Pesquisa | Secretaria de Estado da Saúde

1.

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis.

Khajuria, Rajiv K; Munschauer, Mathias; Ulirsch, Jacob C; Fiorini, Claudia; Ludwig, Leif S; McFarland, Sean K; Abdulhay, Nour J; Specht, Harrison; Keshishian, Hasmik; Mani, D R; Jovanovic, Marko; Ellis, Steven R; Fulco, Charles P; Engreitz, Jesse M; Schütz, Sabina; Lian, John; Gripp, Karen W; Weinberg, Olga K; Pinkus, Geraldine S; Gehrke, Lee; Regev, Aviv; Lander, Eric S; Gazda, Hanna T; Lee, Winston Y; Panse, Vikram G; Carr, Steven A; Sankaran, Vijay G.

Cell ; 173(1): 90-103.e19, 2018 03 22.

Artigo Inglês | MEDLINE | ID: mdl-29551269

2.

Molecular convergence in ex vivo models of Diamond-Blackfan anemia.

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.

Blood ; 129(23): 3111-3120, 2017 06 08.

Artigo Inglês | MEDLINE | ID: mdl-28377399

3.

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

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.

Hum Mutat ; 39(8): 1102-1111, 2018 08.

Artigo Inglês | MEDLINE | ID: mdl-29766597

4.

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.

Mirabello, Lisa; Khincha, Payal P; Ellis, Steven R; Giri, Neelam; Brodie, Seth; Chandrasekharappa, Settara C; Donovan, Frank X; Zhou, Weiyin; Hicks, Belynda D; Boland, Joseph F; Yeager, Meredith; Jones, Kristine; Zhu, Bin; Wang, Mingyi; Alter, Blanche P; Savage, Sharon A.

J Med Genet ; 54(6): 417-425, 2017 06.

Artigo Inglês | MEDLINE | ID: mdl-28280134

5.

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

Mirabello, Lisa; Macari, Elizabeth R; Jessop, Lea; Ellis, Steven R; Myers, Timothy; Giri, Neelam; Taylor, Alison M; McGrath, Katherine E; Humphries, Jessica M; Ballew, Bari J; Yeager, Meredith; Boland, Joseph F; He, Ji; Hicks, Belynda D; Burdett, Laurie; Alter, Blanche P; Zon, Leonard; Savage, Sharon A.

Blood ; 124(1): 24-32, 2014 Jul 03.

Artigo Inglês | MEDLINE | ID: mdl-24829207

6.

Bmi1 promotes erythroid development through regulating ribosome biogenesis.

Gao, Rui; Chen, Sisi; Kobayashi, Michihiro; Yu, Hao; Zhang, Yingchi; Wan, Yang; Young, Sara K; Soltis, Anthony; Yu, Ming; Vemula, Sasidhar; Fraenkel, Ernest; Cantor, Alan; Antipin, Yevgeniy; Xu, Yang; Yoder, Mervin C; Wek, Ronald C; Ellis, Steven R; Kapur, Reuben; Zhu, Xiaofan; Liu, Yan.

Stem Cells ; 33(3): 925-38, 2015 Mar.

Artigo Inglês | MEDLINE | ID: mdl-25385494

7.

Nucleolar stress in Diamond Blackfan anemia pathophysiology.

Ellis, Steven R.

Biochim Biophys Acta ; 1842(6): 765-8, 2014 Jun.

Artigo Inglês | MEDLINE | ID: mdl-24412987

8.

Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome.

Vlachos, Adrianna; Farrar, Jason E; Atsidaftos, Eva; Muir, Ellen; Narla, Anupama; Markello, Thomas C; Singh, Sharon A; Landowski, Michael; Gazda, Hanna T; Blanc, Lionel; Liu, Johnson M; Ellis, Steven R; Arceci, Robert J; Ebert, Benjamin L; Bodine, David M; Lipton, Jeffrey M.

Blood ; 122(14): 2487-90, 2013 Oct 03.

Artigo Inglês | MEDLINE | ID: mdl-23943650

9.

Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.

