| ERalpha status of invasive ductal breast carcinoma as a result of regulatory interactions between lysine deacetylases KAT6A and KAT6B. | ERα status of invasive ductal breast carcinoma as a result of regulatory interactions between lysine deacetylases KAT6A and KAT6B.
Olbromski M, Mrozowska M, Smolarz B, Romanowicz H, Rusak A, Piotrowska A., Free PMC Article | 11/8/2024 |
| Clinical heterogeneity of polish patients with KAT6B-related disorder. | Clinical heterogeneity of polish patients with KAT6B-related disorder.
Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R., Free PMC Article | 12/22/2023 |
| Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy. | Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy.
Sun X, Luo X, Lin L, Wang S, Wang C, Yuan F, Lan X, Yan J, Chen Y., Free PMC Article | 09/27/2023 |
| Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson. | Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson.
Miller SA, Solari AP, Alberto G, Benitez Medina AC, García Ayré BM, Parisini D, Claps A, Taboas M. | 09/13/2023 |
| MORF and MOZ acetyltransferases target unmethylated CpG islands through the winged helix domain. | MORF and MOZ acetyltransferases target unmethylated CpG islands through the winged helix domain.
Becht DC, Klein BJ, Kanai A, Jang SM, Cox KL, Zhou BR, Phanor SK, Zhang Y, Chen RW, Ebmeier CC, Lachance C, Galloy M, Fradet-Turcotte A, Bulyk ML, Bai Y, Poirier MG, Côté J, Yokoyama A, Kutateladze TG., Free PMC Article | 02/13/2023 |
| XBP1-elicited environment by chemotherapy potentiates repopulation of tongue cancer cells by enhancing miR-22/lncRNA/KAT6B-dependent NF-kappaB signalling. | XBP1-elicited environment by chemotherapy potentiates repopulation of tongue cancer cells by enhancing miR-22/lncRNA/KAT6B-dependent NF-κB signalling.
Jia X, Wang G, Wu L, Pan H, Ling L, Zhang J, Wen Q, Cui J, He Z, Qi B, Zhang S, Luo L, Zheng G., Free PMC Article | 01/21/2023 |
| Recurrent KAT6B/A::KANSL1 Fusions Characterize a Potentially Aggressive Uterine Sarcoma Morphologically Overlapping With Low-grade Endometrial Stromal Sarcoma. | Recurrent KAT6B/A::KANSL1 Fusions Characterize a Potentially Aggressive Uterine Sarcoma Morphologically Overlapping With Low-grade Endometrial Stromal Sarcoma.
Agaimy A, Clarke BA, Kolin DL, Lee CH, Lee JC, McCluggage WG, Pöschke P, Stoehr R, Swanson D, Turashvili G, Beckmann MW, Hartmann A, Antonescu CR, Dickson BC., Free PMC Article | 08/27/2022 |
| Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. | Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA., Free PMC Article | 05/21/2022 |
| Low Expression of KAT6B May Affect Prognosis in Hepatocellular Carcinoma. | Low Expression of KAT6B May Affect Prognosis in Hepatocellular Carcinoma.
Jiang J, Wang HJ, Mou XZ, Zhang H, Chen Y, Hu ZM., Free PMC Article | 01/29/2022 |
| High methylation of lysine acetyltransferase 6B is associated with the Cobb angle in patients with congenital scoliosis. | High methylation of lysine acetyltransferase 6B is associated with the Cobb angle in patients with congenital scoliosis.
Wu Y, Zhang H, Tang M, Guo C, Deng A, Li J, Wang Y, Xiao L, Yang G., Free PMC Article | 06/19/2021 |
| CircKIAA0907 Retards Cell Growth, Cell Cycle, and Autophagy of Gastric Cancer In Vitro and Inhibits Tumorigenesis In Vivo via the miR-452-5p/KAT6B Axis. | CircKIAA0907 Retards Cell Growth, Cell Cycle, and Autophagy of Gastric Cancer In Vitro and Inhibits Tumorigenesis In Vivo via the miR-452-5p/KAT6B Axis.
