Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases.
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A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosaInductive Effects on the Energetics of Prolyl Peptide Bond Isomerization: Implications for Collagen Folding and StabilityPotential implications of cell therapy for osteogenesis imperfecta.Molecular analysis of mutations in the Caenorhabditis elegans collagen gene dpy-7.Alport syndrome: abnormalities of type IV collagen genes and proteins.An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in jointsA missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.dpy-18 encodes an alpha-subunit of prolyl-4-hydroxylase in caenorhabditis elegans.Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.Gene therapy approaches for osteogenesis imperfecta.Structure-mechanics relationships of collagen fibrils in the osteogenesis imperfecta mouse model.Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome.From collagen chemistry towards cell therapy - a personal journey.Collagen from the osteogenesis imperfecta mouse model (oim) shows reduced resistance against tensile stress.Epidermolysis bullosa: pathogenetic pathways from mutations to symptoms.Collagens and their abnormalities in a wide spectrum of diseases.Osteogenesis imperfecta with partial trisomy 15.Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans.Retrovirally transduced bone marrow stromal cells isolated from a mouse model of human osteogenesis imperfecta (oim) persist in bone and retain the ability to form cartilage and bone after extended passaging.Co-existence of osteogenesis imperfecta and hyperparathyroidism.
P2860
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P2860
Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
Seminars in medicine of the Be ...... of connective-tissue diseases.
@en
type
label
Seminars in medicine of the Be ...... of connective-tissue diseases.
@en
prefLabel
Seminars in medicine of the Be ...... of connective-tissue diseases.
@en
P1476
Seminars in medicine of the Be ...... of connective-tissue diseases.
@en
P2093
Prockop DJ
P304
P356
10.1056/NEJM199202203260807
P407
P577
1992-02-01T00:00:00Z