TGF-β signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond syndrome

Human haematopoietic stem cell lineage commitment is a continuous process

(2017) Lars Velten et al.   NATURE CELL BIOLOGY

Single-cell RNA-seq reveals new types of human blood dendritic cells, monocytes, and progenitors

(2017) Alexandra-Chloé Villani et al.   SCIENCE

TGF-β Inhibition Rescues Hematopoietic Stem Cell Defects and Bone Marrow Failure in Fanconi Anemia

(2016) Haojian Zhang et al.   Cell Stem Cell

Dissecting the multicellular ecosystem of metastatic melanoma by single-cell RNA-seq

(2016) I. Tirosh et al.   SCIENCE

Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes

(2015) N. A. Zambetti et al.   HAEMATOLOGICA

A survey of human brain transcriptome diversity at the single cell level

(2015) Spyros Darmanis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes

(2015) N. A. Zambetti et al.   HAEMATOLOGICA

Variable Clinical Presentation of Shwachman–Diamond Syndrome: Update from the North American Shwachman–Diamond Syndrome Registry

(2014) Kasiani C. Myers et al.   JOURNAL OF PEDIATRICS

Deconstructing transcriptional heterogeneity in pluripotent stem cells

(2014) Roshan M. Kumar et al.   NATURE

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

The transcriptional architecture of early human hematopoiesis identifies multilevel control of lymphoid commitment

(2013) Elisa Laurenti et al.   NATURE IMMUNOLOGY

Smart-seq2 for sensitive full-length transcriptome profiling in single cells

(2013) Simone Picelli et al.   NATURE METHODS

Impaired ribosomal subunit association in Shwachman-Diamond syndrome

(2012) N. Burwick et al.   BLOOD

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

Full-length mRNA-Seq from single-cell levels of RNA and individual circulating tumor cells

(2012) Daniel Ramsköld et al.   NATURE BIOTECHNOLOGY

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

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

Advances in human proteomics at high scale with the SOMAscan proteomics platform

(2011) Larry Gold et al.   New Biotechnology

Isolation of Single Human Hematopoietic Stem Cells Capable of Long-Term Multilineage Engraftment

(2011) F. Notta et al.   SCIENCE

Reduced SMAD7 Leads to Overactivation of TGF-  Signaling in MDS that Can Be Reversed by a Specific Inhibitor of TGF-  Receptor I Kinase

(2010) L. Zhou et al.   CANCER RESEARCH

Distinct Hematopoietic Stem Cell Subtypes Are Differentially Regulated by TGF-β1

(2010) Grant A. Challen et al.   Cell Stem Cell

Clinical spectrum and molecular pathophysiology of Shwachman–Diamond syndrome

(2010) James N Huang et al.   CURRENT OPINION IN HEMATOLOGY

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

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