Results 71 to 80 of about 53,382 (220)

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

The role of lipid metabolism in neuronal senescence

FEBS Open Bio, EarlyView.
Disrupted lipid metabolism, through alterations in lipid species or lipid droplet accumulation, can drive neuronal senescence. However, lipid dyshomeostasis can also occur alongside neuronal senescence, further amplifying tissue damage. Delineating how lipid‐induced senescence emerges in neurons and glial cells, and how it contributes to ageing and ...
Dikaia Tsagkari, Eleftheria Panagiotidou, Nektarios Tavernarakis   +2 more
wiley   +1 more source

MRE11 facilitates the removal of human topoisomerase II complexes from genomic DNA [PDF]

, 2012
Topoisomerase II creates a double-strand break intermediate with topoisomerase covalently coupled to the DNA via a 5'-phosphotyrosyl bond. These intermediate complexes can become cytotoxic protein-DNA adducts and DSB repair at these lesions requires ...
Austin, Caroline, Cockell, Simon, Cowell, Ian, Curtis, Hannah, Jackson, Graham, Lee, Ka Cheong, Moiani, Davide, Morris, Nicholas, Padget, Kay, Sondka, Zbyslaw, Tainer, John   +10 more
core   +3 more sources

Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control

FEBS Open Bio, EarlyView.
Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada, Mina Iwaki, Kyosuke Hagiri, Rei Izumi, Masahiko Harata, Chihiro Horigome   +5 more
wiley   +1 more source

Mechanisms conferring sensitivity to low dose radiation exposure and consideration of potentially sensitivie individuals [PDF]

, 2009
No description ...
Jeggo, Penny
core  

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

Ultrasmall Platinum Nanoparticles for Radiation‐Enhanced Cancer Therapy

Advanced Functional Materials, EarlyView.
This work proposes a nanomedicine‐based strategy to enhance X‐ray radiotherapy for cancer treatment. Ultrasmall Pt‐NPs exhibit catalase‐like activity that may contribute to modulation of the tumor microenvironment and amplify interactions between radiation and biological matter, leading to increased DNA damage.
Miguel Encinas‐Gimenez, Jose I. Garcia‐Peiro, Jose L. Hueso, Eduardo Caleiras, Laura Notario, Felipe Hornos, Pilar Martin‐Duque, Antonio De la Vieja, Jesus Santamaria   +8 more
wiley   +1 more source

DNA repair, DNA replication and human disorders: A personal journey [PDF]

, 2012
I was born in 1946 and grew up in the industrial north-west of England close to the city of Manchester. My parents were German- Jewish refugees, who left Germany fairly early, in 1933.
Alan R. Lehmann, Barnes, Barnes, Bienko, Bohr, Broughton, Burk, Carr, Cleaver, Cordonnier, Daigaku, Domon, Edmunds, Fenech, Fousteri, Gebara, Griffiths, Henderson, Hirano, Hoege, Johnson, Kannouche, Kannouche, Kannouche, Karras, Kleijer, Lee, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lett, Ley, Masutani, Mayne, McDonald, McGrath, Mellon, Murray, Murray, Nduka, Ogi, Okazaki, Palecek, Phipps, Regan, Rupp, Rupp, Saitoh, Savitsky, Schaeffer, Schmickel, Sergeant, Setlow, Stefanini, Strunnikov, Taylor, Taylor, Taylor, Teo, Tissier, Tsukada, van Duin, Venema, Weber   +75 more
core   +1 more source

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, EarlyView.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source