Point mutations in the lamin A (LMNA) gene cause several human diseases, ranging from congenital muscular dystrophy to premature aging, collectively known as laminopathies, which affect skeletal ...
This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...
SAN DIEGO--(BUSINESS WIRE)--n-Lorem, a nonprofit foundation, announced today the publication of an article in the journal Nucleic Acid Therapeutics that explores potential regulatory approaches that ...
In a major advance, researchers have successfully corrected genetic mutations in neurons with a single injection into the brains of a mouse model. This technique did not completely reverse the disease ...
Germ cell tumors (GCTs) are a heterogeneous group of neoplasms that predominantly affect adolescents and young adults. Notably, geographical disparities in GCT incidence exist, with higher rates ...
In mice, APOE3-Christchurch reduced amyloidosis, tauopathy, and tau spreading. Two copies of APOE4-Christchurch staved off tangles, gliosis, and neurodegeneration. Just one copy reduced gliosis and ...
(A): Pedigree of the patient's family, including parents, a sister who died of HI disease, a stillbirth boy at 12 weeks of pregnancy, two healthy brothers and sister carrying the mutation and the ...
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