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Page 1
From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C, Cormier-Daire V. Le Goff C, et al. 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. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791552 Review.
The acromelic dysplasia group is characterized by short stature, short hands and feet, stiff joint, and "muscular" build. Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric dysplasi …
The acromelic dysplasia group is characterized by short stature, short hands and feet, stiff joint, and "muscular" build. Four disorders can …
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
Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, glaucoma and occasionally heart defects. ... …
Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, joi …
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.
Here, we characterize the structural and functional impact of alternative splicing of ADAMTS17, mutations in which cause Weill-Marchesani syndrome 4. Two novel ADAMTS17 splice variants, ADAMTS17A and ADAMTS17B, were investigated by structural modeling, mass s …
Here, we characterize the structural and functional impact of alternative splicing of ADAMTS17, mutations in which cause Weill-Mar …
Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
De Backer J. De Backer J. Verh K Acad Geneeskd Belg. 2009;71(6):335-71. Verh K Acad Geneeskd Belg. 2009. PMID: 20232788 Review.
This may be attributed to a primary contractile dysfunction of the myocardium and is likely related to the underlying alterations in the elastic features of the myocardium, resulting from the microfibrillar defect. This observation is important in the development of new th …
This may be attributed to a primary contractile dysfunction of the myocardium and is likely related to the underlying alterations in the ela …
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. Kutz WE, et al. Hum Mutat. 2008 Dec;29(12):1425-34. doi: 10.1002/humu.20797. Hum Mutat. 2008. PMID: 18567016
We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G>A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS). The Ala25 residue affected by the missense mutation is at the -1 position relative to the …
We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G>A; p.Ala25Thr) causing recessive W …
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.
Weill-Marchesani syndrome is a rare disorder of the connective tissue. Functional variants in ADAMTS10 are associated with Weill-Marchesani syndrome-1. We identified a homozygous missense mutation, c.41T>A, of the ADAMTS10 gene in a 19 …
Weill-Marchesani syndrome is a rare disorder of the connective tissue. Functional variants in ADAMTS10 are associated w …
Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage.
Wang LW, Kutz WE, Mead TJ, Beene LC, Singh S, Jenkins MW, Reinhardt DP, Apte SS. Wang LW, et al. Matrix Biol. 2019 Apr;77:117-128. doi: 10.1016/j.matbio.2018.09.004. Epub 2018 Sep 7. Matrix Biol. 2019. PMID: 30201140 Free PMC article.
Mutations in the secreted metalloproteinase ADAMTS10 cause recessive Weill-Marchesani syndrome (WMS), comprising ectopia lentis, short stature, brachydactyly, thick skin and cardiac valve anomalies. ...Adamts10(-/-) mice had reduced viability on the C57BL/6 b …
Mutations in the secreted metalloproteinase ADAMTS10 cause recessive Weill-Marchesani syndrome (WMS), comprising ectopi …
Surgery of the hereditary subluxated lens in children.
Halpert M, BenEzra D. Halpert M, et al. Ophthalmology. 1996 Apr;103(4):681-6. doi: 10.1016/s0161-6420(96)30633-7. Ophthalmology. 1996. PMID: 8618772
Thirty-seven children (59 eyes) underwent surgery (27 eyes had Marfan syndrome; 23 eyes had essential dislocation; and 9 eyes had a diagnosis of homocystinuria, aniridia, microphthalmia, or Weill-Marchesani syndrome). The indications for surgery were best-cor …
Thirty-seven children (59 eyes) underwent surgery (27 eyes had Marfan syndrome; 23 eyes had essential dislocation; and 9 eyes had a diagnosi …
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
It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autos …
It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of …
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. Kutz WE, et al. J Biol Chem. 2011 May 13;286(19):17156-67. doi: 10.1074/jbc.M111.231571. Epub 2011 Mar 14. J Biol Chem. 2011. PMID: 21402694 Free PMC article.
Autosomal recessive and autosomal dominant forms of Weill-Marchesani syndrome, an inherited connective tissue disorder, are caused by mutations in ADAMTS10 (encoding a secreted metalloprotease) and FBN1 (encoding fibrillin-1, which forms tissue microfibrils), …
Autosomal recessive and autosomal dominant forms of Weill-Marchesani syndrome, an inherited connective tissue disorder, …
15 results