ACTG2 visceral myopathy is a disorder of smooth muscle dysfunction ... in this GeneReview are known to be associated with mutation of ACTG2. ... <看更多>
「actg2 mutation」的推薦目錄：
actg2 mutation 在 ACTG2 - Wikipedia 的相關結果
Actin, gamma-enteric smooth muscle is a protein that in humans is encoded by the ACTG2 gene. ACTG2. PBB Protein ACTA1 image.jpg. Identifiers. ... <看更多>
actg2 mutation 在 Variants of the ACTG2 gene correlate with degree of severity ... 的相關結果
Variants of the ACTG2 gene, encoding gamma 2 enteric actin, a protein crucial for correct enteric muscle contraction, have been found in CIPO ... ... <看更多>
actg2 mutation 在 ACTG2-Associated Visceral Myopathy With ... - SAGE Journals 的相關結果
Primary visceral myopathy caused by a pathogenic mutation in the gene encoding the enteric smooth muscle actin gamma 2 (ACTG2) affects gastrointestinal and ... ... <看更多>
actg2 mutation 在 A Novel Mutation in ACTG2 Gene in Mother with Chronic ... 的相關結果
Background. A novel mutation in the ACTG2 gene is described in a pregnant patient followed up for chronic intestinal pseudoobstruction (CIPO) during pregnancy ... ... <看更多>
actg2 mutation 在 ACTG2 Gene - GeneCards | ACTH Protein | ACTH Antibody 的相關結果
GeneCards Summary for ACTG2 Gene ... ACTG2 (Actin Gamma 2, Smooth Muscle) is a Protein Coding gene. Diseases associated with ACTG2 include ... ... <看更多>
actg2 mutation 在 ACTIN, GAMMA-2, SMOOTH MUSCLE, ENTERIC; ACTG2 ... 的相關結果
(2016) identified heterozygosity for the R178C mutation in the ACTG2 gene. The mutation was shown to have arisen de novo in the male proband, as it was not ... ... <看更多>
actg2 mutation 在 Heterozygous De Novo and Inherited Mutations in the ... - PLOS 的相關結果
ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins ... ... <看更多>
actg2 mutation 在 Visceral myopathy diagnosed by a de novo ACTG2 mutation ... 的相關結果
The smooth muscle actin γ-2 gene (ACTG2) is an autosomal dominant gene that is most commonly associated with the pathogenesis of visceral myopathy. Mutation of ... ... <看更多>
actg2 mutation 在 New Insights into the Genetics of Fetal Megacystis: ACTG2 ... 的相關結果
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal ... ... <看更多>
actg2 mutation 在 Autosomal Recessive ACTG2-Related Visceral Myopathy in ... 的相關結果
The spectrum of the ACTG2-related disease typically includes MMIHS with urinary tract involvement such as megacystis and megaureter, recurrent urinary tract ... ... <看更多>
actg2 mutation 在 ACTG2 variants discovered as a reliable diagnostic marker ... 的相關結果
A study from the Wangler lab published in Human Mutation identifies ACTG2 gene as the primary determinant of severe symptoms and worse ... ... <看更多>
actg2 mutation 在 ACTG2-related disorders - NORD (National Organization for ... 的相關結果
ACTG2 -related disorders are a subset of visceral myopathy (a condition where the ... It is caused by alterations (mutations) of the ACTG2 gene and is ... ... <看更多>
actg2 mutation 在 ACTG2 variants impair actin polymerization in sporadic ... 的相關結果
We systematically compared the structure of the entire ACTG2 protein or its main relevant sites, for wild type (WT) and mutants during 10 ns (Tables 3–6). ... <看更多>
actg2 mutation 在 Role Of Actg2 Mutations In Visceral Myopathy 的相關結果
ABSTRACTROLE OF ACTG2 MUTATIONS IN VISCERAL MYOPATHY Sohaib K. Hashmi Robert O. Heuckeroth Visceral myopathy is a debilitating condition characterized by ... ... <看更多>
