Results 51 to 60 of about 4,338 (156)

A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 139-149, August 2026.
We propose a phenotype‐based diagnostic framework for short telomere syndrome that integrates age‐adjusted telomere length, phenotypic manifestations, and genetic findings, where available. The framework is intended to guide clinical evaluation, longitudinal surveillance, and individualized management while acknowledging limitations in current telomere
Andrew Courtwright, Richard A. King, Jennie Vagher, Cate T. Levy, Juan Gallegos F. Orozco, Luis FZ Batista, Afaf Osman, Srinivas Tantavahi, Mary Beth Scholand   +8 more
wiley   +1 more source

Molecular Interplay of PARN and Telomerase: Tail Modifiers and Disease Implications

WIREs RNA, Volume 17, Issue 4, July/August 2026.
Schematic representation of the molecular interplay between PARN, telomerase‐associated, and the involvement of p53 in regulating telomere maintenance and genome stability. The top panel shows how normal PARN levels are involved in regulating p53 levels and balanced telomerase activity through their regulatory interaction with TERC and TERRA, thus ...
Sujitha Felicitus, Shalon Suzanne Pinto, Sai Samanvitha Madagundapalli Ramakrishna, Dechamma Pandyanada Nanjappa, Gunimala Chakraborty, Anirban Chakraborty   +5 more
wiley   +1 more source

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1068-1099, July 2026.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

Mutant Mice Lacking the p53 C-Terminal Domain Model Telomere Syndromes

Cell Reports, 2013
Mutations in p53, although frequent in human cancers, have not been implicated in telomere-related syndromes. Here, we show that homozygous mutant mice expressing p53Δ31, a p53 lacking the C-terminal domain, exhibit increased p53 activity and suffer from
Iva Simeonova, Sara Jaber, Irena Draskovic, Boris Bardot, Ming Fang, Rachida Bouarich-Bourimi, Vincent Lejour, Laure Charbonnier, Claire Soudais, Jean-Christophe Bourdon, Michel Huerre, Arturo Londono-Vallejo, Franck Toledo   +12 more
doaj   +1 more source

The Underestimated Role of Environmental Factors in the Prevention of Invasive Fungal Disease: Experience From a European Childhood Cancer Centre

Mycoses, Volume 69, Issue 7, July 2026.
ABSTRACT Background Immunocompromised children with hematologic malignancies or undergoing allogeneic haematopoietic stem cell transplantation (HSCT) are at high risk for invasive fungal diseases (IFDs). Reported incidence varies considerably due to heterogeneous diagnostic criteria, antifungal strategies and environmental conditions.
Stefano Malvestiti, Felicia Andresen, Markus Hufnagel, Carsten Speckmann, Brigitte Strahm, Tobias Feuchtinger, Alexander Puzik   +6 more
wiley   +1 more source

Early‐Onset Mucocutaneous Findings and Isolated Progressive Thrombocytopenia in a Child With a DKC1 A353V Variant

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Dyskeratosis congenita (DC) is a rare telomere biology disorder characterized by mucocutaneous abnormalities and progressive bone marrow failure. We report a 10‐year‐old boy with a hemizygous DKC1 c.1058C > T (p.Ala353Val) variant who presented with unusually early mucocutaneous findings, including oral leukoplakia at 2 years of age, followed ...
Harun Kasapoğlu, Aslı Turgutoğlu Yılmaz, Berkin Berk Akbeyaz, Neslihan Çalışkan, Yılmaz Ay   +4 more
wiley   +1 more source

Atypical Whitish Gingival Plaque

Oral Diseases, EarlyView.
Maria Eduarda Camilo Rezende, Rafael Rodrigues Dias, Jorge Esquiche León, Heitor Albergoni Silveira   +3 more
wiley   +1 more source

Mucosal Cancers Arising in Potentially Malignant Lesions of the Oral Mucosa Are Marjolin Ulcers: New Insights Into Old Concepts

Dermatology Practical & Conceptual
Introduction: Several disparate mucocutaneous diseases present oral mucosal lesions that have been classically labeled as “pre-cancerous,” “pre-malignant,” or “potentially malignant” These include oral lichen planus, dyskeratosis congenita, tertiary ...
Nycolle Louise Guedes, Silvia Vanessa Lourenço, Marcello Nico   +2 more
doaj   +1 more source

Mutations in the telomere capping complex in bone marrow failure and related syndromes

Haematologica, 2013
Dyskeratosis congenita and its variants have overlapping phenotypes with many disorders including Coats plus, and their underlying pathology is thought to be one of defective telomere maintenance. Recently, biallelic CTC1 mutations have been described in
Amanda J. Walne, Tanya Bhagat, Michael Kirwan, Cyril Gitiaux, Isabelle Desguerre, Norma Leonard, Elena Nogales, Tom Vulliamy, Inderjeet S. Dokal   +8 more
doaj   +1 more source

Hematopoietic cell transplantation in Fanconi anemia and dyskeratosis congenita: A minireview

Hematology/Oncology and Stem Cell Therapy, 2017
Bone marrow failure syndrome is an epithet of bone marrow failure (all or single-cell lineage) that is attributable to an underlying genetic aberration usually with a constellation of somatic abnormalities.
Mouhab Ayas
doaj   +1 more source