Congenital myopathies: diseases of the actin cytoskeleton. - Wikidata - wikimedia - TriplyDB

Congenital myopathies: diseases of the actin cytoskeleton.

Congenital myopathies: diseases of the actin cytoskeleton.

http://www.wikidata.org/entity/Q30343979

about

Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family Structural Analysis of Smooth Muscle Tropomyosin and Isoforms Leiomodin is an actin filament nucleator in muscle cells.Expression of the fast twitch troponin complex, fTnT, fTnI and fTnC, in vascular smooth muscle Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres Identification of cytoskeleton-associated proteins essential for lysosomal stability and survival of human cancer cells Minimally invasive high-speed imaging of sarcomere contractile dynamics in mice and humans.SMIFH2 has effects on Formins and p53 that perturb the cell cytoskeleton Phenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes.Artificial neural network inference (ANNI): a study on gene-gene interaction for biomarkers in childhood sarcomas.Dynamic regulation of sarcomeric actin filaments in striated muscle Essential role of the zinc finger transcription factor Casz1 for mammalian cardiac morphogenesis and development Combined MRI and ³¹P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism.Tropomyosin-based regulation of the actin cytoskeleton in time and space.Ultrastructural changes in cardiac myocytes from Boxer dogs with arrhythmogenic right ventricular cardiomyopathy An ongoing role for structural sarcomeric components in maintaining Drosophila melanogaster muscle function and structure.Dual roles of tropomyosin as an F-actin stabilizer and a regulator of muscle contraction in Caenorhabditis elegans body wall muscle Proteomic analysis of age dependent nitration of rat cardiac proteins by solution isoelectric focusing coupled to nanoHPLC tandem mass spectrometry.Biochemical and cell biological analysis of actin in the nematode Caenorhabditis elegans Pathological situations characterized by altered actin isoform expression.The cytoskeleton and disease.Myocardial regulatory proteins and heart failure.Functional effects of nemaline myopathy mutations on human skeletal alpha-actin.Actin-ADF/cofilin rod formation in Caenorhabditis elegans muscle requires a putative F-actin binding site of ADF/cofilin at the C-terminus.Insights into the effects of disease-causing mutations in human actins.Myofibrillar misalignment correlated to triad disappearance of mdx mouse gastrocnemius muscle probed by SHG microscopy.Structure of the Shroom-Rho Kinase Complex Reveals a Binding Interface with Monomeric Shroom That Regulates Cell Morphology and Stimulates Kinase Activity.Actin in striated muscle: recent insights into assembly and maintenance Myopathy-causing actin mutations promote defects in serum-response factor signalling.Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle.UNC-87, a calponin-related protein in C. elegans, antagonizes ADF/cofilin-mediated actin filament dynamics.Switch from actin alpha1 to alpha2 expression and upregulation of biomarkers for pressure overload and cardiac hypertrophy in taurine-deficient mouse heart.A tumorigenic actin mutant alters fibroblast morphology and multicellular assembly properties.Zeb1-Hdac2-eNOS circuitry identifies early cardiovascular precursors in naive mouse embryonic stem cells.Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.The male phenotype in osteopathia striata congenita with cranial sclerosis

P2860

Q21284158-F21B0FD4-D2EA-45DD-A3A0-D4853E6D0B47 Q24546532-C275F697-620D-4DF9-94D9-CC6CE5681088 Q27345132-46BFA077-293A-487D-A2A6-A1D34ABBE369 Q27675828-D15EDC40-C380-4D36-85D6-59B5BE23D09E Q28117235-618AD003-01F6-4ACC-A531-DE75D1B17906 Q28283608-98E9AED2-5C0C-4D63-8421-20D9DE7AC962 Q28297814-EA24C04B-F948-4AE6-83F8-53F023AD3B7C Q28484373-AF4D19E8-461B-4A44-B622-053658AFFE10 Q30493302-59117F64-547D-4EEA-9B1B-C1749A6A10DB Q30844760-B22A8A82-2310-4D2B-8C52-186FEA9BCD22 Q33417852-F01DF645-2915-46E5-9C06-121E1CB90F48 Q33904902-C34853B2-A814-43A2-8823-C5287DB9118A Q34235998-0D3FF94F-BD6B-453F-A521-CA4448A51AC6 Q34396850-DC78941C-8344-4DE6-A09F-AF03B61A461A Q34684528-5237A3B2-62EF-4216-A609-08438F8C6866 Q34736000-D7C9696B-35C2-461F-A791-A22996051E1C Q35125245-7314EDEA-5AAD-49B0-A872-654637B2C4C5 Q35184836-4A9D2A08-E10F-41AA-93F7-645018743B6D Q35230851-6265A85E-C02C-4433-B290-F20871BFA862 Q35608301-6870D113-664A-4ADA-9687-3214453A3E47 Q35673187-3F863712-877B-4BB1-87C1-6F705054D2DA Q35923507-0973BB4C-EB2D-4321-B2FF-037367465F0C Q35923547-2E6A682B-3351-4568-A389-4EDBE4AA6ACC Q36323149-1E562475-C88E-4926-8F1D-8FF00A0A1A4B Q36744184-75FD34B7-85EB-4FED-9B06-B55801903A6A Q37322303-7083D2C4-674D-40BB-89CB-5817282EBAD9 Q38191504-E29606C8-747E-42F7-87F6-320EDAFCD490 Q38363484-66659675-1E03-4E8E-813E-58D469E761FA Q39272424-03A14938-5C13-4421-AEFA-7036C6FED204 Q39310221-AE331838-E28C-4680-9D87-DF021757DB8C Q39750008-E306E5E7-E119-49EB-8EED-2BD450864A62 Q43041001-8C18E874-00D1-40F0-A4A2-8849005BA7FA Q43204257-2A536839-AAD3-48D9-AD8A-5B1C2AB5A215 Q48380316-B68AD3B0-C30D-47B5-B8DA-1A9117066265 Q50875058-2B61F02E-4ED5-495E-B848-C23E5CE00FED Q52723067-A5E6691D-FF61-4A24-9783-90DCB25FE56D Q53655447-DD6175CB-3B5D-4D4E-8452-84FA092C57CF Q58443342-2215B003-1E31-437A-89B9-05E2BA0C21BE

