Entry Detail

General Information

Database ID:LDA0004017
Species:Homo sapiens
Confidence Score:0.9526
Contents:>> ncRNA Information
>> Regulatory Relationship
>> Disease Information
>> Evidence Support
>> Reference


ncRNA Information

ncRNA Symbol:AS_INT55
Full Name:N/A
Species:Homo sapiens
Start Site(bp):0End Site(bp):0
Gene Summary:N/A
External Links:
Ensembl ID:N/A
Entrez Gene:N/A
RefSeq Accession:N/A


Regulatory Relationship

mRNA targets:N/A
miRNA targets:N/A


Disease Information

 Disease OntologyMeSH
Disease ID:DOID:11723D020388
Disease Name:Duchenne muscular dystrophyMuscular Dystrophy, Duchenne
Category:Disease OntologyMeSH
Type:disease of anatomical entityMusculoskeletal Diseases//Nervous System Diseases//Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Define:A muscular dystrophy that has_material_basis_in X-linked disease that has material basis in mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Alias:Muscular dystrophy, DuchenneCardiomyopathy, Dilated, X-Linked//Childhood Muscular Dystrophy, Pseudohypertrophic//Childhood Pseudohypertrophic Muscular Dystrophy//Duchenne Muscular Dystrophy//Duchenne-Type Progressive Muscular Dystrophy//Duchenne Type Progressive Muscular Dystrophy//Muscular Dystrophy, Childhood, Pseudohypertrophic//Muscular Dystrophy, Duchenne Type//Muscular Dystrophy, Pseudohypertrophic//Pseudohypertrophic Muscular Dystrophy//Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type//Muscular Dystrophy, Pseudohypertrophic, Childhood//Progressive Muscular Dystrophy, Duchenne Type//Pseudohypertrophic Childhood Muscular Dystrophy//Pseudohypertrophic Muscular Dystrophy, Childhood//Cardiomyopathy, Dilated, 3B//Duchenne and Becker Muscular Dystrophy//Muscular Dystrophy, Duchenne and Becker Types//Duchenne-Becker Muscular Dystrophy//Duchenne Becker Muscular Dystrophy//Muscular Dystrophy, Duchenne-Becker//Becker Muscular Dystrophy//Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type//Muscular Dystrophy, Becker//Muscular Dystrophy, Becker Type//Becker's Muscular Dystrophy//Muscular Dystrophy, Becker's//Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type


Evidence Support

Strong Evidence:Luciferase reporter gene assay//Northern blot//qRT-PCR
Weak Evidence:N/A
Prediction Method:N/A



[1] PubMed ID:23028937
Disease Name:Duchenne muscular dystrophy
Sample:cell lines
Dysfunction Pattern:Regulation [up-regulated]
Validated Method:Luciferase reporter gene assay//Northern blot//qRT-PCR
Description:Overall these findings unveil an unprecedented complexity of the transcriptional pattern of the DMD locus and reveal that DMD lncRNAs may contribute to the orchestration and homeostasis of the muscle dystrophin expression pattern by either selective targeting and down-modulating the dystrophin promoter transcriptional activity.
Author:Bovolenta M,Erriquez D,Valli E,Brioschi S,Scotton C,Neri M,Falzarano MS,Gherardi S,Fabris M,Rimessi P,Gualandi F,Perini G,Ferlini A
Title:The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.