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Results: 1 to 20 of 61

1.

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.

Rubinato E, Morgan A, D'Eustacchio A, Pecile V, Gortani G, Gasparini P, Faletra F.

Gene. 2014 Jul 25;545(2):290-2. doi: 10.1016/j.gene.2014.05.028. Epub 2014 May 14.

PMID:
24835313
[PubMed - in process]
2.

Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.

Pepin MG, Schwarze U, Singh V, Romana M, Jones-Lecointe A, Byers PH.

Mol Genet Genomic Med. 2013 Nov;1(4):194-205. doi: 10.1002/mgg3.21. Epub 2013 Jun 26.

PMID:
24498616
[PubMed]
Free PMC Article
3.

Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues.

Homan EP, Lietman C, Grafe I, Lennington J, Morello R, Napierala D, Jiang MM, Munivez EM, Dawson B, Bertin TK, Chen Y, Lua R, Lichtarge O, Hicks J, Weis MA, Eyre D, Lee BH.

PLoS Genet. 2014 Jan;10(1):e1004121. doi: 10.1371/journal.pgen.1004121. Epub 2014 Jan 23.

PMID:
24465224
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Biological role of prolyl 3-hydroxylation in type IV collagen.

Pokidysheva E, Boudko S, Vranka J, Zientek K, Maddox K, Moser M, Fässler R, Ware J, Bächinger HP.

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):161-6. doi: 10.1073/pnas.1307597111. Epub 2013 Dec 24.

PMID:
24368846
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

LEPREL1 Expression in Human Hepatocellular Carcinoma and Its Suppressor Role on Cell Proliferation.

Wang J, Xu X, Liu Z, Wei X, Zhuang R, Lu D, Zhou L, Xie H, Zheng S.

Gastroenterol Res Pract. 2013;2013:109759. doi: 10.1155/2013/109759. Epub 2013 Nov 11.

PMID:
24319452
[PubMed]
Free PMC Article
6.

An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1·cartilage-associated protein·cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro.

Ishikawa Y, Bächinger HP.

J Biol Chem. 2013 Nov 1;288(44):31437-46. doi: 10.1074/jbc.M113.498063. Epub 2013 Sep 16.

PMID:
24043621
[PubMed - indexed for MEDLINE]
7.

Sc65 is a novel endoplasmic reticulum protein that regulates bone mass homeostasis.

Gruenwald K, Castagnola P, Besio R, Dimori M, Chen Y, Akel NS, Swain FL, Skinner RA, Eyre DR, Gaddy D, Suva LJ, Morello R.

J Bone Miner Res. 2014 Mar;29(3):666-75. doi: 10.1002/jbmr.2075.

PMID:
23959653
[PubMed - in process]
8.

Posttranslational modifications in type I collagen from different tissues extracted from wild type and prolyl 3-hydroxylase 1 null mice.

Pokidysheva E, Zientek KD, Ishikawa Y, Mizuno K, Vranka JA, Montgomery NT, Keene DR, Kawaguchi T, Okuyama K, Bächinger HP.

J Biol Chem. 2013 Aug 23;288(34):24742-52. doi: 10.1074/jbc.M113.464156. Epub 2013 Jul 16.

PMID:
23861401
[PubMed - indexed for MEDLINE]
9.

A multilevel screening strategy defines a molecular fingerprint of proregenerative olfactory ensheathing cells and identifies SCARB2, a protein that improves regenerative sprouting of injured sensory spinal axons.

Roet KC, Franssen EH, de Bree FM, Essing AH, Zijlstra SJ, Fagoe ND, Eggink HM, Eggers R, Smit AB, van Kesteren RE, Verhaagen J.

J Neurosci. 2013 Jul 3;33(27):11116-35. doi: 10.1523/JNEUROSCI.1002-13.2013.

PMID:
23825416
[PubMed - indexed for MEDLINE]
Free Article
10.

Collagen prolyl 3-hydroxylation: a major role for a minor post-translational modification?

Hudson DM, Eyre DR.

Connect Tissue Res. 2013;54(4-5):245-51. doi: 10.3109/03008207.2013.800867. Epub 2013 Jun 21. Review.

PMID:
23772978
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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. doi: 10.1210/jc.2013-1505. Epub 2013 Jun 14. Review.

PMID:
23771926
[PubMed - indexed for MEDLINE]
12.

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.

Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I, Amr K, Farra C, Lapunzina P, Ruiz-Perez VL, Temtamy S, Aglan M.

Am J Med Genet A. 2013 Jun;161A(6):1354-69. doi: 10.1002/ajmg.a.35938. Epub 2013 Apr 23.

PMID:
23613367
[PubMed - in process]
13.

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. doi: 10.1007/s00223-013-9723-9. Epub 2013 Mar 19. Review.

PMID:
23508630
[PubMed - indexed for MEDLINE]
14.

Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.

Moul A, Alladin A, Navarrete C, Abdenour G, Rodriguez MM.

Fetal Pediatr Pathol. 2013 Oct;32(5):319-25. doi: 10.3109/15513815.2012.754528. Epub 2013 Jan 10.

PMID:
23301918
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Prolyl 3-hydroxylase-1 null mice exhibit hearing impairment and abnormal morphology of the middle ear bone joints.

Pokidysheva E, Tufa S, Bresee C, Brigande JV, Bächinger HP.

Matrix Biol. 2013 Jan;32(1):39-44. doi: 10.1016/j.matbio.2012.11.006. Epub 2012 Nov 24.

PMID:
23186870
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The collagen prolyl hydroxylases are novel transcriptionally silenced genes in lymphoma.

Hatzimichael E, Lo Nigro C, Lattanzio L, Syed N, Shah R, Dasoula A, Janczar K, Vivenza D, Monteverde M, Merlano M, Papoudou-Bai A, Bai M, Schmid P, Stebbing J, Bower M, Dyer MJ, Karran LE, ElguetaKarstegl C, Farrell PJ, Thompson A, Briasoulis E, Crook T.

Br J Cancer. 2012 Oct 9;107(8):1423-32. doi: 10.1038/bjc.2012.380. Epub 2012 Sep 6.

PMID:
22955849
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Deregulation of Rab and Rab effector genes in bladder cancer.

Ho JR, Chapeaublanc E, Kirkwood L, Nicolle R, Benhamou S, Lebret T, Allory Y, Southgate J, Radvanyi F, Goud B.

PLoS One. 2012;7(6):e39469. doi: 10.1371/journal.pone.0039469. Epub 2012 Jun 19.

PMID:
22724020
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

[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 14;66:359-71. Review. Polish.

PMID:
22706122
[PubMed - indexed for MEDLINE]
Free Article
19.

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. doi: 10.1371/journal.pone.0036809. Epub 2012 May 15.

PMID:
22615817
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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 22;287(26):22253-65. doi: 10.1074/jbc.M111.333336. Epub 2012 May 3.

PMID:
22556420
[PubMed - indexed for MEDLINE]
Free PMC Article

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