Results 41 to 50 of about 66,664 (302)

Movement disorders associated with chromosomal aberrations diagnosed in adult patients

, 2021
Introduction. Chromosomal aberrations are rare but important causes of various movement disorders. In cases of movement disorders associated with dysmorphic features, multiorgan involvement and/or intellectual disability, the identification of causative ...
Figura, Monika; Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland, Różański, Dorota; Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland, Koziorowski, Dariusz; Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland, Smyk, Marta; Institute of Mother and Child, Department of Medical Genetics, Kasprzaka 17a, 01-211 Warsaw, Poland, Geremek, Maciej; Institute of Mother and Child, Department of Medical Genetics, Kasprzaka 17a, 01-211 Warsaw, Poland, Milanowski, Łukasz M.; Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland; Mayo Clinic, Jacksonville, Florida, United States, Duszyńska-Wąs, Karolina; Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland, Meisner-Kramarz, Izabela; Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland, Szlufik, Stanisław; Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland   +8 more
core   +1 more source

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source

Role of p53 codon 72 polymorphism in chromosomal aberrations and mitotic index in patients with chronic hepatitis B

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, K. Yalcin, H. Isi, S. Tekes, A.E. Atay, Z. Akkus, T. Budak   +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,, Heim, Sverre,, Lund University.   +2 more
core   +1 more source

Rab14 regulates the transport of human papillomavirus to the trans‐Golgi network for infectious cell entry

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

Induction of chromosome shattering by ultraviolet light and caffeine [PDF]

, 1981
Synchronized and asynchronously growing cells of a V79 sub-line of the Chinese hamster were either partial-cell irradiation (λ, 254 nm) or laser-UV-microirradiated (λ, 257 nm).
Cremer, Thomas, Cremer, Christoph, Zimmer, J., Zorn, Christian   +3 more
core   +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, Junho Jeong, Chae Yeong Lee, Hyunjoon Cho, Man Hwan Oh, Je Chul Lee, Jee‐Young Lee, Yangmee Kim   +7 more
wiley   +1 more source

Meiotic susceptibility for induction of sperm with chromosomal aberrations in patients receiving combination chemotherapy for Hodgkin lymphoma.

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, Paul Van Hummelen, Marvin L Meistrich, Andrew J Wyrobek   +3 more
doaj   +1 more source

Chromosomal Aberrations in Squamous Cell Carcinoma and Solar Keratoses Revealed by Comparative Genomic Hybridization

, 2003
Objective To identify chromosomal copy numbers of frequent genetic aberrations within squamous cell carcinomas (SCCs) and solar keratoses (SKs), and provide further evidence to support or challenge current dogma concerning the relationship between these
David J. Maguire, Weinstein, Stephen, Maguire, David, Lyn R. Griffiths, Griffiths, Lyn R., Kevin J. Ashton, Ashton, Kevin J., Griffiths, Lyn, Ashton, Kevin, Stephen R. Weinstein, Maguire, David J., Weinstein, Stephen R.   +11 more
core   +1 more source

ABL kinase‐dependent phosphorylation of SH proteins promotes their direct interaction with CRK family SH2 domains

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, Brendan W. Chandler, Anna M. Schmoker, Jaye L. Weinert, Charlotte A. Kearns, Warren T. Yacawych, Amila Šemić, Alicia M. Ebert, Bryan A. Ballif   +8 more
wiley   +1 more source