| Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. | Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
Schirwani S, Woods E, Koolen DA, Ockeloen CW, Lynch SA, Kavanagh K, Graham JM Jr, Grand K, Pierson TM, Chung JM, Balasubramanian M., Free PMC Article | 01/11/2023 |
| Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. | Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, Reid E, Blanchet P, Foulds N, Dixit A, Fisher R, Armstrong R, Isidor B, Cogne B, Schrier Vergano S, Demirdas S, Dykzeul N, Cohen JS, Grand K, Morel D, Slavotinek A, Albassam HF, Naik S, Dean J, Ragge N, Costa C, Tedesco MG, Harrison RE, Bouman A, Palen E, Challman TD, Willemsen MH, Vogt J, Cunniff C, Bergstrom K, Walia JS, Bruel AL, Kini U, Alkuraya FS, Slegesky V, Meeks N, Girotto P, Johnson D, DDD Study, Newbury-Ecob R, Ockeloen CW, Prontera P, Lynch SA, Li D, Graham JM Jr, Pierson TM, Balasubramanian M. | 02/19/2022 |
| Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. | Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Cuddapah VA, Dubbs HA, Adang L, Kugler SL, McCormick EM, Zolkipli-Cunningham Z, Ortiz-González XR, McCormack S, Zackai E, Licht DJ, Falk MJ, Marsh ED., Free PMC Article | 09/4/2021 |
| ASXL3 bridges BRD4 to BAP1 complex and governs enhancer activity in small cell lung cancer. | ASXL3 bridges BRD4 to BAP1 complex and governs enhancer activity in small cell lung cancer.
Szczepanski AP, Zhao Z, Sosnowski T, Goo YA, Bartom ET, Wang L., Free PMC Article | 08/7/2021 |
| Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions. | Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.
Yu KP, Luk HM, Fung JLF, Chung BH, Lo IF. | 06/12/2021 |
| Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease. | Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease.
Fu F, Li R, Lei TY, Wang D, Yang X, Han J, Pan M, Zhen L, Li J, Li FT, Jing XY, Li DZ, Liao C. | 02/20/2021 |
| Mosaicism in ASXL3-related syndrome: Description of five patients from three families. | Mosaicism in ASXL3-related syndrome: Description of five patients from three families.
Schirwani S, Hauser N, Platt A, Punj S, Prescott K, Canham N, Study DDD, Mansour S, Balasubramanian M. | 01/2/2021 |
| Truncating de novo mutations in ASXL3 cause Bainbridge-Ropers syndrome (BRPS), a developmental disorder with similarities to Bohring-Opitz syndrome. to our knowledge, this is the first report of the disorder in two related individuals. Our findings lend further support to intellectual disability, absent speech, autistic traits, hypotonia, and distinctive facial appearance as common emerging features of Bainbridge-Ropers f | A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P., Free PMC Article | 04/27/2019 |
| Somatic mutations in AZXL3 were associated with sporadic parathyroid adenomas in a Chinese population. | Whole-Exome Sequencing Identifies Novel Recurrent Somatic Mutations in Sporadic Parathyroid Adenomas.
Wei Z, Sun B, Wang ZP, He JW, Fu WZ, Fan YB, Zhang ZL. | 03/2/2019 |
| A second mutation cluster region within ASXL3 in older patients with Bainbridge-Ropers syndrome expands the phenotypic spectrum of the disorder and highlights its high frequency. | Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S. | 04/7/2018 |
| Data indicate that ASXL3 was markedly upregulated in lung iPSCs (Lu-iPSC) and small cell lung cancer (SCLC) lines and clinical specimens. | ASXL3 Is a Novel Pluripotency Factor in Human Respiratory Epithelial Cells and a Potential Therapeutic Target in Small Cell Lung Cancer.
Shukla V, Rao M, Zhang H, Beers J, Wangsa D, Wangsa D, Buishand FO, Wang Y, Yu Z, Stevenson HS, Reardon ES, McLoughlin KC, Kaufman AS, Payabyab EC, Hong JA, Zhang M, Davis S, Edelman D, Chen G, Miettinen MM, Restifo NP, Ried T, Meltzer PA, Schrump DS., Free PMC Article | 12/16/2017 |
| Our findings suggest that the expression of the truncated ASXL3 protein, including ASXN and ASXH domains, give rise to Bainbridge-Ropers syndrome , which is distinct from but overlaps with Bohring-Opitz syndrome | Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. | 10/28/2017 |
| data suggest that ASXL3 is another corepressor of LXRalpha, promoting to the regulation of lipid homeostasis | Repression of LXRα by a novel member of additional sex comb-like family, ASXL3.
Shin N, Lee YK, Park UH, Jeong JC, Um SJ. | 09/30/2017 |
| Loss-of-function variants in ASXL3 identified as causal for Bainbridge-Ropers syndrome. | Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D., Free PMC Article | 07/8/2017 |
| De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. | De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM, Bielas SL., Free PMC Article | 12/17/2016 |
| in contrast with ASXL1 and ASXL2 mutations, ASXL3 mutations were rare events within t(8;21)-AML patients. | Unlike ASXL1 and ASXL2 mutations, ASXL3 mutations are rare events in acute myeloid leukemia with t(8;21).
Duployez N, Micol JB, Boissel N, Petit A, Geffroy S, Bucci M, Lapillonne H, Renneville A, Leverger G, Ifrah N, Dombret H, Abdel-Wahab O, Jourdan E, Preudhomme C. | 10/22/2016 |
| ASXL1, ASXL2 and ASXL3 are epigenetic scaffold proteins that are involved in the pathogenesis of non-cancerous diseases and cancers.[Review] | Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine.
Katoh M. | 01/23/2016 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |