Sökning: "Muskelbiologi"
Visar resultat 1 - 5 av 8 avhandlingar innehållade ordet Muskelbiologi.
1. Laminins and Congenital Muscular Dystrophy - From a Mouse Model to Gene Therapy of Laminin alpha2 chain deficiency?
Sammanfattning : Gene therapy holds great promise for treating many genetic diseases, including muscular dystrophies. Mutations in the gene encoding laminin alpha2 chain ? an extracellular protein prominently expressed in the neuromuscular system ? cause a severe neuromuscular disorder: congenital muscular dystrophy type 1A (MDC1A). LÄS MER
2. Gene Expression in mESC Deficient in FGFR Signalling and the Identification of the Novel Gene Ened
Sammanfattning : Embryonic stem cells (ESCs) are derived from the inner cell mass (ICM) of blastocyst stage embryos, and upon differentiation into embryoid bodies (EBs) they recapitulate the genetic, cellular and morphological events occurring in early embryogenesis. Among several signalling pathways and inductive factors, the fibroblast growth factors (FGFs) and their receptors (FGFRs) have been shown to be important during early embryogenesis. LÄS MER
3. Gain-of-function induced defects by PITX2 in eye and limb development
Sammanfattning : My research has been focused on eye and limb development with regard to the transcription factor PITX2. In the first paper we present an Axenfeld-Rieger syndrome PITX2 gain-of-function eye mouse model. Axenfeld-Rieger syndrome is a rare autosomal disorder affecting the development of eyes, teeth and abdomen. LÄS MER
4. Studies of laminin a2 chain deficient mice -muscle sparing, charaterization of Cib2 and defective spermatorgenesis
Sammanfattning : Mutations in the gene encoding laminin α2 chain, an extracellular matrix protein mainly expressed in the neuromuscular system, cause a severe form of muscular dystrophy, congenital muscular dystrophy type 1A (MDC1A). Laminin α2 chain is associated to the muscle fibers by two major receptors, where one of them, integrin α7β1, is diminished upon laminin α2 chain deficiency. LÄS MER
5. Congenital muscular dystrophy with laminin α2 chain-deficiency. Initiation of disease and development of treatment
Sammanfattning : Congenital muscle dystrophy type 1A (MDC1A) is a muscle disease caused bymutations in the LAMA2 gene, encoding the basement membrane protein lamininα2 chain. MDC1A patients exhibit neonatal onset of muscle weakness, progressivemuscle wasting and hypotonia, joint contractures that mostly affect elbows, hips,knees and ankles along with scoliosis and delayed motor milestones. LÄS MER
