Published in J Biol Chem on February 08, 2005
Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev (2010) 3.24
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood (2006) 2.22
Powering through ribosome assembly. RNA (2009) 2.19
The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood (2005) 1.95
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The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood (2007) 1.69
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Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence. BMJ Case Rep (2012) 1.09
Eukaryotic rpL10 drives ribosomal rotation. Nucleic Acids Res (2013) 1.05
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. J Med Genet (2007) 0.94
Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein. BMC Struct Biol (2009) 0.94
Impaired ribosomal subunit association in Shwachman-Diamond syndrome. Blood (2012) 0.92
SBDS expression and localization at the mitotic spindle in human myeloid progenitors. PLoS One (2009) 0.92
Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. Curr Opin Hematol (2011) 0.90
Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome. Clin Exp Immunol (2008) 0.90
Mechanistic insight into eukaryotic 60S ribosomal subunit biogenesis by cryo-electron microscopy. RNA (2016) 0.89
Identification of archaeal proteins that affect the exosome function in vitro. BMC Biochem (2010) 0.83
The Saccharomyces cerevisiae Hot1p regulated gene YHR087W (HGI1) has a role in translation upon high glucose concentration stress. BMC Mol Biol (2012) 0.77
Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturation. Protein Cell (2016) 0.77
Role of Shwachman-Bodian-Diamond syndrome protein in translation machinery and cell chemotaxis: a comparative genomics approach. Adv Appl Bioinform Chem (2011) 0.77
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet (2014) 0.76
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. Am J Hum Genet (2016) 0.75
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. PLoS One (2011) 0.75
Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein. J Biol Chem (2015) 0.75
Active genes dynamically colocalize to shared sites of ongoing transcription. Nat Genet (2004) 9.57
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med (2007) 8.18
Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science (2008) 6.66
Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N Engl J Med (2010) 6.23
Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia. Nature (2010) 5.43
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr (2008) 5.19
Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet (2002) 4.62
Mammographic breast density as an intermediate phenotype for breast cancer. Lancet Oncol (2005) 3.99
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat Genet (2011) 3.02
Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6. Genes Dev (2010) 2.93
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet (2013) 2.91
A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome. Nat Med (2009) 2.89
Solution structure of the nonmethyl-CpG-binding CXXC domain of the leukaemia-associated MLL histone methyltransferase. EMBO J (2006) 2.89
Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Thorax (2011) 2.84
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet (2007) 2.58
Validation of treatment strategies for enterohaemorrhagic Escherichia coli O104:H4 induced haemolytic uraemic syndrome: case-control study. BMJ (2012) 2.32
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet (2005) 2.24
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04
Defective ribosome assembly in Shwachman-Diamond syndrome. Blood (2011) 1.97
Hematopoietic stem cell expansion and distinct myeloid developmental abnormalities in a murine model of the AML1-ETO translocation. Mol Cell Biol (2002) 1.89
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev (2011) 1.89
Genetic modifiers of liver disease in cystic fibrosis. JAMA (2009) 1.88
Gastrointestinal outcomes and confounders in cystic fibrosis. J Pediatr Gastroenterol Nutr (2005) 1.87
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. Nat Genet (2013) 1.83
What is cystic fibrosis? N Engl J Med (2002) 1.76
Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. Blood (2012) 1.68
Altered hematopoiesis in trisomy 21 as revealed through in vitro differentiation of isogenic human pluripotent cells. Proc Natl Acad Sci U S A (2012) 1.62
MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13. Proc Natl Acad Sci U S A (2011) 1.54
The Corfu deltabeta thalassemia deletion disrupts gamma-globin gene silencing and reveals post-transcriptional regulation of HbF expression. Blood (2004) 1.53
The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem (2005) 1.52
Failure of conventional strategies to improve nutritional status in malnourished adolescents and adults with cystic fibrosis. J Pediatr (2005) 1.47
A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation. Genome Res (2008) 1.44
Definitions of pediatric pancreatitis and survey of present clinical practices. J Pediatr Gastroenterol Nutr (2012) 1.43
Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis. Gastroenterology (2010) 1.33
