Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
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White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathiesFrom gene discovery to new biological mechanisms: heparanases and congenital urinary bladder diseaseThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesTranslational Research for Pediatric Lower Urinary Tract DysfunctionLoss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.Increased Expression of SETD7 Promotes Cell Proliferation by Regulating Cell Cycle and Indicates Poor Prognosis in Hepatocellular CarcinomaThe defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease.Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.Graded effects of unregulated smooth muscle myosin on intestinal architecture, intestinal motility and vascular function in zebrafishMolecular diagnostic experience of whole-exome sequencing in adult patientsWhole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Diagnosis of Chronic Intestinal Pseudo-obstruction & Megacystis by Sequencing the ACTG2 Gene.Transcriptome of the inner circular smooth muscle of the developing mouse intestine: Evidence for regulation of visceral smooth muscle genes by the hedgehog target gene, cJun.Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin.Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstructionMisato underlies visceral myopathy in Drosophila.Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.Mammalian Actins: Isoform-Specific Functions and Diseases.Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.Effects of butylated hydroxyanisole on the steroidogenesis of rat immature Leydig cells.Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome.ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.Causes and prognosis of chronic intestinal pseudo-obstruction in 48 subjects: A 10-year retrospective case series
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P2860
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
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2014年の論文
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2014年論文
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name
Heterozygous de novo and inher ...... inal hypoperistalsis syndrome.
@ast
Heterozygous de novo and inher ...... inal hypoperistalsis syndrome.
@en
type
label
Heterozygous de novo and inher ...... inal hypoperistalsis syndrome.
@ast
Heterozygous de novo and inher ...... inal hypoperistalsis syndrome.
@en
prefLabel
Heterozygous de novo and inher ...... inal hypoperistalsis syndrome.
@ast
Heterozygous de novo and inher ...... inal hypoperistalsis syndrome.
@en
P2093
P2860
P50
P1433
P1476
Heterozygous de novo and inher ...... inal hypoperistalsis syndrome.
@en
P2093
Arthur Beaudet
Atul Chopra
Baylor-Hopkins Center for Mendelian Genomics
Carlos A Bacino
Donna M Muzny
Dustin Baldridge
Efrat Lev Lehman
Frank J Probst
Ieva Eglite
P2860
P304
P356
10.1371/JOURNAL.PGEN.1004258
P577
2014-03-27T00:00:00Z