actg2 mutation 在 ACTG2 Gene | Encyclopedia MDPI 的相關結果
The ACTG2 gene mutations that cause intestinal pseudo-obstruction are thought to hinder the formation of actin filaments in the cytoskeleton and reduce the ... ... <看更多>
actg2 mutation 在 Phenotypic diversity in clinical and manometric characteristics ... 的相關結果
The ACTG2 gene encodes for the ᵞ-2 actin protein in smooth muscle, specifically in the intestinal and urogenital tracts, and mutations in ACTG2 gave been found ... ... <看更多>
actg2 mutation 在 Pseudo-obstruction–inducing ACTG2 alters actin organization ... 的相關結果
Actin γ 2, smooth muscle (ACTG2) R257C mutation is the most common genetic cause of visceral myopathy. Individuals with ACTG2 mutations endure ... ... <看更多>
actg2 mutation 在 Irregular bladder smooth muscle actin-gamma 2 expression in ... 的相關結果
ACTG2 -mutation, functional bladder atony, MMIHS, urology, myopathy ... which has been associated with mutations in the actin gamma 2 (ACTG2) gene [3]. ... <看更多>
actg2 mutation 在 <i>ACTG2</i> Variants in Pediatric Chronic Intestinal Pseudo ... 的相關結果
Heterozygous de novo and inherited mutations in the smooth muscle actin ( ACTG2 ) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS ... ... <看更多>
actg2 mutation 在 Diagnosis of Chronic Intestinal Pseudo-obstruction and ... 的相關結果
to determine the efficacy of sequencing the actin g-2 (ACTG2) gene for diagnosis. In addition, the goal was to determine how often a mutation would. ... <看更多>
actg2 mutation 在 Role of ACTG2 Mutations in Visceral Myopathy - Dimensions 的相關結果
This work is focused on the most commonly identified ACTG2 mutation (arginine 257 to cysteine, R257C). The goal is to determine how this mutation affects ... ... <看更多>
actg2 mutation 在 The ACTG2 gene homepage - Global Variome shared LOVD 的相關結果
Gene symbol, ACTG2. Gene name, actin, gamma 2, smooth muscle, enteric. Chromosome, 2. Chromosomal band, p13.1. Imprinted, Unknown. ... <看更多>
actg2 mutation 在 ACTG2-Associated Visceral Myopathy ... - Semantic Scholar 的相關結果
A case of pediatric onset chronic intestinal pseudoobstruction associated with a novel missense ACTG2 mutation c.439G>T/p. ... <看更多>
actg2 mutation 在 Actg2 em1(IMPC)J - Mouse Genome Informatics 的相關結果
Mutation details: This allele from project Actg2-8089J-M2448 was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences ... ... <看更多>
actg2 mutation 在 De novo ACTG2 mutations cause congenital ... - Europe PMC 的相關結果
Through whole-exome sequencing in a child with MMIHS, we identified a de novo mutation, p.R178L, in the gene encoding the smooth muscle gamma-2 actin, ACTG2. We ... ... <看更多>
actg2 mutation 在 Visceral myopathy diagnosed by a de novo ACTG2 mutation ... 的相關結果
Here, we present a case of pediatric intestinal pseudo-obstruction associated with a novel missense ACTG2 mutation, c.588G>C/p.E196D. His pare. ... <看更多>
actg2 mutation 在 Title: The diverse phenotype of ACTG2 mutation - PROSPERO 的相關結果
Actin Gamma 2 Smooth Muscle gene (ACTG2) mutation as a genetic determinant of ... ACTG2 mutations as a monogenic cause of Megacystis-microcolon-intestinal ... ... <看更多>
actg2 mutation 在 Expanding the genotypic spectrum of ACTG2-related visceral ... 的相關結果