P2860

Congenital myopathies: diseases of the actin cytoskeleton.

http://www.wikidata.org/entity/Q30343979

description

2004 nî lūn-bûn

@nan

2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2004年の論文

@ja

2004年論文

@yue

2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

name

Congenital myopathies: diseases of the actin cytoskeleton.

@ast

Congenital myopathies: diseases of the actin cytoskeleton.

@en

type

label

Congenital myopathies: diseases of the actin cytoskeleton.

@ast

Congenital myopathies: diseases of the actin cytoskeleton.

@en

prefLabel

Congenital myopathies: diseases of the actin cytoskeleton.

@ast

Congenital myopathies: diseases of the actin cytoskeleton.

@en

P1433

Q30343979-92A9D9BA-4D5F-454C-BD12-1223BC84B23C

P1476

Q30343979-B872487C-60BF-400E-B9C0-554F2278A3D2

P2093

Q30343979-2A9B4B6D-76E5-4B6D-AE6A-F7623BC0597A

Q30343979-553985A1-D8F1-45AE-BA61-CC99C3F0FE33

Q30343979-C1B8069F-14BA-4896-9B66-1475CD4E468C

P2860

Q30343979-07A63E61-98A8-4656-8F69-F71A5E5A90DF

Q30343979-0B898629-146E-4DEB-AAAB-8FC3778302C7

Q30343979-11EBC824-0E37-4A62-BFBD-CF10EAE579D2

Q30343979-19053BD8-FE06-4194-924F-47EF237EA4AC

Q30343979-2A1E27B4-4D9E-4F87-8BB3-E57741D03B37

Q30343979-31A762F7-A6C1-41FB-BBC7-76E6173CBF89

Q30343979-34DC3248-9E96-45A0-B091-7639FCD55642

Q30343979-3698FE65-8900-4649-9C44-C839AE9ACF46

Q30343979-36D4288A-E8AF-47FC-AA5C-F8CAEC1B7937

Q30343979-4363A231-4D4C-41B2-BDB9-B119C58BAFC1

P304

Q30343979-0D66559D-70B1-4496-96A2-8855BFD7870B

P31

Q30343979-CC01476C-AB3C-452B-93B5-966E9E141C08

P356

Q30343979-51F7E663-1F63-401F-99DD-3560A12A371F

P433

Q30343979-B9A36252-8C44-4843-8894-DAF8CC264CED

P478

Q30343979-7AA5E5F4-C0E3-4119-9099-DCCB8913323B

P577

Q30343979-8311BA82-F984-4E77-B65A-A3CF8F0FF711

P698

Q30343979-31312464-8BD9-4C6F-A9BF-C56397CB9E26

P921

Q30343979-0BB04FEA-6398-4222-8D34-3A381B9C0D6D

Q30343979-2B0559BE-8490-4419-834E-8FCC8C1120FB

Q30343979-78741CBE-B434-4FD6-99B7-8DD5BE55DA73

P356

P1433

The Journal of Pathology

P1476

Congenital myopathies: diseases of the actin cytoskeleton.

@en

P2093

Celine F Costa

http://www.w3.org/2001/XMLSchema#string

Emilie Clarkson

http://www.w3.org/2001/XMLSchema#string

Laura M Machesky

http://www.w3.org/2001/XMLSchema#string

P2860

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies

Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

Production of human skeletal alpha-actin proteins by the baculovirus expression system

Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs

Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Atomic structure of the actin:DNase I complex

MTM1 mutations in X-linked myotubular myopathy

P304

407-417

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/PATH.1648

http://www.w3.org/2001/XMLSchema#string

P433

4

http://www.w3.org/2001/XMLSchema#string

P478

204

http://www.w3.org/2001/XMLSchema#string

P577

2004-11-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

15495263

http://www.w3.org/2001/XMLSchema#string

P921

actin cytoskeleton