Project description:LAMA2-congenital muscular dystrophy (LAMA2-CMD) is the most common congenital muscular dystrophy and is triggered by mutations in LAMA2, coding for laminin α2 chain. Several phenotypes have been associated with LAMA2-CMD, including inflammation, fibrosis and increased oxidative stress. However, it is not yet known what mechanisms are faulty, right at disease onset, which in the mouse model of LAMA2-CMD dyW/dyW has been previously established to occur between embryonic days (E) 17.5 and E18.5. This transcriptomic analysis of fetal muscle fibers perfomed at E17.5 provides critical information regarding the genes and pathways that are altered in LAMA2-CMD right at the onset of the disease.
Project description:A rare case of severe leptospirosis infection presenting as septic shock in a non-endemic area: A case report and literature review
Project description:The extracellular matrix protein laminin-α2 is essential for preserving the integrity of skeletal muscle fibers during contraction. Its importance is reflected by the severe, congenital LAMA2-related muscular dystrophy (LAMA2 MD) caused by loss-of-function mutations in the LAMA2 gene. While laminin-α2 has an established role in structurally supporting muscle fibers, it remains unclear whether it exerts additional functions that contribute to the maintenance of skeletal muscle integrity. Submitted transcriptomic data represents gene expression profile of control and LAMA2-deficient human myogenic precursor cells derived from induced pluripotent stem cells which was analyzed to better understand the role of laminin-α2 in human cells.
Project description:Novel Biallelic NARS2 Variants Leading To Refractory Seizures: A Case Report And Literature Review
| PRJNA1170432 | ENA
Project description:Two pediatric patients with hemiplegic migraine presenting as acute encephalopathy: cases report and a literature review
| PRJNA993808 | ENA
Project description:Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review
