Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
about
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfectaAbnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfectaER stress-mediated apoptosis in a new mouse model of osteogenesis imperfectaBisphosphonate therapy for osteogenesis imperfectaProlyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfectaLack of cyclophilin B in osteogenesis imperfecta with normal collagen foldingProlyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bonesProlyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complexThe zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathwaysCharacterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IVA novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfectaExome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfectaCRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisCommon variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese womenNull mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfectaProlyl 4-hydroxylaseMutations in SERPINF1 cause osteogenesis imperfecta type VIHomozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfectaMutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationshipsCRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaRecent developments in osteogenesis imperfectaOsteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formationBone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfectaNew genes in bone development: what's new in osteogenesis imperfectaGenetic networks in osseointegrationOsteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessmentSkeletal dysplasiasGenetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaSevere osteogenesis imperfecta in cyclophilin B-deficient miceWNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.Increased susceptibility to microdamage in Brtl/+ mouse model for osteogenesis imperfecta.Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.Generalized connective tissue disease in Crtap-/- mouse.Procollagen triple helix assembly: an unconventional chaperone-assisted folding paradigm.Identification of differentially expressed genes in the growth plate of broiler chickens with thiram-induced tibial dyschondroplasia.Managing the patient with osteogenesis imperfecta: a multidisciplinary approach.Location of 3-hydroxyproline residues in collagen types I, II, III, and V/XI implies a role in fibril supramolecular assembly.CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VIIMutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations
P2860
Q21092456-18AE205A-AA62-4676-B253-672D5754D20DQ21144869-6BDF86D2-85D1-4E41-A370-0B34918A9924Q21563327-3456F193-15A0-4692-B7B9-29263F81BC77Q24194821-D14E4B8E-C174-4745-A7D3-37DA061445AFQ24295351-85796CBF-C6CE-4BD7-A1FD-4C95A5930BC0Q24296711-81A91EAE-BD22-45B7-ABF8-DA2882886039Q24305491-FD11C5E4-7449-4602-AF41-F089F5E3B228Q24309419-F609C905-4274-44FC-A6AD-4D3B2DB2B497Q24312022-36DEB3B0-32CB-46B6-A390-EE57E28E0FFFQ24314388-62EDA6AE-D88E-4D9C-9CCF-F5D831C7084CQ24324926-77F97D96-8D02-455C-ABD1-ED1A70C967C1Q24594147-943552AB-0732-41A2-B4F5-46536053293FQ24599558-D03D5479-C96F-4B37-B208-82B620FEE6D2Q24599843-E5AE98F2-9181-4C59-9F2E-1EB39BE46A1BQ24617020-41499F34-77C2-44E2-8D8D-0D70AAA0FE08Q24622617-25737D4F-C202-4DB0-91F9-8FC207F5580EQ24629521-B33CF357-7E32-44F4-AAD7-6860F97B8F05Q24632692-B6014FA6-A80C-47DD-AD40-7559D08A5964Q24655456-64CC553E-5B7C-4035-9246-FC376FCEC488Q24656156-AFCED847-8362-4301-8B8B-968D8B35A448Q26781674-B575F4C4-945E-49FE-A4C0-2A7750B962A5Q26824200-C1C40F34-AA8A-40B3-8C50-108480C7E3F3Q26862184-4D5A7FFC-684C-4CA3-B7E0-6C5EEAE36205Q26864752-17FA4B86-8FEA-4233-A8D6-D4ADB5B1B348Q27013864-3CF7BE2F-76D1-48BE-A92A-968570850545Q27025005-B978EA22-2504-4F91-B2D1-B483CABE1179Q28083452-A896FF82-9349-4CE7-A7DA-8DBD5111900EQ28117395-264DEACC-3CAA-47D0-92FA-ECF502B3EF82Q28510022-AEEF64B1-7387-44B6-823A-A5D4CBB622BFQ30448491-A2A6A182-118A-4DD6-82F6-D3C8BF134E35Q30463549-3EA0EBA6-CED7-4F24-8F19-9E789FDB9443Q30541868-3CC40005-BD0A-47F2-882E-F339ECAD3479Q30982897-BA632690-9CBA-403E-9D2E-A097F3362757Q33302124-7991D228-0824-44FF-B734-24AA00B8A2EBQ33422336-D30133B2-1523-4ABC-A58E-02992B53CDB6Q33554034-08ACACD8-8BA5-4E60-B608-41855F30C9CFQ33593978-66CF692C-C437-483A-A3F6-19385E93D598Q33673233-0202108A-3D67-4064-9FB9-E71E7CD1061DQ33772970-0F0EBFF3-AB8D-4BEC-B687-DE333B41655EQ33847609-08EB4B49-AD2F-4639-AA93-8ECD85BA3647
P2860
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
description
2006 nî lūn-bûn
@nan
2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
@ast
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
@en
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
@nl
type
label
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
@ast
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
@en
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
@nl
prefLabel
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
@ast
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
@en
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
@nl
P2093
P356
P1476
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
@en
P2093
Aarthi Ashok
Aileen M Barnes
Armando W Flor
Brendan Lee
David R Eyre
Elena Makareeva
Joan C Marini
John J Mulvihill
MaryAnn Weis
Natalia Kuznetsova
P304
P356
10.1056/NEJMOA063804
P407
P577
2006-12-01T00:00:00Z