Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
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Mutations in WNT1 cause different forms of bone fragilityRecent developments in osteogenesis imperfectaOsteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formationOsteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessmentNovel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patientsConnective tissue alterations in Fkbp10-/- mice.Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck SyndromeExercise increases pyridinoline cross-linking and counters the mechanical effects of concurrent lathyrogenic treatment.Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaCollagen prolyl 3-hydroxylation: a major role for a minor post-translational modification?FKBP65-dependent peptidyl-prolyl isomerase activity potentiates the lysyl hydroxylase 2-driven collagen cross-link switch.A look behind the scenes: the risk and pathogenesis of primary osteoporosis.Lysyl Hydroxylase 2 Is Secreted by Tumor Cells and Can Modify Collagen in the Extracellular Space.Classification of osteogenesis imperfecta.Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood.Advances in the Classification and Treatment of Osteogenesis Imperfecta.Pharmacological and biological therapeutic strategies for osteogenesis imperfecta.Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study.Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.Heritable Skeletal Disorders Arising from Defects in Processing and Transport of Type I Procollagen from the ER: Perspectives on Possible Therapeutic Approaches.The genetic implication of scoliosis in osteogenesis imperfecta: a review.Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.Genetic causes and mechanisms of Osteogenesis Imperfecta.Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.Hippo Signaling Plays an Essential Role in Cell State Transitions during Cardiac Fibroblast Development.Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlationsTreatment options for osteogenesis imperfecta
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P2860
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
@wuu
2012年学术文章
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2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
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2012年學術文章
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name
Mutations in PLOD2 cause autos ...... mperfecta phenotypic spectrum.
@en
Mutations in PLOD2 cause autos ...... mperfecta phenotypic spectrum.
@nl
type
label
Mutations in PLOD2 cause autos ...... mperfecta phenotypic spectrum.
@en
Mutations in PLOD2 cause autos ...... mperfecta phenotypic spectrum.
@nl
prefLabel
Mutations in PLOD2 cause autos ...... mperfecta phenotypic spectrum.
@en
Mutations in PLOD2 cause autos ...... mperfecta phenotypic spectrum.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in PLOD2 cause autos ...... imperfecta phenotypic spectrum
@en
P2093
Adel M Ashour
Maria Trinidad Puig-Hervás
Maria Valencia
María Juliana Ballesta-Martínez
Pablo Lapunzina
Vanesa López-González
Veronica Pulido
P2860
P304
P356
10.1002/HUMU.22133
P50
P577
2012-07-05T00:00:00Z