1 | ADAMTSL2, GLSD1
|
| Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
|
| Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V.
|
| J Med Genet 48(6):417-21. Epub 2011 Mar 17.
2011
|
2 | ADAMTSL1, ADAMTSL2, ADAMTSL3, ADAMTSL4, ADAMTSL5, THSD4
|
| ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation.
|
| Tsutsui K, Manabe R, Yamada T, Nakano I, Oguri Y, Keene DR, Sengle G, Sakai LY, Sekiguchi K.
|
| J Biol Chem 285(7):4870-82. Epub 2009 Nov 23. 2010
|
3 | ADAMTSL2, GLSD1
|
| ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
|
| Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V.
|
| Nat Genet at Genet. 2008 Aug 1. [Epub ahead of print] 2008
|
4 | ADAMTSL2
|
| ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis.
|
| Koo BH, Le Goff C, Jungers KA, Vasanji A, O'Flaherty J, Weyman CM, Apte SS.
|
| Matrix Biol 26(6):431-41. Epub 2007 Mar 30.
2007
|
5 | ADAMTSL2, ARMCX2, C2CD5, CACNA2D2, CEP104, CEP68, DHX16, ERAP1, GPRIN2, HDAC5, IFT140, IQSEC2, JAKMIP2, KIAA0513, KIAA0556, KIAA0564, KIAA0586, KIF5C, LCMT2, LRRC37A, MARCHF6, MED13, NCDN, PCLO, PIP5K1C, PLCB1, PLEKHG3, PPFIA4, PPRC1, PRPF4B, ProSAPiP1, RASA4, SARM1, SMC5, ST18, TRIM2, URB1, USP15, ZCCHC14, ZNF292, ZNF451
|
| Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
|
| Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
|
| DNA Res 5(1):31-9. 1998
|