Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome

Por Huang, James, Shimamura, Akiko
Publicado em 2011

Marrow failure: a window into ribosome biology

Por Ruggero, Davide, Shimamura, Akiko
Publicado em 2014

Pathophysiology and Management of Inherited Bone Marrow Failure Syndromes

Por Shimamura, Akiko, Alter, Blanche P.
Publicado em 2010

Shwachman Diamond Syndrome – a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment

Por Burroughs, Lauri, Woolfrey, Ann, Shimamura, Akiko
Publicado em 2009

Non-DBA Disorders of Ribosome Function: Shwachman-Diamond Syndrome and 5q- Syndrome

Por Burwick, Nicholas, Shimamura, Akiko, Liu, Johnson M.
Publicado em 2011

The Shwachman-Diamond SBDS protein localizes to the nucleolus

Por Austin, Karyn M., Leary, Rebecca J., Shimamura, Akiko
Publicado em 2005

Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia

Por Mamrak, Nicholas E., Shimamura, Akiko, Howlett, Niall G.
Publicado no Blood Rev (2016)

Impaired ribosomal subunit association in Shwachman-Diamond syndrome

Por Burwick, Nicholas, Coats, Scott A., Nakamura, Tomoka, Shimamura, Akiko
Publicado em 2012

Spindle microtubule dysfunction and cancer predisposition

Por Stumpff, Jason, Ghule, Prachi N., Shimamura, Akiko, Stein, Janet L., Greenblatt, Marc
Publicado em 2014

Loss of Matrix Adhesion Triggers Rapid Transformation-Selective Apoptosis in Fibroblasts

Por McGill, Gaël, Shimamura, Akiko, Bates, Richard C., Savage, Robert E., Fisher, David E.
Publicado em 1997

SBDS Protein Expression Patterns in the Bone Marrow

Por Wong, Trisha E., Calicchio, Monica L., Fleming, Mark D., Shimamura, Akiko, Harris, Marian H.
Publicado em 2010

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA

Por Ganapathi, Karthik A., Austin, Karyn M., Lee, Chung-Sheng, Dias, Anusha, Malsch, Maggie M., Reed, Robin, Shimamura, Akiko
Publicado em 2007

A simulation-based comparison of two methods for determining relaxation rates from relaxometry images

Por Marro, Kenneth, Otto, Randall, Kolokythas, Orpheus, Shimamura, Akiko, Sanders, Jean E., McDonald, George B., Friedman, Seth D.
Publicado em 2011

FAM111B MUTATION IS ASSOCIATED WITH INHERITED EXOCRINE PANCREATIC DYSFUNCTION

Por Seo, Aaron, Walsh, Tom, Lee, Ming, Ho, Phoenix, Hsu, Evelyn Kanyu, Sidbury, Robert, King, Mary-Claire, Shimamura, Akiko
Publicado no Pancreas (2016)

Severe Combined Immunodeficiency (SCID) Presenting with Neonatal Aplastic Anemia

Por Scott, Angela, Glover, Jason, Skoda-Smith, Suzanne, Torgerson, Troy, Xu, Min, Burroughs, Lauri, Woolfrey, Ann, Fleming, Mark, Shimamura, Akiko
Publicado no Pediatr Blood Cancer (2015)

Knockdown of Fanconi anemia genes in human embryonic stem cells reveals early developmental defects in the hematopoietic lineage

Por Tulpule, Asmin, Lensch, M. William, Miller, Justine D., Austin, Karyn, D'Andrea, Alan, Schlaeger, Thorsten M., Shimamura, Akiko, Daley, George Q.
Publicado em 2010

Disease-specific induced pluripotent stem (iPS) cells

Por Park, In-Hyun, Arora, Natasha, Huo, Hongguang, Maherali, Nimet, Ahfeldt, Tim, Shimamura, Akiko, Lensch, M. William, Cowan, Chad, Hochedlinger, Konrad, Daley, George Q.
Publicado em 2008

Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome

Por Yang, Zhantao, Keel, Siobán B., Shimamura, Akiko, Liu, Li, Gerds, Aaron T., Li, Henry Y., Wood, Brent L., Scott, Bart L., Abkowitz, Janis L.
Publicado no Sci Transl Med (2016)

Disease associated perturbations of H/ACA small RNA activity reveal a functional role for specialized RNA modifications in hematopoietic stem cell differentiation

Por Bellodi, Cristian, McMahon, Mary, Contreras, Adrian, Juliano, Dayle, Kopmar, Noam, Nakamura, Tomoka, Maltby, David, Burlingame, Alma, Savage, Sharon A., Shimamura, Akiko, Ruggero, Davide
Publicado em 2013

Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update From the North-American Shwachman-Diamond Syndrome Registry

Por Myers, Kasiani C., Bolyard, Audrey Anna, Otto, Barbara, Wong, Trisha E., Jones, Amanda, Harris, Richard E., Davies, Stella M., Dale, David C., Shimamura, Akiko
Publicado em 2013