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Year Number of Results
2012 3
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2014 3
2015 8
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2023 17
2024 6

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92 results

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Page 1
Identification of KANSL1 as a novel pathogenic gene for developmental dysplasia of the hip.
Xu X, Bi X, Wang J, Gui R, Li T, Li L, Wang B. Xu X, et al. J Mol Med (Berl). 2022 Aug;100(8):1159-1168. doi: 10.1007/s00109-022-02220-4. Epub 2022 Jun 21. J Mol Med (Berl). 2022. PMID: 35727364
In this study, we used whole exome sequencing to identify the causative gene of a DDH pedigree. A rare missense variant in KANSL1 (c.C767T; p.S256F) was identified as the pathogenic cause of DDH. ...Furthermore, functional studies showed that cell proliferation was …
In this study, we used whole exome sequencing to identify the causative gene of a DDH pedigree. A rare missense variant in KANSL1 …
Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice.
Li T, Lu D, Yao C, Li T, Dong H, Li Z, Xu G, Chen J, Zhang H, Yi X, Zhu H, Liu G, Wen K, Zhao H, Gao J, Zhang Y, Han Q, Li T, Zhang W, Zhao J, Li T, Bai Z, Song M, He X, Zhou T, Xia Q, Li A, Pan X. Li T, et al. Nat Commun. 2022 Feb 17;13(1):931. doi: 10.1038/s41467-022-28613-0. Nat Commun. 2022. PMID: 35177641 Free PMC article.
To date, no effective treatment has been found for KdVS, largely due to its unknown pathogenesis. Using siRNA screening, we identified KANSL1 as an essential gene for autophagy. Mechanistic study shows that KANSL1 modulates autophagosome-lysosome fusion for c …
To date, no effective treatment has been found for KdVS, largely due to its unknown pathogenesis. Using siRNA screening, we identified KA …
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
Moreno-Igoa M, Hernández-Charro B, Bengoa-Alonso A, Pérez-Juana-del-Casal A, Romero-Ibarra C, Nieva-Echebarria B, Ramos-Arroyo MA. Moreno-Igoa M, et al. BMC Med Genet. 2015 Aug 22;16:68. doi: 10.1186/s12881-015-0211-0. BMC Med Genet. 2015. PMID: 26293599 Free PMC article.
FISH analysis was conducted for chromosomal breakpoint localization. qRT-PCR was applied for the comparative gene expression of KANSL1 gene in the patient and a control group. ...KANSL1 gene expression studies and comparative clinical analysis o …
FISH analysis was conducted for chromosomal breakpoint localization. qRT-PCR was applied for the comparative gene expression of KA …
Analysis in epithelial ovarian cancer identifies KANSL1 as a biomarker and target gene for immune response and HDAC inhibition.
Fejzo MS, Chen HW, Anderson L, McDermott MS, Karlan B, Konecny GE, Slamon DJ. Fejzo MS, et al. Gynecol Oncol. 2021 Feb;160(2):539-546. doi: 10.1016/j.ygyno.2020.11.008. Epub 2020 Nov 20. Gynecol Oncol. 2021. PMID: 33229045
Genes were searched for roles in epigenetic modification, identifying KANSL1. ...KANSL1 may be a master gene altering immune-response gene expression at 6p21.3 and drive response to HDAC inhibitors. ...
Genes were searched for roles in epigenetic modification, identifying KANSL1. ...KANSL1 may be a master gene alt …
Functional regulatory variants implicate distinct transcriptional networks in dementia.
Cooper YA, Teyssier N, Dräger NM, Guo Q, Davis JE, Sattler SM, Yang Z, Patel A, Wu S, Kosuri S, Coppola G, Kampmann M, Geschwind DH. Cooper YA, et al. Science. 2022 Aug 19;377(6608):eabi8654. doi: 10.1126/science.abi8654. Epub 2022 Aug 19. Science. 2022. PMID: 35981026
We identified and validated multiple risk loci using CRISPR interference or excision, including complement 4 (C4A) and APOC1 in AD and PLEKHM1 and KANSL1 in PSP. Functional variants disrupt transcription factor binding sites converging on enhancers with cell type-specific …
We identified and validated multiple risk loci using CRISPR interference or excision, including complement 4 (C4A) and APOC1 in AD and PLEKH …
MDS/MPN-Unclassifiable with t(X;17)(q28;q21) and KANSL1-MTCP1/CMC4 Fusion Gene.
