CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol (2011) 3.97

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med (2010) 2.44

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.27

PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet (2009) 2.16

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations. Nat Rev Genet (2009) 2.03

Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res (2011) 1.83

Biochemical characterization of the prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B complex. J Biol Chem (2009) 1.74

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet (2009) 1.68

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Cell Tissue Res (2009) 1.56

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res (2011) 1.53

Location of 3-hydroxyproline residues in collagen types I, II, III, and V/XI implies a role in fibril supramolecular assembly. J Biol Chem (2009) 1.44

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Mol Genet (2008) 1.42

Osteogenesis Imperfecta: A Review with Clinical Examples. Mol Syndromol (2011) 1.38

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet (2012) 1.29

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet (2013) 1.27

Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta. Calcif Tissue Int (2013) 1.25

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Hum Mol Genet (2011) 1.23

Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta. Nat Med (2014) 1.21

Current and emerging treatments for the management of osteogenesis imperfecta. Ther Clin Risk Manag (2010) 1.21

Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. Curr Opin Pediatr (2014) 1.12

Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity. Placenta (2009) 1.10

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genet Med (2012) 1.08

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. Hum Mol Genet (2009) 1.07

Generalized connective tissue disease in Crtap-/- mouse. PLoS One (2010) 1.07

Tooth dentin defects reflect genetic disorders affecting bone mineralization. Bone (2012) 1.07

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. Eur J Hum Genet (2009) 1.07

The prolyl 3-hydroxylases P3H2 and P3H3 are novel targets for epigenetic silencing in breast cancer. Br J Cancer (2009) 1.06

Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones. J Biol Chem (2010) 1.06

The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. J Bone Miner Metab (2011) 1.06

Next-generation sequencing for disorders of low and high bone mineral density. Osteoporos Int (2013) 1.05

A novel 3-hydroxyproline (3Hyp)-rich motif marks the triple-helical C terminus of tendon type I collagen. J Biol Chem (2011) 1.01

Potential implications of cell therapy for osteogenesis imperfecta. Int J Clin Rheumtol (2009) 0.95

Collagen prolyl 3-hydroxylation: a major role for a minor post-translational modification? Connect Tissue Res (2013) 0.94

The evolutionarily conserved leprecan gene: its regulation by Brachyury and its role in the developing Ciona notochord. Dev Biol (2009) 0.92

Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. J Osteoporos (2011) 0.92

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. Orphanet J Rare Dis (2013) 0.91

Peptidyl 3-hydroxyproline binding properties of type I collagen suggest a function in fibril supramolecular assembly. Biochemistry (2012) 0.91

Insights on the evolution of prolyl 3-hydroxylation sites from comparative analysis of chicken and Xenopus fibrillar collagens. PLoS One (2011) 0.90

A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens. J Biol Chem (2011) 0.89

Fracture healing with alendronate treatment in the Brtl/+ mouse model of osteogenesis imperfecta. Bone (2013) 0.88

Posttranslational modifications in type I collagen from different tissues extracted from wild type and prolyl 3-hydroxylase 1 null mice. J Biol Chem (2013) 0.88

Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues. PLoS Genet (2014) 0.87

Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP. Am J Med Genet A (2011) 0.87

The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations. Hum Mol Genet (2014) 0.87

Molecular properties and fibril ultrastructure of types II and XI collagens in cartilage of mice expressing exclusively the α1(IIA) collagen isoform. Matrix Biol (2013) 0.86

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. Eur J Hum Genet (2015) 0.85

Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. Clin Genet (2011) 0.84

The radiographic approach to child abuse. Clin Orthop Relat Res (2011) 0.84

Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap(-/-) Mice, a Model of Recessive Osteogenesis Imperfecta. J Bone Miner Res (2016) 0.82

Skeletal muscle weakness in osteogenesis imperfecta mice. Matrix Biol (2010) 0.82

Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations. J Biol Chem (2015) 0.81

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta. PLoS One (2012) 0.81

Classification of osteogenesis imperfecta. Wien Med Wochenschr (2015) 0.81

Recent developments in osteogenesis imperfecta. F1000Res (2015) 0.80

Skeletal dysplasias. Clin Perinatol (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

Hearing loss in osteogenesis imperfecta: characteristics and treatment considerations. Genet Res Int (2011) 0.79

Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice. Sci Rep (2016) 0.79

Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women. Osteoporos Int (2009) 0.79

