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167 results

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Page 1
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 mutant b …
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.
Pathogenic ASH1L variants have been reported in probands with broad phenotypic presentations, including intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, seizures, congenital anomalies, and other skeletal, muscular, and sleep diff …
Pathogenic ASH1L variants have been reported in probands with broad phenotypic presentations, including intellectual disability, auti …
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.
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. ...With the progress in functional genomic analysis (highlighted in t …
Ash1l potentially contributes to neurodevelopmental diseases. Although specific Ash1l mutations are rare, they have led to inf …
ASH1L in Hepatoma Cells and Hepatic Stellate Cells Promotes Fibrosis-Associated Hepatocellular Carcinoma by Modulating Tumor-Associated Macrophages.
Du Y, Wu S, Xi S, Xu W, Sun L, Yan J, Gao H, Wang Y, Zheng J, Wang F, Yang H, Xie D, Chen X, Ou X, Guan XY, Li Y. Du Y, et al. Adv Sci (Weinh). 2024 Dec;11(45):e2404756. doi: 10.1002/advs.202404756. Epub 2024 Oct 8. Adv Sci (Weinh). 2024. PMID: 39377228 Free PMC article.
To determine the role of ASH1L in vivo, transgenic mice with conditional Ash1l depletion in the hepatocyte cell lineage (Ash1l(flox/flox)Alb(cre)) or HSCs (Ash1l(flox/flox)GFAP(creERT2)) are generated, and these mice are challenged in a diethylnitrosam …
To determine the role of ASH1L in vivo, transgenic mice with conditional Ash1l depletion in the hepatocyte cell lineage (As …
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 …
ASH1L contributes to oocyte apoptosis by regulating DNA damage.
Zhang T, Ren T, Lin H, Tong Y, Zhang J, Nie J, Zhu Y, Wang Y, Jin B, Zhang C, Chen T, He M. Zhang T, et al. Am J Physiol Cell Physiol. 2022 Oct 1;323(4):C1264-C1273. doi: 10.1152/ajpcell.00196.2022. Epub 2022 Sep 12. Am J Physiol Cell Physiol. 2022. PMID: 36094439 Free PMC article.
Overexpression of Ash1l also led to a deficiency in DNA double-strand break repair associated with premature upregulation of p63 and phosphorylated checkpoint kinase 2 (p-CHK2), the major genome guardian of the female germline, following Ash1l overexpression in feta …
Overexpression of Ash1l also led to a deficiency in DNA double-strand break repair associated with premature upregulation of p63 and …
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
Our investigation evaluated the impact of Ash1l loss-of-function on survival and craniofacial skeletal development. Using a tamoxifen-inducible cre strain, we targeted Ash1l knockout early in cortical development [Emx1-Cre-ERT2; embryonic Day (e) 10.5]. ...This stud …
Our investigation evaluated the impact of Ash1l loss-of-function on survival and craniofacial skeletal development. Using a tamoxifen …
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 Free PMC article.
Absent, small, or homeotic1-like (ASH1L) is a histone lysine methyltransferase that generally functions as a transcriptional activator in controlling cell fate. So far, its physiological relevance in bone homeostasis and osteoclast differentiation remains elusive. Here, by …
Absent, small, or homeotic1-like (ASH1L) is a histone lysine methyltransferase that generally functions as a transcriptional activato …
ASH1L mutation caused seizures and intellectual disability in twin sisters.
Liu H, Liu DT, Lan S, Yang Y, Huang J, Huang J, Fang L. Liu H, et al. J Clin Neurosci. 2021 Sep;91:69-74. doi: 10.1016/j.jocn.2021.06.038. Epub 2021 Jul 1. J Clin Neurosci. 2021. PMID: 34373061
ASH1L mutations have been identified with variable phenotypes, including intellectual disability, autism spectrum disorder (ASD), and multiple congenital anomalies (MCA). ...Whole-exome sequencing of the family revealed a novel de novo heterozygous sequence variant, NM_018 …
ASH1L mutations have been identified with variable phenotypes, including intellectual disability, autism spectrum disorder (ASD), and …
Effect of ASH1L on neurodevelopment.
Bakoyiannis I. Bakoyiannis I. Lab Anim (NY). 2022 Mar;51(3):77. doi: 10.1038/s41684-022-00937-w. Lab Anim (NY). 2022. PMID: 35241855 No abstract available.
167 results