In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency

Direct interaction between EFL1 and SBDS is mediated by an intrinsically disordered insertion domain

(2014) Nozomi Asano et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Marrow failure: a window into ribosome biology

(2014) D. Ruggero et al.   BLOOD

Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome

(2014) Takeo Nakaya et al.   PATHOLOGY INTERNATIONAL

Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman–Diamond Syndrome

(2013) Abril Gijsbers et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Pluripotent Stem Cell Models of Shwachman-Diamond Syndrome Reveal a Common Mechanism for Pancreatic and Hematopoietic Dysfunction

(2013) Asmin Tulpule et al.   Cell Stem Cell

Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

(2013) Heidi Schaballie et al.   EUROPEAN JOURNAL OF PEDIATRICS

A complex secretory program orchestrated by the inflammasome controls paracrine senescence

(2013) Juan Carlos Acosta et al.   NATURE CELL BIOLOGY

Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome

(2013) Santhosh Dhanraj et al.   PEDIATRIC BLOOD & CANCER

Multiple Ribosomal Proteins Are Expressed at High Levels in Developing Zebrafish Endoderm and Are Required for Normal Exocrine Pancreas Development

(2013) Elayne Provost et al.   Zebrafish

Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes

(2013) Dawn E. Watkins-Chow et al.   PLoS Genetics

Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: Additional evidence of a brain phenotype

(2012) Jan Booij et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Impaired ribosomal subunit association in Shwachman-Diamond syndrome

(2012) N. Burwick et al.   BLOOD

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

(2012) Steven J Keogh et al.   BMC Pediatrics

Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development

(2012) E. Provost et al.   DEVELOPMENT

Deficiency of Sbds in the Mouse Pancreas Leads to Features of Shwachman–Diamond Syndrome, With Loss of Zymogen Granules

(2012) Marina E. Tourlakis et al.   GASTROENTEROLOGY

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

(2012) J. Donadieu et al.   HAEMATOLOGICA

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

(2012) Gulay Sezgin et al.   PEDIATRIC BLOOD & CANCER

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

(2011) Yigal Dror et al.   Annals of the New York Academy of Sciences

Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome

(2011) K. A. McGowan et al.   BLOOD

Defective ribosome assembly in Shwachman-Diamond syndrome

(2011) C. C. Wong et al.   BLOOD

Establishing Rps6 hemizygous mice as a model for studying how ribosomal protein haploinsufficiency impairs erythropoiesis

(2011) Siobán B. Keel et al.   EXPERIMENTAL HEMATOLOGY

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

(2011) A. J. Finch et al.   GENES & DEVELOPMENT

Four faces of cellular senescence

(2011) Francis Rodier et al.   JOURNAL OF CELL BIOLOGY

Breast cancer in a case of Shwachman Diamond syndrome

(2011) Sharon A. Singh et al.   PEDIATRIC BLOOD & CANCER

Animal Models of Diamond Blackfan Anemia

(2011) Kelly A. McGowan et al.   SEMINARS IN HEMATOLOGY

The Senescence-Associated Secretory Phenotype: The Dark Side of Tumor Suppression

(2010) Jean-Philippe Coppé et al.   Annual Review of Pathology-Mechanisms of Disease

Ribosomopathies: human disorders of ribosome dysfunction

(2010) A. Narla et al.   BLOOD

TGFβ-dependent gene expression shows that senescence correlates with abortive differentiation along several lineages in Myc-induced lymphomas

(2010) Judith Müller et al.   CELL CYCLE

Cellular senescence: putting the paradoxes in perspective

(2010) Judith Campisi   CURRENT OPINION IN GENETICS & DEVELOPMENT

Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita

(2010) Cristian Bellodi et al.   EMBO JOURNAL

The essence of senescence

(2010) T. Kuilman et al.   GENES & DEVELOPMENT

Transforming growth factor-beta induces senescence in hepatocellular carcinoma cells and inhibits tumor growth

(2010) Serif Senturk et al.   HEPATOLOGY

Mechanism of eIF6-mediated Inhibition of Ribosomal Subunit Joining

(2010) Marco Gartmann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TGFβ signaling in the brain increases with aging and signals to astrocytes and innate immune cells in the weeks after stroke

(2010) Kristian P Doyle et al.   Journal of Neuroinflammation

A Human-Like Senescence-Associated Secretory Phenotype Is Conserved in Mouse Cells Dependent on Physiological Oxygen

(2010) Jean-Philippe Coppé et al.   PLoS One

Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics

(2009) C. Orelio et al.   HAEMATOLOGICA

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses

(2009) Heather L. Ball et al.   HUMAN MOLECULAR GENETICS

The Behavioral Phenotype of School-Age Children with Shwachman Diamond Syndrome Indicates Neurocognitive Dysfunction with Loss of Shwachman-Bodian-Diamond Syndrome Gene Function

(2009) Elizabeth N. Kerr et al.   JOURNAL OF PEDIATRICS

The p53 Tumor Suppressor Causes Congenital Malformations in Rpl24-Deficient Mice and Promotes Their Survival

(2009) M. Barkic et al.   MOLECULAR AND CELLULAR BIOLOGY

Shwachman–Diamond syndrome is associated with structural brain alterations on MRI

(2008) Sanna Toiviainen-Salo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nucleolus, Ribosomes, and Cancer

(2008) Lorenzo Montanaro et al.   AMERICAN JOURNAL OF PATHOLOGY

Senescence of Activated Stellate Cells Limits Liver Fibrosis

(2008) Valery Krizhanovsky et al.   CELL

The post-transcriptional steps of eukaryotic ribosome biogenesis

(2008) A. K. Henras et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Pancreatic Inactivation of c-Myc Decreases Acinar Mass and Transdifferentiates Acinar Cells Into Adipocytes in Mice

(2008) Claire Bonal et al.   GASTROENTEROLOGY

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

(2008) Karyn M. Austin et al.   JOURNAL OF CLINICAL INVESTIGATION

Magnetic Resonance Imaging Findings of the Pancreas in Patients with Shwachman-Diamond Syndrome and Mutations in the SBDS Gene

(2008) Sanna Toiviainen-Salo et al.   JOURNAL OF PEDIATRICS

Eukaryotic initiation factor 6 is rate-limiting in translation, growth and transformation

(2008) Valentina Gandin et al.   NATURE

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

(2008) Kelly A McGowan et al.   NATURE GENETICS

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

(2008) Natalie C Jones et al.   NATURE MEDICINE