Patterns of GI disease in adulthood associated with mutations in the CFTR gene. Gut (2007) 1.29
Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality. Mol Cell Biol (2006) 1.29
Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome. J Pediatr (2002) 1.26
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. Nat Genet (2012) 1.26
Mammographic density: a heritable risk factor for breast cancer. Methods Mol Biol (2009) 1.24
Analysis of cystic fibrosis gener product (CFTR) function in patients with pancreas divisum and recurrent acute pancreatitis. Am J Gastroenterol (2004) 1.23
Direct Costs of Acute Recurrent and Chronic Pancreatitis in Children in the INSPPIRE Registry. J Pediatr Gastroenterol Nutr (2016) 1.20
Prospective study of rabbit antithymocyte globulin and cyclosporine for aplastic anemia from the EBMT Severe Aplastic Anaemia Working Party. Blood (2012) 1.20
Structural consequences of nucleophosmin mutations in acute myeloid leukemia. J Biol Chem (2008) 1.18
Energetic contribution of residues in the Runx1 Runt domain to DNA binding. J Biol Chem (2003) 1.12
Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene. J Pediatr (2008) 1.10
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Hum Genet (2005) 1.08
Intergenic transcription, cell-cycle and the developmentally regulated epigenetic profile of the human beta-globin locus. PLoS One (2007) 1.07
Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gastroenterology (2004) 1.05
Developmental regulation of the beta-globin gene locus. Prog Mol Subcell Biol (2005) 1.03
Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses. Hum Mol Genet (2009) 1.02
Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. Gastroenterology (2012) 1.00
Intussusception in adults with cystic fibrosis: a case series with review of the literature. Dig Dis Sci (2011) 0.99
Shwachman-Diamond syndrome is associated with low-turnover osteoporosis. Bone (2007) 0.99
The mechanism of repression of the myeloid-specific c-fms gene by Pax5 during B lineage restriction. EMBO J (2006) 0.98
TLR5 as an anti-inflammatory target and modifier gene in cystic fibrosis. J Immunol (2010) 0.97
Genetic modifiers of cystic fibrosis-related diabetes. Diabetes (2013) 0.96
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. Hum Genet (2003) 0.95
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. J Cyst Fibros (2012) 0.95
The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood. J Pediatr (2009) 0.94
Human homologs of Ubc6p ubiquitin-conjugating enzyme and phosphorylation of HsUbc6e in response to endoplasmic reticulum stress. J Biol Chem (2006) 0.93
Long-term docosahexaenoic acid therapy in a congenic murine model of cystic fibrosis. Am J Physiol Gastrointest Liver Physiol (2006) 0.92
Pathophysiologic basis of exocrine pancreatic dysfunction in childhood. J Pediatr Gastroenterol Nutr (2002) 0.90
Mutagenesis of the Runt domain defines two energetic hot spots for heterodimerization with the core binding factor beta subunit. J Biol Chem (2003) 0.90
Pharmacologic approaches to correcting the basic defect in cystic fibrosis. N Engl J Med (2003) 0.89
New insights into 5q- syndrome as a ribosomopathy. Cell Cycle (2010) 0.89
Impact of lung transplantation on serum lipids in adults with cystic fibrosis. J Heart Lung Transplant (2011) 0.88
Towards the ideal quantitative pancreatic function test: analysis of test variables that influence validity. Clin Gastroenterol Hepatol (2006) 0.86
Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis. PLoS Genet (2012) 0.86
Characterization of RNA aptamers that disrupt the RUNX1-CBFbeta/DNA complex. Nucleic Acids Res (2009) 0.86
Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language? Thorax (2012) 0.85
Design and implementation of INSPPIRE. J Pediatr Gastroenterol Nutr (2014) 0.85
A genome-wide linkage study of mammographic density, a risk factor for breast cancer. Breast Cancer Res (2011) 0.83
Proper usage of pancreatic enzymes. Curr Opin Pulm Med (2002) 0.82
Breast cancer in a case of Shwachman Diamond syndrome. Pediatr Blood Cancer (2011) 0.82
The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function. J Pediatr (2009) 0.82
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. Blood (2009) 0.82
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. Blood (2008) 0.82
Ursodeoxycholic acid in cystic fibrosis-associated liver disease. J Cyst Fibros (2011) 0.81
Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome. J Pediatr Gastroenterol Nutr (2010) 0.79
Nutritional management of cystic fibrosis patients. Curr Opin Clin Nutr Metab Care (2007) 0.79
Enteric-coated pancreatic enzyme with bicarbonate is equal to standard enteric-coated enzyme in treating malabsorption in cystic fibrosis. J Pediatr Gastroenterol Nutr (2006) 0.79
Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease. Chest (2012) 0.79
Combining unprotected pancreatic enzymes with pH-sensitive enteric-coated microspheres does not improve nutrient digestion in patients with cystic fibrosis. J Pediatr (2005) 0.78
Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. Eur J Hum Genet (2002) 0.78
Abdominal pain in adults with cystic fibrosis. Eur J Gastroenterol Hepatol (2014) 0.77