Results 171 to 180 of about 115,141 (275)

Mapping the non-coding RNA landscape in ataxia telangiectasia: a scoping review of ATM dependent miRNA and lncRNA dysregulation. [PDF]

Mol Biol Rep
Iqbal MJ, Ameen U, Tanveer H, Israr L, Ricci A, Morganti G, Khan MJ, Menotta M.   +7 more
europepmc   +1 more source

NAD+ Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair.

Cell Metabolism, 2016
E. Fang, H. Kassahun, D. Croteau, M. Scheibye-Knudsen, Krisztina Marosi, Huiming Lu, R. Shamanna, S. Kalyanasundaram, R. C. Bollineni, M. Wilson, Wendy B. Iser, Bradley N. Wollman, M. Morevati, Jun Li, J. Kerr, Q. Lu, Tyler B. Waltz, Jane Y. Tian, D. Sinclair, M. Mattson, H. Nilsen, V. Bohr   +21 more
semanticscholar   +1 more source

Novel Ataxia Telangiectasia and Rad3-Related Protein (ATR) Phenotype: Marfanoid Appearance, Generalized Hypermobility, Gait Imbalance, and Poor Wound Healing: A Case Report. [PDF]

Cureus
Sadler ZA, Unger MD.
europepmc   +1 more source

Flow cytometry as an important tool in the diagnosis of immunodeficiencies demonstrated in a patient with ataxia-telangiectasia

, 2016
Alessandro De Stefano, Andreas Boldt, Lydia Schmiedel, Ulrich Sack, Karim Kentouche   +4 more
openalex   +1 more source

Epigenetic Insights into Tuberous Sclerosis Complex, Von Hippel-Lindau Syndrome, and Ataxia-Telangiectasia. [PDF]

Epigenomes
Hadjigavriel G, Stylianides C, Axarloglou E, Manthou ME, Vakirlis E, Theotokis P, Meditskou S, Dermitzakis I.   +7 more
europepmc   +1 more source

A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype.

Human Molecular Genetics, 2016
Hazel Quek, J. Luff, KaGeen Cheung, S. Kozlov, M. Gatei, C. S. Lee, M. Bellingham, P. G. Noakes, Y. Lim, N. Barnett, Steve Dingwall, E. Wolvetang, T. Mashimo, T. Roberts, M. Lavin   +14 more
semanticscholar   +1 more source

Bub3 is phosphorylated by the ataxia-telangiectasia mutated kinase in mitosis and required for activation of the mitotic spindle checkpoint in breast cancer

, 2019
Mian Xiao, Bo Xu
openalex   +1 more source

ATM deficiency drives phenotypic diversity and Purkinje cell degeneration in a macaque model of ataxia-telangiectasia. [PDF]

Cell Rep Med
Xu K, Zhang Y, Chen Y, Zhu X, Li Y, Lv L, He X, Hu Z, Li Y, Ye M, Jiang D, He Z, Jin W, Li Y, Yu X, Zhang DF, Herrup K, Zheng P, Yao YG, Wu DD, Li J.   +20 more
europepmc   +1 more source

Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort

Pediatric Research, 2016
A. Nissenkorn, Y. Levy-Shraga, Yonit Banet-Levi, A. Lahad, I. Sarouk, D. Modan-Moses   +5 more
semanticscholar   +1 more source

Impaired Endoplasmic Reticulum (ER)-Mitochondrial Signaling in Ataxia-Telangiectasia Contributes to Mitochondrial Dysfunction

, 2020
Abrey J. Yeo, Chong L. Kok, Magtouf Gatei, Dongxiu Zou, Romal Stewart, Sarah Withey, Ernst J. Wolvetang, Robert G. Parton, Adam Brown, Michael B. Kastan, David Coman, Martin F. Lavin   +11 more
openalex   +1 more source