Published in Proc Natl Acad Sci U S A on December 01, 2006
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet (2009) 5.32
Dimorphic effects of Notch signaling in bone homeostasis. Nat Med (2008) 2.82
Cartilage homeostasis in health and rheumatic diseases. Arthritis Res Ther (2009) 2.44
Hypertrophic chondrocytes can become osteoblasts and osteocytes in endochondral bone formation. Proc Natl Acad Sci U S A (2014) 2.35
NF-kappaB signaling: multiple angles to target OA. Curr Drug Targets (2010) 1.89
Roles of inflammatory and anabolic cytokines in cartilage metabolism: signals and multiple effectors converge upon MMP-13 regulation in osteoarthritis. Eur Cell Mater (2011) 1.84
Decellularized Wharton's Jelly from human umbilical cord as a novel 3D scaffolding material for tissue engineering applications. PLoS One (2017) 1.40
Unraveling the transcriptional regulatory machinery in chondrogenesis. J Bone Miner Metab (2011) 1.34
Transcriptional regulation of osteoblasts. Cells Tissues Organs (2008) 1.34
miRNA-34c regulates Notch signaling during bone development. Hum Mol Genet (2012) 1.31
Reduced sox9 function promotes heart valve calcification phenotypes in vivo. Circ Res (2010) 1.30
Vertebrate skeletogenesis. Curr Top Dev Biol (2010) 1.30
Chondrogenesis, chondrocyte differentiation, and articular cartilage metabolism in health and osteoarthritis. Ther Adv Musculoskelet Dis (2012) 1.23
Sox9 directly promotes Bapx1 gene expression to repress Runx2 in chondrocytes. Exp Cell Res (2009) 1.21
The Yin and Yang of Sox proteins: Activation and repression in development and disease. J Neurosci Res (2009) 1.20
A pathway to bone: signaling molecules and transcription factors involved in chondrocyte development and maturation. Development (2015) 1.19
The Role of RUNX2 in Osteosarcoma Oncogenesis. Sarcoma (2010) 1.18
Signals and switches in Mammalian neural crest cell differentiation. Cold Spring Harb Perspect Biol (2013) 1.17
SOX9 governs differentiation stage-specific gene expression in growth plate chondrocytes via direct concomitant transactivation and repression. PLoS Genet (2011) 1.16
Fibronectin and stem cell differentiation - lessons from chondrogenesis. J Cell Sci (2012) 1.15
Transcriptional regulatory cascades in Runx2-dependent bone development. Tissue Eng Part B Rev (2012) 1.10
Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome. Hum Mol Genet (2008) 1.08
TGF-beta mediated Dlx5 signaling plays a crucial role in osteo-chondroprogenitor cell lineage determination during mandible development. Dev Biol (2008) 1.07
Evidence for pleiotropic factors in genetics of the musculoskeletal system. Bone (2010) 1.06
SOX9 gene transfer via safe, stable, replication-defective recombinant adeno-associated virus vectors as a novel, powerful tool to enhance the chondrogenic potential of human mesenchymal stem cells. Stem Cell Res Ther (2012) 1.06
Genome plasticity of Vibrio parahaemolyticus: microevolution of the 'pandemic group'. BMC Genomics (2008) 1.05
Targeting Runx2 expression in hypertrophic chondrocytes impairs endochondral ossification during early skeletal development. J Cell Physiol (2012) 0.99
Localization of the cis-enhancer element for mouse type X collagen expression in hypertrophic chondrocytes in vivo. J Bone Miner Res (2009) 0.99
Adenomatous polyposis coli-mediated control of beta-catenin is essential for both chondrogenic and osteogenic differentiation of skeletal precursors. BMC Dev Biol (2009) 0.99
The transcription factors SOX9 and SOX5/SOX6 cooperate genome-wide through super-enhancers to drive chondrogenesis. Nucleic Acids Res (2015) 0.99
PW1 gene/paternally expressed gene 3 (PW1/Peg3) identifies multiple adult stem and progenitor cell populations. Proc Natl Acad Sci U S A (2011) 0.96
Refined QTLs of osteoporosis-related traits by linkage analysis with genome-wide SNPs: Framingham SHARe. Bone (2010) 0.95
Sox9 transcriptionally represses Spp1 to prevent matrix mineralization in maturing heart valves and chondrocytes. PLoS One (2011) 0.95
UDP xylose synthase 1 is required for morphogenesis and histogenesis of the craniofacial skeleton. Dev Biol (2010) 0.94
Runx2 regulates endochondral ossification through control of chondrocyte proliferation and differentiation. J Bone Miner Res (2014) 0.93
Lef1DeltaN binds beta-catenin and increases osteoblast activity and trabecular bone mass. J Biol Chem (2011) 0.92
Generation of transgenic mice for conditional overexpression of Sox9. J Bone Miner Metab (2010) 0.91
Role of LRF/Pokemon in lineage fate decisions. Blood (2013) 0.90
Evolution of the osteoblast: skeletogenesis in gar and zebrafish. BMC Evol Biol (2012) 0.90
