Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
1997 1
2003 1
2005 1
2006 1
2007 2
2010 2
2014 1
2015 1
2019 1
2021 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

13 results

Results by year

Filters applied: . Clear all
Page 1
Alternative splicing of the metalloprotease ADAMTS17 spacer regulates secretion and modulates autoproteolytic activity.
Balic Z, Misra S, Willard B, Reinhardt DP, Apte SS, Hubmacher D. Balic Z, et al. FASEB J. 2021 Feb;35(2):e21310. doi: 10.1096/fj.202001120RR. FASEB J. 2021. PMID: 33484187 Free PMC article.
This insertion results in differential autoproteolysis of ADAMTS17, and thus, predicts altered proteolytic activity against other substrates. The second variant, ADAMTS17B, results from an in-frame exon deletion and prevents ADAMTS17B secretion. ...
This insertion results in differential autoproteolysis of ADAMTS17, and thus, predicts altered proteolytic activity against other sub …
A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.
Yi H, Zha X, Zhu Y, Lv J, Hu S, Kong Y, Wu G, Yang Y, He Y. Yi H, et al. J Hum Genet. 2019 Jul;64(7):681-687. doi: 10.1038/s10038-019-0608-2. Epub 2019 Apr 25. J Hum Genet. 2019. PMID: 31019231
Genome-wide homozygosity map was used to identify the disease caused locus. SNVs and INDELs were further predicted with MutationTaster, LRT, SIFT and SiPhy and compared to dbSNP150 and 1000 Genomes project. ...The nonsense mutation in ADAMTS17 was analyzed in silico to exp …
Genome-wide homozygosity map was used to identify the disease caused locus. SNVs and INDELs were further predicted with MutationTaste …
A case of Weill-Marchesani syndrome with inversion of chromosome 15.
Chung JL, Kim SW, Kim JH, Kim TI, Lee HK, Kim EK. Chung JL, et al. Korean J Ophthalmol. 2007 Dec;21(4):255-60. doi: 10.3341/kjo.2007.21.4.255. Korean J Ophthalmol. 2007. PMID: 18063893 Free PMC article.
RESULTS: Due to impending corneal decompensation, phacoemulsification and suture fixation of the intraocular lens were performed. The operation and postoperative course were uneventful. Three months postoperatively, the visual acuity was 20/30 (OD) and 20/40 (OS) without c …
RESULTS: Due to impending corneal decompensation, phacoemulsification and suture fixation of the intraocular lens were performed. The operat …
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, Laccone F. Steinkellner H, et al. Eur J Hum Genet. 2015 Sep;23(9):1186-91. doi: 10.1038/ejhg.2014.264. Epub 2014 Dec 3. Eur J Hum Genet. 2015. PMID: 25469541 Free PMC article.
The ADAMTS10 missense mutation was analysed in silico, with conflicting results as to its effects on protein function, but it was predicted to affect the leader sequence. Molecular characterisation in HEK293 Ebna cells revealed an intracellular mis-targeting of the ADAMTS1 …
The ADAMTS10 missense mutation was analysed in silico, with conflicting results as to its effects on protein function, but it was predict …
A homozygous mutation in LTBP2 causes isolated microspherophakia.
Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH. Kumar A, et al. Hum Genet. 2010 Oct;128(4):365-71. doi: 10.1007/s00439-010-0858-8. Epub 2010 Jul 9. Hum Genet. 2010. PMID: 20617341
DNA sequence analysis of one of the genes, LTBP2, detected a homozygous duplication (insertion) mutation, c.5446dupC, in the last exon (exon 36) in affected family members. This homozygous mutation is predicted to elongate the LTBP2 protein by replacing the last 6 amino ac …
DNA sequence analysis of one of the genes, LTBP2, detected a homozygous duplication (insertion) mutation, c.5446dupC, in the last exon (exon …
Carpal tunnel syndrome in children.
Van Meir N, De Smet L. Van Meir N, et al. Acta Orthop Belg. 2003 Oct;69(5):387-95. Acta Orthop Belg. 2003. PMID: 14648946 Review.
13 results