453 related articles for article (PubMed ID: 34007986)
1. Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.
Jovanovic M; Guterman-Ram G; Marini JC
Endocr Rev; 2022 Jan; 43(1):61-90. PubMed ID: 34007986
[TBL] [Abstract][Full Text] [Related]
2. A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.
Farber CR; Reich A; Barnes AM; Becerra P; Rauch F; Cabral WA; Bae A; Quinlan A; Glorieux FH; Clemens TL; Marini JC
J Bone Miner Res; 2014 Jun; 29(6):1402-11. PubMed ID: 24519609
[TBL] [Abstract][Full Text] [Related]
3. New genes in bone development: what's new in osteogenesis imperfecta.
Marini JC; Blissett AR
J Clin Endocrinol Metab; 2013 Aug; 98(8):3095-103. PubMed ID: 23771926
[TBL] [Abstract][Full Text] [Related]
4. Alterations of bone material properties in growing Ifitm5/BRIL p.S42 knock-in mice, a new model for atypical type VI osteogenesis imperfecta.
Hedjazi G; Guterman-Ram G; Blouin S; Schemenz V; Wagermaier W; Fratzl P; Hartmann MA; Zwerina J; Fratzl-Zelman N; Marini JC
Bone; 2022 Sep; 162():116451. PubMed ID: 35654352
[TBL] [Abstract][Full Text] [Related]
5. Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
Marini JC; Reich A; Smith SM
Curr Opin Pediatr; 2014 Aug; 26(4):500-7. PubMed ID: 25007323
[TBL] [Abstract][Full Text] [Related]
6. Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.
Syx D; Guillemyn B; Symoens S; Sousa AB; Medeira A; Whiteford M; Hermanns-Lê T; Coucke PJ; De Paepe A; Malfait F
J Bone Miner Res; 2015 Aug; 30(8):1445-56. PubMed ID: 25656619
[TBL] [Abstract][Full Text] [Related]
7. Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation.
Blouin S; Fratzl-Zelman N; Glorieux FH; Roschger P; Klaushofer K; Marini JC; Rauch F
J Bone Miner Res; 2017 Sep; 32(9):1884-1892. PubMed ID: 28548288
[TBL] [Abstract][Full Text] [Related]
8. Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel
Lim PJ; Marcionelli G; Srikanthan P; Ndarugendamwo T; Pinner J; Rohrbach M; Giunta C
Front Endocrinol (Lausanne); 2023; 14():1195704. PubMed ID: 37305034
[TBL] [Abstract][Full Text] [Related]
9. Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.
Reich A; Bae AS; Barnes AM; Cabral WA; Hinek A; Stimec J; Hill SC; Chitayat D; Marini JC
J Clin Endocrinol Metab; 2015 Feb; 100(2):E325-32. PubMed ID: 25387264
[TBL] [Abstract][Full Text] [Related]
10. Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
Besio R; Chow CW; Tonelli F; Marini JC; Forlino A
FEBS J; 2019 Aug; 286(15):3033-3056. PubMed ID: 31220415
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Unique micro- and nano-scale mineralization pattern of human osteogenesis imperfecta type VI bone.
Fratzl-Zelman N; Schmidt I; Roschger P; Roschger A; Glorieux FH; Klaushofer K; Wagermaier W; Rauch F; Fratzl P
Bone; 2015 Apr; 73():233-41. PubMed ID: 25554599
[TBL] [Abstract][Full Text] [Related]
13. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Marini JC; Cabral WA; Barnes AM
Cell Tissue Res; 2010 Jan; 339(1):59-70. PubMed ID: 19862557
[TBL] [Abstract][Full Text] [Related]
14. [Mutations of noncollagen genes in osteogenesis imperfecta--implications of the gene products in collagen biosynthesis and pathogenesis of disease].
Galicka A
Postepy Hig Med Dosw (Online); 2012 Jun; 66():359-71. PubMed ID: 22706122
[TBL] [Abstract][Full Text] [Related]
15. Signaling pathways affected by mutations causing osteogenesis imperfecta.
Etich J; Rehberg M; Eckes B; Sengle G; Semler O; Zaucke F
Cell Signal; 2020 Dec; 76():109789. PubMed ID: 32980496
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Collagen transport and related pathways in Osteogenesis Imperfecta.
Claeys L; Storoni S; Eekhoff M; Elting M; Wisse L; Pals G; Bravenboer N; Maugeri A; Micha D
Hum Genet; 2021 Aug; 140(8):1121-1141. PubMed ID: 34169326
[TBL] [Abstract][Full Text] [Related]
18. Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia.
Kang H; Aryal A C S; Marini JC
Transl Res; 2017 Mar; 181():27-48. PubMed ID: 27914223
[TBL] [Abstract][Full Text] [Related]
19. COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
Lindahl K; Barnes AM; Fratzl-Zelman N; Whyte MP; Hefferan TE; Makareeva E; Brusel M; Yaszemski MJ; Rubin CJ; Kindmark A; Roschger P; Klaushofer K; McAlister WH; Mumm S; Leikin S; Kessler E; Boskey AL; Ljunggren O; Marini JC
Hum Mutat; 2011 Jun; 32(6):598-609. PubMed ID: 21344539
[TBL] [Abstract][Full Text] [Related]
20. Osteogenesis imperfecta and therapeutics.
Morello R
Matrix Biol; 2018 Oct; 71-72():294-312. PubMed ID: 29540309
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]