The collagen prolyl hydroxylases are novel transcriptionally silenced genes in lymphoma. Br J Cancer (2012) 0.79

Sc65 is a novel endoplasmic reticulum protein that regulates bone mass homeostasis. J Bone Miner Res (2014) 0.78

An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1·cartilage-associated protein·cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro. J Biol Chem (2013) 0.77

Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations. Mol Genet Genomic Med (2013) 0.77

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. Am J Hum Genet (2015) 0.76

A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta. J Mol Diagn (2011) 0.75

Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta. Clin Cases Miner Bone Metab (2015) 0.75

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization. J Clin Endocrinol Metab (2016) 0.75

Rapid phenotyping of knockout mice to identify genetic determinants of bone strength. J Endocrinol (2016) 0.75

Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8. Hum Genet (2011) 0.75

Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing. Osteoporos Int (2017) 0.75

Genetic causes and mechanisms of Osteogenesis Imperfecta. Bone (2017) 0.75

Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. J Bone Miner Res (2017) 0.75

Osteogenesis imperfecta. Lancet (2004) 5.88

Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends Genet (2004) 5.47

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell (2006) 4.10

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet (2007) 3.84

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet (2006) 3.80

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med (2006) 2.97

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. J Biol Chem (1984) 2.25

Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes. J Biol Chem (2004) 2.23

Congenital anomalies in the Irish traveller community. Ir Med J (1997) 2.04

Procollagen folding and assembly: the role of endoplasmic reticulum enzymes and molecular chaperones. Semin Cell Dev Biol (1999) 2.01

Health care needs of travellers. Arch Dis Child (2000) 1.90

Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta. Clin Genet (1989) 1.65

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet (1990) 1.56

Classification of osteogenesis imperfect. Lancet (1978) 1.37

Experience with bisphosphonates in osteogenesis imperfecta. Pediatrics (2007) 1.32

The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature (2012) 20.47

Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66

Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med (2006) 9.50

QTc interval screening in methadone treatment. Ann Intern Med (2009) 5.23

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

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet (2006) 3.88

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet (2007) 3.84

Differences in early childhood risk factors for juvenile-onset and adult-onset depression. Arch Gen Psychiatry (2002) 3.84

Human chromosome 7: DNA sequence and biology. Science (2003) 3.02

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med (2006) 2.97

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94

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

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74

Early childhood factors associated with the development of post-traumatic stress disorder: results from a longitudinal birth cohort. Psychol Med (2006) 2.57

Molecular identification of high and low affinity receptors for nicotinic acid. J Biol Chem (2003) 2.52

Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46

Mental health policy development and implementation in four African countries. J Health Psychol (2007) 2.45

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med (2010) 2.44

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44

A high-density genetic recombination map of sequence-tagged sites for sorghum, as a framework for comparative structural and evolutionary genomics of tropical grains and grasses. Genetics (2003) 2.40

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

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.27

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet (2008) 2.24

Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A (2006) 2.23

The shaping and functional consequences of the microRNA landscape in breast cancer. Nature (2013) 2.22

American Academy of Orthopaedic Surgeons Clinical Practice Guideline on: optimizing the management of rotator cuff problems. J Bone Joint Surg Am (2012) 2.20

The implications of shortages of health professionals for maternal health in sub-saharan Africa. Reprod Health Matters (2006) 2.16

Targeted deletion of microRNA-22 promotes stress-induced cardiac dilation and contractile dysfunction. Circulation (2012) 2.14

Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol (2013) 2.11

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab (2010) 2.07

Usefulness of bicuspid aortic valve phenotype to predict elastic properties of the ascending aorta. Am J Cardiol (2007) 2.05

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet (2009) 2.02

A code of best practice for disease control programmes to avoid damaging health care services in developing countries. Int J Health Plann Manage (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

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A (2008) 1.91

WHO and partners launch Ebola response plan. Lancet (2014) 1.90

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

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet (2005) 1.79

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

Time to failure after rotator cuff repair: a prospective imaging study. J Bone Joint Surg Am (2013) 1.76

Gene targeting in stem cells from individuals with osteogenesis imperfecta. Science (2004) 1.75

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain (2007) 1.73

Using biochemical markers of bone turnover in clinical practice. Cleve Clin J Med (2008) 1.71

Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors. Mol Ther (2007) 1.69

Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature. J Neuroophthalmol (2002) 1.64

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63

Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. Eur J Hum Genet (2007) 1.63

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet (2004) 1.63

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet (2009) 1.59