TIEG1/KLF10 modulates Runx2 expression and activity in osteoblasts. PLoS One (2011) 0.88
Concerted stimuli regulating osteo-chondral differentiation from stem cells: phenotype acquisition regulated by microRNAs. Acta Pharmacol Sin (2009) 0.88
A subset of osteoblasts expressing high endogenous levels of PPARgamma switches fate to adipocytes in the rat calvaria cell culture model. PLoS One (2010) 0.87
Twist1 mediates repression of chondrogenesis by β-catenin to promote cranial bone progenitor specification. Development (2012) 0.87
Mitogen-activated protein kinase (MAPK)-regulated interactions between Osterix and Runx2 are critical for the transcriptional osteogenic program. J Biol Chem (2014) 0.87
Ectopic expression of SOX9 in osteoblasts alters bone mechanical properties. Calcif Tissue Int (2011) 0.85
Putative function of TAP63α during endochondral bone formation. Gene (2012) 0.85
Controlling stem cell-mediated bone regeneration through tailored mechanical properties of collagen scaffolds. Biomaterials (2013) 0.84
Involvement of SOX-9 and FGF-23 in RUNX-2 regulation in osteoarthritic chondrocytes. J Cell Mol Med (2009) 0.84
In vitro osteogenic potential of human mesenchymal stem cells is predicted by Runx2/Sox9 ratio. Tissue Eng Part A (2014) 0.84
Sequential and coordinated actions of c-Myc and N-Myc control appendicular skeletal development. PLoS One (2011) 0.83
Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice. J Bone Miner Res (2012) 0.83
Isolation and characterization of a novel plasma membrane protein, osteoblast induction factor (obif), associated with osteoblast differentiation. BMC Dev Biol (2009) 0.83
Distinct function of P63 isoforms during embryonic skeletal development. Gene (2013) 0.83
Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders. J Bone Miner Res (2014) 0.82
Notch Receptor-Ligand Engagement Maintains Hematopoietic Stem Cell Quiescence and Niche Retention. Stem Cells (2015) 0.81
Mutant activated FGFR3 impairs endochondral bone growth by preventing SOX9 downregulation in differentiating chondrocytes. Hum Mol Genet (2014) 0.81
Indian hedgehog signaling regulates transcription and expression of collagen type X via Runx2/Smads interactions. J Biol Chem (2014) 0.81
Expression of osterix inhibits bone morphogenetic protein-induced chondrogenic differentiation of mesenchymal progenitor cells. J Bone Miner Metab (2008) 0.81
The transcriptional co-regulator Jab1 is crucial for chondrocyte differentiation in vivo. J Cell Sci (2012) 0.81
Where did bone come from? Acta Orthop (2011) 0.81
Mesenchymal stem-cell potential in cartilage repair: an update. J Cell Mol Med (2014) 0.80
GATA4 negatively regulates osteoblast differentiation by downregulation of Runx2. BMB Rep (2014) 0.80
Osteochondral tissue regeneration through polymeric delivery of DNA encoding for the SOX trio and RUNX2. Acta Biomater (2014) 0.80
Multifaceted signaling regulators of chondrogenesis: Implications in cartilage regeneration and tissue engineering. Genes Dis (2015) 0.80
A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation. J Bone Miner Res (2015) 0.79
Valve Endothelial Cell-Derived Tgfβ1 Signaling Promotes Nuclear Localization of Sox9 in Interstitial Cells Associated With Attenuated Calcification. Arterioscler Thromb Vasc Biol (2015) 0.79
Cadherin-11 Overexpression Induces Extracellular Matrix Remodeling and Calcification in Mature Aortic Valves. Arterioscler Thromb Vasc Biol (2016) 0.79
SOX9 and the many facets of its regulation in the chondrocyte lineage. Connect Tissue Res (2016) 0.78
Genomic regions associated with kyphosis in swine. BMC Genet (2010) 0.78
Suppression of chondrogenesis by Id helix-loop-helix proteins in murine embryonic orofacial tissue. Differentiation (2009) 0.78
RUNX3, EGR1 and SOX9B form a regulatory cascade required to modulate BMP-signaling during cranial cartilage development in zebrafish. PLoS One (2012) 0.78
AP-1 family members act with Sox9 to promote chondrocyte hypertrophy. Development (2016) 0.78
Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes. J Biol Chem (2009) 0.78
Making no bones about it: Transcription factors in vertebrate skeletogenesis and disease. Trends Dev Biol (2012) 0.78
Col10a1-Runx2 transgenic mice with delayed chondrocyte maturation are less susceptible to developing osteoarthritis. Am J Transl Res (2014) 0.77
Low-frequency, low-magnitude vibrations (LFLM) enhances chondrogenic differentiation potential of human adipose derived mesenchymal stromal stem cells (hASCs). PeerJ (2016) 0.77
On the evolutionary relationship between chondrocytes and osteoblasts. Front Genet (2015) 0.77
Sox9 reprogrammed dermal fibroblasts undergo hypertrophic differentiation in vitro and trigger endochondral ossification in vivo. Cell Reprogram (2014) 0.77
