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   Articles with "bap1" as a keyword



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Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.

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recommendations! Published in 2021 at "Molecular oncology"

DOI: 10.1002/1878-0261.13128

Abstract: Uveal melanoma (UM) is the most common intraocular tumor in adults. Recurrent mutations in BRCA1-associated protein 1 (BAP1) and splicing factor 3B subunit 1 (SF3B1) display a mutually exclusive pattern in UM, but the underlying… read more here.

Keywords: melanoma; sf3b1; bap1; senescence ... See more keywords
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Analysis of early pleural fluid samples in patients with mesothelioma: A case series exploration of morphology, BAP1, and CDKN2A status with implications for the concept of mesothelioma in situ in cytology

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recommendations! Published in 2022 at "Cancer Cytopathology"

DOI: 10.1002/cncy.22548

Abstract: The concept of mesothelioma in situ has been revisited and is a new World Health Organization diagnostic entity. The definition centers on ancillary techniques used in pleural mesothelioma (PM) assessment. At the authors' institution, most… read more here.

Keywords: concept mesothelioma; bap1; mesothelioma; mesothelioma situ ... See more keywords
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Germline large deletion of BAP1 and decreased expression in non‐tumor choroid in uveal melanoma patients with high risk for inherited cancer

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recommendations! Published in 2019 at "Genes"

DOI: 10.1002/gcc.22752

Abstract: Uveal melanoma (UM) is the most common phenotype in patients with germline BAP1 mutation. This study aimed to identify selection criteria for BAP1 germline testing and assessed the role of large deletion/duplication and epigenetic inactivation.… read more here.

Keywords: bap1; large deletion; uveal melanoma; deletion ... See more keywords
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Modulation of Schwann cell homeostasis by the BAP1 deubiquitinase

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recommendations! Published in 2023 at "Glia"

DOI: 10.1002/glia.24351

Abstract: Schwann cell programming during myelination involves transcriptional networks that activate gene expression but also repress genes that are active in neural crest/embryonic differentiation of Schwann cells. We previously found that a Schwann cell‐specific deletion of… read more here.

Keywords: bap1; schwann; injury; schwann cell ... See more keywords
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Intrahepatic cholangiocarcinoma development in a patient with a novel BAP1 germline mutation and low exposure to asbestos.

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recommendations! Published in 2020 at "Cancer genetics"

DOI: 10.1016/j.cancergen.2020.10.001

Abstract: BRCA1 associated protein-1 (BAP1) germline mutations define a novel hereditary cancer syndrome, namely BAP1 tumor predisposition syndrome (BAP1-TPDS), characterized by an increased susceptibility to develop different cancer types, including mesothelioma, uveal and cutaneous melanoma, renal… read more here.

Keywords: bap1; exposure; bap1 germline; cancer ... See more keywords
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Highly expressed EZH2 in combination with BAP1 and MTAP loss, as detected by immunohistochemistry, is useful for differentiating malignant pleural mesothelioma from reactive mesothelial hyperplasia.

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recommendations! Published in 2019 at "Lung cancer"

DOI: 10.1016/j.lungcan.2019.02.004

Abstract: OBJECTIVE Malignant pleural mesothelioma (MPM) is an aggressive neoplasm with poor prognosis. Loss of BRCA-associated protein 1 (BAP1) protein expression as detected by immunohistochemistry (IHC) and homozygous deletion (HD) of the 9p21 locus as detected… read more here.

Keywords: mpm; bap1 mtap; combination bap1; bap1 ... See more keywords
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BAP1 enhances Polycomb repression by counteracting widespread H2AK119ub1 deposition and chromatin condensation

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recommendations! Published in 2021 at "Molecular Cell"

DOI: 10.1016/j.molcel.2021.06.020

Abstract: Summary BAP1 is mutated or deleted in many cancer types, including mesothelioma, uveal melanoma, and cholangiocarcinoma. It is the catalytic subunit of the PR-DUB complex, which removes PRC1-mediated H2AK119ub1, essential for maintaining transcriptional repression. However,… read more here.

Keywords: h2ak119ub1; bap1; repression; bap1 enhances ... See more keywords

Germline BAP1 mutations also predispose to cutaneous squamous cell carcinoma.

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recommendations! Published in 2017 at "Pathology"

DOI: 10.1016/j.pathol.2017.03.005

Abstract: Sir, We report the first cases of cutaneous squamous cell carcinoma in situ (SCC IS) and invasive squamous cell carcinoma (SCC) with BRCA1-associated protein-1 (BAP1) loss/inactivation in a patient known to have a BAP1 germline… read more here.

Keywords: carcinoma; cell carcinoma; squamous cell; bap1 ... See more keywords
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Probing the Tumor Suppressor Function of BAP1 in CRISPR-Engineered Human Liver Organoids.

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recommendations! Published in 2019 at "Cell stem cell"

DOI: 10.1016/j.stem.2019.04.017

Abstract: The deubiquitinating enzyme BAP1 is a tumor suppressor, among others involved in cholangiocarcinoma. BAP1 has many proposed molecular targets, while its Drosophila homolog is known to deubiquitinate histone H2AK119. We introduce BAP1 loss-of-function by CRISPR/Cas9… read more here.

Keywords: function; bap1; tumor suppressor; human liver ... See more keywords
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Giant Pediatric Rhabdoid Meningioma Associated with a Germline BAP1 Pathogenic Variation: A Rare Clinical Case.

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recommendations! Published in 2018 at "World neurosurgery"

DOI: 10.1016/j.wneu.2018.06.227

Abstract: BACKGROUND Rhabdoid meningiomas are rare World Health Organization grade 3 tumors that tend to follow an aggressive course, with an increased likelihood for local recurrence, remote metastasis, and cerebrospinal fluid dissemination. Genetic testing has found… read more here.

Keywords: grade; bap1; rhabdoid; rhabdoid meningioma ... See more keywords
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Germline BAP1 mutations induce a Warburg effect

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recommendations! Published in 2017 at "Cell Death and Differentiation"

DOI: 10.1038/cdd.2017.95

Abstract: Carriers of heterozygous germline BAP1 mutations (BAP1+/−) develop cancer. We studied plasma from 16 BAP1+/− individuals from 2 families carrying different germline BAP1 mutations and 30 BAP1 wild-type (BAP1WT) controls from these same families. Plasma… read more here.

Keywords: warburg effect; bap1; germline bap1; bap1 mutations ... See more keywords