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase. | ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase.
Chinnam NB, Thapar R, Arvai AS, Sarker AH, Soll JM, Paul T, Syed A, Rosenberg DJ, Hammel M, Bacolla A, Katsonis P, Asthana A, Tsai MS, Ivanov I, Lichtarge O, Silverman RH, Mosammaparast N, Tsutakawa SE, Tainer JA., Free PMC Article | 07/23/2024 |
| Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene. | Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
Sharova M, Guseva D, Kurenkov A, Novoselova O, Murtazina A, Skoblov M. | 10/29/2022 |
| Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2). | Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Rosano KK, Wegner DJ, Shinawi M, Baldridge D, Bucelli RC, Dahiya S, White FV, Willing MC, McAllister W, Taft RJ, Bluske K, Buchanan A, Cole FS, Wambach JA., Free PMC Article | 01/1/2022 |
| Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases. | Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.
Meunier J, Villar-Quiles RN, Duband-Goulet I, Ferreiro A., Free PMC Article | 07/17/2021 |
| A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. | A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
Giuffrida MG, Mastromoro G, Guida V, Truglio M, Fabbretti M, Torres B, Mazza T, De Luca A, Roggini M, Bernardini L, Pizzuti A. | 01/9/2021 |
| Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women. | Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women.
Cho HW, Jin HS, Eom YB. | 11/28/2020 |
| this work expands the ASCC1 mutation spectrum, sheds light on the muscle histology of the disorder and emphasises the physiological importance of the ASC-1 complex in fetal muscle and bone development. | Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.
Böhm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB, Laporte J. | 06/13/2020 |
| ASCC1 knockout through a CRISPR/Cas9 approach results in alkylation damage sensitivity in a manner epistatic with ASCC3. | RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage.
Soll JM, Brickner JR, Mudge MC, Mosammaparast N., Free PMC Article | 03/9/2019 |
| Our patient was also found to have a homozygous frameshift variant (c.157dupG, p.Glu53Glyfs*19) in ASCC1 , thereby representing the second known case. This confirms ASCC1 involvement in a severe neuromuscular disease lying within the spinal muscular atrophy or primary muscle disease spectra | The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.
Oliveira J, Martins M, Pinto Leite R, Sousa M, Santos R. | 05/19/2018 |
| ASCC1 inhibits NF-kappaB activation and a truncated and inactive variant of ASCC1 is associated with a more severe disease, which could have clinical value for assessing the progression and prognosis of Rheumatoid Arthritis. | A Truncated Variant of ASCC1, a Novel Inhibitor of NF-κB, Is Associated with Disease Severity in Patients with Rheumatoid Arthritis.
Torices S, Alvarez-Rodríguez L, Grande L, Varela I, Muñoz P, Pascual D, Balsa A, López-Hoyos M, Martinez-Taboada V, Fernández-Luna JL. | 03/19/2016 |
| Three major genes, MSR1, ASCC1, and CTHRC1 were associated with Barrett esophagus/esophageal adenocarcinoma | Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.
Orloff M, Peterson C, He X, Ganapathi S, Heald B, Yang YR, Bebek G, Romigh T, Song JH, Wu W, David S, Cheng Y, Meltzer SJ, Eng C., Free PMC Article | 07/30/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetic variation in healthy oldest-old.
Halaschek-Wiener J, Amirabbasi-Beik M, Monfared N, Pieczyk M, Sailer C, Kollar A, Thomas R, Agalaridis G, Yamada S, Oliveira L, Collins JA, Meneilly G, Marra MA, Madden KM, Le ND, Connors JM, Brooks-Wilson AR. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A. | 09/16/2009 |
| Gastrin activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1. | Gastrin activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1.
Almeida-Vega S, Catlow K, Kenny S, Dimaline R, Varro A., Free PMC Article | 01/21/2010 |