Results 41 to 50 of about 232,721 (297)
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo +11 more
wiley +1 more source
Chromosomal Aberrations and Schizophrenia [PDF]
British Journal of Psychiatry, 1992 Chromosomal aberrations associated with schizophrenic disorders may suggest regions in which to focus a search for genes predisposing to schizophrenia by a linkage strategy. As for other genetic illnesses, chromosomal abnormalities may also provide useful tools for subsequent physical mapping, fine localisation, and isolation of important ...
openaire +2 more sources
Diversity and complexity in neural organoids
FEBS Letters, EarlyView.Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley +1 more source
FEBS Letters, EarlyView.This study reveals that the small GTPase Rab14 is necessary for human papillomavirus (HPV) infection and plays an essential role in the transport of virions to the trans‐Golgi network (TGN). HPV in the early endosome (EE), which harbors GTP‐bound Rab14, is transported to the TGN through the switch of Rab14 from its GTP‐bound to GDP‐bound form.
Yoshiyuki Ishii, Iwao Kukimoto
wiley +1 more source
Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis
FEBS Letters, EarlyView.Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee +7 more
wiley +1 more source
Brazilian Journal of Medical and Biological Research, 2012 Polymorphisms of the p53 gene, which participates in DNA repair, can affect the functioning of the p53 protein. The Arg and Pro variants in p53 codon 72 were shown to have different regulation properties of p53-dependent DNA repair target genes that can ...
H. Akbaş +6 more
doaj +3 more sources
Nonrandom chromosome abnormalities in cancer An overview
, 2015 This chapter discusses neoplastic karyotypes. It emphasizes the difference between primary and secondary changes and address the questions of why, how, when, and where chromosome abnormalities arise; compare numerical and structural aberrations in terms ...
Mitelman, Felix, +2 more
core +1 more source
FEBS Letters, EarlyView.CT10 regulator of kinase (CRK) and CRK‐Like (CRKL) are signaling adaptors driving cell adhesion, motility, differentiation, and proliferation. SH2‐domain containing (SH) proteins are enriched in YXXP motifs which when phosphorylated create preferred binding sites for CRK family SH2 domains.
Phoebe M. Cousens +8 more
wiley +1 more source
PLoS ONE, 2020 Improvements in survival rates with gonad-sparing protocols for childhood and adolescence cancer have increased the optimism of survivors to become parents after treatment.
Sara Frias +3 more
doaj +1 more source
GENOTOXIC EFFECT OF HOSTATHION IN MICE [PDF]
Veterinary Medical Journal - Giza, 2001 The genotoxic potential of technical hostathion was studied in the in vivo mouse system. The test Parameters used were chromosomal aberrations Assay and mitotic index in bone marrow cells; and Meiotic chromosomal aberrations assay and Meiotic index in ...
K ABDEL AZIZ +3 more
doaj +1 more source