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2020 1
2021 41
2022 49
2023 33
2024 9

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115 results

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SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N. Pingault V, et al. J Med Genet. 2022 Feb;59(2):105-114. doi: 10.1136/jmedgenet-2021-108105. Epub 2021 Oct 19. J Med Genet. 2022. PMID: 34667088 Free PMC article. Review.
SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group box-containing (SOX) proteins, most of which contribute to cell type specification and differentiation of various lineages. The first clue that SOX10 is essential for developm …
SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group box-containing (SOX) proteins, most of whi …
Developmental chromatin programs determine oncogenic competence in melanoma.
Baggiolini A, Callahan SJ, Montal E, Weiss JM, Trieu T, Tagore MM, Tischfield SE, Walsh RM, Suresh S, Fan Y, Campbell NR, Perlee SC, Saurat N, Hunter MV, Simon-Vermot T, Huang TH, Ma Y, Hollmann T, Tickoo SK, Taylor BS, Khurana E, Koche RP, Studer L, White RM. Baggiolini A, et al. Science. 2021 Sep 3;373(6559):eabc1048. doi: 10.1126/science.abc1048. Epub 2021 Sep 3. Science. 2021. PMID: 34516843 Free PMC article.
Profiling reveals that progenitors have higher expression of chromatin-modifying enzymes such as ATAD2, a melanoma competence factor that forms a complex with SOX10 and allows for expression of downstream oncogenic and neural crest programs. ...
Profiling reveals that progenitors have higher expression of chromatin-modifying enzymes such as ATAD2, a melanoma competence factor that fo …
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Four additional genes contribute 2.5% each one (MITF, KCNQ4, EYA4, SOX10) and the remaining are residually represented. X-linked hearing loss and maternally-inherited NSHI have minor contributions in most countries. ...
Four additional genes contribute 2.5% each one (MITF, KCNQ4, EYA4, SOX10) and the remaining are residually represented. X-linked hear …
Targeting SOX10-deficient cells to reduce the dormant-invasive phenotype state in melanoma.
Capparelli C, Purwin TJ, Glasheen M, Caksa S, Tiago M, Wilski N, Pomante D, Rosenbaum S, Nguyen MQ, Cai W, Franco-Barraza J, Zheng R, Kumar G, Chervoneva I, Shimada A, Rebecca VW, Snook AE, Hookim K, Xu X, Cukierman E, Herlyn M, Aplin AE. Capparelli C, et al. Nat Commun. 2022 Mar 16;13(1):1381. doi: 10.1038/s41467-022-28801-y. Nat Commun. 2022. PMID: 35296667 Free PMC article.
We identify the class of cellular inhibitor of apoptosis protein-1/2 (cIAP1/2) inhibitors as inducing cell death selectively in SOX10-deficient cells. Targeted therapy selects for SOX10 knockout cells underscoring their drug tolerant properties. ...Furthermore, we p …
We identify the class of cellular inhibitor of apoptosis protein-1/2 (cIAP1/2) inhibitors as inducing cell death selectively in SOX10 …
Transcriptional Control of Peripheral Nerve Regeneration.
Zhang Y, Zhao Q, Chen Q, Xu L, Yi S. Zhang Y, et al. Mol Neurobiol. 2023 Jan;60(1):329-341. doi: 10.1007/s12035-022-03090-0. Epub 2022 Oct 20. Mol Neurobiol. 2023. PMID: 36261692 Review.
Hence, c-Jun and Sox2, two critical drivers for Schwann cell reprogramming, as well as Krox-20 and Sox10, two essential regulators of Schwann cell myelination, are reviewed. ...
Hence, c-Jun and Sox2, two critical drivers for Schwann cell reprogramming, as well as Krox-20 and Sox10, two essential regulators of …
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA, Ravindranathan A, Gupta R, Stevers NO, Suwala AK, Hong C, Kim S, Yuan JB, Wu J, Barreto J, Lucas CG, Chan E, Pekmezci M, LeBoit PE, Mully T, Perry A, Bollen A, Van Ziffle J, Devine WP, Reddy AT, Gupta N, Basnet KM, Macaulay RJB, Malafronte P, Lee H, Yong WH, Williams KJ, Juratli TA, Mata DA, Huang RSP, Hiemenz MC, Pavlick DC, Frampton GM, Janovitz T, Ross JS, Chang SM, Berger MS, Jacques L, Song JS, Costello JF, Solomon DA. Williams EA, et al. Neuro Oncol. 2023 Dec 8;25(12):2221-2236. doi: 10.1093/neuonc/noad121. Neuro Oncol. 2023. PMID: 37436963 Free PMC article.
Functional studies revealed these SOX10 indel mutations have retained DNA binding capacity but impaired transactivation of glial differentiation and myelination gene programs. CONCLUSIONS: We thus speculate that SOX10 indel mutations drive a unique subtype of schwan …
Functional studies revealed these SOX10 indel mutations have retained DNA binding capacity but impaired transactivation of glial diff …
SOX Genes and Their Role in Disorders of Sex Development.
Sreenivasan R, Gonen N, Sinclair A. Sreenivasan R, et al. Sex Dev. 2022;16(2-3):80-91. doi: 10.1159/000524453. Epub 2022 Jun 27. Sex Dev. 2022. PMID: 35760052 Free article. Review.
We then provide detailed information and discussion on SOX genes that have been implicated in DSDs, both at the gene and regulatory level. These include SRY, SOX9, SOX3, SOX8, and SOX10. This review provides insights on the crucial balance of SOX gene expression levels nee …
We then provide detailed information and discussion on SOX genes that have been implicated in DSDs, both at the gene and regulatory level. T …
Epigenome Programming by H3.3K27M Mutation Creates a Dependence of Pediatric Glioma on SMARCA4.
Mo Y, Duan S, Zhang X, Hua X, Zhou H, Wei HJ, Watanabe J, McQuillan N, Su Z, Gu W, Wu CC, Vakoc CR, Hashizume R, Chang K, Zhang Z. Mo Y, et al. Cancer Discov. 2022 Dec 2;12(12):2906-2929. doi: 10.1158/2159-8290.CD-21-1492. Cancer Discov. 2022. PMID: 36305747 Free PMC article.
Moreover, SMARCA4 chromatin binding is reduced upon depletion of SOX10 or H3.3K27M, a mutation occurring in about 60% DMG tumors. Furthermore, the SMARCA4 occupancy at enhancers marked by both SOX10 and H3K27 acetylation is reduced the most upon depleting the H3.3K2 …
Moreover, SMARCA4 chromatin binding is reduced upon depletion of SOX10 or H3.3K27M, a mutation occurring in about 60% DMG tumors. Fur …
Drivers and suppressors of triple-negative breast cancer.
Wu W, Warner M, Wang L, He WW, Zhao R, Guan X, Botero C, Huang B, Ion C, Coombes C, Gustafsson JA. Wu W, et al. Proc Natl Acad Sci U S A. 2021 Aug 17;118(33):e2104162118. doi: 10.1073/pnas.2104162118. Proc Natl Acad Sci U S A. 2021. PMID: 34389675 Free PMC article.
We found more than a fivefold elevation in mTNBC of genes already known to be expressed in TNBC: BIRC5/survivin, Wnt-10A and -7B, matrix metalloproteinases (MMPs), chemokines, anterior gradient proteins, and lysophosphatidic acid receptor and the known basal characteristics of TN …
We found more than a fivefold elevation in mTNBC of genes already known to be expressed in TNBC: BIRC5/survivin, Wnt-10A and -7B, matrix met …
115 results