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Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani …

Kutz(Wendy E),Wang(Lauren W),Dagoneau(Nathal… Hum Mutat 2009-01-08

...ADAMTS10 signal peptidase cleavage site. p.Ala25Thr substituted full-length ADAMTS10 showed consistent and significantly...

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia …

Morales(Jose),Al-Sharif(Latifa),Khalil(Dania… Am J Hum Genet 2009-12-22

...ADAMTS10 and FBN1 genes, respectively. Here we report on 13 patients from seven unrelated families from the Arabian Peni...

Clinical and genetic investigation of isolated microspherophakia in a consangui…

Ben Yahia(Salim),Ouechtati(Farah),Jelliti(Be… J Hum Genet 2009-12-15

...ADAMTS10 gene. As the locus responsible for isolated microspherophakia is still unknown, because the reported cases are ...

Genetic and molecular aspects of acromelic dysplasia.

Le Goff(Carine),Cormier-Daire(Valerie) Pediatr Endocrinol Rev 2009-05-21

...ADAMTS10 mutations in the recessive form of WMS and Fibrillin 1 mutations in the dominant form of WMS. More recently, we...

Functional evolution of ADAMTS genes: evidence from analyses of phylogeny and g…

Nicholson(Ainsley C),Malik(Shehre-Banoo),Log… BMC Evol Biol 2006-04-13

...ADAMTS10), thrombotic thrombocytopenic purpura (ADAMTS13), and Ehlers-Danlos syndrome type VIIC (ADAMTS2) in humans and ...

Discovery and characterization of a novel, widely expressed metalloprotease, AD…

Somerville(Robert P T),Jungers(Katherine A),… J Biol Chem 2005-01-11

...ADAMTS10, a novel metalloprotease encoded by a locus on human chromosome 19 and mouse chromosome 17. ADAMTS10 has the ty...

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

Dagoneau(Nathalie),Benoist-Lasselin(Catherin… Am J Hum Genet 2005-01-03

...ADAMTS10, a disintegrin and metalloprotease with thrombospondin motifs. A total of three distinct mutations were identif...

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

McInerney-Leo(Aideen M),Le Goff(Carine),Leo(… J Med Genet 0000-00-00

...ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and ...

Influence of Age on Ocular Biomechanical Properties in a Canine Glaucoma Model …

Palko(Joel R),Morris(Hugh J),Pan(Xueliang),H… PLoS One 0000-00-00

...ADAMTS10 mutation, whose extracellular matrix is concomitantly influenced by the mutation and an increased mechanical lo...

Ikaros and its interacting partner CtBP target the metalloprotease ADAMTS10 to …

Shen(Zhongyi),Asa(Sylvia L),Ezzat(Shereen) Mol Cell Endocrinol 0000-00-00

...ADAMTS10 emerged as a validated target. We show the ability of Ikaros to bind the ADAMTS10 promoter, influence its trans...

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