نتایج جستجو برای: werner syndrome
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Loss of Werner syndrome helicase-exonuclease (WRN) or of its homolog Bloom syndrome helicase (BLM) results in different inherited disorders. Whereas Werner syndrome is characterized by premature onset of aging and age-associated diseases, Bloom syndrome involves developmental abnormalities and increased predisposition to diverse malignancies. To identify biochemical differences between WRN and ...
Effrossyni Boutou1,2, Vassiliki Pappa3, Horst-Werner Stuerzbecher4 and Constantinos E. Vorgias1 1Department of Biochemistry & Molecular Biology Faculty of Biology, School of Sciences Athens University, Athens 2Prenatal Diagnosis Lab, Laiko Hospital, Athens 32nd Propaedeutic Pathology Clinic, Medical School, Athens University, Athens 4Molecular Cancer Biology Group, Institute of Pathology, UK-SH...
Werner syndrome (WS) is a rare autosomal recessive genetic disease in human. It is considered as a good model disease in studying human premature syndrome. Werner protein (WRN) is a nuclear protein mutated in WS. Recent biochemical and genetic studies indicated that WRN plays important roles in DNA replication, DNA repair, and telomere maintenance. Here, we reviewed the molecular genetics of WS...
BACKGROUND The pyrazolyl ketone motif of RO3201195, which exhibits good oral bioavailability and high selectivity for p38 MAPK over other kinases, is a key pharmacophore that could find application in the treatment of Werner syndrome. RESULTS AND DISCUSSION Microwave irradiation promotes Knoevenagel condensation of a β-ketonitrile and formamidine, to give β-aminovinyl ketones, and their subse...
Uterine didelphys with obstructed hemivagina and ipsilateral renal agenesis is a rare congenital anomaly of the Müllerian duct system referred to as Herlyn-Werner-Wunderlich syndrome. Because of its rare occurrence, a high level of suspicion is often required for diagnosis. Clinically, these patients usually present after menarche with pelvic pain, dysmenorrhea, and a palpable pelvic mass. We p...
The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder. The Werner syndrome gene (WRN) has recently been identified as a member of the helicase family. Four distinct mutations were previously reported in three Japanese and one Syrian WS pedigrees. The latter mutation was originally described as a 4 bp deletion spanning a spliced junction. It is now shown that this mutation re...
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