Published in Matrix Biol on September 19, 2005
Type XXVII collagen at the transition of cartilage to bone during skeletogenesis. Bone (2007) 1.09
Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression. BMC Genomics (2007) 0.99
Selenoprotein M is expressed during bone development. EXCLI J (2013) 0.75
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell (2006) 4.10
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med (2006) 2.97
Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab (2008) 2.90
Dimorphic effects of Notch signaling in bone homeostasis. Nat Med (2008) 2.82
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat (2008) 2.66
Cytoglobin: a novel globin type ubiquitously expressed in vertebrate tissues. Mol Biol Evol (2002) 2.53
Neuroglobin and cytoglobin. Fresh blood for the vertebrate globin family. EMBO Rep (2002) 2.50
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology (2013) 2.32
Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo. J Cell Biol (2003) 2.31
Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A (2006) 2.23
Inhibition of dipeptidyl peptidase-4 reduces glycemia, sustains insulin levels, and reduces glucagon levels in type 2 diabetes. J Clin Endocrinol Metab (2004) 2.21
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
Targeted deletion of microRNA-22 promotes stress-induced cardiac dilation and contractile dysfunction. Circulation (2012) 2.14
Comparison of vildagliptin and rosiglitazone monotherapy in patients with type 2 diabetes: a 24-week, double-blind, randomized trial. Diabetes Care (2007) 2.11
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab (2010) 2.07
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
Efficacy and tolerability of vildagliptin monotherapy in drug-naïve patients with type 2 diabetes. Diabetes Res Clin Pract (2007) 2.04
International REgistry to assess medical Practice with lOngitudinal obseRvation for Treatment of Heart Failure (REPORT-HF): rationale for and design of a global registry. Eur J Heart Fail (2015) 2.03
TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i. Proc Natl Acad Sci U S A (2003) 2.01
Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency? Mol Genet Metab (2009) 1.96
Determinants of vascular permeability in the kidney glomerulus. J Biol Chem (2002) 1.93
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr (2008) 1.86
How does the eye breathe? Evidence for neuroglobin-mediated oxygen supply in the mammalian retina. J Biol Chem (2002) 1.85
Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res (2011) 1.83
Glutamine: precursor or nitrogen donor for citrulline synthesis? Am J Physiol Endocrinol Metab (2010) 1.78
Twelve- and 52-week efficacy of the dipeptidyl peptidase IV inhibitor LAF237 in metformin-treated patients with type 2 diabetes. Diabetes Care (2004) 1.75
Human brain neuroglobin structure reveals a distinct mode of controlling oxygen affinity. Structure (2003) 1.75
Risk of coronary artery disease associated with polymorphism of the cytochrome P450 epoxygenase CYP2J2. Circulation (2004) 1.73
Vildagliptin enhances islet responsiveness to both hyper- and hypoglycemia in patients with type 2 diabetes. J Clin Endocrinol Metab (2009) 1.72
Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors. Mol Ther (2007) 1.69
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet (2008) 1.68
What is the function of neuroglobin? J Exp Biol (2009) 1.65
Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. Proc Natl Acad Sci U S A (2005) 1.65
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability. Hum Mol Genet (2007) 1.64
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet (2006) 1.63
Inhibition of DPP-4 with vildagliptin improved insulin secretion in response to oral as well as "isoglycemic" intravenous glucose without numerically changing the incretin effect in patients with type 2 diabetes. J Clin Endocrinol Metab (2011) 1.59
ESTAnnotator: A tool for high throughput EST annotation. Nucleic Acids Res (2003) 1.56
Notch signaling contributes to the pathogenesis of human osteosarcomas. Hum Mol Genet (2009) 1.56
The genome of self-complementary adeno-associated viral vectors increases Toll-like receptor 9-dependent innate immune responses in the liver. Blood (2011) 1.56
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Cytoglobin is a respiratory protein in connective tissue and neurons, which is up-regulated by hypoxia. J Biol Chem (2003) 1.54
Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat Med (2011) 1.54
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res (2011) 1.53
