Results 61 to 70 of about 7,235 (159)

A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome

Endocrine Regulations, 2023
Objective. Kabuki syndrome (KS) is associated with hyperinsulinemic hypoglycemia (HH) in 0.3–4% of patients, thus exceeding the prevalence in the general population.
Maines Evelina, Maiorana Arianna, Leonardi Letizia, Piccoli Giovanni, Soffiati Massimo, Franceschi Roberto   +5 more
doaj   +1 more source

Structural bioinformatics enhances the interpretation of somatic mutations in KDM6A found in human cancers

Computational and Structural Biotechnology Journal, 2022
The histone demethylase KDM6A has recently elicited significant attention because its mutations are associated with a rare congenital disorder (Kabuki syndrome) and various types of human cancers.
Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Leverence, Brian C. Smith, Brian F. Volkman, Angela J. Mathison, Gwen Lomberk, Michael T. Zimmermann, Raul Urrutia   +9 more
doaj   +1 more source

Extranodal natural killer/T‐cell lymphoma: From fatal to curable

CA: A Cancer Journal for Clinicians, Volume 76, Issue 4, July/August 2026.
Abstract Extranodal natural killer (NK)/T‐cell lymphoma (ENKTCL) is one of the most aggressive non‐Hodgkin lymphomas characterized by NK‐cell or T‐cell origins, a geographic prevalence in Asian and South American populations, and Epstein–Barr virus (EBV) infection.
Jie Xiong, Yok‐Lam Kwong, Laurence de Leval, Shu‐Nan Qi, Choon Kiat Ong, Philippe Gaulard, Arnaud Jaccard, Steven M. Horwitz, Ye‐Xiong Li, Sai‐Juan Chen, Ritsuro Suzuki, Won Seog Kim, Wei‐Li Zhao   +12 more
wiley   +1 more source

T Cell Exhaustion in Cancer Immunotherapy: Heterogeneity, Mechanisms, and Therapeutic Opportunities

Advanced Science, Volume 13, Issue 35, 24 June 2026.
T cell exhaustion limits immunotherapy efficacy. This article delineates its progression from stem‐like to terminally exhausted states, governed by persistent antigen, transcription factors, epigenetics, and metabolism. It maps the exhaustion landscape in the TME and proposes integrated reversal strategies, providing a translational roadmap to overcome
Yang Yu, Xiaoyu Yao, Qingyang Wang, Mengrui Yang, Runze Li, Jiangjiang Qin, Jing Zhuang, Changgang Sun   +7 more
wiley   +1 more source

Loss of KDM6A Confers Drug Resistance in Acute Myeloid Leukemia

Blood, 2018
Abstract Acute myeloid leukemia (AML) is an aggressive hematologic cancer resulting from the malignant transformation of myeloid progenitors. Despite intensive chemotherapy, relapse caused by intrinsic or acquired drug resistance remains a major hurdle in the treatment of AML.
Stief, S.M., Hanneforth, A., Mattes, R., Weser, S., Vick, B., Bartoschek, M.D., Moreno, H.D., Liu, W.-H., Ksienzyk, B., Rothenberg-Thurley, M., Quentmeier, H., Hiddemann, W., Metzeler, K.H., Schotta, G., Bultmann, S., Jeremias, I., Leonhardt, H., Spiekermann, K.   +17 more
openaire   +2 more sources

Sex differences in brain glucose metabolism and Alzheimer's disease risk and progression

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract Sex differences are increasingly recognized as central to the biology of Alzheimer's disease (AD), yet the mechanisms through which they shape brain metabolism and disease vulnerability remain incompletely understood. Brain glucose hypometabolism is a core hallmark of AD and emerges decades before clinical decline, but accumulating evidence ...
Marjan Ramezan, Aphrodite Demetriou, Sara Nicole Burke, Ivan Nalvarte, Andrew C. Shin   +4 more
wiley   +1 more source

Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons

Advanced Genetics, Volume 7, Issue 2, June 2026.
This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Colin Jones, Ambalangodage C. Jayasuriya
wiley   +1 more source

CEBP and ZEB2 alterations define three distinct subtypes of B‐cell acute lymphoblastic leukemia

HemaSphere, Volume 10, Issue 6, June 2026.
Abstract B‐cell acute lymphoblastic leukemia (B‐ALL) is a heterogeneous malignancy driven by diverse genetic alterations. Among these, CEBP family genes and ZEB2 are recurrently involved, yet the spectrum of genomic mechanisms and their clinical impact remain incompletely defined.
Rathana Kim, Marie Passet, Hugo Bergugnat, Loïc Vasseur, Thibaut Leguay, Françoise Huguet, Mathilde Hunault, Tom Sexton, Melha Benlebna, Julie Renard, Emmanuel Raffoux, Cédric Pastoret, Cathie Erb, Laureen Chat, Eric Delabesse, Stéphanie Gachet, Caroline Bonmati, Marie Balsat, Thorsten Braun, Audrey Bidet, Nicolas Duployez, Carlos Graux, Yves Chalandon, Philippe Rousselot, Patrice Chevallier, Jean Soulier, Véronique Lhéritier, Hervé Dombret, Nicolas Boissel, Emmanuelle Clappier   +29 more
wiley   +1 more source

Pharmacological targeting of KDM6A and KDM6B, as a novel therapeutic strategy for treating craniosynostosis in Saethre-Chotzen syndrome

Stem Cell Research & Therapy, 2020
Background During development, excessive osteogenic differentiation of mesenchymal progenitor cells (MPC) within the cranial sutures can lead to premature suture fusion or craniosynostosis, leading to craniofacial and cognitive issues.
Clara Pribadi, Esther Camp, Dimitrios Cakouros, Peter Anderson, Carlotta Glackin, Stan Gronthos   +5 more
doaj   +1 more source

Concurrent Alterations in TERT , KDM6A , and the BRCA Pathway in Bladder Cancer [PDF]

Clinical Cancer Research, 2014
Abstract Purpose: Genetic analysis of bladder cancer has revealed a number of frequently altered genes, including frequent alterations of the telomerase (TERT) gene promoter, although few altered genes have been functionally evaluated. Our objective is to characterize alterations observed by exome sequencing and sequencing of the TERT
Nickerson, Michael L., Dancik, Garrett M., Im, Kate M., Edwards, Michael G., Turan, Sevilay, Brown, Joseph, Ruiz-Rodriguez, Christina, Owens, Charles, Costello, James C., Guo, Guangwu, Tsang, Shirley X., Li, Yingrui, Zhou, Quan, Cai, Zhiming, Moore, Lee E., Lucia, M. Scott, Dean, Michael, Theodorescu, Dan   +17 more
openaire   +5 more sources