Results 41 to 50 of about 53,382 (220)

Disorders of Upper Limb Movements in Ataxia-Telangiectasia. [PDF]

PLoS ONE, 2013
Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia.
Aasef G Shaikh, David S Zee, Allen S Mandir, Howard M Lederman, Thomas O Crawford   +4 more
doaj   +1 more source

Radiation-induced Assembly of Rad51 and Rad52 Recombination Complex Requires ATM and c-Abl [PDF]

, 1999
Cells from individuals with the recessive cancer-prone disorder ataxia telangiectasia (A-T) are hypersensitive to ionizing radiation (I-R). ATM (mutated in A-T) is a protein kinase whose activity is stimulated by I-R. c-Abl, a nonreceptor tyrosine kinase,
Arlinghaus, Ralph, Baltimore, David, Chen, Gang, Cong, Feng, Gasser, Paul J., Goff, Stephen P., Lee, Eva Y.-H. P., Liu, Wei, Park, Min S., Song, Binwei, Sung, Patrick, Trujillo, Kelly, Wu, Yun, Xu, Yang, Yuan, Shyng-Shiou F.   +14 more
core   +1 more source

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes

Tremor and Other Hyperkinetic Movements, 2016
Background: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia.
Toni S. Pearson
doaj   +1 more source

Ataxia-telangiectasia With Acute Rheumatic Fever: A Case Report [PDF]

Journal of Pediatrics Review, 2023
Background: Ataxia-telangiectasia is a multi-organ disease. It is due to a mutation of the Exon No. 5 ataxia telangiectasia mutated gene (c.381delA: p.v128fls).
Mohammad Reza Khosravi, Ghazal Abbasi, Leila Shahbaznejad, Javad Ghaffari, Abbas Dabghzade   +4 more
doaj  

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome [PDF]

, 2012
A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel Syndrome (SS). Here, we provide the first identification of a Seckel Syndrome patient with mutations
A Ciccia, A Klingseisen, A Rauch, A. Malcolm R. Taylor, AD Borglum, Andrew O. M. Wilkie, D Cortez, DL Guernsey, E Griffith, E Kalay, EA Nam, Emma Hobson, EN Noensie, F Majewski, Gillian Carpenter, GK Alderton, GK Thornton, Grant S. Stewart, HL Ball, IM Ward, J Falck, J Goodship, JG Hall, Katrina Prescott, L Zou, LI Toledo, LS Bicknell, LS Bicknell, M Murga, M O'Driscoll, M Willems, Margaret Barrow, Mark O'Driscoll, Michiko Matsuse, Mohnish Suri, MS Al-Dosari, ND Lakin, Norisato Mitsutake, P Qvist, Penny A. Jeggo, Philip J. Byrd, PR Andreassen, Pradeep Vasudevan, RA Chanoux, RJ Gorlin, SA de Munnik, Sarah Walker, Siripan Limsirichaikul, Tom Stiff, Tomoo Ogi, V Paciotti, Y Namiki, Yuka Nakazawa   +52 more
core   +8 more sources

Mechanisms of chemotherapy-induced human ovarian aging: double strand DNA breaks and microvascular compromise [PDF]

, 2011
The mechanism of chemotherapy-induced acceleration of ovarian aging is not fully understood. We used doxorubicin, a widely used cancer chemotherapeutic, in a variety of in vivo xenograft, and in vitro models to investigate the impact of chemotherapy ...
Darzynkiewicz, Zbigniew, Heytens, Elke, Oktay, Kutluk, Soleimani, Reza   +3 more
core   +1 more source

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

Activation of mammalian Chk1 during DNA replication arrest: a role for Chk1 in the intra-S phase checkpoint monitoring replication origin firing [PDF]

, 2001
Checkpoints maintain order and fidelity in the cell cycle by blocking late-occurring events when earlier events are improperly executed. Here we describe evidence for the participation of Chk1 in an intra-S phase checkpoint in mammalian cells.
Feijoo, Carmen, Gilbert, David M., Hall-Jackson, Clare, Jenkins, David, Leitch, Jane, Smythe, Carl, Wu, Rong   +6 more
core   +2 more sources

Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 – case report and review of the literature

Frontiers in Neurology, 2023
Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which causes
Agnieszka Bajek, Dominika Przewodowska, Dariusz Koziorowski, Maria Jędrzejowska, Maria Jędrzejowska, Stanisław Szlufik   +5 more
doaj   +1 more source

ATM in focus:a damage sensor and cancer target [PDF]

, 2012
The ability of a cell to conserve and maintain its native DNA sequence is fundamental for the survival and normal functioning of the whole organism and protection from cancer development.
Khalil, Hilal S., Tummala, Hemanth, Zhelev, Nikolai   +2 more
core   +4 more sources