An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
about
Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophyThe CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicingIntermolecular and intramolecular interactions regulate catalytic activity of myotonic dystrophy kinase-related Cdc42-binding kinase alphaMyotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activityDivergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors.Muscleblind proteins regulate alternative splicingInteraction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicingCELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicingMKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinaseMyotonic dystrophy kinase-related Cdc42-binding kinase acts as a Cdc42 effector in promoting cytoskeletal reorganizationMyotonic dystrophy protein kinase is critical for nuclear envelope integrityFunctional analysis of the homeodomain protein SIX5.Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10The p160 RhoA-binding kinase ROK alpha is a member of a kinase family and is involved in the reorganization of the cytoskeletonComparative genomics and molecular dynamics of DNA repeats in eukaryotesAltered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout miceDefining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains.TRDB--the Tandem Repeats DatabaseHnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence.Human induced pluripotent stem cells for monogenic disease modelling and therapyA journey in bioinspired supramolecular chemistry: from molecular tweezers to small molecules that target myotonic dystrophyEpigenetics and Triplet-Repeat Neurological DiseasesNon-coding RNAs in muscle dystrophiesThe unstable repeats--three evolving faces of neurological diseaseTriplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophyModeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.Molecular genetics and genetic testing in myotonic dystrophy type 1.Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotypeRNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1New 5'-(CGG)n-3' repeats in the human genomeMBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1Mice deficient in Six5 develop cataracts: implications for myotonic dystrophySkeletal muscle Na currents in mice heterozygous for Six5 deficiencyHeterozygous loss of Six5 in mice is sufficient to cause ocular cataractsMyotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cellsHomodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinaseDeregulated microRNAs in myotonic dystrophy type 2Rho-associated kinase, a novel serine/threonine kinase, as a putative target for small GTP binding protein RhoDisease Phenotypes in a Mouse Model of RNA Toxicity Are Independent of Protein Kinase Cα and Protein Kinase CβPhospholemman is a substrate for myotonic dystrophy protein kinase.
P2860
Q24245250-902039B0-8788-417D-A91D-E065441399A5Q24290741-ADB614FA-AD0C-4BDD-A28A-44A45142232FQ24291071-1C7AA2AF-7F55-46AC-BAAB-E65C280CFDEEQ24291086-07FE3393-B951-406B-AEEB-F5C515A51280Q24293334-17C76AB1-6F56-4AFD-9FD5-9DC8AF4E795FQ24299521-D6095AC5-013F-4638-A236-7E4B7A48FA12Q24301335-9CD89BD5-944D-4529-814D-F7F72AC3CA82Q24307363-9A37DCA9-7FAE-45E0-B808-6A0FF05DF9AAQ24315686-105350E3-8468-4156-8CBA-0E909D379113Q24317262-6624DF21-7EA4-44D6-985C-73CEC35069DFQ24338683-B0E512C7-1242-4B65-BE34-55854B7F05E5Q24516571-313191FD-3EF5-44A9-A648-275F5A6298E6Q24534014-3169677A-7979-48EA-A7A9-4F014797F3CCQ24648481-ADBDAA72-0B9D-43B7-BCBF-960AEEB5B04FQ24650948-54443734-38D0-4C89-8CAB-5B7BE778D0F8Q24654728-8C89B1D3-EE13-4705-818D-7598C5143BA1Q24682706-E93DA428-3628-4694-AB36-A1F58D12BF91Q24683650-5B5AE19E-6144-467C-8F0D-CA09D9279C6BQ24812815-C65062CF-4A07-4B05-AC33-0FE9EBF1C5F9Q26750393-B516FB9C-D430-4E40-8F32-2792EAB96536Q26766064-D4E30C51-2755-4EB9-A185-2B866AB26825Q26770705-44BC073C-B416-49B0-B033-DD4B354E9E64Q26991500-80FC4BA1-7380-4DF4-A666-2E9F267B2963Q27025923-8DAB6307-9A94-4D32-942A-3D327CB4EE12Q27342852-5E79333F-D38F-45B9-82EB-44A10D8DF9FFQ27687330-21A215F2-2992-4B14-9734-EAB527FCBC1AQ27691417-8BF8C387-E78D-4728-AE08-93770DB81863Q28115791-3CA77C9C-C86E-478C-A87B-56F876F462ABQ28140822-370DBAF9-F5C8-4155-8337-7FB13A9EA294Q28287940-105FEBE8-3CB2-4F82-BE5C-43E1AEB75FB3Q28293693-E9C0A976-6347-4575-A53A-4596A7A05926Q28504484-677098C6-7D51-471D-9769-68DB60F01691Q28505273-BCC45F31-3E3E-45EA-A59F-94A119538714Q28585557-199BB810-6BBC-4FC8-A493-581709AA708CQ28588083-B9D76A5F-08D3-4085-80CB-B25959B16F89Q28646933-6E09C88D-FCA6-4585-B619-05B9042B19EFQ28727681-3ACB25D8-6C7F-4CF9-A75C-681E7BE66931Q29614250-8024BC3E-49C3-4E09-A7D0-B97AE0E5C304Q30275866-BAF6AA00-BC82-4840-8D58-7633E346FECFQ30305657-F71B8B99-6085-474E-8ACA-1CE7A3BFAC2A
P2860
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
description
1992 nî lūn-bûn
@nan
1992 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի մարտին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
@ast
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
@en
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
@nl
type
label
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
@ast
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
@en
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
@nl
prefLabel
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
@ast
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
@en
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
@nl
P2093
P356
P1433
P1476
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
@en
P2093
Ashizawa T
Fenwick RG Jr
Rajnarayan S
P304
P356
10.1126/SCIENCE.1546326
P407
P577
1992-03-01T00:00:00Z