Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back

Defective ribosome assembly in Shwachman-Diamond syndrome

(2011) C. C. Wong et al.   BLOOD

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

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

Bone marrow CD169+macrophages promote the retention of hematopoietic stem and progenitor cells in the mesenchymal stem cell niche

(2011) Andrew Chow et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Towards a serotonin-dependent leptin roadmap in the brain

(2011) Franck Oury et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis

(2010) R. Leung et al.   BLOOD

Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia

(2010) Marc H. G. P. Raaijmakers et al.   NATURE

Mesenchymal and haematopoietic stem cells form a unique bone marrow niche

(2010) Simón Méndez-Ferrer et al.   NATURE

A Serotonin-Dependent Mechanism Explains the Leptin Regulation of Bone Mass, Appetite, and Energy Expenditure

(2009) Vijay K. Yadav et al.   CELL

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

(2009) J. B. Moore et al.   HAEMATOLOGICA

FoxO1 expression in osteoblasts regulates glucose homeostasis through regulation of osteocalcin in mice

(2009) Marie-Therese Rached et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

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

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

Myocardial function in patients with Shwachman-Diamond syndrome: Aspects to consider before stem cell transplantation

(2008) Sanna Toiviainen-Salo et al.   PEDIATRIC BLOOD & CANCER