Farrar, Jason E; Quarello, Paola; Fisher, Ross; O'Brien, Kelly A; Aspesi, Anna; Parrella, Sara; Henson, Adrianna L; Seidel, Nancy E; Atsidaftos, Eva; Prakash, Supraja; Bari, Shahla; Garelli, Emanuela; Arceci, Robert J; Dianzani, Irma; Ramenghi, Ugo; Vlachos, Adrianna; Lipton, Jeffrey M; Bodine, David M; Ellis, Steven R.

Am J Hematol ; 89(10): 985-91, 2014 Oct.

Artigo Inglês | MEDLINE | ID: mdl-25042156

10.

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Parrella, Sara; Aspesi, Anna; Quarello, Paola; Garelli, Emanuela; Pavesi, Elisa; Carando, Adriana; Nardi, Margherita; Ellis, Steven R; Ramenghi, Ugo; Dianzani, Irma.

Pediatr Blood Cancer ; 61(7): 1319-21, 2014 Jul.

Artigo Inglês | MEDLINE | ID: mdl-24453067

11.

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

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.

Nature ; 451(7176): 335-9, 2008 Jan 17.

Artigo Inglês | MEDLINE | ID: mdl-18202658

12.

Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome.

Henson, Adrianna L; Moore, Joseph B; Alard, Pascale; Wattenberg, Max M; Liu, Johnson M; Ellis, Steven R.

Biochem Biophys Res Commun ; 437(1): 29-34, 2013 Jul 19.

Artigo Inglês | MEDLINE | ID: mdl-23792098

13.

Drawing to a Diamond flush.

Ellis, Steven R.

Blood ; 117(9): 2558-9, 2011 Mar 03.

Artigo Inglês | MEDLINE | ID: mdl-21372157

14.

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

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.

Blood ; 118(26): 6943-51, 2011 Dec 22.

Artigo Inglês | MEDLINE | ID: mdl-22045982

15.

Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS.

Sezgin, Gulay; Henson, Adrianna L; Nihrane, Abdallah; Singh, Sharon; Wattenberg, Max; Alard, Pascale; Ellis, Steven R; Liu, Johnson M.

Pediatr Blood Cancer ; 60(2): 281-6, 2013 Feb.

Artigo Inglês | MEDLINE | ID: mdl-22997148

16.

An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity.

Bhoopalan, Senthil Velan; Yen, Jonathan S; Mayuranathan, Thiyagaraj; Mayberry, Kalin D; Yao, Yu; Lillo Osuna, Maria Angeles; Jang, Yoonjeong; Liyanage, Janaka Ss; Blanc, Lionel; Ellis, Steven R; Wlodarski, Marcin W; Weiss, Mitchell J.

JCI Insight ; 8(1)2023 01 10.

Artigo Inglês | MEDLINE | ID: mdl-36413407

17.

Finding a diamond in the (mouse is) rough.

Henson, Adrianna L; Ellis, Steven R.

Blood ; 116(15): 2623-5, 2010 Oct 14.

Artigo Inglês | MEDLINE | ID: mdl-20947688

18.

Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation.

Piantanida, Noemy; La Vecchia, Marta; Sculco, Marika; Talmon, Maria; Palattella, Gioele; Kurita, Ryo; Nakamura, Yukio; Ronchi, Antonella Ellena; Dianzani, Irma; Ellis, Steven R; Fresu, Luigia Grazia; Aspesi, Anna.

Front Genet ; 13: 1045236, 2022.

Artigo Inglês | MEDLINE | ID: mdl-36579335

19.

Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia.

Lipton, Jeffrey M; Molmenti, Christine L S; Desai, Pooja; Lipton, Alexander; Ellis, Steven R; Vlachos, Adrianna.

Genes (Basel) ; 13(1)2021 12 26.

Artigo Inglês | MEDLINE | ID: mdl-35052397

20.

Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.

Brodie, Seth A; Khincha, Payal P; Giri, Neelam; Bouk, Aaron J; Steinberg, Mia; Dai, Jieqiong; Jessop, Lea; Donovan, Frank X; Chandrasekharappa, Settara C; de Andrade, Kelvin C; Maric, Irina; Ellis, Steven R; Mirabello, Lisa; Alter, Blanche P; Savage, Sharon A.

Cold Spring Harb Mol Case Stud ; 7(4)2021 08.

Artigo Inglês | MEDLINE | ID: mdl-34162668

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