Dioxin disrupts cranial cartilage and dermal bone development in zebrafish larvae. Aquat Toxicol (2015) 0.76
Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs. Mol Genet Metab (2015) 0.75
Smpd3 Expression in both Chondrocytes and Osteoblasts Is Required for Normal Endochondral Bone Development. Mol Cell Biol (2016) 0.75
A Qualitative Model of the Differentiation Network in Chondrocyte Maturation: A Holistic View of Chondrocyte Hypertrophy. PLoS One (2016) 0.75
Loss of jab1 in osteochondral progenitor cells severely impairs embryonic limb development in mice. J Cell Physiol (2014) 0.75
GATA4 negatively regulates bone sialoprotein expression in osteoblasts. BMB Rep (2016) 0.75
Articular cartilage tissue engineering: the role of signaling molecules. Cell Mol Life Sci (2016) 0.75
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. J Clin Invest (2017) 0.75
The Signaling Pathways Involved in Chondrocyte Differentiation and Hypertrophic Differentiation. Stem Cells Int (2016) 0.75
Differential expression of TGF-β superfamily members and role of Smad1/5/9-signalling in chondral versus endochondral chondrocyte differentiation. Sci Rep (2016) 0.75
High pressure may inhibit periprosthetic osteogenesis. J Bone Miner Metab (2009) 0.75
COUP-TFII is required for morphogenesis of the neural crest-derived tympanic ring. Sci Rep (2017) 0.75
Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell (1997) 18.91
Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation. Cell (1997) 16.78
Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell (1997) 13.53
The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6. Genes Dev (2002) 8.19
Reaching a genetic and molecular understanding of skeletal development. Dev Cell (2002) 7.55
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell (1997) 7.47
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell (1994) 7.39
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30
Histone deacetylase 4 controls chondrocyte hypertrophy during skeletogenesis. Cell (2004) 5.80
SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene. Mol Cell Biol (1997) 5.72
A twist code determines the onset of osteoblast differentiation. Dev Cell (2004) 5.40
Woodchuck hepatitis virus posttranscriptional regulatory element enhances expression of transgenes delivered by retroviral vectors. J Virol (1999) 5.35
Interactions between Sox9 and beta-catenin control chondrocyte differentiation. Genes Dev (2004) 4.78
Two distinct osteoblast-specific cis-acting elements control expression of a mouse osteocalcin gene. Mol Cell Biol (1995) 4.28
Osteo-chondroprogenitor cells are derived from Sox9 expressing precursors. Proc Natl Acad Sci U S A (2005) 4.25
Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization. Proc Natl Acad Sci U S A (2001) 4.13
A Cbfa1-dependent genetic pathway controls bone formation beyond embryonic development. Genes Dev (1999) 3.88
Runx2 and Runx3 are essential for chondrocyte maturation, and Runx2 regulates limb growth through induction of Indian hedgehog. Genes Dev (2004) 3.33
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet (1997) 3.20
Separate cis-acting DNA elements of the mouse pro-alpha 1(I) collagen promoter direct expression of reporter genes to different type I collagen-producing cells in transgenic mice. J Cell Biol (1995) 3.16
Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo. J Cell Biol (2003) 2.31
Transcriptional mechanisms in osteoblast differentiation and bone formation. Trends Genet (2003) 2.23
Runx2: a master organizer of gene transcription in developing and maturing osteoblasts. Birth Defects Res C Embryo Today (2005) 1.84
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet (1999) 1.72
Hierarchy revealed in the specification of three skeletal fates by Sox9 and Runx2. Dev Biol (2004) 1.29
Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet (2005) 1.27
Overlapping expression of Runx1(Cbfa2) and Runx2(Cbfa1) transcription factors supports cooperative induction of skeletal development. J Cell Physiol (2005) 1.20
The high mobility group transcription factor Sox8 is a negative regulator of osteoblast differentiation. J Cell Biol (2005) 1.19
Possible roles of Runx1 and Sox9 in incipient intramembranous ossification. J Bone Miner Res (2004) 0.96
Coat color-tagged green mouse with EGFP expressed from the RNA polymerase II promoter. Genesis (2004) 0.95
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
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med (2006) 2.97
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med (2013) 2.91