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet C Semin Med Genet (2006) 1.52
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab (2004) 1.50
Coordinated and unique functions of the E-selectin ligand ESL-1 during inflammatory and hematopoietic recruitment in mice. Blood (2013) 1.49
Of mice and models: improved animal models for biomedical research. Physiol Genomics (2002) 1.49
The redox state of the cell regulates the ligand binding affinity of human neuroglobin and cytoglobin. J Biol Chem (2003) 1.47
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45
The natural history of severe anemia in cartilage-hair hypoplasia. Am J Med Genet A (2005) 1.44
Cytokine-conditioned dendritic cells induce humoral tolerance to protein therapy in mice. Hum Gene Ther (2012) 1.44
An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency. Pediatrics (2002) 1.43
Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin (2005) 1.42
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet (2005) 1.40
Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet (2013) 1.39
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet (2012) 1.39
Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. J Clin Invest (2002) 1.39
Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate. J Pediatr (2013) 1.38
Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector. Proc Natl Acad Sci U S A (2005) 1.36
Spiralian phylogenomics supports the resurrection of Bryozoa comprising Ectoprocta and Entoprocta. Mol Biol Evol (2007) 1.35
Improved meal-related beta-cell function and insulin sensitivity by the dipeptidyl peptidase-IV inhibitor vildagliptin in metformin-treated patients with type 2 diabetes over 1 year. Diabetes Care (2005) 1.34
New phylogenomic data support the monophyly of Lophophorata and an Ectoproct-Phoronid clade and indicate that Polyzoa and Kryptrochozoa are caused by systematic bias. BMC Evol Biol (2013) 1.32
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr (2004) 1.30
A globin gene of ancient evolutionary origin in lower vertebrates: evidence for two distinct globin families in animals. Mol Biol Evol (2004) 1.28
Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype. Pharmacogenet Genomics (2011) 1.27
Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet (2005) 1.27
Osteosclerosis owing to Notch gain of function is solely Rbpj-dependent. J Bone Miner Res (2010) 1.25
Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet (2007) 1.24
Urea cycle disorders: clinical presentation outside the newborn period. Crit Care Clin (2005) 1.23
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet (2012) 1.23
Suppression of neuropil aggregates and neurological symptoms by an intracellular antibody implicates the cytoplasmic toxicity of mutant huntingtin. J Cell Biol (2008) 1.22
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A (2010) 1.20
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet (2005) 1.19
Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood (2008) 1.19
NOTCHing the bone: insights into multi-functionality. Bone (2009) 1.19
Correction of murine hemophilia A and immunological differences of factor VIII variants delivered by helper-dependent adenoviral vectors. Mol Ther (2007) 1.18
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A (2010) 1.17
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Mol Genet Metab (2009) 1.17
Neuroglobin: a respiratory protein of the nervous system. News Physiol Sci (2004) 1.16
Characterization of the influence of vildagliptin on model-assessed -cell function in patients with type 2 diabetes and mild hyperglycemia. J Clin Endocrinol Metab (2007) 1.16
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet (2008) 1.15
Hypoxia induces a complex response of globin expression in zebrafish (Danio rerio). J Exp Biol (2006) 1.13
A novel myosin heavy chain gene in human chromosome 19q13.3. Gene (2003) 1.13
Infantile hypotonia as a presentation of Rett syndrome. Am J Med Genet (2002) 1.13
Minimizing the risk of hypoglycemia with vildagliptin: Clinical experience, mechanistic basis, and importance in type 2 diabetes management. Diabetes Ther (2011) 1.13
Interaction of TGFβ and BMP signaling pathways during chondrogenesis. PLoS One (2011) 1.13
Inborn errors of metabolism: the flux from Mendelian to complex diseases. Nat Rev Genet (2006) 1.13
aP2-Cre-mediated inactivation of acetyl-CoA carboxylase 1 causes growth retardation and reduced lipid accumulation in adipose tissues. Proc Natl Acad Sci U S A (2009) 1.13
Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J Clin Invest (2014) 1.13