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Items: 1 to 20 of 141

1.

Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.

Deuquet J, Abrami L, Difeo A, Ramirez MC, Martignetti JA, van der Goot FG.

Hum Mutat. 2009 Apr;30(4):583-9. doi: 10.1002/humu.20872.

PMID:
19191226
2.

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N.

Am J Hum Genet. 2003 Oct;73(4):791-800. Epub 2003 Aug 21.

3.

Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.

Antaya RJ, Cajaiba MM, Madri J, Lopez MA, Ramirez MC, Martignetti JA, Reyes-Múgica M.

Am J Dermatopathol. 2007 Feb;29(1):99-103.

PMID:
17284973
4.

Characterization of the interaction between anthrax toxin and its cellular receptors.

Liu S, Leung HJ, Leppla SH.

Cell Microbiol. 2007 Apr;9(4):977-87.

5.

Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.

Deuquet J, Lausch E, Guex N, Abrami L, Salvi S, Lakkaraju A, Ramirez MC, Martignetti JA, Rokicki D, Bonafe L, Superti-Furga A, van der Goot FG.

EMBO Mol Med. 2011 Apr;3(4):208-21. doi: 10.1002/emmm.201100124. Epub 2011 Feb 15.

6.

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA.

Am J Hum Genet. 2003 Oct;73(4):957-66. Epub 2003 Sep 12.

7.
8.

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

Heine C, Quitsch A, Storch S, Martin Y, Lonka L, Lehesjoki AE, Mole SE, Braulke T.

Mol Membr Biol. 2007 Jan-Feb;24(1):74-87.

PMID:
17453415
9.

Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.

Fong K, Rama Devi AR, Lai-Cheong JE, Chirla D, Panda SK, Liu L, Tosi I, McGrath JA.

Clin Exp Dermatol. 2012 Aug;37(6):635-8. doi: 10.1111/j.1365-2230.2011.04287.x. Epub 2012 Feb 2.

PMID:
22300424
10.
11.

Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A.

Heine C, Koch B, Storch S, Kohlschütter A, Palmer DN, Braulke T.

J Biol Chem. 2004 May 21;279(21):22347-52. Epub 2004 Mar 9.

12.

Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor.

Scobie HM, Rainey GJ, Bradley KA, Young JA.

Proc Natl Acad Sci U S A. 2003 Apr 29;100(9):5170-4. Epub 2003 Apr 16.

13.

A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family.

De Jaco A, Comoletti D, Kovarik Z, Gaietta G, Radic Z, Lockridge O, Ellisman MH, Taylor P.

J Biol Chem. 2006 Apr 7;281(14):9667-76. Epub 2006 Jan 24.

15.

A novel splice site mutation in ANTXR2 (CMG2) gene results in systemic hyalinosis.

Wang YY, Wen CQ, Wei Z, Jin X.

J Pediatr Hematol Oncol. 2011 Dec;33(8):e355-7. doi: 10.1097/MPH.0b013e318223d0dc.

PMID:
22042284
17.

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis.

El-Kamah GY, Fong K, El-Ruby M, Afifi HH, Clements SE, Lai-Cheong JE, Amr K, El-Darouti M, McGrath JA.

Br J Dermatol. 2010 Jul;163(1):213-5. doi: 10.1111/j.1365-2133.2010.09769.x. Epub 2010 Mar 17. No abstract available.

PMID:
20331448
18.

Infantile systemic hyalinosis: Case report and review of the literature.

Lindvall LE, Kormeili T, Chen E, Ramirez MC, Grum-Tokars V, Glucksman MJ, Martignetti JA, Zaragoza MV, Dyson SW.

J Am Acad Dermatol. 2008 Feb;58(2):303-7. doi: 10.1016/j.jaad.2007.06.008. Review.

PMID:
18222328
19.
20.

EDEM1 regulates ER-associated degradation by accelerating de-mannosylation of folding-defective polypeptides and by inhibiting their covalent aggregation.

Olivari S, Cali T, Salo KE, Paganetti P, Ruddock LW, Molinari M.

Biochem Biophys Res Commun. 2006 Nov 3;349(4):1278-84. Epub 2006 Sep 12.

PMID:
16987498

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