The disease progression for ACTG2-related visceral myopathy appears to be ... De novo ACTG2 mutations cause congenital distended bladder, ... ... <看更多>
actg2 mutation 在 Characteristics of the ACTG2 mutations in the MMIHS cohort. 的相關結果
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. ... <看更多>
actg2 mutation 在 Recurrent arginine substitutions in the ACTG2 gene are the ... 的相關結果
Strikingly, missense mutations in five conserved arginine residues involving CpG dinucleotides accounted for 49% (26/53) of disease in the ... ... <看更多>
actg2 mutation 在 Role of ACTG2 Mutations in Visceral Myopathy - Grantome 的相關結果
Myopathic chronic intestinal pseudo-obstruction (CIPO) and Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) are life-threatening bowel ... ... <看更多>
actg2 mutation 在 Cellular and proteomic approaches to study the role of ACTG2 ... 的相關結果
Cellular and proteomic approaches to study the role of ACTG2 mutation-mediated misfolding and protein aggregation as druggable targets in the pathogenesis ... ... <看更多>
actg2 mutation 在 Medline ® Abstract for Reference 27 of 'Chronic intestinal ... 的相關結果
In addition, the goal was to determine how often a mutation would be found in our ... Moreover, a mutational hotspot in the ACTG2 gene was recognized. ... <看更多>
actg2 mutation 在 HGMD® gene result 的相關結果
Gene symbol, Chromosomal location, Gene name, Mutation total, Log in. ACTG2, 2p13.1, Actin gamma 2, smooth muscle, 19 ... ... <看更多>
actg2 mutation 在 Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in ... 的相關結果
Arg178Ser heterozygous de novo mutation detected in the ACTG2 gene. Normal immature ganglion cells, normal calretinin punctate positivity, ... ... <看更多>
actg2 mutation 在 ACTG2 - Orphanet 的相關結果
ACTG2 - actin gamma 2, smooth muscle ... Disease-causing germline mutation(s) in Familial visceral myopathy ORPHA:2604; Disease-causing germline mutation(s) ... ... <看更多>
actg2 mutation 在 Heterozygous De Novo and Inherited Mutations in the Smooth ... 的相關結果
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome. ... <看更多>
actg2 mutation 在 Mutation overview page ACTG2 - p.G47* ( Substitution 的相關結果
Genomic Mutation ID · COSV61829487 ; Legacy Identifier · COSM6092338 ; Gene name: ACTG2 ; AA mutation: p.G47* (Substitution - Nonsense) ; CDS mutation: c. ... <看更多>
actg2 mutation 在 De novo ACTG2 mutations cause ... - Scholarship@Miami 的相關結果
We subsequently detected another de novo ACTG2 mutation, p. ... Actg2 transcripts were primarily found in murine urinary bladder and intestinal tissues. ... <看更多>
actg2 mutation 在 ACTG2 Gene 的相關結果
cell lines with ACTG2 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. LINCS L1000 CMAP Signatures of ... ... <看更多>
actg2 mutation 在 De novo ACTG2 mutations cause congenital ... - Springer Link 的相關結果
Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS) is characterized by prenatal-onset distended urinary bladder with ... ... <看更多>
actg2 mutation 在 POMS: DI 23022.233 - Megacystis Microcolon Intestinal ... - SSA 的相關結果
... of MMIH are caused by spontaneous mutations in the ACTG2 gene. ... documenting mutation(s) in the ACTG2 gene confirms the diagnosis. ... <看更多>
actg2 mutation 在 ACTG2 cDNA ORF clone, Homo sapiens(human) - Gene 的相關結果
R257 variant in the ACTG2 appear to be more frequent in populations of Asian ancestry; mutation of this locus could cause alterations of the intestinal and ... ... <看更多>
