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11/2009
Anemia occurs in 60% of patients with Shwachman Diamond Syndrome (SDS). Although bi-allelic mutations in SBDS cause SDS, it is unclear whether SBDS is critical... 
Erythropoiesis | 0379 | Shwachman Diamond Syndrome
Dissertation
British Journal of Haematology, ISSN 0007-1048, 03/2019, Volume 184, Issue 5, pp. 710 - 711
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2017, Volume 376, Issue 6, pp. 536 - 547
Journal Article
BRITISH JOURNAL OF HAEMATOLOGY, ISSN 0007-1048, 07/2018, Volume 182, Issue 1, pp. 114 - 124
Shwachman-Diamond syndrome (SDS) is a rare multi-organ recessive disease mainly characterised by pancreatic insufficiency, skeletal defects, short stature and... 
PECAM-1 | Shwachman-Diamond syndrome | STEM-CELLS | childhood | MICROENVIRONMENT | angiogenesis | mesenchymal stromal cells | bone marrow niche | HEMATOLOGY | BRAIN | PERICYTES
Journal Article
ISSN 2212-4926, 2018
Mutations that target the ubiquitous process of ribosome assembly paradoxically cause diverse tissue-specific disorders (ribosomopathies) that are often... 
SBDS | ribosome | Shwachman-Diamond syndrome | eIF6 | DNAJC21 | myelodysplastic syndromes
Journal Article
Nature, ISSN 0028-0836, 04/2010, Volume 464, Issue 7290, pp. 852 - 857
Journal Article
Haematologica, ISSN 0390-6078, 01/2018, Volume 103, Issue 1, pp. 30 - 39
The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrollspatients with the four major syndromes: Fanconi anemia, dyskeratosis... 
BLACKFAN ANEMIA | CLINICAL PRESENTATION | FANCONI-ANEMIA REGISTRY | DYSKERATOSIS-CONGENITA | HUMAN-PAPILLOMAVIRUS | SHWACHMAN-DIAMOND-SYNDROME | SQUAMOUS-CELL CARCINOMAS | BIALLELIC MUTATIONS | HEMATOLOGY | TELOMERE LENGTH | TRANSPLANTATION
Journal Article
by Li, Xin and Kim, Yungil and Tsang, Emily K and Davis, Joe R and Damani, Farhan N and Chiang, Colby and Hess, Gaelen T and Zappala, Zachary and Strober, Benjamin J and Scott, Alexandra J and Li, Amy and Ganna, Andrea and Bassik, Michael C and Merker, Jason D and Aguet, François and Ardlie, Kristin G and Cummings, Beryl B and Gelfand, Ellen T and Getz, Gad and Hadley, Kane and Handsaker, Robert E and Huang, Katherine H and Kashin, Seva and Karczewski, Konrad J and Lek, Monkol and Li, Xiao and MacArthur, Daniel G and Nedzel, Jared L and Nguyen, Duyen T and Noble, Michael S and Segrè, Ayellet V and Trowbridge, Casandra A and Tukiainen, Taru and Abell, Nathan S and Balliu, Brunilda and Barshir, Ruth and Basha, Omer and Bogu, Gireesh K and Brown, Andrew and Brown, Christopher D and Castel, Stephane E and Chen, Lin S and Conrad, Donald F and Cox, Nancy J and Delaneau, Olivier and Dermitzakis, Emmanouil T and Engelhardt, Barbara E and Eskin, Eleazar and Ferreira, Pedro G and Frésard, Laure and Gamazon, Eric R and Garrido-Martín, Diego and Gewirtz, Ariel D.H and Gliner, Genna and Gloudemans, Michael J and Guigo, Roderic and Hall, Ira M and Han, Buhm and He, Yuan and Hormozdiari, Farhad and Howald, Cedric and Im, Hae Kyung and Jo, Brian and Kang, Eun Yong and Kim-Hellmuth, Sarah and Lappalainen, Tuuli and Li, Gen and Liu, Boxiang and Mangul, Serghei and McCarthy, Mark I and McDowell, Ian C and Mohammadi, Pejman and Monlong, Jean and Muñoz-Aguirre, Manuel and Ndungu, Anne W and Nicolae, Dan L and Nobel, Andrew B and Oliva, Meritxell and Ongen, Halit and Palowitch, John J and Panousis, Nikolaos and Papasaikas, Panagiotis and Park, Yoson and Parsana, Princy and Payne, Anthony J and Peterson, Christine B and Quan, Jie and Reverter, Ferran and Sabatti, Chiara and Saha, Ashis and Sammeth, Michael and Shabalin, Andrey A and Sodaei, Reza and Stephens, Matthew and Stranger, Barbara E and Sul, Jae Hoon and Urbut, Sarah and Van De Bunt, Martijn and Wang, Gao and Wen, Xiaoquan and ... and GTEx Consortium and Leidos Biomedical—Project Management and NIH/NCI and Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group and Statistical Methods groups—Analysis Working Group and Biospecimen Collection Source Site—NDRI and NIH/NHGRI and Brain Bank Repository—University of Miami Brain Endowment Bank and Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz and NIH Common Fund and Enhancing GTEx (eGTEx) groups and NIH/NIMH and Genome Browser Data Integration &Visualization—EBI and Biospecimen Collection Source Site—RPCI and Biospecimen Core Resource—VARI and ELSI Study and NIH/NIDA
Nature, ISSN 0028-0836, 10/2017, Volume 550, Issue 7675, pp. 239 - 243
Journal Article
Cell Stem Cell, ISSN 1934-5909, 11/2016, Volume 19, Issue 5, pp. 613 - 627
Mesenchymal niche cells may drive tissue failure and malignant transformation in the hematopoietic system, but the underlying molecular mechanisms and... 
