Results 111 to 120 of about 46,967 (195)

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, Volume 600, Issue 18, Page 2800-2813, September 2026.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Características clínicas y de laboratorio en una cohorte de pacientes con ataxia telangiectasia en el Grupo de Inmunodeficiencias Primarias de la Universidad de Antioquía

Revista Alergia México, 2018
Antecedentes: La ataxia telangiectasia (AT, OMIM #3208900) es una enfermedad autosómica recesiva con una incidencia de 1:100 0000 nacidos vivos y caracterizada por telangiectasias, ataxia progresiva, inmunodeficiencia y sensibilidad a la radiación ...
Lina Rocío Riaño, Jesús Armando Álvarez, Julio César Orrego, Dagoberto Cabrera, Carolina Gómez, Héctor Valderrama, Alexandra Sierra, Derly Carolina Hernández, José Luis Franco   +8 more
doaj  

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, Volume 200, Issue 9, Page 2099-2105, September 2026.
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

The Case for Master Protocols for Rare Neurological Diseases

Annals of Neurology, Volume 100, Issue 3, Page 477-486, September 2026.
Master protocol trials allow for simultaneous multiple hypothesis testing within a common framework and might be applicable for rare diseases. In May 2025, the Network for Excellence in Neuroscience Clinical Trials convened a multistakeholder conference to discuss master protocol trials in rare neurological disorders.
Jennifer Vermilion, Sabrina Paganoni, Scott R. Plotkin, Melanie Quintana, Sara B. Calvert, Ineka T. Whiteman, Raymond Y. Wang, Nadia Moore, Erika F. Augustine   +8 more
wiley   +1 more source

The Significance of cGAS‐STING Signaling in Response to Oncogenic Viruses

Cell Biochemistry and Function, Volume 44, Issue 9, September 2026.
ABSTRACT The cyclic GMP‐AMP synthase (cGAS)‐stimulator of interferon genes (STING) signaling pathway, as a key DNA sensor, plays a significant role in the regulation of innate immune responses. This pathway can be activated by sensing abnormal DNA, and is of great significance for resisting the invasion of pathogenic microorganisms and maintaining ...
Limei Guo, Li Li, Fang Wang, Wen Liu, Yan Zhang   +4 more
wiley   +1 more source

"ATM Gene Mutations Detection in Iranian Ataxia-Telangiectasia Patients "

Iranian Journal of Allergy, Asthma and Immunology, 2004
Ataxia-Telangiectasia (AT) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition.
Toshio MiyawakiMohammad Hossein Sanati, Behnaz Bayat, Ahmad Aleyasin, Hasti Atashi Shirazi, Anna Isaian, Abolhassan Farhoudi, Mostafa Moin   +6 more
doaj  

ATAXIA-TELANGIECTASIA

Medicine, 1972
D E, McFarlin, W, Strober, T A, Waldmann
openaire   +2 more sources

AZD6738 (Ceralasertib) Enhances Trifluridine's Antitumor Effect in 5‐FU–Resistant Colorectal Cancer Cells

Cancer Reports, Volume 9, Issue 9, September 2026.
ABSTRACT Background Resistance to 5‐fluorouracil (5‐FU) remains a major obstacle in colorectal cancer (CRC) treatment. Trifluridine (FTD), the active component of TAS‐102, exerts cytotoxicity through DNA incorporation and reportedly remains active in 5‐FU‐resistant tumors, though with limited clinical efficacy.
Shuhei Uehara, Takuya Suzuki, Junki Kato, Hiroyuki Asai, Akira Kato, Shinnosuke Harata, Hajime Ushigome, Yushi Yamakawa, Takahisa Hirokawa, Hiroki Takahashi, Yoichi Matsuo, Shuji Takiguchi   +11 more
wiley   +1 more source

Ataxia-telangiectasia A guide for parents

, 1999
SIGLEAvailable from British Library Document Supply Centre-DSC:f99/2755 / BLDSC - British Library Document Supply CentreGBUnited ...
Ataxia-Telangiectasia Society, Harpenden (United Kingdom)
core  

Endogenous Bornavirus‐Like Nucleoprotein 1 Regulates Cellular Processes and DNA Double‐Strand Breaks in U‐87 MG Glioblastoma Cells

Cancer Reports, Volume 9, Issue 9, September 2026.
ABSTRACT Background Glioblastoma (GBM) is a common brain cancer with a poor prognosis and a high recurrence rate. DNA damage repair plays a crucial role in GBM carcinogenesis and treatment resistance. Human endogenous bornavirus‐like nucleoprotein 1 (EBLN1) regulates cellular processes and genetic stability. However, the biological role of EBLN1 in GBM
Jing Liang, Dongdong Zeng, Yujie Guo, Cuiyuan Jing, Lin Tang, Zhanpeng Luo, Peng He   +6 more
wiley   +1 more source