Results 81 to 90 of about 15,084 (212)
Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Histopathology, Volume 88, Issue 7, Page 1295-1314, June 2026.Changes and new entities in the 6th edition WCT of the digestive system, including structural, molecular, and diagnostic updates to standardize terminology and improve clinical relevance. Epithelial tumours are organized by site; neuroendocrine, mesenchymal and haematolymphoid tumours have dedicated chapters, with refined grading, redefined ...
Mark J Arends +48 more
wiley +1 more source
Case Report: SMARCA4-deficient NSCLC with brain metastasis harboring co-mutations in chromatin remodeling and DNA damage repair pathways. [PDF]
Front OncolSMARCA4 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4) is the core ATPase subunit of SWI/SNF chromatin remodeling complexes.
Song J, Yang S, Xia L.
europepmc +2 more sources
The 2016 World Health Organization Classification of tumours of the Central Nervous System: what the paediatric neuroradiologist needs to know [PDF]
, 2016 The recently published 2016 World Health Organization (WHO) classification of tumours of the Central Nervous System (CNS) introduces a number of significant changes from the previous edition.
Carney, O +4 more
core +1 more source
, 2022 Abstract Background: Genomic studies have demonstrated a high frequency of genetic alterations in components of the SWI/SNF complex including the core subunit SMARCA4. However, the mechanisms of tumorigenesis driven by SMARCA4 mutations, particularly in colorectal cancer (CRC), remain largely unknown.
Xiangwei Zeng +19 more
openaire +1 more source
SMARCA4-deficient dedifferentiated endometrioid carcinoma
, 2022 Abstract Background SMARCA4-deficient, dedifferentiated endometrioid carcinoma （SDDEC）with distinct rhabdoid cells is a rare uterine malignancy. A 58-year-old case was presented.The undifferentiated carcinoma component was 90% and filled with rhabdoid cells, which is easily mistaken for SMARCA4-deficient undifferentiated uterine sarcoma (SDUS).
Ruihong Huang +5 more
openaire +1 more source
Histopathology, Volume 88, Issue 7, Page 1324-1347, June 2026.Diffuse large B‐cell lymphoma/high‐grade B‐cell lymphoma (DLBCL/HGBCL) is a mature aggressive B‐cell lymphoma. This article performed a comprehensive clinicopathological and transcriptomic analyses of this lymphoma category. Aims Diffuse large B‐cell lymphoma/high‐grade B‐cell lymphoma (DLBCL/HGBCL) with MYC and BCL2 rearrangements (double‐hit lymphoma
Masashi Miyaoka +21 more
wiley +1 more source
Discover OncologySMARCA4, one of the subunits of the switch/sucrose nonfermentable (SWI/SNF) chromatin-remodeling complex, plays a pivotal role in transcriptional regulation.
Liwen Wang +3 more
doaj +1 more source
The functional modulation of epigenetic regulators by alternative splicing [PDF]
, 2007 This article is available from: http://www.biomedcentral.com/1471-2164/8/252[Background] Epigenetic regulators (histone acetyltransferases, methyltransferases, chromatinremodelling enzymes, etc) play a fundamental role in the control of gene expression ...
Sergio Lois +3 more
core +2 more sources
Promotion of DFU Wound Healing via BRG1–COL16A1 Axis in Fibroblasts
Advanced Science, Volume 13, Issue 26, 8 May 2026.In normal wound healing, transcription factor BRG1 is upregulated and binds the COL16A1 promoter to enhance its expression, promoting fibroblast proliferation, migration, contraction, extracellular matrix deposition, and granulation tissue formation, thus accelerating wound closure.
Penghui Wang +10 more
wiley +1 more source