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Results: 15

1.

SuperTAG methylation-specific digital karyotyping reveals uremia-induced epigenetic dysregulation of atherosclerosis-related genes.

Zawada AM, Rogacev KS, Hummel B, Grün OS, Friedrich A, Rotter B, Winter P, Geisel J, Fliser D, Heine GH.

Circ Cardiovasc Genet. 2012 Dec;5(6):611-20. doi: 10.1161/CIRCGENETICS.112.963207. Epub 2012 Oct 16.

PMID:
23074332
[PubMed - indexed for MEDLINE]
Free Article
2.

From tall to short: the role of TGFβ signaling in growth and its disorders.

Le Goff C, Cormier-Daire V.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53. doi: 10.1002/ajmg.c.31337. Epub 2012 Jul 12. Review.

PMID:
22791552
[PubMed - indexed for MEDLINE]
3.

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.

Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS.

Ophthalmic Genet. 2012 Dec;33(4):235-9. doi: 10.3109/13816810.2012.666708. Epub 2012 Apr 9.

PMID:
22486325
[PubMed - indexed for MEDLINE]
4.

The ADAMTS(L) family and human genetic disorders.

Le Goff C, Cormier-Daire V.

Hum Mol Genet. 2011 Oct 15;20(R2):R163-7. doi: 10.1093/hmg/ddr361. Epub 2011 Aug 31. Review.

PMID:
21880666
[PubMed - indexed for MEDLINE]
Free Article
5.

Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function.

Hubmacher D, Apte SS.

Cell Mol Life Sci. 2011 Oct;68(19):3137-48. doi: 10.1007/s00018-011-0780-9. Epub 2011 Aug 20. Review.

PMID:
21858451
[PubMed - indexed for MEDLINE]
6.

Variations in aggrecan localization and gene expression patterns characterize increasing stages of human intervertebral disk degeneration.

Gruber HE, Hoelscher GL, Ingram JA, Bethea S, Zinchenko N, Hanley EN Jr.

Exp Mol Pathol. 2011 Oct;91(2):534-9. doi: 10.1016/j.yexmp.2011.06.001. Epub 2011 Jun 12.

PMID:
21689646
[PubMed - indexed for MEDLINE]
7.

ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts.

Kutz WE, Wang LW, Bader HL, Majors AK, Iwata K, Traboulsi EI, Sakai LY, Keene DR, Apte SS.

J Biol Chem. 2011 May 13;286(19):17156-67. doi: 10.1074/jbc.M111.231571. Epub 2011 Mar 14.

PMID:
21402694
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma.

Kuchtey J, Olson LM, Rinkoski T, Mackay EO, Iverson TM, Gelatt KN, Haines JL, Kuchtey RW.

PLoS Genet. 2011 Feb;7(2):e1001306. doi: 10.1371/journal.pgen.1001306. Epub 2011 Feb 17.

PMID:
21379321
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N.

Am J Hum Genet. 2009 Nov;85(5):558-68. doi: 10.1016/j.ajhg.2009.09.011.

PMID:
19836009
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.

Ben Yahia S, Ouechtati F, Jelliti B, Nouira S, Chakroun S, Abdelhak S, Khairallah M.

J Hum Genet. 2009 Sep;54(9):550-3. doi: 10.1038/jhg.2009.75. Epub 2009 Aug 21.

PMID:
19696795
[PubMed - indexed for MEDLINE]
11.

Genetic and molecular aspects of acromelic dysplasia.

Le Goff C, Cormier-Daire V.

Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Review.

PMID:
19396027
[PubMed - indexed for MEDLINE]
12.

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme.

Kutz WE, Wang LW, Dagoneau N, Odrcic KJ, Cormier-Daire V, Traboulsi EI, Apte SS.

Hum Mutat. 2008 Dec;29(12):1425-34. doi: 10.1002/humu.20797.

PMID:
18567016
[PubMed - indexed for MEDLINE]
13.

Functional evolution of ADAMTS genes: evidence from analyses of phylogeny and gene organization.

Nicholson AC, Malik SB, Logsdon JM Jr, Van Meir EG.

BMC Evol Biol. 2005 Feb 4;5:11.

PMID:
15693998
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V.

Am J Hum Genet. 2004 Nov;75(5):801-6. Epub 2004 Sep 13.

PMID:
15368195
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Discovery and characterization of a novel, widely expressed metalloprotease, ADAMTS10, and its proteolytic activation.

Somerville RP, Jungers KA, Apte SS.

J Biol Chem. 2004 Dec 3;279(49):51208-17. Epub 2004 Sep 7.

PMID:
15355968
[PubMed - indexed for MEDLINE]
Free Article

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