Results 51 to 60 of about 7,235 (159)
KDM6A is an epigenetic gatekeeper of mTORC1 signaling in cancer [PDF]
, 2020 Kdm6a is a histone H3K27-specific demethylase and a component of the highly conserved MLL3/4-COMPASS-like complex. Genomic sequencing studies of human tumor samples revealed frequent deletions and/or loss-of-function mutations of Kdm6a in various human cancer types, suggesting an important role in tumorigenesis. Yet, despite its frequent alterations in
openaire +1 more source
Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report
World Journal of Clinical Cases, 2021 Kabuki syndrome (KS) is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder. KMT2D and KDM6A mutations were identified as the main causative genes in KS patients. There are few case reports and genetic analyses, especially of KDM6A gene mutation, in China.This study reports a de novo KDM6A mutation in a Chinese ...
Guo, Hong-Xian +4 more
openaire +2 more sources
Archives of Medical Science, 2021 Introduction MiR-202-3p is involved in the pathogenesis of intervertebral disc degeneration (IDD) via regulating MMP-1 expression in neuronal precursor cells (NPCs).
Xin-Yao Hu, Dong-Zi Cao, Zhi-Hua Wang
doaj +1 more source
Cancer Medicine, Volume 15, Issue 7, July 2026.ABSTRACT Genomic sequencing has made precision oncology of pancreatic ductal adenocarcinoma (PDAC) feasible and is recommended by numerous clinical guidelines. The clinical significance of genomic alterations in PDAC remains to be revealed. This study was designed to bridge this gap by elucidating the clinical relevance of genomic profiling in a ...
Mingwei Dong +11 more
wiley +1 more source
Frontiers in Immunology, 2022 Myeloid-derived suppressor cells (MDSCs) prolong sepsis by promoting immunosuppression. We reported that sepsis MDSC development requires long non-coding RNA Hotairm1 interactions with S100A9.
Isatou Bah +4 more
doaj +1 more source
Cancer Reports, Volume 9, Issue 7, July 2026.ABSTRACT Background Accumulating evidence indicates a critical role of androgen receptor (AR) in the pathogenesis of male‐dominant urothelial cancer. Meanwhile, the functions of latrophilins (LPHNs), a subfamily of G protein‐coupled receptors, remain largely uncharacterized in neoplastic conditions.
Takuro Goto +6 more
wiley +1 more source
KDM6A Regulates Immune Response Genes in Multiple Myeloma
BloodAbstract The histone H3K27 demethylase KDM6A is a tumor suppressor in multiple cancers, including multiple myeloma (MM). We created isogenic MM cells disrupted for KDM6A and tagged the endogenous protein to facilitate genome wide studies.
Daphné Dupéré-Richer +18 more
openaire +3 more sources
A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
JCRPE, 2021 Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorder ...
Mina Mısırlıgil +5 more
doaj +1 more source
Multiple myeloma: A tale of deregulated transcription factors
HemaSphere, Volume 10, Issue 7, July 2026.Abstract A comprehensive understanding of the molecular mechanisms underlying multiple myeloma (MM) pathogenesis is essential for developing therapeutic strategies that overcome disease heterogeneity and treatment relapse. In this review, we focus on transcription factors (TFs), key regulators of gene expression that play critical roles in normal ...
Nahia Gómez‐Echarte +5 more
wiley +1 more source
Opposing effects of KDM6A and JDP2 on glucocorticoid sensitivity in T-ALL
Blood Advances, 2023 Abstract Glucocorticoids (GCs) are the cornerstone of acute lymphoblastic leukemia (ALL) therapy. Although mutations in NR3C1, which encodes the GC receptor (GR), and other genes involved in GC signaling occur at relapse, additional mechanisms of adaptive GC resistance are uncertain. We transplanted and treated 10 primary mouse T-lineage
Anya L. Levinson +8 more
openaire +4 more sources