Published in Arthritis Rheum on May 01, 2010
Cartilage biology in osteoarthritis--lessons from developmental biology. Nat Rev Rheumatol (2011) 1.19
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. Clin Orthop Relat Res (2011) 1.12
Role of proopiomelanocortin-derived peptides and their receptors in the osteoarticular system: from basic to translational research. Endocr Rev (2012) 0.91
Gene expression profile analysis of human intervertebral disc degeneration. Genet Mol Biol (2013) 0.77
A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity. Hum Genome Var (2016) 0.75
Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report. J Med Case Rep (2014) 0.75
Premature arthritis is a distinct type II collagen phenotype: comment on the article by Kannu et al. Arthritis Rheum (2011) 0.75
An integrated semiconductor device enabling non-optical genome sequencing. Nature (2011) 20.85
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet (2004) 4.09
Osteopetrosis. Orphanet J Rare Dis (2009) 3.69
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet (2004) 2.65
Proton-pump inhibitors and hypomagnesemic hypoparathyroidism. N Engl J Med (2006) 2.22
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function. PLoS Biol (2007) 1.82
The circadian clock in murine chondrocytes regulates genes controlling key aspects of cartilage homeostasis. Arthritis Rheum (2013) 1.82
Complexes of matrilin-1 and biglycan or decorin connect collagen VI microfibrils to both collagen II and aggrecan. J Biol Chem (2003) 1.72
Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health (2011) 1.70
Retracted Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. JAMA (2007) 1.69
Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology (2006) 1.66
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet (2011) 1.66
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. Hum Mol Genet (2003) 1.59
Autophagic elimination of misfolded procollagen aggregates in the endoplasmic reticulum as a means of cell protection. Mol Biol Cell (2009) 1.55
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet (2004) 1.51
Treg depletion inhibits efficacy of cancer immunotherapy: implications for clinical trials. PLoS One (2008) 1.49
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Hum Mutat (2005) 1.46
Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol (2011) 1.41
Development in children with achondroplasia: a prospective clinical cohort study. Dev Med Child Neurol (2012) 1.40
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34
The sphingosine 1-phosphate receptor agonist FTY720 differentially affects the sequestration of CD4+/CD25+ T-regulatory cells and enhances their functional activity. J Immunol (2005) 1.30
GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet (2006) 1.24
The mutational spectrum of brachydactyly type C. Am J Med Genet (2002) 1.22
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet (2009) 1.21
Targeted induction of endoplasmic reticulum stress induces cartilage pathology. PLoS Genet (2009) 1.21
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat (2004) 1.21
Hormone trajectories leading to human birth. Regul Pept (2002) 1.20
International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A (2014) 1.19
Global comparative transcriptome analysis of cartilage formation in vivo. BMC Dev Biol (2009) 1.18
Comprehensive profiling of cartilage extracellular matrix formation and maturation using sequential extraction and label-free quantitative proteomics. Mol Cell Proteomics (2010) 1.18
Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol (2007) 1.15
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Ann Neurol (2008) 1.14
In vivo cellular adaptation to ER stress: survival strategies with double-edged consequences. J Cell Sci (2010) 1.13
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. Clin Orthop Relat Res (2011) 1.12
Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN. Mamm Genome (2007) 1.11
Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response. J Biol Chem (2005) 1.10
ADAMTS-1-knockout mice do not exhibit abnormalities in aggrecan turnover in vitro or in vivo. Arthritis Rheum (2005) 1.09
S100A8 and S100A9 in experimental osteoarthritis. Arthritis Res Ther (2010) 1.08
Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet (2011) 1.07
Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. J Biol Chem (2001) 1.06
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet (2011) 1.02
Changes in the chondrocyte and extracellular matrix proteome during post-natal mouse cartilage development. Mol Cell Proteomics (2011) 1.01
Proteomic analysis of mouse growth plate cartilage. Proteomics (2006) 1.01
A microarray approach for comparative expression profiling of the discrete maturation zones of mouse growth plate cartilage. Biochim Biophys Acta (2008) 1.01
Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophy. PLoS One (2011) 1.00
Heritability of central corneal thickness in nuclear families. Invest Ophthalmol Vis Sci (2009) 1.00
Depletion of annexin A5, annexin A6, and collagen X causes no gross changes in matrix vesicle-mediated mineralization, but lack of collagen X affects hematopoiesis and the Th1/Th2 response. J Bone Miner Res (2012) 0.99
Why mice have lost genes for COL21A1, STK17A, GPR145 and AHRI: evidence for gene deletion at evolutionary breakpoints in the rodent lineage. Trends Genet (2004) 0.99
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. J Clin Invest (2002) 0.99
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. Hum Mutat (2011) 0.99
Osteopathia striata with cranial sclerosis owing to WTX gene defect. J Bone Miner Res (2010) 0.98
Atrx deficiency induces telomere dysfunction, endocrine defects, and reduced life span. J Clin Invest (2013) 0.98
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. Am J Med Genet A (2003) 0.98
Population screening and cascade testing for carriers of SMA. Eur J Hum Genet (2007) 0.97
Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia. Am J Hum Genet (2008) 0.97
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet A (2007) 0.97
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. Hum Genet (2009) 0.97
TRPV4-associated skeletal dysplasias. Am J Med Genet C Semin Med Genet (2012) 0.96
Proteomic characterization of mouse cartilage degradation in vitro. Arthritis Rheum (2008) 0.96
Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2005) 0.96
Isolated Anxa5+/Sca-1+ perivascular cells from mouse meningeal vasculature retain their perivascular phenotype in vitro and in vivo. Exp Cell Res (2007) 0.96
The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health (2010) 0.95
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat (2006) 0.95
Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells. J Biol Chem (2002) 0.95
Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics. Arch Pathol Lab Med (2013) 0.94
Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis. Arthritis Rheum (2009) 0.94
Cartilage intermediate layer protein 2 (CILP-2) is expressed in articular and meniscal cartilage and down-regulated in experimental osteoarthritis. J Biol Chem (2011) 0.93
WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan. J Biol Chem (2006) 0.92
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. Am J Med Genet A (2010) 0.92
Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy. J Biol Chem (2010) 0.91
Proteomic analysis of cartilage proteins. Methods (2008) 0.91
Are Duane syndrome and infantile esotropia allelic? Ophthalmic Genet (2004) 0.90
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. Am J Med Genet A (2009) 0.90
A robust method for proteomic characterization of mouse cartilage using solubility-based sequential fractionation and two-dimensional gel electrophoresis. Matrix Biol (2008) 0.90
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation. Hum Mutat (2009) 0.90
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. Acta Derm Venereol (2008) 0.89
Evaluation of satisfaction of parents with the use of videoconferencing for a pediatric genetic consultation. Twin Res Hum Genet (2011) 0.89
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. Am J Med Genet A (2003) 0.89
Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles. Ann Plast Surg (2005) 0.88
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome. Am J Med Genet A (2005) 0.88
Human uterine wall tension trajectories and the onset of parturition. PLoS One (2010) 0.87
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. Am J Med Genet A (2006) 0.87
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. Am J Med Genet A (2007) 0.86
Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3. Am J Med Genet A (2005) 0.86
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. Eur J Hum Genet (2011) 0.86
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. PLoS Genet (2013) 0.86
Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti. Am J Med Genet A (2005) 0.85
Treatment with anti-gremlin 1 antibody ameliorates chronic hypoxia/SU5416-induced pulmonary arterial hypertension in mice. Am J Pathol (2013) 0.85
WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. J Med Genet (2010) 0.85