A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.
about
Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicingFunctional analysis of the homeodomain protein SIX5.Cooperation of six and eya in activation of their target genes through nuclear translocation of EyaExpression of a homeobox gene (SIX5) in borderline ovarian tumoursMolecular genetics and genetic testing in myotonic dystrophy type 1.RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1Mice deficient in Six5 develop cataracts: implications for myotonic dystrophyIdentification and expression of six family genes in mouse retinaHeterozygous 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 cellsExpression of myogenin during embryogenesis is controlled by Six/sine oculis homeoproteins through a conserved MEF3 binding siteSix4, a putative myogenin gene regulator, is not essential for mouse embryonal development.Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features.Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy.Myotonic dystrophy: the role of RNA CUG triplet repeats.Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissuesLocalization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies.DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression.Myotonic dystrophy: molecular windows on a complex etiology.Myotonic dystrophy: RNA pathogenesis comes into focus.The role of the laboratory mouse in the human genome projectExpansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genesRNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.Myotonic dystrophy mouse models: towards rational therapy development.CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic DystrophyMyotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genomeClinical implications of unstable DNA repeat sequences.Myotonic dystrophy: will the real gene please step forward!The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat.CTG repeat polymorphism in DMPK gene in healthy Yugoslav population.Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions.Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.HOTAIR Long Non-coding RNA: Characterizing the Locus Features by the In Silico Approaches.Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy.Independent regulation of the myotonic dystrophy 1 locus genes postnatally and during adult skeletal muscle regeneration.Expression of the myotonic dystrophy locus-associated homeodomain protein in congenital myotonic dystrophy.From Drosophila mutants to human disease.
P2860
Q24301335-3B76FFC9-4B69-4BE6-A3B0-175AB3521783Q24516571-FF643B80-854B-433E-8A37-F23DDD4FE2D5Q24554423-FDE4ED85-9656-4C9D-B256-651D3982193AQ24682988-9519CBCB-084D-4408-A8E6-E56922548403Q27691417-25EDAA67-16C6-4E56-8AD9-43E55B1804E4Q28140822-74930A6F-C1AA-41CD-98A3-98FF1D51123BQ28504484-F6736298-EDC3-4AA4-89F5-A654E2795399Q28506421-2CCDE08E-3780-4777-B4B4-8DE7C3733F6AQ28585557-7D4CD0E8-A35B-48CA-ABA4-7B431D4CFAFFQ28588083-51598D66-0F75-4E49-BA29-1DCF39A7CE5AQ28589912-FFEBC11A-974E-4043-B1F2-F4225B8B3A2BQ30531281-E43B9E01-D2CF-4EB1-8E4F-8BDA68ECB85FQ30855205-980CB53D-1EB5-4A74-B70B-6211DBCB13ADQ33548657-CAAAA3EC-731F-417F-AF91-D170D855B888Q34068475-C7B2B17E-5DE2-4526-A8BD-77D09987C0DFQ34399378-9D6E00C2-543E-475D-A518-0E4E186BDA84Q34479679-A01C9794-BCF4-4937-8783-B7A166EDC80BQ34515017-61D770CF-B957-42B6-96B1-767F48B5DD7FQ34658838-4FFC181C-A07E-4A07-B727-906C595B6FB5Q35738537-6DDCC7E8-38E1-4251-9514-EFB19095C883Q35882117-8CCB5F25-3E82-4940-AAA1-D328ACA84258Q36656342-E6B7CE33-AB73-4C95-8577-2D400A1C95B7Q36656460-0C223FF2-BF2F-4EE6-B951-64EF28F5BED8Q37365699-DD6C3002-94BD-4FE1-9A4E-9D300D01DF2AQ37434343-CAC4F1A6-BD46-4591-B020-2C42EBD4E4B2Q38713995-D151BA5E-C8AF-4A1A-A726-1D57AFA3AE45Q39043041-F472B829-807E-4EF6-A995-AEC6709A66A0Q40021880-1584A83A-FCC6-4F9A-86BA-3B4CDA93FD3DQ41025202-0ACE8D97-C15B-42E3-83F4-A445F560C6A1Q41170292-47251ED8-E318-41D1-8A7A-20B0DC439646Q41968306-380BF7C5-C3F7-458F-80CE-6993C103B1CFQ43923075-CDF40BDF-A608-4851-8143-352BD28114B6Q44409505-F5EFDBA7-F760-4284-857C-57901ED5194BQ47747960-926A4679-E7ED-4237-A8BD-5173EB5F1C2FQ47747985-A8722A21-B1EF-4E0D-8220-8315E53EBFFCQ48726587-29F012CF-B72E-46F7-9756-0B5512C63926Q52169519-76D5636D-B001-4608-A64C-E00746604B7AQ52173012-CA823D01-1181-4E8E-93D1-48155468FF72Q52572412-4B191828-5CAE-4259-BACD-A0E08DE72140
P2860
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.
description
1995 nî lūn-bûn
@nan
1995 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A novel homeodomain-encoding g ...... trophy unstable (CTG)n repeat.
@ast
A novel homeodomain-encoding g ...... trophy unstable (CTG)n repeat.
@en
A novel homeodomain-encoding g ...... he myotonic dystrophy unstable
@nl
type
label
A novel homeodomain-encoding g ...... trophy unstable (CTG)n repeat.
@ast
A novel homeodomain-encoding g ...... trophy unstable (CTG)n repeat.
@en
A novel homeodomain-encoding g ...... he myotonic dystrophy unstable
@nl
prefLabel
A novel homeodomain-encoding g ...... trophy unstable (CTG)n repeat.
@ast
A novel homeodomain-encoding g ...... trophy unstable (CTG)n repeat.
@en
A novel homeodomain-encoding g ...... he myotonic dystrophy unstable
@nl
P2093
P356
P1476
A novel homeodomain-encoding g ...... trophy unstable (CTG)n repeat.
@en
P2093
Boucher CA
Chartier FL
Winchester CL
P304
P356
10.1093/HMG/4.10.1919
P577
1995-10-01T00:00:00Z