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128 results

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ASH1L haploinsufficiency results in autistic-like phenotypes in mice and links Eph receptor gene to autism spectrum disorder.
Yan Y, Tian M, Li M, Zhou G, Chen Q, Xu M, Hu Y, Luo W, Guo X, Zhang C, Xie H, Wu QF, Xiong W, Liu S, Guan JS. Yan Y, et al. Neuron. 2022 Apr 6;110(7):1156-1172.e9. doi: 10.1016/j.neuron.2021.12.035. Epub 2022 Jan 25. Neuron. 2022. PMID: 35081333 Free article.
Specific depletion of Ash1l in forebrain induces similar ASD-associated behavioral defects. While the learning ability remains intact, the discrimination ability of Ash1l mutant mice is reduced. ...Dysregulation of synaptic genes is detected in Ash1l m …
Specific depletion of Ash1l in forebrain induces similar ASD-associated behavioral defects. While the learning ability remains intact …
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.
Cordova I, Blesson A, Savatt JM, Sveden A, Mahida S, Hazlett H, Rooney Riggs E, Chopra M; Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel. Cordova I, et al. Genes (Basel). 2024 Mar 28;15(4):423. doi: 10.3390/genes15040423. Genes (Basel). 2024. PMID: 38674358 Free PMC article. Review.
Here, we review previously published individuals with pathogenic ASH1L variants and report three further probands with novel ASH1L variants and previously unreported phenotypic features, including mixed receptive language disorder and gait disturbances. These novel …
Here, we review previously published individuals with pathogenic ASH1L variants and report three further probands with novel ASH1L …
Novel NUP98::ASH1L Gene Fusion in Acute Myeloid Leukemia Detected by Optical Genome Mapping.
Tembrink M, Gerding WM, Wieczorek S, Mika T, Schroers R, Nguyen HP, Vangala DB, Nilius-Eliliwi V. Tembrink M, et al. Cancers (Basel). 2023 May 27;15(11):2942. doi: 10.3390/cancers15112942. Cancers (Basel). 2023. PMID: 37296904 Free PMC article.
In this study, OGM was utilized as a tool for the detection of genome-wide structural variants and disease monitoring. A previously unrecognized NUP98::ASH1L fusion was detected in an adult patient with secondary AML. OGM identified the fusion of NUP98 to Absent, Small, or …
In this study, OGM was utilized as a tool for the detection of genome-wide structural variants and disease monitoring. A previously unrecogn …
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Stessman HA, et al. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191889 Free PMC article.
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, i …
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic gen …
Role of Ash1l in Tourette syndrome and other neurodevelopmental disorders.
Zhang C, Xu L, Zheng X, Liu S, Che F. Zhang C, et al. Dev Neurobiol. 2021 Mar;81(2):79-91. doi: 10.1002/dneu.22795. Epub 2020 Dec 14. Dev Neurobiol. 2021. PMID: 33258273 Free PMC article. Review.
Ash1l potentially contributes to neurodevelopmental diseases. Although specific Ash1l mutations are rare, they have led to informative studies in animal models that may bring therapeutic advances. ...Such findings highlight Ash1l pleiotropy and the necessity …
Ash1l potentially contributes to neurodevelopmental diseases. Although specific Ash1l mutations are rare, they have led to inf …
The ASH1L-AS1-ASH1L axis controls NME1-mediated activation of the RAS signaling in gastric cancer.
Xie M, Zhang L, Han L, Huang L, Huang Y, Yang M, Zhang N. Xie M, et al. Oncogene. 2023 Nov;42(46):3435-3445. doi: 10.1038/s41388-023-02855-8. Epub 2023 Oct 7. Oncogene. 2023. PMID: 37805663
In line with this, ASH1L and ASH1L-AS1 are functionally important in promoting GC disease progression. LncRNA ASH1L-AS1 up-regulates ASH1L transcription, increases histone methyltransferase ASH1L expression and elevates genome-wide H3K4me3 modif …
In line with this, ASH1L and ASH1L-AS1 are functionally important in promoting GC disease progression. LncRNA ASH1L-AS1 …
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg ZN, Peng Y, Bai T, Li H, Ke X, Hu Z, Zhao J, Zou X, Xia K, Eichler EE. Wang T, et al. Nat Commun. 2016 Nov 8;7:13316. doi: 10.1038/ncomms13316. Nat Commun. 2016. PMID: 27824329 Free PMC article.
Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. ...In aggregate, 4% of ASD patients carry a DN mutation in one of just 29 autism risk …
Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but ha …
Structure-function relationship of ASH1L and histone H3K36 and H3K4 methylation.
Vann KR, Sharma R, Hsu CC, Devoucoux M, Tencer AH, Zeng L, Lin K, Zhu L, Li Q, Lachance C, Ospina RR, Tong Q, Cheung KL, Yang S, Biswas S, Xuan H, Gatchalian J, Alamillo L, Wang J, Jang SM, Klein BJ, Lu Y, Ernst P, Strahl BD, Rothbart SB, Walsh MJ, Cleary ML, Côté J, Shi X, Zhou MM, Kutateladze TG. Vann KR, et al. Nat Commun. 2025 Mar 6;16(1):2235. doi: 10.1038/s41467-025-57556-5. Nat Commun. 2025. PMID: 40044670 Free PMC article.
We find that ASH1L(PHD) recognizes H3K4me2/3, whereas the neighboring ASH1L(BD) and ASH1L(BAH) have DNA binding activities. ...We show that ASH1L is involved in embryonic stem cell differentiation and co-localizes with H3K4me3 but not with H3K36me2 at …
We find that ASH1L(PHD) recognizes H3K4me2/3, whereas the neighboring ASH1L(BD) and ASH1L(BAH) have DNA binding activit …
The histone methyltransferase ASH1L protects against bone loss by inhibiting osteoclastogenesis.
Zhao X, Lin S, Ren H, Sun S, Zheng L, Chen LF, Wang Z. Zhao X, et al. Cell Death Differ. 2024 May;31(5):605-617. doi: 10.1038/s41418-024-01274-w. Epub 2024 Mar 2. Cell Death Differ. 2024. PMID: 38431690
So far, its physiological relevance in bone homeostasis and osteoclast differentiation remains elusive. Here, by conditional deleting Ash1l in osteoclast progenitors of mice, we found ASH1L deficiency resulted in osteoporosis and potentiation of osteoclastogenesis i …
So far, its physiological relevance in bone homeostasis and osteoclast differentiation remains elusive. Here, by conditional deleting Ash …
Ash1l loss-of-function results in structural birth defects and altered cortical development.
Toolan KP, McGrath BT, Brinkmeier ML, Camper SA, Bielas SL. Toolan KP, et al. Brain. 2025 Jan 7;148(1):55-68. doi: 10.1093/brain/awae218. Brain. 2025. PMID: 38943682
The histone methyltransferase ASH1L plays a crucial role in regulating gene expression across various organ systems during development, yet its role in brain development remains largely unexplored. ...This study underscores the essential role of Ash1l in post …
The histone methyltransferase ASH1L plays a crucial role in regulating gene expression across various organ systems during dev …
128 results