Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.

Autor: Donovan FX; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland., Kimble DC; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland., Kim Y; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York., Lach FP; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York., Harper U; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland., Kamat A; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland., Jones M; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland., Sanborn EM; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York., Tryon R; Blood and Marrow Transplant Program, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Wagner JE; Blood and Marrow Transplant Program, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., MacMillan ML; Blood and Marrow Transplant Program, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Ostrander EA; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland., Auerbach AD; Human Genetics and Hematology Program, The Rockefeller University, New York, New York., Smogorzewska A; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York., Chandrasekharappa SC; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.

Publikováno v: Human mutation [Hum Mutat] 2016 May; Vol. 37 (5), pp. 465-8. Date of Electronic Publication: 2016 Feb 23.

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.

Autor: Rickman KA; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY 10065, USA., Lach FP; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY 10065, USA., Abhyankar A; New York Genome Center, New York, NY 10013, USA., Donovan FX; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Sanborn EM; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY 10065, USA., Kennedy JA; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY 10065, USA., Sougnez C; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Gabriel SB; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Elemento O; Institute for Computational Biomedicine, Department of Physiology and Biophysics, Weill Cornell Medical College, New York, NY 10021, USA., Chandrasekharappa SC; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Schindler D; Institute for Human Genetics, Biozentrum, Universität Würzburg, 97074 Würzburg, Germany., Auerbach AD; Human Genetics and Hematology, The Rockefeller University, New York, NY 10065, USA., Smogorzewska A; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY 10065, USA. Electronic address: asmogorzewska@rockefeller.edu.

Publikováno v: Cell reports [Cell Rep] 2015 Jul 07; Vol. 12 (1), pp. 35-41. Date of Electronic Publication: 2015 Jun 25.

The circadian E3 ligase FBXL21 regulates myoblast differentiation and sarcomere architecture via MYOZ1 ubiquitination and NFAT signaling.

Autor: Lim, Ji Ye¹ (AUTHOR), Kim, Eunju¹ (AUTHOR), Douglas, Collin M.² (AUTHOR), Wirianto, Marvin¹ (AUTHOR), Han, Chorong¹ (AUTHOR), Ono, Kaori¹ (AUTHOR), Kim, Sun Young¹ (AUTHOR), Ji, Justin H.¹ (AUTHOR), Tran, Celia¹ (AUTHOR), Chen, Zheng¹ (AUTHOR), Esser, Karyn A.² (AUTHOR), Yoo, Seung-Hee¹ (AUTHOR) seung-hee.yoo@uth.tmc.edu

Publikováno v: PLoS Genetics. 12/27/2022, Vol. 18 Issue 12, p1-21. 21p.

Interplay between the EMT transcription factors ZEB1 and ZEB2 regulates hematopoietic stem and progenitor cell differentiation and hematopoietic lineage fidelity.

Autor: Wang, Jueqiong¹ (AUTHOR), Farkas, Carlos^2,3 (AUTHOR), Benyoucef, Aissa^2,3 (AUTHOR), Carmichael, Catherine¹ (AUTHOR), Haigh, Katharina^1,2,3 (AUTHOR), Wong, Nick¹ (AUTHOR), Huylebroeck, Danny^4,5 (AUTHOR), Stemmler, Marc P.⁶ (AUTHOR), Brabletz, Simone⁶ (AUTHOR), Brabletz, Thomas⁶ (AUTHOR), Nefzger, Christian M.^7,8,9 (AUTHOR), Goossens, Steven^10,11,12 (AUTHOR), Berx, Geert^10,11 (AUTHOR), Polo, Jose M.^6,7,8 (AUTHOR), Haigh, Jody J.^1,2,3 (AUTHOR) jody.haigh@umanitoba.ca

Publikováno v: PLoS Biology. 9/22/2021, Vol. 19 Issue 9, p1-33. 33p. 2 Color Photographs, 3 Diagrams, 5 Graphs.

Deciphering the role of post-translational modifications in fanconi anemia proteins and their influence on tumorigenesis.

Autor: Ma R; State Key Laboratory of Biocatalysis and Enzyme Engineering, School of Life Sciences, Hubei University, Wuhan, Hubei, 430062, China., Xu X; State Key Laboratory of Biocatalysis and Enzyme Engineering, School of Life Sciences, Hubei University, Wuhan, Hubei, 430062, China. xinlin@hubu.edu.cn.

Publikováno v: Cancer gene therapy [Cancer Gene Ther] 2024 Aug; Vol. 31 (8), pp. 1113-1123. Date of Electronic Publication: 2024 Jun 15.