Found: 23
Select item for more details and to access through your institution.
Cyclophilin B control of lysine post-translational modifications of skin type I collagen.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 6, p. 1, doi. 10.1371/journal.pgen.1008196
- By:
- Publication type:
- Article
Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors.
- Published in:
- Journal of Bone & Mineral Research, 2008, v. 23, n. 12, p. 1983, doi. 10.1359/jbmr.080804
- By:
- Publication type:
- Article
Corrigendum: Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
- Published in:
- 2008
- By:
- Publication type:
- Correction Notice
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
- Published in:
- Nature Genetics, 2007, v. 39, n. 3, p. 359, doi. 10.1038/ng1968
- By:
- Publication type:
- Article
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.
- Published in:
- EMBO Journal, 2015, v. 34, n. 22, p. 2820, doi. 10.15252/embj.201592042
- By:
- Publication type:
- Article
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
- Published in:
- Nature Communications, 2016, v. 7, n. 7, p. 11920, doi. 10.1038/ncomms11920
- By:
- Publication type:
- Article
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
- Published in:
- Cell & Tissue Research, 2010, v. 339, n. 1, p. 59, doi. 10.1007/s00441-009-0872-0
- By:
- Publication type:
- Article
Somatic activating mutations in MAP2K1 cause melorheostosis.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03720-z
- By:
- Publication type:
- Article
Abnormal Type I Collagen Post-translational Modification and Crosslinking in a Cyclophilin B KO Mouse Model of Recessive Osteogenesis Imperfecta.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 6, p. 1, doi. 10.1371/journal.pgen.1004465
- By:
- Publication type:
- Article
Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations.
- Published in:
- Human Mutation, 2013, v. 34, n. 9, p. 1279, doi. 10.1002/humu.22362
- By:
- Publication type:
- Article
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1589, doi. 10.1002/humu.22139
- By:
- Publication type:
- Article
Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
- Published in:
- Human Mutation, 2007, v. 28, n. 4, p. 396, doi. 10.1002/humu.20456
- By:
- Publication type:
- Article
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.
- Published in:
- Human Mutation, 2007, v. 28, n. 3, p. 209, doi. 10.1002/humu.20429
- By:
- Publication type:
- Article
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 2, p. 223, doi. 10.1093/hmg/ddp481
- By:
- Publication type:
- Article
Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction.
- Published in:
- Journal of Bone & Mineral Research, 2019, v. 34, n. 5, p. 883, doi. 10.1002/jbmr.3656
- By:
- Publication type:
- Article
A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor.
- Published in:
- Journal of Bone & Mineral Research, 2014, v. 29, n. 6, p. 1402, doi. 10.1002/jbmr.2173
- By:
- Publication type:
- Article
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
- Published in:
- Human Mutation, 1998, v. 11, n. 5, p. 395, doi. 10.1002/(SICI)1098-1004(1998)11:5<395::AID-HUMU7>3.0.CO;2-4
- By:
- Publication type:
- Article
Bone dysplasia in Hutchinson‐Gilford progeria syndrome is associated with dysregulated differentiation and function of bone cell populations.
- Published in:
- Aging Cell, 2023, v. 22, n. 9, p. 1, doi. 10.1111/acel.13903
- By:
- Publication type:
- Article
Genetic reduction of mTOR extends lifespan in a mouse model of Hutchinson‐Gilford Progeria syndrome.
- Published in:
- Aging Cell, 2021, v. 20, n. 9, p. 1, doi. 10.1111/acel.13457
- By:
- Publication type:
- Article
Mineral and Matrix Changes in Brtl/+ Teeth Provide Insights into Mineralization Mechanisms.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/295812
- By:
- Publication type:
- Article
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 7, p. 1, doi. 10.1371/journal.pgen.1006156
- By:
- Publication type:
- Article