Results 71 to 80 of about 46,967 (195)

Accurate diagnostics of ataxia-telangiectasia cellular phenotype by employing in vitro lymphocyte radiosensitivity testing [PDF]

Nuclear Technology and Radiation Protection, 2013
In this paper we present the data of lymphocyte radiosensitivity testing used for characterization of radiosensitive cellular phenotype and diagnostics of ataxia-telangiectasia disease. We point out the advantage of lymphocyte micronucleus test (CBMN)
Vujić Dragana S., Petrović Sandra Ž., Leskovac Andreja R., Joksić Ivana D., Filipović Jelena G., Valenta-Šobot Ana P.   +5 more
doaj   +1 more source

Ataxia-Telangiectasia — Caso Clínico

, 2014
A ataxia-telangiectasia é uma doença multissistémica complexa caracterizada por ataxia cerebelosa progressiva, apraxia oculomotora, telangiectasias oculocutâneas e imunodeficiência primária envolvendo de modo variável a imunidade celular e humoral.
Marques, Laura, Carrilho, Inês, Gonçalves, Sara, Barbot, Clara   +3 more
core   +1 more source

ATM (ataxia telangiectasia mutated) [PDF]

, 1999
Review on ATM (ataxia telangiectasia mutated), with data on DNA, on the protein encoded, and where the gene is ...
JO Bay, Uhrhammer, N, RA Gatti, N Uhrhammer, Bay, JO, Gatti, RA   +5 more
core   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

ATM (ataxia telangiectasia mutated) [PDF]

, 1998
Review on ATM (ataxia telangiectasia mutated), with data on DNA, on the protein encoded, and where the gene is ...
Huret, JL
core   +1 more source

Global Real‐World Outcomes of Olaparib in Metastatic Castration‐Resistant Prostate Cancer Patients With Homologous Recombination Repair Alterations

International Journal of Cancer, EarlyView.
ABSTRACT Evidence to guide the treatment for patients with metastatic castration‐resistant prostate cancer (mCRPC) and Homologous Recombination Repair (HRR) gene alterations outside of clinical trials remains limited. This was an observational, cohort study, including mCRPC patients with tumor harboring HRR alterations, progressed on a prior androgen ...
Lorena Incorvaia, Daniele Santini, Marc R. Matrana, Marco Maruzzo, Ray Manneh Kopp, Lorenzo Antonuzzo, Sergio Bracarda, Deniz Tural, Giuseppe Procopio, Maria T. Bourlon, Orazio Caffo, Martin Ignacio Zapata Laguado, Massimo Di Maio, Brigida Anna Maiorano, Vincenza Conteduca, Sabrina Rossetti, Helga Lipari, Thomas Büttner, Mimma Rizzo, Yüksel Ürün, Carlo Messina, Fernando Sabino Marques Monteiro, Andrey Soares, Mattia Puglisi, Alice Principi, Eleonora Lai, Giulia Mammone, Marco Stellato, Ilaria Depetris, Tancredi Didier Bazan Russo, Isadora Yasbick Spricido, Camila Bobato Lara Gismondi, Francesco Massari, Nicola Pavan, Matteo Santoni, Tarek Taha   +35 more
wiley   +1 more source

ATP Citrate Lyase in Metabolic Disease: Mechanistic Insights and Clinical Potential

iNew Medicine, EarlyView.
ATP citrate lyase (ACLY) is a central metabolic hub that diverts mitochondrial citrate to fuel de novo lipogenesis, cholesterol biosynthesis, and protein acetylation. Given its robust correlation with pathological changes in multiple human diseases, ACLY inhibitors featuring distinct pharmacological strengths have been developed for therapeutic ...
Wenbiao Wang, Xinyan Li, Honglu Shi, Gaolei Song, Zhifu Xie, Jingya Li   +5 more
wiley   +1 more source

Prevention of Early Onset of Breast Cancer With Ashwagandha

Molecular Carcinogenesis, EarlyView.
ABSTRACT Prevention of breast cancer is feasible because many risk factors for this malignancy are known (e.g., family history, reproductive factors, etc.). Medicinal plants and/or their bioactive phytochemicals are attractive for the prevention of early onset of breast cancer due to their generally favorable safety profile.
Eun‐Ryeong Hahm, Su‐Hyeong Kim, Shivendra V. Singh   +2 more
wiley   +1 more source

Case Presentation: Large Diffuse B-cell Lymphoma Developing in the Context of Primary Immunodeficiency

Çocuk Dergisi
Ataxia Telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disorder characterized by immunodeficiency. Clinically, it is known to be associated with progressive cerebellar ataxia starting in early childhood, oculocutaneous telangiectasia,
Hikmet Gülşah Tanyıldız, Hasan Atalay Tuncay, Şifa Şahin, Yasin Yılmaz, Serap Karaman   +4 more
doaj   +1 more source

Senotherapeutics for Knee Osteoarthritis

Medicinal Research Reviews, EarlyView.
ABSTRACT Osteoarthritis (OA) is a chronic disease that imposes a significant economic burden and deteriorates quality of life. Nevertheless, current therapeutic options for OA are limited to symptomatic remedies. As such, there is a high interest in novel methods for treating or preventing OA.
Ezgi Duman, Girish Pattappa, Patrick Pann, Stephan Reppenhagen, Maximilian Rudert, Peter Angele, Denitsa Docheva   +6 more
wiley   +1 more source