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ANO5 Muscle Disease.
Penttilä S, Vihola A, Palmio J, Udd B. Penttilä S, et al. 2012 Nov 29 [updated 2019 Aug 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Nov 29 [updated 2019 Aug 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23193613 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. ...Disease progression is slow in both the LGMD and distal forms; ambulation is pr …
CLINICAL CHARACTERISTICS: The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-i …
ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies.
Christiansen J, Güttsches AK, Schara-Schmidt U, Vorgerd M, Heute C, Preusse C, Stenzel W, Roos A. Christiansen J, et al. Genes Dis. 2022 Feb 14;9(6):1506-1520. doi: 10.1016/j.gendis.2022.01.001. eCollection 2022 Nov. Genes Dis. 2022. PMID: 36157496 Free PMC article. Review.
Anoctamin-5 (ANO5) is a multi-pass membrane protein localized to the sarcolemma and the sarcoplasmic reticulum. ...In addition, MRI data of four ANO5-patients (including a 10-year follow-up in one patient) are presented and discussed in the context of previously pub …
Anoctamin-5 (ANO5) is a multi-pass membrane protein localized to the sarcolemma and the sarcoplasmic reticulum. ...In addition, MRI d …
Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review.
Soontrapa P, Liewluck T. Soontrapa P, et al. Genes (Basel). 2022 Sep 27;13(10):1736. doi: 10.3390/genes13101736. Genes (Basel). 2022. PMID: 36292621 Free PMC article. Review.
Anoctaminopathy-5 refers to a group of hereditary skeletal muscle or bone disorders due to mutations in the anoctamin 5 (ANO5)-encoding gene, ANO5. ANO5 is a 913-amino acid protein of the anoctamin family that functions predominantly in phospholipid scramblin …
Anoctaminopathy-5 refers to a group of hereditary skeletal muscle or bone disorders due to mutations in the anoctamin 5 (ANO5)-encodi …
ANO5 ensures trafficking of annexins in wounded myofibers.
Foltz SJ, Cui YY, Choo HJ, Hartzell HC. Foltz SJ, et al. J Cell Biol. 2021 Mar 1;220(3):e202007059. doi: 10.1083/jcb.202007059. J Cell Biol. 2021. PMID: 33496727 Free PMC article.
Using myofibers from Ano5 knockout mice, we show that trafficking of several annexin proteins, which together form a cap at the site of injury, is altered upon loss of ANO5. ...Although ANO5 is a phospholipid scramblase, abnormal repair is rescued by overexpr …
Using myofibers from Ano5 knockout mice, we show that trafficking of several annexin proteins, which together form a cap at the site …
Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia.
Li X, Wang L, Wang H, Qin A, Qin X. Li X, et al. NPJ Genom Med. 2022 Aug 18;7(1):48. doi: 10.1038/s41525-022-00312-1. NPJ Genom Med. 2022. PMID: 35982081 Free PMC article.
However, the coordinated mechanism by which ANO5 mediates bone homeostasis in GDD remains poorly defined. Here, we show that ablation of Ano5 reduced intracellular calcium transients, leading to defects in osteogenesis and osteoclastogenesis and thus bone dysplasia. …
However, the coordinated mechanism by which ANO5 mediates bone homeostasis in GDD remains poorly defined. Here, we show that ablation …
ANO5 in membrane repair - Status: "It's complicated".
Gerke V, Rescher U. Gerke V, et al. Cell Calcium. 2021 Apr 27;97:102415. doi: 10.1016/j.ceca.2021.102415. Online ahead of print. Cell Calcium. 2021. PMID: 33934044
ANO5/TMEM16E gene mutations are associated with myopathies. Two recent publications in the Journal of Cell Biology now both confirm that ANO5 deficiency results in defective plasma membrane repair and Ca(2+) overload. But the big question is whether ANO5 acts
ANO5/TMEM16E gene mutations are associated with myopathies. Two recent publications in the Journal of Cell Biology now both confirm t
Lidocaine Suppresses Gastric Cancer Development Through Circ_ANO5/miR-21-5p/LIFR Axis.
Guan E, Liu H, Xu N. Guan E, et al. Dig Dis Sci. 2022 Jun;67(6):2244-2256. doi: 10.1007/s10620-021-07055-6. Epub 2021 May 29. Dig Dis Sci. 2022. PMID: 34050852
Flow cytometry was implemented to monitor cell apoptosis. Relative expression of circular RNA ANO5 (circ_ANO5), microRNA (miR)-21-5p and Leukemia inhibitory factor receptor (LIFR) was examined by quantitative reverse transcription-polymerase chain reaction. ...Addit …
Flow cytometry was implemented to monitor cell apoptosis. Relative expression of circular RNA ANO5 (circ_ANO5), microRNA (miR) …
Panorama of the distal myopathies.
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Savarese M, et al. Acta Myol. 2020 Dec 1;39(4):245-265. doi: 10.36185/2532-1900-028. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458580 Free PMC article. Review.
Currently, almost 20 genes (ACTN2, CAV3, CRYAB, DNAJB6, DNM2, FLNC, HNRNPA1, HSPB8, KHLH9, LDB3, MATR3, MB, MYOT, PLIN4, TIA1, VCP, NOTCH2NLC, LRP12, GIPS1) have been associated with an autosomal dominant form of distal myopathy. Pathogenic changes in four genes (ADSSL, ANO5
Currently, almost 20 genes (ACTN2, CAV3, CRYAB, DNAJB6, DNM2, FLNC, HNRNPA1, HSPB8, KHLH9, LDB3, MATR3, MB, MYOT, PLIN4, TIA1, VCP, NOTCH2NL …
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M. Nallamilli BRR, et al. Ann Clin Transl Neurol. 2018 Dec 1;5(12):1574-1587. doi: 10.1002/acn3.649. eCollection 2018 Dec. Ann Clin Transl Neurol. 2018. PMID: 30564623 Free PMC article.
RESULTS: Molecular diagnosis was established in 27% (1259 cases; 95% CI, 26-29%) of the patients with major contributing genes to LGMD phenotypes being: CAPN3(17%), DYSF(16%), FKRP(9%) and ANO5(7%). We observed an increased prevalence of genetically confirmed late-onset Po …
RESULTS: Molecular diagnosis was established in 27% (1259 cases; 95% CI, 26-29%) of the patients with major contributing genes to LGMD pheno …
BVES is a novel interactor of ANO5 and regulates myoblast differentiation.
Li H, Xu L, Gao Y, Zuo Y, Yang Z, Zhao L, Chen Z, Guo S, Han R. Li H, et al. Cell Biosci. 2021 Dec 28;11(1):222. doi: 10.1186/s13578-021-00735-w. Cell Biosci. 2021. PMID: 34963485 Free PMC article.
However, little has been known about the interactome of ANO5 and its cellular functions. RESULTS: In this study, we exploited a proximal labeling approach to identify the interacting proteins of ANO5 in C2C12 myoblasts stably expressing ANO5 tagged with BioID …
However, little has been known about the interactome of ANO5 and its cellular functions. RESULTS: In this study, we exploited a proxi …
170 results