microenvironment | leukemia | inflammation | mesenchymal | hematopoietic stem cell | shwachman-diamond syndrome | niche | cancer | myelodysplastic syndrome (MDS) | S100A8 | PROGENITOR CELLS | OXIDATIVE DNA-DAMAGE | GENE | SBDS | MUTATIONS | SHWACHMAN-DIAMOND-SYNDROME | MYELODYSPLASTIC CELLS | STROMAL CELLS | EXPRESSION | DEFICIENCY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Bone and Bones - pathology | Inflammation - pathology | Leukemia - pathology | Oxidative Stress | Humans | Hematopoietic Stem Cells - pathology | Precancerous Conditions - metabolism | Leukemia - metabolism | S100 Proteins - genetics | Lipomatosis - pathology | Gene Deletion | Integrases - metabolism | Precancerous Conditions - pathology | Toll-Like Receptors - metabolism | Stem Cell Niche | Pathogen-Associated Molecular Pattern Molecules - metabolism | Signal Transduction | Exocrine Pancreatic Insufficiency - pathology | Risk Factors | Tumor Suppressor Protein p53 - metabolism | Mesenchymal Stromal Cells - metabolism | S100 Proteins - metabolism | Treatment Outcome | Hematopoietic Stem Cells - metabolism | Mitochondria - metabolism | Bone Marrow Diseases - pathology | Disease Progression | Transcription Factors - metabolism | Animals | Proteins - metabolism | DNA Repair | Sp7 Transcription Factor | Mice | DNA Damage | Mesenchymal Stromal Cells - pathology | Bone and Bones - abnormalities | Index Medicus
Journal Article
Science, ISSN 0036-8075, 11/2011, Volume 334, Issue 6058, pp. 941 - 948
Protein synthesis in all organisms is catalyzed by ribosomes. In comparison to their prokaryotic counterparts, eukaryotic ribosomes are considerably larger and... 
Proteins | Yeasts | RESEARCH ARTICLE | RNA | Ribosomal proteins | Antibiotics | Protein synthesis | Ribosomes | Tunnels | Transfer RNA | Crystal structure | CYCLOHEXIMIDE RESISTANCE | EXIT TUNNEL | YEAST | BLACKFAN ANEMIA | PROTEIN | MESSENGER-RNA | MULTIDISCIPLINARY SCIENCES | SHWACHMAN-DIAMOND SYNDROME | TRANSLATION ELONGATION | TRANSFER-RNA | 80S RIBOSOME | Ribosomal Proteins - chemistry | Ribosome Subunits, Large, Eukaryotic - ultrastructure | RNA, Ribosomal, 5.8S - chemistry | Tetrahymena thermophila - chemistry | Molecular Sequence Data | Crystallography, X-Ray | RNA, Ribosomal, 5.8S - metabolism | Peptide Chain Initiation, Translational | Ribosomal Proteins - metabolism | Protozoan Proteins - metabolism | Ribosome Subunits, Large, Eukaryotic - metabolism | Base Sequence | Protozoan Proteins - chemistry | Nucleic Acid Conformation | Binding Sites | Eukaryotic Initiation Factors - chemistry | Eukaryotic Initiation Factors - metabolism | Protein Structure, Secondary | Ribosome Subunits, Large, Eukaryotic - chemistry | Tetrahymena thermophila - metabolism | RNA, Ribosomal - chemistry | Crystallization | Models, Molecular | RNA, Ribosomal - metabolism | Anti-Bacterial Agents - metabolism | Cycloheximide - metabolism | RNA, Protozoan - chemistry | RNA, Protozoan - metabolism | Protein Conformation | Physiological aspects | Protein biosynthesis | Research | Structure | Ribonucleic acid--RNA | Eukaryotes | Index Medicus
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 09/2018, Volume 7, Issue 3, pp. 117 - 121
Abstract We present a patient with failure to thrive and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed... 
Case Report | compound heterozygous | SBDS gene | hypotonia | Shwachman–Diamond syndrome
Journal Article