Zhu L, Wang C, Lin S, Zong L., Free PMC Article | 05/15/2021 |
| Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. | Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM., Free PMC Article | 05/8/2021 |
| Novel Approach of Mandibular Distraction to Avoid Tracheostomy in KAT6B-related Gene Disorders. | Novel Approach of Mandibular Distraction to Avoid Tracheostomy in KAT6B-related Gene Disorders.
Bacos J, Maduekwe U, Janes L, Gosain AK. | 04/13/2021 |
| A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome. | A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.
Mendez R, Delea M, Dain L, Rittler M. | 04/18/2020 |
| The clinical and genetic characterization of these patients could contribute to the understanding of the KAT6B-related disorders. | Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.
Brea-Fernández A, Dacruz D, Eirís J, Barros F, Carracedo Á. | 02/8/2020 |
| Data indicate that the acetyltransferase function of the catalytic histone acetyltransferase KAT6B (MORF) subunit is positively regulated by the DPF domain of MORF (MORFDPF). | Histone H3K23-specific acetylation by MORF is coupled to H3K14 acylation.
Klein BJ, Jang SM, Lachance C, Mi W, Lyu J, Sakuraba S, Krajewski K, Wang WW, Sidoli S, Liu J, Zhang Y, Wang X, Warfield BM, Kueh AJ, Voss AK, Thomas T, Garcia BA, Liu WR, Strahl BD, Kono H, Li W, Shi X, Côté J, Kutateladze TG., Free PMC Article | 01/25/2020 |
| The present report highlights the pivotal role of clinical genetics in avoiding clear-cut genotype-phenotype categories in syndromic forms of intellectual disability. In addition, it further supports the evidence that a continuum exists within the clinical spectrum of KAT6B-associated disorders | A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
Marangi G, Di Giacomo MC, Lattante S, Orteschi D, Patrizi S, Doronzio PN, Riviello FN, Vaisfeld A, Frangella S, Zollino M. | 01/12/2019 |
| KAT6B mutation is associated with Craniosynostosis. | Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.
Bashir RA, Dixit A, Goedhart C, Parboosingh JS, Innes AM, Care for Rare Canada Consortium, Ferreira P, Hasan SU, Au PB. | 02/10/2018 |
| chronic inflammation compromises unfolded protein response function through MORF-mediated-PERK transcription. | Decreased MORF leads to prolonged endoplasmic reticulum stress in periodontitis-associated chronic inflammation.
Xue P, Li B, An Y, Sun J, He X, Hou R, Dong G, Fei D, Jin F, Wang Q, Jin Y., Free PMC Article | 12/16/2017 |
| With ptosis, hypotonia, and developmental delay as the main diagnostic features of our patient, the effect of histone acetyltransferase-encoding KAT6B gene haploinsufficiency was suspected to have a significant role in determining the phenotype. | Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.
Preiksaitiene E, Tumienė B, Maldžienė Ž, Pranckevičienė E, Morkūnienė A, Utkus A, Kučinskas V. | 12/2/2017 |
| Study identified the double plant homeodomain finger (DPF) of the lysine acetyltransferase MORF as a reader of global histone H3K14 acylation. | Recognition of Histone H3K14 Acylation by MORF.
Klein BJ, Simithy J, Wang X, Ahn J, Andrews FH, Zhang Y, Côté J, Shi X, Garcia BA, Kutateladze TG., Free PMC Article | 10/21/2017 |
| Our findings support that phenotypes associated with typical KAT6B disease-causing variants should be referred to as 'KAT6B spectrum disorders' or 'KAT6B related disorders', rather than their current SBBYSS and GTPTS classification | Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T. | 07/1/2017 |
| Studies show that misregulation of MOZ/MORF results in tumorigenesis and developmental disorders. Results also provide evidence that these 2 proteins play important role in regulating cell proliferation and stem cell maintenance. [review] | Regulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human Disease.
Huang F, Abmayr SM, Workman JL., Free PMC Article | 05/20/2017 |
| Kat6 c.3147G>A splice site mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. | A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.
Yilmaz R, Beleza-Meireles A, Price S, Oliveira R, Kubisch C, Clayton-Smith J, Szakszon K, Borck G. | 10/22/2016 |
| KAT6B sequence variants are being reported in the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome. | Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF, DDD study, Smith J, Clayton-Smith J., Free PMC Article | 05/28/2016 |