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TranscriptomicsExpression profiling in LGMD2A muscles
The aim of this study was to identify the genes showing an altered expression in LGMD2A patients and the possible pathways they are implicated in. Ten muscle samples from patients with calpainopathy in which molecular diagnosis was ascertained were invest Keywords: Comparative genomic hybridization
ORGANISM(S): Homo sapiens 
2008-11-18 | GSE11681 | GEO
GenomicsHomo sapiens
Expression profiling in LGMD2A muscles
PRJNA106085 | ENA
UnknownGene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy.
Not available
S-EPMC6904833 | biostudies-literature
UnknownRedox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
Not available
S-EPMC4117472 | biostudies-literature
UnknownCRISPR/Cas9 Genome Editing in LGMD2A/R1 Patient-Derived Induced Pluripotent Stem and Skeletal Muscle Progenitor Cells.
Not available
S-EPMC10653971 | biostudies-literature
UnknownNatural history of LGMD2A for delineating outcome measures in clinical trials.
Not available
S-EPMC4818744 | biostudies-literature
UnknownGenetic Counseling and NGS Screening for Recessive LGMD2A Families.
Not available
S-EPMC7349198 | biostudies-literature
UnknownLoss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.
Not available
S-EPMC1892408 | biostudies-literature
UnknownDiagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.
Not available
S-EPMC3421126 | biostudies-literature
ProteomicsOne-line-fits-all: a knockdown strategy for rapid, generic and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal-muscle
Humanized 3D-tissue-engineered-skeletal-muscles (3D-TESMs) offer advanced disease modelling, but their application often require isogenic controls and involves laborious and time consuming methodology. Here, by combining 3D-TESM and shRNA approaches, we developed a “one-line-fits-all” disease modell...
ORGANISM(S): Homo sapiens (Human) 
2024-02-26 | PXD042227 | Pride
Skeletal-muscle-on-a-chip Disease modelling 3d-organ-on-a-chip Duchenne’s muscular dystrophy Dystrophin Lgmd2a Calpain-3 Genetic knockdown Tissue engineering 
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