These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

399 related articles for article (PubMed ID: 24968150)

  • 21. Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.
    Marini JC; Cabral WA; Barnes AM; Chang W
    Cell Cycle; 2007 Jul; 6(14):1675-81. PubMed ID: 17630507
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
    Christiansen HE; Schwarze U; Pyott SM; AlSwaid A; Al Balwi M; Alrasheed S; Pepin MG; Weis MA; Eyre DR; Byers PH
    Am J Hum Genet; 2010 Mar; 86(3):389-98. PubMed ID: 20188343
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding.
    Ishikawa Y; Vranka JA; Boudko SP; Pokidysheva E; Mizuno K; Zientek K; Keene DR; Rashmir-Raven AM; Nagata K; Winand NJ; Bächinger HP
    J Biol Chem; 2012 Jun; 287(26):22253-65. PubMed ID: 22556420
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Sc65-Null Mice Provide Evidence for a Novel Endoplasmic Reticulum Complex Regulating Collagen Lysyl Hydroxylation.
    Heard ME; Besio R; Weis M; Rai J; Hudson DM; Dimori M; Zimmerman SM; Kamykowski JA; Hogue WR; Swain FL; Burdine MS; Mackintosh SG; Tackett AJ; Suva LJ; Eyre DR; Morello R
    PLoS Genet; 2016 Apr; 12(4):e1006002. PubMed ID: 27119146
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The structural basis for the collagen processing by human P3H1/CRTAP/PPIB ternary complex.
    Li W; Peng J; Yao D; Rao B; Xia Y; Wang Q; Li S; Cao M; Shen Y; Ma P; Liao R; Qin A; Zhao J; Cao Y
    Nat Commun; 2024 Sep; 15(1):7844. PubMed ID: 39245686
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2.
    Gjaltema RA; van der Stoel MM; Boersema M; Bank RA
    Proc Natl Acad Sci U S A; 2016 Jun; 113(26):7142-7. PubMed ID: 27298363
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
    Cabral WA; Chang W; Barnes AM; Weis M; Scott MA; Leikin S; Makareeva E; Kuznetsova NV; Rosenbaum KN; Tifft CJ; Bulas DI; Kozma C; Smith PA; Eyre DR; Marini JC
    Nat Genet; 2007 Mar; 39(3):359-65. PubMed ID: 17277775
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
    Cabral WA; Ishikawa M; Garten M; Makareeva EN; Sargent BM; Weis M; Barnes AM; Webb EA; Shaw NJ; Ala-Kokko L; Lacbawan FL; Högler W; Leikin S; Blank PS; Zimmerberg J; Eyre DR; Yamada Y; Marini JC
    PLoS Genet; 2016 Jul; 12(7):e1006156. PubMed ID: 27441836
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Biochemical characterization of the prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B complex.
    Ishikawa Y; Wirz J; Vranka JA; Nagata K; Bächinger HP
    J Biol Chem; 2009 Jun; 284(26):17641-7. PubMed ID: 19419969
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
    Kelley BP; Malfait F; Bonafe L; Baldridge D; Homan E; Symoens S; Willaert A; Elcioglu N; Van Maldergem L; Verellen-Dumoulin C; Gillerot Y; Napierala D; Krakow D; Beighton P; Superti-Furga A; De Paepe A; Lee B
    J Bone Miner Res; 2011 Mar; 26(3):666-72. PubMed ID: 20839288
    [TBL] [Abstract][Full Text] [Related]  

  • 31. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
    Lindert U; Cabral WA; Ausavarat S; Tongkobpetch S; Ludin K; Barnes AM; Yeetong P; Weis M; Krabichler B; Srichomthong C; Makareeva EN; Janecke AR; Leikin S; Röthlisberger B; Rohrbach M; Kennerknecht I; Eyre DR; Suphapeetiporn K; Giunta C; Marini JC; Shotelersuk V
    Nat Commun; 2016 Jul; 7():11920. PubMed ID: 27380894
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.
    Takagi M; Ishii T; Barnes AM; Weis M; Amano N; Tanaka M; Fukuzawa R; Nishimura G; Eyre DR; Marini JC; Hasegawa T
    PLoS One; 2012; 7(5):e36809. PubMed ID: 22615817
    [TBL] [Abstract][Full Text] [Related]  

  • 33. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
    Morello R; Bertin TK; Chen Y; Hicks J; Tonachini L; Monticone M; Castagnola P; Rauch F; Glorieux FH; Vranka J; Bächinger HP; Pace JM; Schwarze U; Byers PH; Weis M; Fernandes RJ; Eyre DR; Yao Z; Boyce BF; Lee B
    Cell; 2006 Oct; 127(2):291-304. PubMed ID: 17055431
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta.
    Eyre DR; Weis MA
    Calcif Tissue Int; 2013 Oct; 93(4):338-47. PubMed ID: 23508630
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive
    Zhytnik L; Duy BH; Eekhoff M; Wisse L; Pals G; Reimann E; Kõks S; Märtson A; Maugeri A; Maasalu K; Micha D
    Genes (Basel); 2022 Feb; 13(3):. PubMed ID: 35327962
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.
    Ishikawa Y; Taga Y; Zientek K; Mizuno N; Salo AM; Semenova O; Tufa SF; Keene DR; Holden P; Mizuno K; Gould DB; Myllyharju J; Bächinger HP
    J Biol Chem; 2021; 296():100453. PubMed ID: 33631195
    [TBL] [Abstract][Full Text] [Related]  

  • 37. New perspectives on osteogenesis imperfecta.
    Forlino A; Cabral WA; Barnes AM; Marini JC
    Nat Rev Endocrinol; 2011 Jun; 7(9):540-57. PubMed ID: 21670757
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.
    Lindert U; Weis MA; Rai J; Seeliger F; Hausser I; Leeb T; Eyre D; Rohrbach M; Giunta C
    J Biol Chem; 2015 Jul; 290(29):17679-17689. PubMed ID: 26004778
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].
    Hasegawa K
    Clin Calcium; 2010 Aug; 20(8):1190-5. PubMed ID: 20675929
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure.
    Daponte V; Tonelli F; Masiero C; Syx D; Exbrayat-Héritier C; Biggiogera M; Willaert A; Rossi A; Coucke PJ; Ruggiero F; Forlino A
    Matrix Biol; 2023 Aug; 121():105-126. PubMed ID: 37336269
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 20.