Diamond Blackfan Anemia: Diagnosis, Treatment and Molecular Pathogenesis

Autor Lipton, Jeffrey M., Ellis, Steven R.
Vydáno 2009

Diamond Blackfan anemia 2008 – 2009: Broadening the scope of ribosome biogenesis disorders

Autor Lipton, Jeffrey M., Ellis, Steven R.
Vydáno 2010

The Sua5 Protein Is Essential for Normal Translational Regulation in Yeast

Autor Lin, Changyi A., Ellis, Steven R., True, Heather L.
Vydáno 2010

Rpm2p: separate domains promote tRNA and Rpm1r maturation in Saccharomyces cerevisiae mitochondria

Autor Stribinskis, Vilius, Gao, Guo-Jian, Sulo, Pavol, Ellis, Steven R., Martin, Nancy C.
Vydáno 2001

Rpm2p, a Component of Yeast Mitochondrial RNase P, Acts as a Transcriptional Activator in the Nucleus

Autor Stribinskis, Vilius, Heyman, Hong-Chen, Ellis, Steven R., Steffen, Marlene C., Martin, Nancy C.
Vydáno 2005

Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome

Autor Moore, Joseph B., Farrar, Jason E., Arceci, Robert J., Liu, Johnson M., Ellis, Steven R.
Vydáno 2010

Ribosomal proteins Rps0 and Rps21 of Saccharomyces cerevisiae have overlapping functions in the maturation of the 3′ end of 18S rRNA

Autor Tabb-Massey, Amy, Caffrey, Jacqueline M., Logsden, Paula, Taylor, Stephen, Trent, John O., Ellis, Steven R.
Vydáno 2003

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

Autor Flygare, Johan, Aspesi, Anna, Bailey, Joshua C., Miyake, Koichi, Caffrey, Jacqueline M., Karlsson, Stefan, Ellis, Steven R.
Vydáno 2007

Loss of GATA-1 Full Length as a Cause of Diamond–Blackfan Anemia Phenotype

Autor Parrella, Sara, Aspesi, Anna, Quarello, Paola, Garelli, Emanuela, Pavesi, Elisa, Carando, Adriana, Nardi, Margherita, Ellis, Steven R., Ramenghi, Ugo, Dianzani, Irma
Vydáno v Pediatr Blood Cancer (2014)

Maf1p, a Negative Effector of RNA Polymerase III in Saccharomyces cerevisiae

Autor Pluta, Krzysztof, Lefebvre, Olivier, Martin, Nancy C., Smagowicz, Wieslaw J., Stanford, David R., Ellis, Steven R., Hopper, Anita K., Sentenac, Andre, Boguta, Magdalena
Vydáno 2001

IB4-binding sensory neurons in the adult rat express a novel 3′ UTR-extended isoform of CaMK4 that is associated with its localization to axons

Autor Harrison, Benjamin J., Flight, Robert M., Gomes, Cynthia, Venkat, Gayathri, Ellis, Steven R, Sankar, Uma, Twiss, Jeffery L., Rouchka, Eric C., Petruska, Jeffrey C.
Vydáno 2014

Ribosomal protein gene deletions in Diamond-Blackfan anemia

Autor Farrar, Jason E., Vlachos, Adrianna, Atsidaftos, Eva, Carlson-Donohoe, Hannah, Markello, Thomas C., Arceci, Robert J., Ellis, Steven R., Lipton, Jeffrey M., Bodine, David M.
Vydáno 2011

p53-Independent Cell Cycle and Erythroid Differentiation Defects in Murine Embryonic Stem Cells Haploinsufficient for Diamond Blackfan Anemia-Proteins: RPS19 versus RPL5

Autor Singh, Sharon A., Goldberg, Tracie A., Henson, Adrianna L., Husain-Krautter, Sehba, Nihrane, Abdallah, Blanc, Lionel, Ellis, Steven R., Lipton, Jeffrey M., Liu, Johnson M.
Vydáno 2014

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

Autor Ebert, Benjamin L., Pretz, Jennifer, Bosco, Jocelyn, Chang, Cindy Y., Tamayo, Pablo, Galili, Naomi, Raza, Azra, Root, David E., Attar, Eyal, Ellis, Steven R., Golub, Todd R.
Vydáno 2008

Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with TP53 mutations

Autor Ajore, Ram, Raiser, David, McConkey, Marie, Jöud, Magnus, Boidol, Bernd, Mar, Brenton, Saksena, Gordon, Weinstock, David M, Armstrong, Scott, Ellis, Steven R, Ebert, Benjamin L, Nilsson, Björn
Vydáno v EMBO Mol Med (2017)

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia

Autor Aspesi, Anna, Betti, Marta, Sculco, Marika, Actis, Chiara, Olgasi, Cristina, Wlodarski, Marcin W., Vlachos, Adrianna, Lipton, Jeffrey M., Ramenghi, Ugo, Santoro, Claudio, Follenzi, Antonia, Ellis, Steven R., Dianzani, Irma
Vydáno v Hum Mutat (2018)

Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy

Autor Aspesi, Anna, Monteleone, Valentina, Betti, Marta, Actis, Chiara, Morleo, Giulia, Sculco, Marika, Guarrera, Simonetta, Wlodarski, Marcin W., Ramenghi, Ugo, Santoro, Claudio, Ellis, Steven R., Loreni, Fabrizio, Follenzi, Antonia, Dianzani, Irma
Vydáno v Sci Rep (2017)

Author Correction: Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy

Autor Aspesi, Anna, Monteleone, Valentina, Betti, Marta, Actis, Chiara, Morleo, Giulia, Sculco, Marika, Guarrera, Simonetta, Wlodarski, Marcin W., Ramenghi, Ugo, Santoro, Claudio, Ellis, Steven R., Loreni, Fabrizio, Follenzi, Antonia, Dianzani, Irma
Vydáno v Sci Rep (2018)

Molecular convergence in ex vivo models of Diamond-Blackfan anemia

Autor O'Brien, Kelly A., Farrar, Jason E., Vlachos, Adrianna, Anderson, Stacie M., Tsujiura, Crystiana A., Lichtenberg, Jens, Blanc, Lionel, Atsidaftos, Eva, Elkahloun, Abdel, An, Xiuli, Ellis, Steven R., Lipton, Jeffrey M., Bodine, David M.
Vydáno v Blood (2017)

The Increased Prevalence of Congenital Heart Disease (CHD) in Children with Diamond Blackfan Anemia (DBA) Suggests Unrecognized DBA as a Cause of CHD in the General Population: A R...

Autor Vlachos, Adrianna, Osorio, Diana S., Atsidaftos, Evangelia, Kang, Jessica, Lababidi, Mohammad Lutfi, Seiden, Howard S., Gruber, Dorota, Glader, Bertil E., Onel, Kenan, Farrar, Jason E., Bodine, David M., Aspesi, Anna, Dianzani, Irma, Ramenghi, Ugo, Ellis, Steven R., Lipton, Jeffrey M.
Vydáno v Circ Genom Precis Med (2018)