Molony P, Smith AC, Selvarajah S, Sakhdari A. Molony P, et al. Cytogenet Genome Res. 2021;161(12):564-568. doi: 10.1159/000521509. Epub 2022 Jan 17. Cytogenet Genome Res. 2021. PMID: 35038703 Free PMC article.
Here, for the first time, we report a case of MDS/MPN-U with a t(X;17)(q28;q21) chromosomal rearrangement leading to the KANSL1-MTCP1 fusion gene....
Here, for the first time, we report a case of MDS/MPN-U with a t(X;17)(q28;q21) chromosomal rearrangement leading to the KANSL1-MTCP1 …
The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism.
Chang S, Yim S, Park H. Chang S, et al. Exp Mol Med. 2019 Jun 20;51(6):1-17. doi: 10.1038/s12276-019-0230-6. Exp Mol Med. 2019. PMID: 31221981 Free PMC article. Review.
Of the 299 driver genes, 12 genes are involved in histones, histone methylation, and demethylation (Table 1). Among these 12 genes, those encoding the histone demethylases JARID1C/KDM5C and UTX/KDM6A were identified as cancer driver genes. ...
Of the 299 driver genes, 12 genes are involved in histones, histone methylation, and demethylation (Table 1). Among these 12 …
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Müller MF, Yépez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA; Undiagnosed Diseases Network; Lee B. Murdock DR, et al. J Clin Invest. 2021 Jan 4;131(1):e141500. doi: 10.1172/JCI141500. J Clin Invest. 2021. PMID: 33001864 Free PMC article. Clinical Trial.
Newly diagnosed conditions included Koolen-de Vries syndrome (KANSL1), Renpenning syndrome (PQBP1), TBCK-associated encephalopathy, NSD2- and CLTC-related intellectual disability, and others, all with negative conventional genomic testing, including ES and chromosomal micr …
Newly diagnosed conditions included Koolen-de Vries syndrome (KANSL1), Renpenning syndrome (PQBP1), TBCK-associated encephalopathy, N …
Novel KAT6B-KANSL1 fusion gene identified by RNA sequencing in retroperitoneal leiomyoma with t(10;17)(q22;q21).
Panagopoulos I, Gorunova L, Bjerkehagen B, Heim S. Panagopoulos I, et al. PLoS One. 2015 Jan 26;10(1):e0117010. doi: 10.1371/journal.pone.0117010. eCollection 2015. PLoS One. 2015. PMID: 25621995 Free PMC article.
Using RNA-Sequencing and the 'grep' command to search the fastq files of the sequence data we found that the translocation resulted in fusion of the genes KAT6B (10q22) with KANSL1 (17q21). RT-PCR together with direct (Sanger) sequencing verified the presence of a K …
Using RNA-Sequencing and the 'grep' command to search the fastq files of the sequence data we found that the translocation resulted in fusio …
MOF-mediated histone H4 Lysine 16 acetylation governs mitochondrial and ciliary functions by controlling gene promoters.
Wang D, Li H, Chandel NS, Dou Y, Yi R. Wang D, et al. Nat Commun. 2023 Jul 21;14(1):4404. doi: 10.1038/s41467-023-40108-0. Nat Commun. 2023. PMID: 37479688 Free PMC article.
MOF-regulated genes are highly enriched for essential functions in the mitochondria and cilia. ...Together, this study reveals the requirement of MOF-mediated epigenetic mechanism for regulating mitochondrial and ciliary gene expression and underscores the important …
MOF-regulated genes are highly enriched for essential functions in the mitochondria and cilia. ...Together, this study reveals the re …
92 results