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
Early use of noninvasive positive pressure ventilation for acute lung injury: a multicenter randomized controlled trial. Crit Care Med (2012) 2.43
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
Combination therapy of prednisone and ACE inhibitor versus ACE-inhibitor therapy alone in patients with IgA nephropathy: a randomized controlled trial. Am J Kidney Dis (2008) 2.31
Targeted deletion of microRNA-22 promotes stress-induced cardiac dilation and contractile dysfunction. Circulation (2012) 2.14
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab (2010) 2.07
Common genetic variants of the human uromodulin gene regulate transcription and predict plasma uric acid levels. Kidney Int (2013) 2.05
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
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest (2005) 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
Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res (2011) 1.83
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81
Glutamine: precursor or nitrogen donor for citrulline synthesis? Am J Physiol Endocrinol Metab (2010) 1.78
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors. Mol Ther (2007) 1.69
Chromogranin A polymorphisms are associated with hypertensive renal disease. J Am Soc Nephrol (2008) 1.68
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet (2009) 1.59
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
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
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. Pediatr Radiol (2004) 1.52
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet C Semin Med Genet (2006) 1.52
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Adrenergic beta-1 receptor genetic variation predicts longitudinal rate of GFR decline in hypertensive nephrosclerosis. Nephrol Dial Transplant (2009) 1.49
Coordinated and unique functions of the E-selectin ligand ESL-1 during inflammatory and hematopoietic recruitment in mice. Blood (2013) 1.49
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet (2012) 1.46
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
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
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet (2006) 1.34
miRNA-34c regulates Notch signaling during bone development. Hum Mol Genet (2012) 1.31
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr (2004) 1.30
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
GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet (2006) 1.24
Urea cycle disorders: clinical presentation outside the newborn period. Crit Care Clin (2005) 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
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A (2006) 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
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. Am J Hum Genet (2008) 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
Proteoglycan 4 expression protects against the development of osteoarthritis. Sci Transl Med (2013) 1.14
Infantile hypotonia as a presentation of Rett syndrome. Am J Med Genet (2002) 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
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
Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J Clin Invest (2014) 1.13
Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus. Mol Ther (2004) 1.12
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A (2010) 1.12
Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation. Mol Genet Metab (2005) 1.11
Neonatal helper-dependent adenoviral vector gene therapy mediates correction of hemophilia A and tolerance to human factor VIII. Proc Natl Acad Sci U S A (2011) 1.11
Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector. Mol Ther (2009) 1.10
Immune response to helper dependent adenoviral mediated liver gene therapy: challenges and prospects. Curr Gene Ther (2007) 1.09
Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006). Am J Med Genet A (2007) 1.09
Type XXVII collagen at the transition of cartilage to bone during skeletogenesis. Bone (2007) 1.09
Chemoresistance to gemcitabine in hepatoma cells induces epithelial-mesenchymal transition and involves activation of PDGF-D pathway. Oncotarget (2013) 1.09
Renal albumin excretion: twin studies identify influences of heredity, environment, and adrenergic pathway polymorphism. Hypertension (2007) 1.09
Signaling pathways in human skeletal dysplasias. Annu Rev Genomics Hum Genet (2010) 1.09
Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. Cell Signal (2008) 1.08
Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome. Hum Mol Genet (2008) 1.08