Cargando…

Expanding the genotypic spectrum of ACTG2-related visceral myopathy

Visceral myopathies (VMs) encompass a spectrum of disorders characterized by chronic disruption of gastrointestinal function, with or without urinary system involvement. Pathogenic missense variation in smooth muscle γ-actin gene (ACTG2) is associated with autosomal dominant VM. Whole-genome sequenc...

Descripción completa

Detalles Bibliográficos
Autores principales:	James, Kiely N., Lau, Megan, Shayan, Katayoon, Lenberg, Jerica, Mardach, Rebecca, Ignacio, Romeo, Halbach, Jonathan, Choi, Lillian, Kumar, Soma, Ellsworth, Katarzyna A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2021
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208046/ https://www.ncbi.nlm.nih.gov/pubmed/33883208 http://dx.doi.org/10.1101/mcs.a006085

Ejemplares similares

Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers
por: Mori, Mari, et al.
Publicado: (2022)

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome
por: Dawidziuk, Mateusz, et al.
Publicado: (2022)

Visceral myopathy diagnosed by a de novo ACTG2 mutation in a patient with chronic intestinal pseudo-obstruction—a case report
por: Xiong, Xiaoyu, et al.
Publicado: (2021)

Nucleotide- and Protein-Dependent Functions of Actg1
por: Sundby, Lauren J., et al.
Publicado: (2022)

Rare case of visceral myopathy
por: Dreyer, Niloofar Sherazi, et al.
Publicado: (2021)

Misato underlies visceral myopathy in Drosophila
por: Min, Soohong, et al.
Publicado: (2017)

Continuing or adding IL-2 in patients treated with antiretroviral therapy (ACTG Protocol A5051, a rollover trial of ACTG Protocol A328)
por: Bosch, Ronald J, et al.
Publicado: (2010)

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies
por: Ruggieri, Alessandra, et al.
Publicado: (2016)

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma
por: Rainger, Joe, et al.
Publicado: (2017)

ACTG1 and TLR3 are biomarkers for alcohol-associated hepatocellular carcinoma
por: Gao, Bing, et al.
Publicado: (2019)

RRAD suppresses the Warburg effect by downregulating ACTG1 in hepatocellular carcinoma
por: Yan, Yingcai, et al.
Publicado: (2019)

ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis
por: Hahn, Jong Woo, et al.
Publicado: (2022)

Biomarkers in Inflammatory Myopathies—An Expanded Definition
por: Benveniste, Olivier, et al.
Publicado: (2019)

Visceral Myopathy Presenting as Acute Appendicitis and Ogilvie Syndrome
por: Kharbuja, Punyaram, et al.
Publicado: (2013)

Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
por: Göbel, Theresa, et al.
Publicado: (2022)

2,3,7,8-Tetrachlorodibenzo-p-dioxin Slows the Progression of Experimental Cutaneous Leishmaniasis in Susceptible BALB/c and SCID Mice
por: DeKrey, Gregory K., et al.
Publicado: (2013)

A Novel Actin mRNA Splice Variant Regulates ACTG1 Expression
por: Drummond, Meghan C., et al.
Publicado: (2013)

Genomic Amplification and Functional Dependency of the Gamma Actin Gene ACTG1 in Uterine Cancer
por: Richter, Camden, et al.
Publicado: (2020)

Changes in lipidomic profile by anti-retroviral treatment regimen: An ACTG 5257 ancillary study
por: Chaudhary, Ninad S., et al.
Publicado: (2021)

Exosomal PGAM1 promotes prostate cancer angiogenesis and metastasis by interacting with ACTG1
por: Luo, Jun-qi, et al.
Publicado: (2023)

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
por: Rivière, Jean-Baptiste, et al.
Publicado: (2012)

Pseudo-obstruction–inducing ACTG2(R257C) alters actin organization and function
por: Hashmi, Sohaib Khalid, et al.
Publicado: (2020)

Acute Abdomen and Perforated Bowel with a Rare Pathology: Nonfamilial Visceral Myopathy
por: Burcharth, Jakob, et al.
Publicado: (2011)

Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum
por: Lenberg, Jerica L., et al.
Publicado: (2019)

Economic modeling of the combined effects of HIV-disease, cholesterol and lipoatrophy based on ACTG 5142 trial data
por: Simpson, Kit N, et al.
Publicado: (2011)

Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation
por: Yuan, Yongyi, et al.
Publicado: (2016)

Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia
por: Vontell, Regina, et al.
Publicado: (2019)

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature
por: Sorrentino, Ugo, et al.
Publicado: (2021)

Mass spectrometry imaging of hair identifies daily maraviroc adherence in HPTN 069/ACTG A5305
por: Rosen, Elias P., et al.
Publicado: (2023)

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene
por: Ignasiak-Budzyńska, Katarzyna, et al.
Publicado: (2021)

Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting
por: Viti, Federica, et al.
Publicado: (2023)

A plausible role for actin gamma smooth muscle 2 (ACTG2) in small intestinal neuroendocrine tumorigenesis
por: Edfeldt, Katarina, et al.
Publicado: (2016)

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss
por: Miyajima, Hiroki, et al.
Publicado: (2020)

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum
por: Krenn, Martin, et al.
Publicado: (2017)

Acute large bowel pseudo-obstruction due to atrophic visceral myopathy: A case report
por: Wrenn, Sean M., et al.
Publicado: (2017)

Hollow Visceral Myopathy, a Rare Gastrointestinal Disorder: A Case Report and Short Review
por: Dahiya, Dushyant Singh, et al.
Publicado: (2021)

Opposite T(3) Response of ACTG1–FOS Subnetwork Differentiate Tailfin Fate in Xenopus Tadpole and Post-hatching Axolotl
por: Kerdivel, Gwenneg, et al.
Publicado: (2019)

Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function
por: Hashmi, Sohaib K., et al.
Publicado: (2023)

Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre
por: Zhang, Kai‐Yue, et al.
Publicado: (2021)

Genotype-phenotype correlations in recessive RYR1-related myopathies
por: Amburgey, Kimberly, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_15lb1d08qq5fv8mkaji6s2v2je