Search Results

Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.

• Authors : Nash BM; Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.

Subjects: Collagen Type IX/Collagen Type IX/Collagen Type IX/*genetics ; Retinal Degeneration/Retinal Degeneration/Retinal Degeneration/*genetics ; Retinal Detachment/Retinal Detachment/Retinal Detachment/*genetics

• Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 May; Vol. 29 (5), pp. 881-886. Date of Electronic Publication: 2021 Feb 25.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

Record details

Structural insight for chain selection and stagger control in collagen.

• Authors : Boudko SP; Research Department, Shriners Hospital for Children, Portland, Oregon 97239, USA.; Department of Molecular Biology and Biochemistry, Oregon Health and Science University, Portland, Oregon 97239, USA.

Subjects: Collagen Type IX/Collagen Type IX/Collagen Type IX/*chemistry ; Collagen Type IX/Collagen Type IX/Collagen Type IX/*genetics; Amino Acid Sequence

• Source: Scientific reports [Sci Rep] 2016 Nov 29; Vol. 6, pp. 37831. Date of Electronic Publication: 2016 Nov 29.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

Record details

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.

• Authors : Jakkula E; Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland.; Mäkitie O

Subjects: Mutation*; Osteochondrodysplasias/Osteochondrodysplasias/Osteochondrodysplasias/*genetics; Adolescent

• Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2005 Mar; Vol. 13 (3), pp. 292-301.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium:

Record details

Inhibition of microRNA-384-5p alleviates osteoarthritis through its effects on inhibiting apoptosis of cartilage cells via the NF-[kappa]B signaling pathway by targeting SOX9

• Authors : Zhang, Weikai; Cheng, Peng; Hu, Weihua

• Source: Cancer Gene Therapy. December, 2018, Vol. 25 Issue 11-12, p326, 3 p.

Record details

Site-specific gene modification by oligodeoxynucleotides in mouse bone marrow-derived mesenchymal stem cells.

• Authors : Flagler, K.; Alexeev, V.; Pierce, E.A.

• Source: Gene Therapy. July 1, 2008, Vol. 15 Issue 14, p1035, 14 p.

Record details

Tissue-print and print-phoresis as platform technologies for the molecular analysis of human surgical specimens: mapping tumor invasion of the prostate capsule.

• Authors : Gaston, Sandra M.; Soares, Marc A.; Siddiqui, M Minhaj

• Source: Nature Medicine. January, 2005, Vol. 11 Issue 1, p95, 7 p.

Record details

The role of the cartilage matrix in osteoarthritis

• Authors : Heinegard, Dick; Saxne, Tore

• Source: Nature Reviews Rheumatology. January 1, 2011, Vol. 7 Issue 1, p50, 7 p.

Record details

Gene expression profiling of B lymphocytes and plasma cells from Waldenstrom's macroglobulinemia: comparison with expression patterns of the same cell counterparts from chronic lymphocytic leukemia, multiple myeloma and normal individuals

• Authors : Gutierrez, N.C.; Ocio, E.M.; de las Rivas, J.

• Source: Leukemia. March, 2007, Vol. 21 Issue 3, p541, 9 p.

Record details

Correction of a mineralization defect by overexpression of a wild-type cDNA for COL1A1 in marrow stromal cells (MSCs) from a patient with osteogenesis imperfecta: a strategy for rescuing mutations that produce dominant-negative protein defects.

• Authors : Pochampally, R R.; Horwitz, E M.; DiGirolamo, C M.

• Source: Gene Therapy. July, 2005, Vol. 12 Issue 14, 1119.

Record details