Results 81 to 90 of about 30,325 (199)

My A–T pack: a qualitative study of the utility, acceptability, design, and content of a family-designed and owned information pack relevant to the lives of children and young people living with ataxia telangiectasia

Orphanet Journal of Rare Diseases
Background Ataxia telangiectasia (A–T) is a rare genetic and progressive condition, primarily affecting the neurological, immunological, and pulmonary systems.
Munira Khan, Elizabeth Cassidy, Tracey Parkin, Amanda Wallace, Bernie Carter, William Whitehouse, James Munro, Joanne Paton, A.-Team Collaborative, Lisa Bunn   +9 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

Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control

FEBS Open Bio, Volume 16, Issue 7, Page 1305-1313, July 2026.
Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada, Mina Iwaki, Kyosuke Hagiri, Rei Izumi, Masahiko Harata, Chihiro Horigome   +5 more
wiley   +1 more source

Chromosomal Instability Drives Glioblastoma Heterogeneity and Therapeutic Opportunities

Advanced Science, Volume 13, Issue 39, 13 July 2026.
ABSTRACT Glioblastoma, the most aggressive and lethal form of brain cancer, is defined by profound genomic instability, with Chromosomal Instability (CIN) playing a central role in driving tumor progression, therapy resistance, and poor prognosis. CIN is characterized by numerical and structural alterations, is driven by mechanisms such as mitotic ...
Amarnath Pal, Milan Patra, Rianita Mondal, Shubhasis Haldar   +3 more
wiley   +1 more source

Nuclear dysfunction in aging and neurodegeneration

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Neurodegenerative diseases are characterized by a loss of neuronal function and structure, often in a region‐specific manner. Multiple factors contribute to neuronal dysfunction and death, including pathogenic protein buildup, protein mislocalization, and inflammation. Despite extensive research, the common mechanisms driving neurodegeneration
Abbigael Aday, Jack Tiller, Adarsh Melukote, Zachary C. Walton, Anna King, Luke Castillo, Rakez Kayed, Mauro Montalbano   +7 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

Duocarmycin‐Bearing Antibody‐Mimetic Drug Conjugate Combined With an ATR Inhibitor Results in Complete Tumor Regression in a KPL‐4 Xenograft Model

Cancer Medicine, Volume 15, Issue 7, July 2026.
ABSTRACT Antibody–drug conjugates (ADCs) have demonstrated superior clinical outcomes in patients with HER2‐positive advanced breast cancer compared with previous treatment modalities. However, resistance and treatment‐limiting toxicities frequently emerge during repeated administration, underscoring an unmet need for strategies to overcome ADC failure.
Toshiya Tanaka, Akira Sugiyama, Juri Sakata, Toshifumi Tatsumi, Hiroto Katoh, Keisuke Maeda, Yuya Inagaki, Takefumi Yamashita, Takeshi Kawamura, Mayu Kuratani, Taiki Nakano, Masazumi Ishii, Mai Miura, Wakana Kamiya, Yuko Shiratori, Hisato Kitanoya, Michael Chansler, Naoki Harada, Masayuki Tsuchiya, Tsuyoshi Osawa, Shumpei Ishikawa, Tatsuhiko Kodama, Kenzo Yamatsugu, Hidetoshi Tokuyama, Motomu Kanai   +24 more
wiley   +1 more source

The Landscape of BRCA1‐Associated Post‐Translational Modifications

Cell Biology International, Volume 50, Issue 7, July 2026.
ABSTRACT The BRCA1‐BARD1 complex is a vital protein that promotes homologous recombination, acting through its E3 ubiquitin ligase activity. Although ubiquitination remains its only confirmed enzymatic function, emerging evidence suggests that the complex influences a broad range of post‐translational modifications (PTMs), including methylation ...
Nethma Hewa Waduge, Junhua Xiao, Gregory M. Davis   +2 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  

SARS‐CoV‐2 and Cancer Biology: Exploring the Mechanistic Links

Cancer Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background Five years after the emergence of SARS‐CoV‐2 and the declaration of the COVID‐19 pandemic, the long‐term implications of COVID‐19 for cancer biology remain incompletely understood. Beyond the major disruptions in cancer screening, diagnosis, and treatment observed worldwide, increasing attention has focused on whether SARS‐CoV‐2 ...
Andrea Orue, Alejandro Cornejo, Héctor Rafael Rangel   +2 more
wiley   +1 more source