Diamond Blackfan Anemia: Diagnosis, Treatment and Molecular Pathogenesis

ανά Lipton, Jeffrey M., Ellis, Steven R.
Έκδοση 2009

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

ανά Lipton, Jeffrey M., Ellis, Steven R.
Έκδοση 2010

The Sua5 Protein Is Essential for Normal Translational Regulation in Yeast

ανά Lin, Changyi A., Ellis, Steven R., True, Heather L.
Έκδοση 2010

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Ribosomal protein gene deletions in Diamond-Blackfan anemia

ανά 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.
Έκδοση 2011

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

ανά 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.
Έκδοση 2014

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

ανά 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.
Έκδοση 2008

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

ανά 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
Τόπος έκδοσης EMBO Mol Med (2017)

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

ανά 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
Τόπος έκδοσης Hum Mutat (2018)

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

ανά 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
Τόπος έκδοσης 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

ανά 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
Τόπος έκδοσης Sci Rep (2018)

Molecular convergence in ex vivo models of Diamond-Blackfan anemia

ανά 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.
Τόπος έκδοσης 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...

ανά 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.
Τόπος έκδοσης Circ Genom Precis Med (2018)