actg2 mutation 在 Heterozygous De Novo and Inherited Mutations in the Smooth ... 的相關結果
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal ... ... <看更多>
actg2 mutation 在 Heterozygous de novo and inherited mutations in the smooth ... 的相關結果
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. ... <看更多>
actg2 mutation 在 Variants in ACTG2 underlie a substantial number of ... 的相關結果
We also identified a previously unpublished missense mutation (c.443C>T, p. ... Conclusions and inferences: ACTG2 mutations represent a ... ... <看更多>
actg2 mutation 在 Mini-Review - J-Stage 的相關結果
of cases associated with seven pathogenic genes (ACTG2, MYH11, ... ACTG2 mutations, 20%, 20% and 60% among the 10 patients with MYH11 ... ... <看更多>
actg2 mutation 在 Myocardin-dependent Activation of the CArG Box-rich Smooth ... 的相關結果
pendent ACTG2 promoter stimulation. Mutation of an adjacent binding site for NKX3.1 reduces MYOCD-dependent transacti- vation of the ACTG2 promoter. ... <看更多>
actg2 mutation 在 Visceral myopathy: clinical syndromes, genetics ... 的相關結果
Most disease-causing ACTG2 mutations are heterozygous ... with MMIHS had an ACTG2 R178C mutation inherited from their mother. ... <看更多>
actg2 mutation 在 ACTG2 (actin gamma 2, smooth muscle) 的相關結果
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis ... ... <看更多>
actg2 mutation 在 A plausible role for actin gamma smooth muscle 2 (ACTG2) in ... 的相關結果
A putative role for TCEB3C (elongin A3), located at 18q21, as tumor suppressor gene in SI-NETs was recently suggested [7]. The mutation rate is ... ... <看更多>
actg2 mutation 在 ACTG2 Gene Mutation and Clinical Features in Patients with ... 的相關結果
Detailed Record ; Source: Gut & Liver ; Document Type: Article ; Keywords: ACTG2 mutation. Chronic intestinal pseudo-obstruction. Abstract: Background/Aims ... ... <看更多>
actg2 mutation 在 PathPlus™ACTG2 Antibodies - LSBio 的相關結果
Smooth muscle gamma actin (ACTG2) is a protein that is a component of the cytoskeleton in smooth muscle and is involved in cell motility. Mutations of the ... ... <看更多>
actg2 mutation 在 Loss of LMOD1 impairs smooth muscle ... - PNAS 的相關結果
mutations in actin gamma 2 (ACTG2), a smooth muscle contractile ... mutation showed loss of LMOD1 protein and pathology consistent. ... <看更多>
actg2 mutation 在 ACTG2 - TumorPortal 的相關結果
No community annotations yet for ACTG2. Sort mutations by: Tumor type. Mutation type. Position. Straightedge cursor. Expand ... ... <看更多>
actg2 mutation 在 (ACTA3) gene among African-American - JSTOR 的相關結果
This study focused on a specific RFLP occurring within the human ACTG2. (formerly ACTA3) gene. ... If a particular mutation occurs in greater. ... <看更多>
actg2 mutation 在 Highlights on Genetic Mechanisms Underlying Chronic ... - MDPI 的相關結果
mutations in TYMP, a gene coding for thymidine phosphorylase, ... versely, others with the same ACTG2 mutation may exhibit a severe form of ... ... <看更多>
actg2 mutation 在 ACTG2 | Homo sapiens gene - Alliance of Genome Resources 的相關結果
Species: Homo sapiens; Symbol: ACTG2; Name: actin gamma 2, smooth muscle; Synonyms. ACT; ACTA3. Show All 17. Biotype: protein coding gene ... ... <看更多>
actg2 mutation 在 ACTG2 Antibodies 的相關結果
Order monoclonal and polyclonal ACTG2 antibodies for many applications. ... "New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, ... ... <看更多>
