| A hemizygous loss-of-function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia. | A hemizygous loss-of-function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia.
Luo C, Chen Z, Meng L, Tan C, He W, Tu C, Du J, Lu GX, Lin G, Tan YQ, Hu TY. | 10/2/2024 |
| Endometrial Stromal Sarcomas With BCOR Internal Tandem Duplication and Variant BCOR/BCORL1 Rearrangements Resemble High-grade Endometrial Stromal Sarcomas With Recurrent CDK4 Pathway Alterations and MDM2 Amplifications. | Endometrial Stromal Sarcomas With BCOR Internal Tandem Duplication and Variant BCOR/BCORL1 Rearrangements Resemble High-grade Endometrial Stromal Sarcomas With Recurrent CDK4 Pathway Alterations and MDM2 Amplifications.
Kommoss FKF, Chiang S, Köbel M, Koelsche C, Chang KT, Irving JA, Dickson B, Thiryayi S, Rouzbahman M, Rasty G, von Deimling A, Lee CH, Turashvili G. | 07/23/2022 |
| BCOR and BCORL1 Mutations Drive Epigenetic Reprogramming and Oncogenic Signaling by Unlinking PRC1.1 from Target Genes. | BCOR and BCORL1 Mutations Drive Epigenetic Reprogramming and Oncogenic Signaling by Unlinking PRC1.1 from Target Genes.
Schaefer EJ, Wang HC, Karp HQ, Meyer CA, Cejas P, Gearhart MD, Adelman ER, Fares I, Apffel A, Lim K, Xie Y, Gibson CJ, Schenone M, Murdock HM, Wang ES, Gondek LP, Carroll MP, Vedula RS, Winer ES, Garcia JS, Stone RM, Luskin MR, Carr SA, Long HW, Bardwell VJ, Figueroa ME, Lindsley RC., Free PMC Article | 05/7/2022 |
| Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders. | Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.
Gafner M, Michelson M, Argilli E, Yosovich K, Sherr EH, Parks KC, England EM, Hady-Cohen R, Leibovitz Z, Lev D, Michaeli-Yosef Y, Lerman-Sagie T, Blumkin L., Free PMC Article | 04/2/2022 |
| Clinicopathological and genomic characterization of BCORL1-driven high-grade endometrial stromal sarcomas. | Clinicopathological and genomic characterization of BCORL1-driven high-grade endometrial stromal sarcomas.
Lin DI, Huang RSP, Mata DA, Decker B, Danziger N, Lechpammer M, Hiemenz M, Ramkissoon SH, Ross JS, Elvin JA. | 03/26/2022 |
| Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene. | Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene.
Muthusamy B, Bellad A, Girimaji SC, Pandey A., Free PMC Article | 09/25/2021 |
| Human X chromosome exome sequencing identifies BCORL1 as contributor to spermatogenesis. | Human X chromosome exome sequencing identifies BCORL1 as contributor to spermatogenesis.
Lu C, Zhang Y, Qin Y, Xu Q, Zhou R, Cui Y, Zhu Y, Zhang X, Zhang J, Wei X, Wang M, Hang B, Mao JH, Snijders AM, Liu M, Hu Z, Shen H, Zhou Z, Guo X, Wu X, Wang X, Xia Y. | 09/11/2021 |
| Age-Related Co-Expression of BCOR and BCORL1 mRNA in Acute Myeloid Leukemia. | Age-Related Co-Expression of BCOR and BCORL1 mRNA in Acute Myeloid Leukemia.
Coskun FR, Percin-Pacal F, Emrence Z, Ar MC, Abaci N, Unuvar A, Eskazan AE, Elverdi T, Salihoglu A, Seflekci Y, Karakas Z, Soysal T, Sirma-Ekmekci S. | 08/14/2021 |
| [Clinical Characteristics and Prognostic Significance of BCOR/BCORL1 Gene Mutation in Patients with Myelodysplastic Syndromes]. | [Clinical Characteristics and Prognostic Significance of BCOR/BCORL1 Gene Mutation in Patients with Myelodysplastic Syndromes].
