Results 111 to 120 of about 35,381 (234)

Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia

, 2009
Ataxia telangiectasia (A-T) typically presents with early-onset progressive cerebellar ataxia, oculomotor apraxia and later, oculo-cutaneous telangiectasia. Extrapyramidal symptoms, apart from chorea, are rare. In this paper, we report a case of A-T with
Carrillo, F, Bhatia, KP, Kapoor, R, Taylor, Alexander, Schneider, SA, Srinivasan, Venkataramanan   +5 more
core   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, Volume 99, Issue 6, Page 1363-1378, June 2026.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 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

CDK7 as a Potential Exploratory Biomarker for Distinguishing Acute Myocardial Infarction Subtypes via DDR Pathways: Evidence From a Bangladeshi Cohort

Clinical Cardiology, Volume 49, Issue 6, June 2026.
Differential expression of DNA damage response genes was evaluated in Bangladeshi AMI patients. CDK7 showed significantly higher expression in NSTEMI compared to STEMI, while ATM, OGG1, and NBN showed no subtype‐specific differences, highlighting potential transcriptional heterogeneity between AMI subtypes.
Rifat Hossain Ripon, Hasnat Zahin, Abdullah Al Noman, Abdullah Al Saba, Mohammad Sayem, A.H.M. Nurun Nabi, Tahirah Yasmin   +6 more
wiley   +1 more source

The Silent Link: Exploring the Impact of Periodontal Diseases on Head and Neck Carcinogenesis

Clinical and Experimental Dental Research, Volume 12, Issue 3, June 2026.
ABSTRACT Objectives Oral dysbiosis can accelerate the progression of head and neck squamous cell carcinoma (HNSCC) by fostering a pro‐inflammatory, immunosuppressive, and metabolically altered environment. This narrative review examines the relationships between periodontitis‐associated bacteria and HNSCC, focusing on their impact on oncogenic pathways,
Yashmin Afshar, Nima Rezaei
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  

Sublineage‐Specific A45S Polymorphism Alters the Biological Function of the Human Papillomavirus 11 E7 Protein

Journal of Medical Virology, Volume 98, Issue 6, June 2026.
ABSTRACT The E7 oncoprotein of human papillomavirus (HPV) plays a crucial role in viral pathogenesis and replication. Although it is generally highly conserved across HPV genotypes, naturally occurring E7 variants can display functional differences that may affect viral persistence, oncogenic potential, and host cellular responses.
Zsolt Barnabás Éles, Leila Rahmani, Eszter Gyöngyösi, Krisztina Szarka, István Rebenku, György Veress, Tamás Major, József Kónya, Anita Szalmás   +8 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  

Oxidative stress in ataxia telangiectasia

, 2003
Ataxia telangiectasia is one of a group of recessive hereditary genomic instability disorders and is characterized by progressive neurodegeneration, immunodeficiency and cancer susceptibility.
Dianne J. Watters, Watters, Dianne, Watters, DJ   +2 more
core   +1 more source

The Role of N6‐Methyladenosine Modification in Health and Disease

MedComm, Volume 7, Issue 6, June 2026.
N6‐methyladenosine (m6A) is the most prevalent internal RNA modification in eukaryotes, acting as a pivotal epitranscriptomic regulator of RNA metabolism. This modification plays a dual role: it maintains physiological homeostasis under normal conditions but drives disease progression when dysregulated.
Linghuan Li, Yuanhai Sun, Wanfang Zheng, Lingqin Li, Yaqian Feng, Minyou Qi, Hanbing Li   +6 more
wiley   +1 more source