Diamond Blackfan Anemia: Diagnosis, Treatment and Molecular Pathogenesis

Por Lipton, Jeffrey M., Ellis, Steven R.
Publicado em 2009

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

Por Lipton, Jeffrey M., Ellis, Steven R.
Publicado em 2010

The Sua5 Protein Is Essential for Normal Translational Regulation in Yeast

Por Lin, Changyi A., Ellis, Steven R., True, Heather L.
Publicado em 2010

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

Por Stribinskis, Vilius, Gao, Guo-Jian, Sulo, Pavol, Ellis, Steven R., Martin, Nancy C.
Publicado em 2001

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

Por Stribinskis, Vilius, Heyman, Hong-Chen, Ellis, Steven R., Steffen, Marlene C., Martin, Nancy C.
Publicado em 2005

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

Por Moore, Joseph B., Farrar, Jason E., Arceci, Robert J., Liu, Johnson M., Ellis, Steven R.
Publicado em 2010

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

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

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

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

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

Por Parrella, Sara, Aspesi, Anna, Quarello, Paola, Garelli, Emanuela, Pavesi, Elisa, Carando, Adriana, Nardi, Margherita, Ellis, Steven R., Ramenghi, Ugo, Dianzani, Irma
Publicado no Pediatr Blood Cancer (2014)

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

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

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

Ribosomal protein gene deletions in Diamond-Blackfan anemia

Por 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.
Publicado em 2011

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

Por 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.
Publicado em 2014

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

Por 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.
Publicado em 2008

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

Por 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
Publicado no EMBO Mol Med (2017)

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

Por 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
Publicado no Hum Mutat (2018)

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

Por 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
Publicado no 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

Por 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
Publicado no Sci Rep (2018)

Molecular convergence in ex vivo models of Diamond-Blackfan anemia

Por 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.
Publicado no 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...

Por 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.
Publicado no Circ Genom Precis Med (2018)