SMARCA4-Associated Schwannomatosis
, 2022 Abstract Background Schwannomatosis is a disorder characterized by a predisposition to multiple benign spinal, peripheral and intracranial nerve sheath tumors (schwannomas (SWNs)). The molecular mechanism of schwannomatosis involves several genes located on chromosome 22q, SMARCB1, LZTR1, NF2 and more recently, DGCR8. Case Presentation: here,
Fiona Chan-Pak-Choon +11 more
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Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). [PDF]
, 2014 Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare, aggressive tumor that primarily affects young women. SCCOHT has recently been identified as a monogenic disorder caused by germline and/or somatic SMARCA4 mutations.
Bailey, Shivani +8 more
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BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation [PDF]
, 2017 Mutations in SOX10 cause neurocristopathies which display varying degrees of hypopigmentation. Using a sensitized mutagenesis screen, we identified Smarca4 as a modifier gene that exacerbates the phenotypic severity of Sox10 haplo-insufficient mice ...
Aras, S +12 more
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Journal of Investigative Medicine High Impact Case Reports, 2022 Among thoracic tumors, these include subsets of a relatively newly described and yet to be fully characterized tumor entity: SMARCA4-deficient Undifferentiated Tumor (SMARCA4-dUT). Mutations of SMARCA4 (SWI/SNF-related, matrix-associated, actin-dependent
Ruchi Yadav MD +5 more
doaj +1 more source
Improved Classification of Lung Cancer Using Radial Basis Function Neural Network with Affine Transforms of Voss Representation [PDF]
, 2015 Lung cancer is one of the diseases responsible for a large number of cancer related death cases worldwide. The recommended standard for screening and early detection of lung cancer is the low dose computed tomography.
Adetiba, E., Olugbara, O. O.
core +6 more sources
Exome-wide somatic mutation characterization of small bowel adenocarcinoma [PDF]
, 2018 Small bowel adenocarcinoma (SBA) is an aggressive disease with limited treatment options. Despite previous studies, its molecular genetic background has remained somewhat elusive.
A Laforest +77 more
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The Zebrafish equivalent of Alzheimer's disease-associated PRESENILIN Isoform PS2V regulates inflammatory and other responses to hypoxic stress [PDF]
, 2016 Dominant mutations in the PRESENILIN genes PSEN1 and PSEN2 cause familial Alzheimer's disease (fAD) that usually shows onset before 65 years of age. In contrast, genetic variation at the PSEN1 and PSEN2 loci does not appear to contribute to risk for the ...
Ebrahimie, E. +4 more
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ARID1B is a specific vulnerability in ARID1A-mutant cancers [PDF]
, 2014 Summary Recent studies have revealed that ARID1A is frequently mutated across a wide variety of human cancers and also has bona fide tumor suppressor properties.
A Klochendler-Yeivin +35 more
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Typing tumors using pathways selected by somatic evolution. [PDF]
, 2018 Many recent efforts to analyze cancer genomes involve aggregation of mutations within reference maps of molecular pathways and protein networks. Here, we find these pathway studies are impeded by molecular interactions that are functionally irrelevant to
Huang, Justin +6 more
core +3 more sources
MYC overexpression and SMARCA4 loss cooperate to drive medulloblastoma formation in mice
Acta Neuropathologica Communications, 2023 Group 3 medulloblastoma is one of the most aggressive types of childhood brain tumors. Roughly 30% of cases carry genetic alterations in MYC, SMARCA4, or both genes combined.
Carolin Göbel +7 more
doaj +1 more source