Cen YX, Li Y. | 12/12/2020 |
| patients with acquired Acquired pure red cell aplasia may have clonal gene mutations. The patients with BCOR and BCORL1 mutations may suggest a better response to IST compared with those with other mutations. | Gene mutation profile in patients with acquired pure red cell aplasia.
Long Z, Li H, Du Y, Chen M, Zhuang J, Han B. | 07/18/2020 |
| We report five individuals from three pedigrees with phenotypes including intellectual disability, behavioral difficulties, and dysmorphic features who were found via whole exome sequencing to have variants in BCORL1. In silico analysis of these variants strongly suggests pathogenicity. We propose that hemizygous pathogenic variants in BCORL1 underlie a newly identified X-linked epigenetic syndrome. | Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.
Shukla A, Girisha KM, Somashekar PH, Nampoothiri S, McClellan R, Vernon HJ. | 04/25/2020 |
| Either endogenous BCORL1 silencing or ectopic BCORL1(Q1076H) expression mimicked the effects of a CRISPR/Cas9-edited BCORL1(Q1076H) locus. | Concomitant BCORL1 and BRAF Mutations in Vemurafenib-Resistant Melanoma Cells.
Mologni L, Costanza M, Sharma GG, Viltadi M, Massimino L, Citterio S, Purgante S, Raman H, Pirola A, Zucchetti M, Piazza R, Gambacorti-Passerini C., Free PMC Article | 12/22/2018 |
| BCORL1 knockdown up-regulates E-cadherin expression and subsequently inhibits cell migration and invasion of lung cancer cells. | [Expression and clinical significance of BCL6 corepressor-like 1 in non-small cell lung cancer].
Zhao X, Tuo H, Si M, Wang L, Liang P. | 07/2/2016 |
| study concluded that in pediatric acute myeloid leukemia, BCOR and BCORL1 mutations rarely occur | BCOR and BCORL1 mutations in pediatric acute myeloid leukemia.
de Rooij JD, van den Heuvel-Eibrink MM, Hermkens MC, Verboon LJ, Arentsen-Peters ST, Fornerod M, Baruchel A, Stary J, Reinhardt D, de Haas V, Pieters R, Zwaan CM., Free PMC Article | 12/12/2015 |
| genetic association study in population in Italy: Data suggest BCORL1 mutations/single nucleotide polymorphisms are not associated with leukemic transformation of chronic myeloproliferative neoplasms (MPN) into acute myeloid leukemia (AML). [LETTER] | Mutational analysis of BCORL1 in the leukemic transformation of chronic myeloproliferative neoplasms.
Rotunno G, Guglielmelli P, Biamonte F, Rumi E, Cazzola M, Vannucchi AM. | 04/12/2014 |
| Data indicate that sequencing of BCOR and related BCORL1 genes in a cohort of 354 myelodysplastic syndromes (MDS) patients identified 4.2% and 0.8% of mutations respectively. | BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.
Damm F, Chesnais V, Nagata Y, Yoshida K, Scourzic L, Okuno Y, Itzykson R, Sanada M, Shiraishi Y, Gelsi-Boyer V, Renneville A, Miyano S, Mori H, Shih LY, Park S, Dreyfus F, Guerci-Bresler A, Solary E, Rose C, Cheze S, Prébet T, Vey N, Legentil M, Duffourd Y, de Botton S, Preudhomme C, Birnbaum D, Bernard OA, Ogawa S, Fontenay M, Kosmider O. | 12/28/2013 |
| BCORL1 by genetic criteria is a novel candidate tumor suppressor gene, joining the growing list of genes recurrently mutated in acute myelogenous leukemia. | Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia.
Li M, Collins R, Jiao Y, Ouillette P, Bixby D, Erba H, Vogelstein B, Kinzler KW, Papadopoulos N, Malek SN., Free PMC Article | 01/28/2012 |
| Dysregulated BCoR-L1 expression is associated with breast cancer | BCoR-L1 variation and breast cancer.
Lose F, Arnold J, Young DB, Brown CJ, Mann GJ, Pupo GM, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Khanna KK, Chenevix-Trench G, Spurdle AB., Free PMC Article | 01/21/2010 |