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Did you mean secap (10 results)?
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
Here, we present a cohort of 33 individuals with clinical features distinct from FLHS and truncating (mostly de novo) SRCAP variants either proximal (n = 28) or distal (n = 5) to the FLHS locus. Detailed clinical characterization of the proximal SRCAP individuals id …
Here, we present a cohort of 33 individuals with clinical features distinct from FLHS and truncating (mostly de novo) SRCAP variants …
SRCAP mutations drive clonal hematopoiesis through epigenetic and DNA repair dysregulation.
Chen CW, Zhang L, Dutta R, Niroula A, Miller PG, Gibson CJ, Bick AG, Reyes JM, Lee YT, Tovy A, Gu T, Waldvogel S, Chen YH, Venters BJ, Estève PO, Pradhan S, Keogh MC, Natarajan P, Takahashi K, Sperling AS, Goodell MA. Chen CW, et al. Cell Stem Cell. 2023 Nov 2;30(11):1503-1519.e8. doi: 10.1016/j.stem.2023.09.011. Epub 2023 Oct 19. Cell Stem Cell. 2023. PMID: 37863054 Free PMC article.
Here, we describe the context and mechanisms that lead to enrichment of hematopoietic stem cells (HSCs) with mutations in SRCAP, which encodes a chromatin remodeler that also influences DNA repair. We show that SRCAP mutations confer a selective advantage in human c …
Here, we describe the context and mechanisms that lead to enrichment of hematopoietic stem cells (HSCs) with mutations in SRCAP, whic …
SRCAP-Related Floating-Harbor Syndrome.
Nowaczyk MJM, Nikkel SM, White SM. Nowaczyk MJM, et al. 2012 Nov 29 [updated 2025 Apr 10]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2012 Nov 29 [updated 2025 Apr 10]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 23193612 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis is established in a proband with suggestive findings and a heterozygous SRCAP pathogenic variant identified by molecular genetic testing. MANAGEMENT: Treatment of manifestations: Referral to an endocrinologist for consideration of human gro …
DIAGNOSIS/TESTING: The diagnosis is established in a proband with suggestive findings and a heterozygous SRCAP pathogenic variant ide …
SRCAP complex promotes lung cancer progression by reprograming the oncogenic transcription of Hippo-YAP/TAZ signaling pathway.
Zhang H, Li S, Zhou R, Dong T, Zhang X, Yu M, Lin J, Shi M, Geng E, Li J, Wang M, Huang L, Yang XP, Sun S. Zhang H, et al. Cancer Lett. 2024 Mar 31;585:216667. doi: 10.1016/j.canlet.2024.216667. Epub 2024 Jan 26. Cancer Lett. 2024. PMID: 38280479
CUT&Tag analysis revealed that SRCAP complex facilitates the deposition of histone variant H2A.Z at target promoters. ...Additionally, the blockade of SRCAP complex suppressed YAP-driven tumor growth. In a genetically engineered lung adenocarcinoma mouse model a …
CUT&Tag analysis revealed that SRCAP complex facilitates the deposition of histone variant H2A.Z at target promoters. ...Addition …
SRCAP mutations drive clonal hematopoiesis through epigenetic and DNA repair dysregulation.
Chen CW, Zhang L, Dutta R, Niroula A, Miller PG, Gibson CJ, Bick AG, Reyes JM, Lee YT, Tovy A, Gu T, Waldvogel S, Chen YH, Venters BJ, Estève PO, Pradhan S, Keogh MC, Natarajan P, Takahashi K, Sperling AS, Goodell MA. Chen CW, et al. Cell Stem Cell. 2024 Feb 1;31(2):275-277. doi: 10.1016/j.stem.2024.01.001. Cell Stem Cell. 2024. PMID: 38306995 Free PMC article. No abstract available.
Srcap haploinsufficiency induced autistic-like behaviors in mice through disruption of Satb2 expression.
Ding C, Zhou W, Shi Y, Shan S, Yuan Y, Zhang Y, Li F, Qiu Z. Ding C, et al. Cell Rep. 2024 May 28;43(5):114231. doi: 10.1016/j.celrep.2024.114231. Epub 2024 May 10. Cell Rep. 2024. PMID: 38733588 Free article.
Mutations in the SRCAP gene are among the genetic alterations identified in autism spectrum disorders (ASD). ...Through RNA sequencing, we identify dysregulation in 27 ASD-related genes in Srcap(+/-) mice. Specifically, we find that Srcap regulates expression …
Mutations in the SRCAP gene are among the genetic alterations identified in autism spectrum disorders (ASD). ...Through RNA sequencin …
Cancer-related SRCAP and TPR mutations in colon cancers.
Moon SW, Mo HY, Choi EJ, Yoo NJ, Lee SH. Moon SW, et al. Pathol Res Pract. 2021 Jan;217:153292. doi: 10.1016/j.prp.2020.153292. Epub 2020 Nov 23. Pathol Res Pract. 2021. PMID: 33307343

However, there was no such mutations in MSS cancers (P < 0.001). 18.8 % and 6.3 % of 16 CCs showed the regional difference in the SRCAP and TPR mutations, respectively. Approximately in 60 % of the CCs, SRCAP expression was increased compared to normal colon cell

…

However, there was no such mutations in MSS cancers (P < 0.001). 18.8 % and 6.3 % of 16 CCs showed the regional difference in the SRCA

…
When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.
Messina G, Atterrato MT, Dimitri P. Messina G, et al. J Med Genet. 2016 Dec;53(12):793-797. doi: 10.1136/jmedgenet-2016-103842. Epub 2016 Apr 26. J Med Genet. 2016. PMID: 27208210 Review.
FHS was first described at Boston's Floating Hospital 42 years ago, but the causative gene, called Srcap, was identified only recently. Truncated SRCAP protein variants have been implicated in the mechanism of FHS, but the molecular bases underlying the disease must …
FHS was first described at Boston's Floating Hospital 42 years ago, but the causative gene, called Srcap, was identified only recentl …
The SRCAP chromatin remodeling complex promotes oxidative metabolism during prenatal heart development.
Xu M, Yao J, Shi Y, Yi H, Zhao W, Lin X, Yang Z. Xu M, et al. Development. 2021 Apr 15;148(8):dev199026. doi: 10.1242/dev.199026. Epub 2021 Apr 16. Development. 2021. PMID: 33913477
Furthermore, we found that the SRCAP complex functioned through H2A.Z deposition to activate transcription of metabolic genes. These findings have unveiled the important physiological functions of the SRCAP complex in regulating mitochondrial maturation and promotin …
Furthermore, we found that the SRCAP complex functioned through H2A.Z deposition to activate transcription of metabolic genes. These …
SRCAP is involved in porcine reproductive and respiratory syndrome virus activated Notch signaling pathway.
Ding G, Li Y, Li D, Dou M, Fu C, Chen T, Cui X, Zhang Q, Yang P, Hou Y, Liu S, Xiao Y. Ding G, et al. J Virol. 2024 Dec 17;98(12):e0121624. doi: 10.1128/jvi.01216-24. Epub 2024 Nov 12. J Virol. 2024. PMID: 39530666 Free PMC article.
We used label-free quantitative proteomics to elucidate the Nsp4 interactome and SRCAP was identified as one of the interactors. SRCAP facilitated PRRSV infection by activating non-canonical Notch signaling. ...IMPORTANCE: In the present study, the interactome of th …
We used label-free quantitative proteomics to elucidate the Nsp4 interactome and SRCAP was identified as one of the interactors. S …
219 results