actg2 mutation 在 Heterozygous de novo and inherited mutations in the smooth ... 的相關結果
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. ... <看更多>
actg2 mutation 在 PDF - Frontline Gastroenterology 的相關結果
ACTG2 mutation has been identified in 44.1% of cases of. MMIHS making it the commonest known genetic cause of. MMIHS. ACTG2 affects actin g ... ... <看更多>
actg2 mutation 在 ACTG2 (mouse) - PhosphoSitePlus 的相關結果
Somatic Cancer Mutations ... ACTG2 Actins are highly conserved proteins that are involved in various types of cell motility and are ... Gene Symbols: Actg2. ... <看更多>
actg2 mutation 在 Gene: ACTG2 (OTTHUMG00000129813) - Homo sapiens 的相關結果
ACTG2 -009, OTTHUMT00000328091.2, 594, 52aa. Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents ... ... <看更多>
actg2 mutation 在 Novel ACTG2 variants disclose allelic heterogeneity and bi ... 的相關結果
Variants in the ACTG2 gene, encoding a protein crucial for correct enteric muscle ... Models, Molecular; Molecular Diagnostic Techniques; Mutation, Missense ... ... <看更多>
actg2 mutation 在 JNM J Neurogastroenterol Motil, Vol. 28 No. 1 January, 2022 的相關結果
ultrasonography, genetic testing of ACTG2 should be considered. ... man Gene Mutation Database and ClinVar were used to search for. ... <看更多>
actg2 mutation 在 Actg2 Mouse Gene Details | actin, gamma 2, smooth muscle ... 的相關結果
Human diseases caused by Actg2 mutations. The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease ... ... <看更多>
actg2 mutation 在 ACTG2遺伝子における再発性アルギニン置換は、内臓筋症の ... 的相關結果
ACTG2 遺伝子における再発性アルギニン置換は、内臓筋症の疾患負担と重症度の主要なドライバー ... A novel mutation in ACTG2 gene in mother with chronic intestinal ... ... <看更多>
actg2 mutation 在 ACTG2 protein (human) - STRING interaction network 的相關結果
ACTG2, Actin, gamma 2, smooth muscle, enteric; Actin, gamma-enteric smooth muscle; Actins are highly conserved proteins that are involved in various types ... ... <看更多>
actg2 mutation 在 anti-Homo sapiens (Human) ACTG2 Antibody raised in Rabbit 的相關結果
anti-ACTG2 Antibody reacting with Rabbit and identified with ELISA, WB, IHC. ... Moreover, a mutational hotspot in the ACTG2 gene was recognized. ... <看更多>
actg2 mutation 在 LINC01278 Sponges miR‐500b‐5p to Regulate the ... 的相關結果
Linc01278, microRNA‐500b‐5p, and ACTG2 played an important role in the ... and mutant 3′ untranslated region of ACTG2 for miR‐500b‐5p. ... <看更多>
actg2 mutation 在 ACTG2 - wikidoc 的相關結果
Actin, gamma-enteric smooth muscle is a protein that in humans is encoded by the ACTG2 gene. Actins are highly conserved proteins that are ... ... <看更多>
actg2 mutation 在 Mutation in Actin γ-2 Responsible for Megacystis Microcolon ... 的相關結果
Our report suggested that R257 variant in the ACTG2 appear to be more frequent in populations of Asian ancestry; mutation of this locus could cause ... ... <看更多>
actg2 mutation 在 UniProtKB/SwissProt variant VAR_085872 - Expasy 的相關結果
Visceral myopathy diagnosed by a de novo ACTG2 mutation in a patient with chronic intestinal pseudo-obstruction-a case report. Xiong X.; Li J.; Liu C.; ... ... <看更多>
actg2 mutation 在 Bioinformatics Analysis Reveals MicroRNA-193a-3p ... 的相關結果
Wild or mutant 3′-untranslated region (UTR) of ACTG2 were cloned into pGL6-miR (Beyotime, China). We seeded 2 × 10 4 HEK293T cells onto ... ... <看更多>
actg2 mutation 在 small interfering rna (sirna) for therapy of mmihs caused by ... 的相關結果
