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Items: 1 to 20 of 126


Consequences of Glycine Mutations in the Fibronectin-binding Sequence of Collagen.

Chhum P, Yu H, An B, Doyon BR, Lin YS, Brodsky B.

J Biol Chem. 2016 Dec 30;291(53):27073-27086. doi: 10.1074/jbc.M116.753566. Epub 2016 Oct 31.


Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.

Jeanne M, Gould DB.

Matrix Biol. 2017 Jan;57-58:29-44. doi: 10.1016/j.matbio.2016.10.003. Epub 2016 Oct 26. Review.


A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.

Watanabe M, Nakagawa R, Naruto T, Kohmoto T, Suga K, Goji A, Kagami S, Masuda K, Imoto I.

Hum Genome Var. 2016 Sep 15;3:16030. doi: 10.1038/hgv.2016.30. eCollection 2016.


X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M.

PLoS One. 2016 Sep 14;11(9):e0161802. doi: 10.1371/journal.pone.0161802. eCollection 2016.


Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.

Ho Duy B, Zhytnik L, Maasalu K, Kändla I, Prans E, Reimann E, Märtson A, Kõks S.

Hum Genomics. 2016 Aug 12;10(1):27. doi: 10.1186/s40246-016-0083-1.


Mapping the Effect of Gly Mutations in Collagen on α2β1 Integrin Binding.

Yigit S, Yu H, An B, Hamaia S, Farndale RW, Kaplan DL, Lin YS, Brodsky B.

J Biol Chem. 2016 Sep 2;291(36):19196-207. doi: 10.1074/jbc.M116.726182. Epub 2016 Jul 18.


Association analysis of the COL1A1 polymorphism with bone mineral density and prevalent fractures in Polish postmenopausal women with osteoporosis.

Dytfeld J, Marcinkowska M, Drwęska-Matelska N, Michalak M, Horst-Sikorska W, Słomski R.

Arch Med Sci. 2016 Apr 1;12(2):288-94. doi: 10.5114/aoms.2016.59253. Epub 2016 Apr 12.


Makings of a brittle bone: Unexpected lessons from a low protein diet study of a mouse OI model.

Mertz EL, Makareeva E, Mirigian LS, Koon KY, Perosky JE, Kozloff KM, Leikin S.

Matrix Biol. 2016 May-Jul;52-54:29-42. doi: 10.1016/j.matbio.2016.03.005. Epub 2016 Mar 31.


Osteoblast Malfunction Caused by Cell Stress Response to Procollagen Misfolding in α2(I)-G610C Mouse Model of Osteogenesis Imperfecta.

Mirigian LS, Makareeva E, Mertz EL, Omari S, Roberts-Pilgrim AM, Oestreich AK, Phillips CL, Leikin S.

J Bone Miner Res. 2016 Aug;31(8):1608-16. doi: 10.1002/jbmr.2824. Epub 2016 Apr 13.


Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin.

Gistelinck C, Gioia R, Gagliardi A, Tonelli F, Marchese L, Bianchi L, Landi C, Bini L, Huysseune A, Witten PE, Staes A, Gevaert K, De Rocker N, Menten B, Malfait F, Leikin S, Carra S, Tenni R, Rossi A, De Paepe A, Coucke P, Willaert A, Forlino A.

Sci Rep. 2016 Feb 15;6:21540. doi: 10.1038/srep21540.


Intrinsically disordered proteins and biomineralization.

Boskey AL, Villarreal-Ramirez E.

Matrix Biol. 2016 May-Jul;52-54:43-59. doi: 10.1016/j.matbio.2016.01.007. Epub 2016 Jan 22. Review.


Early telescopic rod osteosynthesis for Osteogenesis Imperfecta patients.

Sterian A, Balanescu R, Barbilian A, Tevanov I, Carp M, Nahoi C, Barbu M, Ulici A.

J Med Life. 2015 Oct-Dec;8(4):544-7.


Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

Lin HY, Chuang CK, Su YN, Chen MR, Chiu HC, Niu DM, Lin SP.

Orphanet J Rare Dis. 2015 Dec 1;10:152. doi: 10.1186/s13023-015-0370-2.


Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta.

Brizola E, McCarthy E, Shapiro JR.

Clin Cases Miner Bone Metab. 2015 May-Aug;12(2):202-6. doi: 10.11138/ccmbm/2015.12.2.202. Epub 2015 Oct 26.


Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

Taillandier A, Domingues C, De Cazanove C, Porquet-Bordes V, Monnot S, Kiffer-Moreira T, Rothenbuhler A, Guggenbuhl P, Cormier C, Baujat G, Debiais F, Capri Y, Cohen-Solal M, Parent P, Chiesa J, Dieux A, Petit F, Roume J, Isnard M, Cormier-Daire V, Linglart A, Millán JL, Salles JP, Muti C, Simon-Bouy B, Mornet E.

Mol Genet Metab. 2015 Nov;116(3):215-20. doi: 10.1016/j.ymgme.2015.09.010. Epub 2015 Sep 30.


Recent developments in osteogenesis imperfecta.

Shaker JL, Albert C, Fritz J, Harris G.

F1000Res. 2015 Sep 7;4(F1000 Faculty Rev):681. doi: 10.12688/f1000research.6398.1. eCollection 2015. Review.


Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.

Symoens S, Barnes AM, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, Syx D, D'hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ.

Am J Hum Genet. 2015 Oct 1;97(4):521-34. doi: 10.1016/j.ajhg.2015.08.009. Epub 2015 Sep 10.


Dynamic Water-Mediated Hydrogen Bonding in a Collagen Model Peptide.

Fu I, Case DA, Baum J.

Biochemistry. 2015 Oct 6;54(39):6029-37. doi: 10.1021/acs.biochem.5b00622.


Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta.

Bianchi L, Gagliardi A, Maruelli S, Besio R, Landi C, Gioia R, Kozloff KM, Khoury BM, Coucke PJ, Symoens S, Marini JC, Rossi A, Bini L, Forlino A.

Hum Mol Genet. 2015 Nov 1;24(21):6118-33. doi: 10.1093/hmg/ddv328. Epub 2015 Aug 11.

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