Hanna Gazda : rechercher sur Z-Library

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1

Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: Potential implications for phenotypic heterogeneity

Aurore Crétien, Alexis Proust, Jean Delaunay, Patricia Rincé, Thierry Leblanc, Rolande Ducrocq, Maud Simansour, Isabelle Marie, Hannah Tamary, Jörg Meerpohl, Charlotte Niemeyer, Hanna Gazda, Colin Sie

Journal:

American Journal of Hematology

Année:

2010

Langue:

english

Fichier:

PDF, 250 KB

english, 2010

2

The ribosomal basis of diamond-blackfan anemia: mutation and database update

Ilenia Boria, Emanuela Garelli, Hanna T. Gazda, Anna Aspesi, Paola Quarello, Elisa Pavesi, Daniela Ferrante, Joerg J. Meerpohl, Mutlu Kartal, Lydie Da Costa, Alexis Proust, Thierry Leblanc, Maud Siman

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 226 KB

english, 2010

3

RNA and protein evidence for haplo-insufficiency in Diamond–Blackfan anaemia patients with RPS19 mutations

Hanna T. Gazda, Rong Zhong, Lilia Long, Edyta Niewiadomska, Jeffrey M. Lipton, Anna Ploszynska, Jan M. Zaucha, Adrianna Vlachos, Evangelia Atsidaftos, David H. Viskochil, Charlotte M. Niemeyer, Joerg

Journal:

British Journal of Haematology

Année:

2004

Langue:

english

Fichier:

PDF, 244 KB

english, 2004

4

Recent insights into the pathogenesis of Diamond–Blackfan anaemia

Hanna T. Gazda, Colin A. Sieff

Journal:

British Journal of Haematology

Année:

2006

Langue:

english

Fichier:

PDF, 651 KB

english, 2006

5

Defective Ribosomal Protein Gene Expression Alters Transcription, Translation, Apoptosis, and Oncogenic Pathways in Diamond-Blackfan Anemia

Hanna T. Gazda, Alvin T. Kho, Despina Sanoudou, Jan M. Zaucha, Isaac S. Kohane, Colin A. Sieff, Alan H. Beggs

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 435 KB

english, 2006

6

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond–blackfan anemia

Hanna T. Gazda, Milena Preti, Mee Rie Sheen, Marie-Françoise O'Donohue, Adrianna Vlachos, Stella M. Davies, Antonis Kattamis, Leana Doherty, Michael Landowski, Christopher Buros, Roxanne Ghazvinian, C

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 332 KB

english, 2012

7

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

Hanna T. Gazda, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Hal Schneider, Natasha Darras, Catherine Hasman, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 505 KB

english, 2008

8

Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia

John G. Quigley, Hanna Gazda, Zhantao Yang, Sarah Ball, Colin A. Sieff, Janis L. Abkowitz

Journal:

Blood Cells, Molecules, and Diseases

Année:

2005

Langue:

english

Fichier:

PDF, 101 KB

english, 2005

9

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia

Hanna T. Gazda, Agnieszka Grabowska, Lilia B. Merida-Long, Elzbieta Latawiec, Hal E. Schneider, Jeffrey M. Lipton, Adrianna Vlachos, Eva Atsidaftos, Sarah E. Ball, Karen A. Orfali, Edyta Niewiadomska,

Journal:

The American Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 572 KB

english, 2006

10

Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes

Pereboom, Tamara C., Bondt, Albert, Pallaki, Paschalina, Klasson, Tim D., Goos, Yvonne J., Essers, Paul B., Groot Koerkamp, Marian J.A., Gazda, Hanna T., Holstege, Frank C.P., Costa, Lydie Da, MacInne

Journal:

Experimental Hematology

Année:

2014

Langue:

english

Fichier:

PDF, 1.55 MB

english, 2014

11

Altered translation of GATA1 in Diamond-Blackfan anemia

Ludwig, Leif S, Gazda, Hanna T, Eng, Jennifer C, Eichhorn, Stephen W, Thiru, Prathapan, Ghazvinian, Roxanne, George, Tracy I, Gotlib, Jason R, Beggs, Alan H, Sieff, Colin A, Lodish, Harvey F, Lander,

Journal:

Nature Medicine

Année:

2014

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2014

12

Recurrent GATA1 mutations in Diamond-Blackfan anaemia

Klar, Joakim, Khalfallah, Ayda, Arzoo, Pakeeza Shaiq, Gazda, Hanna T., Dahl, Niklas

Journal:

British Journal of Haematology

Année:

2014

Langue:

english

Fichier:

PDF, 135 KB

english, 2014

13

Niedokrwistość Blackfana i Diamonda z towarzyszącą replikacją parwowirusa B19. Opis przypadku

Krukowska-Jaros, Joanna, Niedzielska, Ewa, Ussowicz, Marek, Gazda, Hanna, Zajączek, Stanisław, Gorczyńska, Ewa

Journal:

Pediatria Polska

Année:

2015

Langue:

polish

Fichier:

PDF, 322 KB

polish, 2015

14

Diamond-Blackfan anemia

Willig, Thiébaut-Noël, Gazda, Hanna, Sieff, Colin A

Journal:

Current Opinion in Hematology

Année:

2000

Langue:

english

Fichier:

PDF, 6.83 MB

english, 2000

15

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult

Narla, Anupama, Yuan, Daniel, Kazerounian, Shideh, LaVasseur, Corinne, Ulirsch, Jacob C., Narla, Jyothsna, Glader, Bertil, Sankaran, Vijay G., Gazda, Hanna

Journal:

Blood Cells, Molecules, and Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 392 KB

english, 2016

16

Drug discovery using induced pluripotent stem cells identifies autophagy as a therapeutic pathway for anemia

Doulatov, Sergei, Vo, Linda, Macari, Elizabeth, Wahlster, Lara, Taylor, Alison, Gupta, Manav, McGrath, Katherine, Narla, Anupama, Alter, Blanche, Gazda, Hanna, Sieff, Colin, Agrawal, Suneet, Beggs, Al

Journal:

Experimental Hematology

Année:

2016

Langue:

english

Fichier:

PDF, 49 KB

english, 2016

17

Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models

Chakraborty, Anirban, Uechi, Tamayo, Nakajima, Yukari, Gazda, Hanna T., O'Donohue, Marie-Françoise, Gleizes, Pierre-Emmanuel, Kenmochi, Naoya

Journal:

Biochemical and Biophysical Research Communications

Année:

2017

Langue:

english

Fichier:

PDF, 1.96 MB

english, 2017

18

Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice

Kazerounian, Shideh, Ciarlini, Pedro D.S.C., Yuan, Daniel, Ghazvinian, Roxanne, Alberich-Jorda, Meritxell, Joshi, Mugdha, Zhang, Hong, Beggs, Alan H., Gazda, Hanna T.

Journal:

Journal of Cancer

Année:

2016

Langue:

english

Fichier:

PDF, 702 KB

english, 2016