Results 41 to 50 of about 115,141 (275)

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

Case Reports in Genetics, 2020
Introduction. Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000–100,000 live births. This condition predominantly affects the nervous and immune systems. It is characterized by progressive ataxia beginning from
D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake   +6 more
doaj   +1 more source

Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations

Oman Medical Journal, 2020
Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhoodonset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is
Majid Zaki-Dizaji, Mohammad Tajdini, Fatemeh Kiaee, Hossein Shojaaldini, Reza Shervin Badv, Hassan Abolhassani, Asghar Aghamohammadi   +6 more
doaj   +1 more source

Ataxia telangiectasia

Seminars in Pediatric Neurology, 1998
The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a dimension of biological research that is as complex and intriguing to cell biologists as this classic disorder has been to clinicians for four decades. The phenotype is both variable and stereotyped, with significant differences between patients in the rate of ...
T, Fukao, H, Kaneko, N, Kondo
openaire   +4 more sources

Ataxia-telangiectasia

Arquivos de Neuro-Psiquiatria, 1966
São apresentados os casos de dois irmãos com ataxia-telangiectasia, estudados sob os pontos de vista clínico, eletrencefalográfico, liquórico e encefalográfico.
Nelson Pires Ferreira
doaj   +1 more source

Functional classification of ATM variants in ataxia‐telangiectasia patients

Human Mutation, 2019
Ataxia‐telangiectasia (A‐T) is a recessive disorder caused by biallelic pathogenic variants of ataxia‐telangiectasia mutated (ATM). This disease is characterized by progressive ataxia, telangiectasia, immune deficiency, predisposition to malignancies ...
A. Fiévet, D. Bellanger, Guillaume Rieunier, Catherine Dubois d’Enghien, Julia Sophie, P. Calvas, J. Carrière, M. Anheim, A. Castrioto, O. Flabeau, B. Degos, C. Ewenczyk, N. Mahlaoui, F. Touzot, F. Suarez, M. Hully, A. Roubertie, N. Aladjidi, F. Tison, H. Antoine-Poirel, K. Dahan, D. Doummar, Marie-Christine Nouguès, C. Ioos, C. Rougeot, A. Masurel, Caroline Bourjault, E. Ginglinger, F. Prieur, A. Siri, P. Bordigoni, K. Nguyen, N. Philippe, C. Bellesme, F. Demeocq, C. Altuzarra, M. Mathieu-Dramard, F. Couderc, T. Dörk, N. Auger, B. Parfait, Khadija Abidallah, V. Moncoutier, Agnès Collet, D. Stoppa-Lyonnet, M. Stern   +45 more
semanticscholar   +1 more source

Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia

Stem Cell Research, 2023
Ataxia-Telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by mutations in the ataxia-telangiectasia mutated (ATM) gene, resulting, among other symptoms, in neurological dysfunction.
Wasifa Nurieva, Elena Ivanova, Sanabel Chehab, Parth Singh, Marina Reichlmeir, Karoly Szuhai, Georg W.J. Auburger, William C. Skarnes, Zoltán Ivics   +8 more
doaj   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia

Annals of Neurology, 2018
Variant ataxia‐telangiectasia is caused by mutations that allow some retained ataxia telangiectasia‐mutated (ATM) kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant ataxia‐telangiectasia
K. Schon, N. V. van Os, N. Oscroft, Helen Baxendale, D. Scoffings, J. Ray, M. Suri, William P. Whitehouse, Puja Mehta, Natasha Everett, L. Bottolo, Bart P. Warrenburg, Philip J. Byrd, C. Weemaes, Michèl A. Willemsen, M. Tischkowitz, A. Malcolm Taylor, Anke Hensiek   +17 more
semanticscholar   +1 more source

Inhibiting stearoyl‐CoA desaturase suppresses bone metastatic prostate cancer by modulating cellular stress, mTOR signaling, and DNA damage response

FEBS Letters, EarlyView.
Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson, Mackenzie K Herroon, Shane Mecca, Laimar C Garmo, Jacob Lindquist, Shrila Rajendran, Steve M. Patrick, Izabela Podgorski   +7 more
wiley   +1 more source

Modeling hepatic fibrosis in TP53 knockout iPSC‐derived human liver organoids

Molecular Oncology, EarlyView.
This study developed iPSC‐derived human liver organoids with TP53 gene knockout to model human liver fibrosis. These organoids showed elevated myofibroblast activation, early disease markers, and advanced fibrotic hallmarks. The use of profibrotic differentiation medium further amplified the fibrotic signature seen in the organoids.
Mustafa Karabicici, Soheil Akbari, Ceyda Caliskan, Canan Celiker, Ozden Oz, Leman Binokay, Gökhan Karakulah, Serif Senturk, Esra Erdal   +8 more
wiley   +1 more source