Results 111 to 120 of about 77,321 (235)

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

open access: yesPediatric Blood &Cancer, Volume 73, Issue 9, September 2026.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo   +5 more
wiley   +1 more source

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

open access: yesAmerican 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   +10 more
wiley   +1 more source

The Case for Master Protocols for Rare Neurological Diseases

open access: yesAnnals 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   +8 more
wiley   +1 more source

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

open access: yesCell 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   +4 more
wiley   +1 more source

A Case Giving Early Findings, But Diagnosed Late: Ataxia Telangiectasia Ataxia Telangiectasia Case Report

open access: yes, 2020
Ataxia telangiectasia is a neurodegenerative disease exhibiting autosomal recessive genetic transmission. The principal finding ofthe disease is truncal ataxia emerging in the first years.
Bağış, Haydar   +2 more
core  

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

open access: yesCancer 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   +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

open access: yesRevista 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   +8 more
doaj  

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

open access: yesCancer 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   +6 more
wiley   +1 more source

Advances in Immunological Combination Therapy for Colorectal Cancer

open access: yesiMetaMed, Volume 2, Issue 3, September 2026.
Review the progress of combined immunotherapy for colorectal cancer. ABSTRACT Immune checkpoint inhibitors (ICIs) have been utilized extensively and shown to be therapeutically beneficial in the treatment of solid tumors in recent years. Nonetheless, considerable heterogeneity in Colorectal cancer (CRC) requires careful consideration.
Jiayue Wu   +7 more
wiley   +1 more source

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

open access: yesIranian 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   +6 more
doaj  

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