Results 81 to 90 of about 30,315 (187)

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Ferroptosis‐Based Peripheral Immune Dysregulation and Diagnostic Signatures in Parkinson's Disease: An RNA Transcriptomic and Single‐Cell Immune Sequencing Analysis

The FASEB Journal, Volume 40, Issue 15, 15 August 2026.
This study explored the crosstalk between ferroptosis‐related genes and peripheral immune alterations in Parkinson's disease. We constructed a gene signature and classified molecular subtypes, and further pinpointed key ferroptosis‐associated molecules in immune cells and neuronal cells.
Lei Cheng, Jing Zhang, Wen‐Ting Shi, Qing Ye, Chen Huang, Zhong‐Yan Zhou   +5 more
wiley   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, Volume 73, Issue 8, August 2026.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

Goniothalamin as a Styryl‐Lactone Toxicophore in Cancer Models: Electrophile‐Driven DNA Damage, Reactive Oxygen Species–Endoplasmic Reticulum Stress Signaling and Detoxification‐Relevant Safety Considerations

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
Goniothalamin (GTN) exerts anticancer effects by promoting reactive oxygen species (ROS) generation, glutathione (GSH) depletion, DNA damage, endoplasmic reticulum (ER) stress, and mitochondrial dysfunction. These interconnected events trigger apoptosis, necroptosis, anoikis, and autophagy, while modulating mitogen‐activated protein kinase (MAPK ...
Nataša Joković, Strahinja Pešić, Marija Novaković, Anđela Dubroja Krstić, William N. Setzer, Javad Sharifi‐Rad, Daniela Calina   +6 more
wiley   +1 more source

Walking Capacity in Children With Ataxia Telangiectasia From the Global Ataxia Telangiectasia Family Data Platform

Annals of the Child Neurology Society
Objective Walking capacity declines prematurely in individuals with ataxia telangiectasia. However, granular data on walking capacity loss in ataxia telangiectasia are scarce. In this large cross‐sectional cohort, we describe age‐related walking capacity
Biljana Horn, Alex Smith, Jennifer Thornton, Tara Symonds, Maureen Roden, Dirk Thye, William P. Whitehouse   +6 more
doaj   +1 more source

Repercussions of Diagnostic Delay in Rare Diseases

Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.
ABSTRACT Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences.
Luisa Rezende Batista, Luiza Fernandes Valente, Fernando Spina, Davi Said Gonçalves Celso, Israel Gomy, Christiane Mariotini‐Moura   +5 more
wiley   +1 more source

Staging concept for aging management: Definition, mechanism, and coping strategies

VIEW, Volume 7, Issue 4, August 2026.
We divided the overall aging stage into “pre‐aging”, “aging compensation”, and “aging disability”. For each stage, we delineate the clinical presentations, biological phenomena, theoretical underpinnings, and key management priorities. Abstract Aging, as a gradual and largely irreversible biological process, characterized by declining organismal ...
Zhonghan Wang, Shixian Liu, Shangyu Du, Xiangran Cui, Bo Chao, Minglei Liu, Minfei Wu   +6 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  

"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