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RAF1 gene fusions as a possible driver mechanism in rare BAP1 - inactivated melanocytic tumors: a report of 2 cases
BRCA1-associated protein (BAP1)-inactivated melanocytic tumor (BIMT) is a group of epithelioid melanocytic neoplasms characterized by the loss of function of BAP1, a
Pathology
- 2020 •
- Jimp •
- Link
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Jimp - Článek v periodiku v databázi Web of Science
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BAP1-Inactivated Melanoma Arising From BAP1-Inactivated Melanocytic Tumor in a Patient With BAP1 Germline Mutation: A Case Report and Review of the Literature
BAP1-inactivated melanocytic tumors represent a subset of epithelioid melanocytic neoplasms resulting from biallelic inactivation of the BAP1 gene including cutaneous and uveal m...
Pathology
- 2023 •
- Jimp •
- Link
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Jimp - Článek v periodiku v databázi Web of Science
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Novel insights into the BAP1-inactivated melanocytic tumor
BAP1-inactivated melanocytic tumor (BIMT) is a group of melanocytic neoplasms and BAP1-inactivated melanocytes and squeezed remnants of the original nevus. Of the 26 there was a ...
Pathology
- 2022 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
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Novel insights into the BAP1-inactivated melanocytic tumor
BAP1-inactivated melanocytic tumor (BIMT) is a group of melanocytic neoplasms and BAP1-inactivated melanocytes and squeezed remnants of the original nevus. Of the 26 there was a ...
Pathology
- 2022 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
Nuclear deubiquitinase BAP1 (BRCA1-associated protein 1) is a core component of histone 2A (H2A). BAP1 is a tumor suppressor whose germline loss-of-function variants) or a tumor predispos...
Human genetics
- 2022 •
- Jimp •
- Link
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Jimp - Článek v periodiku v databázi Web of Science
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Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss
The BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene located on chromosome region 3p21. Mutations in BAP1 have been demonstrated to increase susceptibility to the development of uveal ...
Pathology
- 2017 •
- Jimp •
- Link
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Jimp - Článek v periodiku v databázi Web of Science
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MITF::CREM-rearranged tumor: a novel group of cutaneous tumors with melanocytic differentiation
Cutaneous tumors with melanocytic differentiation represent a broad group include MITF::CREM fusion-associated tumors, but the available data are limited. Immunohistochemically, the tumor...
Pathology
- 2023 •
- Jimp •
- Link
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Jimp - Článek v periodiku v databázi Web of Science
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Update on cutaneous mesenchymal tumors in the 5th edition of WHO classification of skin tumors with an emphasis on new fusion-associated neoplasms
The section on mesenchymal tumors in the 5th edition of WHO classification of skin tumors has undergone several changes, the most important of which is the inclusion of newly identified tumor entities, which will be the mai...
Pathology
- 2024 •
- Jimp •
- Link
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Jimp - Článek v periodiku v databázi Web of Science
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BAP1 Syndrome – Predisposition to Malignant Mesothelioma, Skin and Uveal Melanoma, Renal and Other Cancers
, and prostate tumors. The BAP1 gene (BRCA1-associated protein 1) is a tumor suppressor geneBackground: BAP1 syndrome is an autosomal dominant hereditary cancer syndrome associated
Oncology
- 2019 •
- JSC •
- Link
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JSC - Článek v periodiku v databázi SCOPUS
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BRCA1 and 53BP1 regulate reprogramming efficiency by mediating DNA repair pathway choice at replication-associated double-strand breaks
the functions of the BRCA1 tumor suppressor. Here, we leverage separation-of-function and its associated repair proteins to ascertain the relevance of homology-directed function through inactivation of 53...
Cell biology
- 2024 •
- Jimp •
- Link
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Jimp - Článek v periodiku v databázi Web of Science
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