Results 61 to 70 of about 135,756 (330)
Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation [PDF]
, 2018 Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells from a patient carrying a ...
Bhattacharya, Shomi S. +5 more
core +1 more source
Stem Cell Research, 2023 Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is a chloride channel defective in cystic fibrosis (CF). Several CFTR mutations are causative of CF, among which G542X is a nonsense mutation introducing a premature stop codon which prevents ...
Michał Dębczyński +9 more
doaj +1 more source
An eIF4E-binding protein regulates katanin protein levels in C. elegans embryos. [PDF]
, 2009 In Caenorhabditis elegans, the MEI-1-katanin microtubule-severing complex is required for meiosis, but must be down-regulated during the transition to embryogenesis to prevent defects in mitosis.
DeBella, Leah +4 more
core +2 more sources
Stem Cell Research, 2023 A human induced pluripotent stem cell line (iPSC), FDCHi010-A, was derived from the peripheral blood of a 3-year-old patient with the c.2062C > T (p.R688*) mutation in the AHDC1 gene.
Tingting Yin +5 more
doaj +1 more source
Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? [PDF]
Clinical Genetics, 2003 Mutations in the RP2 gene account for up to 20% of X‐linked recessive retinitis pigmentosa (RP). Arg120stop is to date the most frequently reported mutation found in RP2. Mutation screening was performed during the course of a large screening program of retinal degenerative disorders (RDDs) in South Africa using exon 1 and 2 of RP2 in 20 unrelated ...
AA Vorster +8 more
openalex +3 more sources
Stem Cell Research, 2019 : As one of the most essential genome guardians, p53 and its mutants have been suggested associated with many types of cancers. Many p53 mutants function induce unique phenotypes, including carcinogenesis, metastasis, and drug resistance.
Zijun Huo +12 more
doaj +1 more source
Stem Cell Research, 2023 CHARGE syndrome (OMIM 214800) is an autosomal dominant disease with coloboma, heart defects, atresia of choanae and retardation of growth and/or development, etc. CHD7 mutation is the major known pathogenic cause in patients with CHARGE syndrome. A human
Ting Peng +3 more
doaj +1 more source
Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer
Molecular Oncology, EarlyView.PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta +10 more
wiley +1 more source
Molecular recording of mammalian embryogenesis. [PDF]
, 2019 Ontogeny describes the emergence of complex multicellular organisms from single totipotent cells. This field is particularly challenging in mammals, owing to the indeterminate relationship between self-renewal and differentiation, variation in progenitor
Adamson, Britt +13 more
core +2 more sources
FEBS Open Bio, EarlyView.dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon +6 more
wiley +1 more source