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Source: Mol Biol Cell
Procedure: Gastroschisis Repair
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Total 3 results found since Jan 2013.
Restoration of Dystrophin Expression in Mdx-Derived Muscle Progenitor Cells Using CRISPR/Cas9 System and Homology-Directed Repair Technology
Methods Mol Biol. 2023;2587:455-464. doi: 10.1007/978-1-0716-2772-3_23.ABSTRACTDuchenne muscular dystrophy (DMD) is a progressive myopathy caused by mutations in genes encoding dystrophin proteins that ultimately lead to depletion of myogenic progenitor cells (MPCs). Several approaches have been used to correctly express the dystrophin gene in induced pluripotent stem cells (iPSCs), including deletion of mutated exon 23 (ΔEx23) by clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated gene 9 (Cas9)-mediated gene editing technology. However, this approach is labor-intensive due to individual co...
Source: Mol Biol Cell - November 18, 2022 Category: Molecular Biology Authors: Yue Jin Yan Shen Il-Man Kim Neal L Weintraub Mark Hamrick Yaoliang Tang Source Type: research
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition
Genet Mol Biol. 2021 Aug 6;44(3):e20200332. doi: 10.1590/1678-4685-GMB-2020-0332. eCollection 2021.ABSTRACTTwo Italian patients with the initial clinical diagnosis of Rothmund-Thomson syndrome were negative for RECQL4 mutations but showed in peripheral blood cells a spontaneous chromosomal instability significantly higher than controls. Revisiting after time their clinical phenotype, the suggestive matching with the autosomal dominant syndrome Poikiloderma, Hereditary Fibrosing with Tendon Contracture, Myopathy and Pulmonary fibrosis (POIKTMP) was confirmed by identification of the c.1879A>G (p.Arg627Gly) alteration in ...
Source: Mol Biol Cell - August 6, 2021 Category: Molecular Biology Authors: Gaia Roversi Elisa Adele Colombo Ivana Magnani Cristina Gervasini Giuseppe Maggiore Mauro Paradisi Lidia Larizza Source Type: research
