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Acromelic dysplasias: similarities and differences in clinical and molecular fi…

Güneş(N),Türk(S),Onur(H),Gür(K),Yüksel Elgin… Eur J Pediatr 2026-05-19

...ADAMTS10 (Weill-Marchesani syndrome type 1 (WMS1), n = 3), and ADAMTS17 (Weill-Marchesani syndrome type 4 (WMS4), n = 1)...

ADAMTS and ADAMTSL mutations in connective tissue disorders.

Alcocer(AD),Rush(EH),Mead(TJ) Physiology (Bethesda) 2026-03-31

...ADAMTS10 and ADAMTS17, Ectopia lentis from ADAMTSL4, thoracic aortic aneurysms and dissection from ADAMTSL6, valvular di...

A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in …

Li(M),Bai(R),Lian(Y),Shu(C),Li(H),Sheng(X) BMC Med Genomics 2026-02-04

...ADAMTS10, ADAMTS17, or LTBP2. Despite differences in inheritance patterns, the clinical manifestations are consistent. T...

Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics.

Dubail(Johanne),Apte(Suneel S) Matrix Biol 2016-03-22

...ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2 and ADAMTSL4 identified essential roles for each gene, but also suggested potenti...

Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Gl…

Oliver(James A C),Forman(Oliver P),Pettitt(L… PLoS One 2016-06-07

...ADAMTS10 (CFA20) have previously been associated with primary open angle glaucoma (POAG) in the Beagle and Norwegian Elk...

Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinic…

Ziganshin(Bulat A),Bailey(Allison E),Coons(C… Ann Thorac Surg 2016-02-08

...ADAMTS10, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ELN, FBLN4, FLNA, FBN1, FBN2, MYH11, MYLK, NOTCH1, PRKG1, SLC2A10, SMA...

Identification of genes associated with osteoarthritis by microarray analysis.

Sun(Jianwei),Yan(Bingshan),Yin(Wangping),Zha… Mol Med Rep 2016-06-27

...ADAMTS10 and BGN were associated with proteinaceous ECM. The top protein domain was IPR001752: Kinesin motor region invo...

ADAMTS proteins as modulators of microfibril formation and function.

Hubmacher(Dirk),Apte(Suneel S) Matrix Biol 2016-08-01

...ADAMTS10, ADAMTS17, ADAMTSL2 and ADAMTSL4 were found to phenocopy rare genetic disorders caused by mutations affecting f...

Changes in posterior scleral collagen microstructure in canine eyes with an ADA…

Boote(Craig),Palko(Joel R),Sorensen(Thomas),… Mol Vis 2016-11-08

...ADAMTS10 mutation.,Collagen orientation, anisotropy degree (proportion of preferentially aligned collagen), and relative...

Identification and molecular characterisation of a homozygous missense mutation…

Steinkellner(Hannes),Etzler(Julia),Gogoll(La… Eur J Hum Genet 2016-05-24

Weill-Marchesani syndrome is a rare disorder of the connective tissue. Functional variants in ADAMTS10 are associated wi...

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