Results 81 to 90 of about 163,016 (283)

Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]

, 2015
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire, Barrett, Jeff, Barroso, Inês, Chen, Jian Hua, Durbin, Richard, Farooqi, Sadaf, Fitzpatrick, David, Geschwind, Daniel, Huang Doran, Isabel, Hurles, Matt, Kaye, Jane, Keane, Thomas, Kennedy, Karen, Langford, Cordelia, Mccarthy, Shane, Muddyman, Dawn, Owen, Michael, O’Rahilly, Stephen, Palotie, Aarno, Payne, Felicity, Richards, Bren, Savage, David B., SEGNI, Maria, Semple, Robert K., Sleigh, Alison, Soranzo, Nicole, Spector, Tim, Stalker, Jim, Timpson, Nic, Zeggini, Eleftheria   +29 more
core   +3 more sources

Analysis for complexity of clustered DNA damage generated by heavy ion beams [PDF]

Nucleic Acids Symposium Series, 2008
Among numerous DNA damaging factors, ionizing radiation produces the damage showing very unique structure. Since ionizing radiation passes through a target DNA as a beam, the respective induced lesions locate close together around the track. Such damage aggregation on target DNA called "clustered DNA damage" is thought to be a major cause of the ...
Hiroaki, Terato, Hiromi, Watari, Yuka, Shimazaki, Ryoichi, Hirayama, Yoshiya, Furusawa, Hiroshi, Ide   +5 more
openaire   +2 more sources

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

Tissue Specific DNA Repair Outcomes Shape the Landscape of Genome Editing

Frontiers in Genetics, 2021
The use of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas9 has moved from bench to bedside in less than 10years, realising the vision of correcting disease through genome editing. The accuracy and safety of this approach relies on
Mathilde Meyenberg, Mathilde Meyenberg, Joana Ferreira da Silva, Joana Ferreira da Silva, Joanna I. Loizou, Joanna I. Loizou   +5 more
doaj   +1 more source

Detailed analysis of the cell-inactivation mechanism by accelerated protons and light ions

, 2005
Published survival data for V79 cells irradiated by monoenergetic protons, helium-3, carbon, and oxygen ions and for CHO cells irradiated by carbon ions have been analyzed using the probabilistic two-stage model of cell inactivation.
Berger M J Coursey J S Zucker M A, Curtis S B, Debus J, Goodhead D T, Goodhead D T, Hromčíková H Kundrát P Lokajíček M, James F, Kanai T, Krämer M, Krämer M, Kundrát P, Kundrát P, Kundrát P Lokajíček M Hromčíková H Judas L, Kundrát P Stewart R D, Pavel Kundrát, Perris A, Sachs R K, Semenenko V A, Sisterson J, Stoll U, Ward J F, Wilson R R   +21 more
core   +1 more source

Capsular profiling of the Cronobacter genus and the association of specific Cronobacter sakazakii and C. malonaticus capsule types with neonatal meningitis and necrotizing enterocolitis [PDF]

, 2015
Background: Cronobacter sakazakii and C. malonaticus can cause serious diseases especially in infants where they are associated with rare but fatal neonatal infections such as meningitis and necrotising enterocolitis.
A Lehner, A Muller, A Rahman, AS Shashkov, C Iversen, C Iversen, C Whitfield, DL Daniels, E Hurrell, E Hurrell, E Jackson, E Kucerova, E Kucerova, EE Jackson, F Ramos-Morales, GI Dancer, H Kim, H Sonbol, J Caubilla-Barron, J Caubilla-Barron, J Kajimura, JR Mehall, K Butela, KA Jolley, KA Power, KG Jarvis, KG Jarvis, LL MacLean, LL MacLean, LM Willis, LS Harris, M Blažková, M Czerwicka, M Hobbs, M Scheepe-Leberkühne, MW Gilmour, N Mullane, N Navasa, NP Arbatsky, O Holy, O Holy, P. Ogrodzki, PN Danese, S Hariri, S Joseph, S Joseph, S Joseph, S Joseph, S Joseph, S Kumar, S. Forsythe, SJ Forsythe, SM Townsend, SM Townsend, T Carver, X Zogaj, Y Sun, Y Sun   +57 more
core   +2 more sources

Targeted modulation of IGFL2‐AS1 reveals its translational potential in cervical adenocarcinoma

Molecular Oncology, EarlyView.
Cervical adenocarcinoma patients face worse outcomes than squamous cell carcinoma counterparts despite similar treatment. The identification of IGFL2‐AS1's differential expression provides a molecular basis for distinguishing these histotypes, paving the way for personalized therapies and improved survival in vulnerable populations globally.
Ricardo Cesar Cintra, Lucca Paolo Hsu Helmich, Daniel Rodrigues de Bastos, Laura Sichero, Patrícia Savio de Araujo‐Souza, Fabio Passetti, Luisa Lina Villa   +6 more
wiley   +1 more source

Effect of linear energy transfer (LET) on complexity of alpha-particle-induced chromosome aberrations in human CD34+ cells. [PDF]

, 2007
The aim of this study was to assess the relative influence of linear energy transfer (LET) of α-particles on chromosome aberration complexity in the absence of significant other track structure differences.
Anderson, RM, Goodhead, DT, Hill, MA, Stevens, DL, Sumption, ND, Tounsend, KMS   +5 more
core  

Network divergence analysis identifies adaptive gene modules and two orthogonal vulnerability axes in pancreatic cancer

Molecular Oncology, EarlyView.
Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson, Lyanne Delgado‐Coka, Natalia Marchenko, Luisa F. Escobar‐Hoyos, Kenneth R. Shroyer, Alisa Yurovsky, Trey Ideker, Gábor Balázsi, Thomas MacCarthy, Scott Powers   +9 more
wiley   +1 more source

Transcription as a Threat to Genome Integrity [PDF]

, 2016
Genomes undergo different types of sporadic alterations, including DNA damage, point mutations, and genome rearrangements, that constitute the basis for evolution.
Aguilera López, Andrés, Gaillard, Hélène   +1 more
core   +1 more source