Results 41 to 50 of about 33,965 (276)

Investigations into the molecular effects of single nucleotide polymorphism [PDF]

, 2000
Objectives: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences.
Lohrer, Horst D., Tangen, Uwe
core   +1 more source

ATM-Dependent Phosphorylation of All Three Members of the MRN Complex: From Sensor to Adaptor

Biomolecules, 2015
The recognition, signalling and repair of DNA double strand breaks (DSB) involves the participation of a multitude of proteins and post-translational events that ensure maintenance of genome integrity. Amongst the proteins involved are several which when
Martin F. Lavin, Sergei Kozlov, Magtouf Gatei, Amanda W. Kijas   +3 more
doaj   +1 more source

The association between ATM IVS 22-77 T>C and cancer risk: a meta-analysis. [PDF]

PLoS ONE, 2012
BACKGROUND AND OBJECTIVES: It has become increasingly clear that ATM (ataxia-telangiectasia-mutated) safeguards genome stability, which is a cornerstone of cellular homeostasis, and ATM IVS 22-77 T>C affects the normal activity of ATM proteins.
Lin Zhao, Aihua Gu, Guixiang Ji, Peng Zou, Peng Zhao, Ailin Lu   +5 more
doaj   +1 more source

Congenital microcephaly [PDF]

, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
core   +1 more source

Regulation of the Target of Rapamycin and Other Phosphatidylinositol 3-Kinase-Related Kinases by Membrane Targeting

Membranes, 2015
Phosphatidylinositol 3-kinase-related kinases (PIKKs) play vital roles in the regulation of cell growth, proliferation, survival, and consequently metabolism, as well as in the cellular response to stresses such as ionizing radiation or redox changes. In
Maristella De Cicco, Munirah S. Abd Rahim, Sonja A. Dames   +2 more
doaj   +1 more source

Targeting DNA topoisomerases or checkpoint kinases results in an overload of chaperone systems, triggering aggregation of a metastable subproteome

eLife, 2022
A loss of the checkpoint kinase ataxia telangiectasia mutated (ATM) leads to impairments in the DNA damage response, and in humans causes cerebellar neurodegeneration, and an increased risk of cancer.
Wouter Huiting, Suzanne L Dekker, Joris CJ van der Lienden, Rafaella Mergener, Maiara K Musskopf, Gabriel V Furtado, Emma Gerrits, David Coit, Mehrnoosh Oghbaie, Luciano H Di Stefano, Hein Schepers, Maria AWH van Waarde-Verhagen, Suzanne Couzijn, Lara Barazzuol, John LaCava, Harm H Kampinga, Steven Bergink   +16 more
doaj   +1 more source

A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis [PDF]

, 2017
Ataxia telangiectasia (A-T) is a neurodegenerative autosomal recessive disorder with the main characteristics of progressive cerebellar degeneration, sensitivity to ionizing radiation, immunodeficiency, telangiectasia, premature aging, recurrent ...
Alipour, Paria., Fattahi, Najmeh., Golchin, Neda., Mohammadi-Asl, Javad., Pourahmadiyan, Azam., Shariati, Laleh., Tabatabaiefar, Mohammad Amin.   +6 more
core   +1 more source

Ataxia Telangiectasia Mutated Proteins, MAPKs, and RSK2 Are Involved in the Phosphorylation of STAT3 [PDF]

Journal of Biological Chemistry, 2003
Phosphorylation at Ser(727) is known to be required for complete activation of STAT3 by diverse stimuli including UV irradiation, but the kinase(s) responsible for phosphorylating STAT3 (Ser(727)) is still not well discerned. In the present study, we observed that activation of ATM is required for a UVA-stimulated increase in Ser(727) phosphorylation ...
Yiguo, Zhang, Yong-Yeon, Cho, Brandon L, Petersen, Ann M, Bode, Feng, Zhu, Zigang, Dong   +5 more
openaire   +2 more sources

Epstein–Barr Virus Hijacks DNA Damage Response Transducers to Orchestrate Its Life Cycle

Viruses, 2017
The Epstein–Barr virus (EBV) is a ubiquitous virus that infects most of the human population. EBV infection is associated with multiple human cancers, including Burkitt’s lymphoma, Hodgkin’s lymphoma, a subset of gastric carcinomas, and almost all ...
Pok Man Hau, Sai Wah Tsao
doaj   +1 more source

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling [PDF]

, 2007
Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling.
A Kramer, A Purohit, Anand Saggar, Andrew P Jackson, Ben Hamel, Bertrand Vernay, C Ponting, Carol-Anne Martin, CG Woods, D Chen, D Diviani, Elen Griffith, F Majewski, F Ruschendorf, GK Alderton, GK Alderton, H Dodson, H Loffler, H Niida, HPG Seckel, J Bond, J Bond, JB Dictenberg, K Miyoshi, M Martinez-Campos, M O'Driscoll, Mark O'Driscoll, MR Flory, Nouriya Al Sanna, P Brown, Paola Vagnarelli, Penny A Jeggo, Q Li, RD Martin, S Doxsey, S Sengupta, S Zhang, Sarah Walker, SJ Doxsey, Tom Stiff, WC Zimmerman, William C Earnshaw, Y Shiloh   +42 more
core   +4 more sources