Название. SMALL INTERFERING RNA (SIRNA) FOR THERAPY OF MMIHS CAUSED BY ACTG2 GENE MUTATION · Реферат. The present invention belongs to the sector ... ... <看更多>
actg2 mutation 在 Case Report A Novel Mutation in ACTG2 Gene in Mother with ... 的相關結果
Background. A novel mutation in the ACTG2 gene is described in a pregnant patient followed up for chronic intestinal. ... <看更多>
actg2 mutation 在 Novel ACTG2 variants disclose allelic heterogeneity ... - IRIS 的相關結果
Variants in the ACTG2 gene, encoding a protein crucial for correct ... Structural and functional characterization of present ACTG2 mutations. ... <看更多>
actg2 mutation 在 ACTG2基因突变的原发性内脏肌病致假性肠梗阻一例 的相關結果
ACTG2 基因突变的原发性内脏肌病致假性肠梗阻一例 ... hypertrophic pyloric stenosis, choledochal cyst, and a novel missense mutation[J]. ... <看更多>
actg2 mutation 在 Berdon Syndrome - AccessAnesthesiology 的相關結果
Heterozygous mutations in ACTG2 can lead to MMIHS. Mutations of other genes involved in smooth muscle contraction may also cause MMIHS and in approximately ... ... <看更多>
actg2 mutation 在 Oral Pyridostigmine-responsive Visceral Myopathy With ... 的相關結果
title: Oral Pyridostigmine-responsive Visceral Myopathy With ACTG2 Mutations: A Case Series, doi: 10.1097/MPG.0000000000002183, category: Article. ... <看更多>
actg2 mutation 在 Locus Specific Mutation Databases 的相關結果
https://databases.lovd.nl/shared/genes/ACTG2, Global Variome, with Curator vacancy. Database manager, Rating: 3, 44, LOVD 3.X, 2022-11-01. BIPMed SNP Array ... <看更多>
actg2 mutation 在 ACTG2 변이와 관련된 내장근 질환에서 경구 피리도스티그민의 ... 的相關結果
ACTG2 변이와 관련된 내장근 질환에서 경구 피리도스티그민의 치료. ACTG2 mutation related visceral myopathy with oral pyridostigmine treatment. (포스터):. ... <看更多>
actg2 mutation 在 Callen's Ultrasonography in Obstetrics and Gynecology E-Book 的相關結果
Many cases are caused by heterozygous ACTG2 mutations. Genetic heterogenity may exist. ... Recurrence risk is 50% with a known parental mutation. Incidence. ... <看更多>
actg2 mutation 在 Pediatric Neurogastroenterology: Gastrointestinal Motility ... 的相關結果
Retention of actin immunoreactivity does not exclude ACTG2 mutation [91, 92]. ... smooth muscle, and mutations in SGOL1 was described recently [97]. ... <看更多>
actg2 mutation 在 RNA Biology in Cardiovascular Disease - 第 65 頁 - Google 圖書結果 的相關結果
(B) Dual luciferase assay showing the effect of miR-193a-3p on the wildtype and mutant 3untranslated region of ACTG2 in HEK293T cells (n = 6, *P < 0.05). ... <看更多>
actg2 mutation 在 Genetic Disorders and the Fetus: Diagnosis, Prevention and ... 的相關結果
... variants reported in the ACTG2 gene and the number of times each mutation ... definitive genotype–phenotype muscle.860–863 Mutations in the ACTG2 gene ... ... <看更多>
actg2 mutation 在 ACTG2 (actin gamma 2, smooth muscle) - Rat Genome Database 的相關結果
Symbol: ACTG2. Name: actin gamma 2, smooth muscle. RGD ID: 13884738. Description: ASSOCIATED WITH autosomal dominant familial visceral neuropathy ... ... <看更多>
actg2 mutation 在 Lmylk 的相關結果
Background: Mutations in MYLK cause non-syndromic familial thoracic aortic ... cases involving seven genes with pathogenic variants, ACTG2, MYH11, FLNA, ... ... <看更多>
actg2 mutation 在 ACTG2 gene: MedlinePlus Genetics 的相關結果
The ACTG2 gene provides instructions for making a protein called gamma (γ)-2 actin, which is part of the actin protein family. ... <看更多>