|3.||Wounds and Injuries (Trauma)
|5.||Pseudoxanthoma Elasticum (Gronblad Strandberg Syndrome)
|1.||Rokicki, Dariusz: 2 articles (10/2015 - 04/2011)|
|2.||Deuquet, Julie: 2 articles (01/2015 - 04/2011)|
|3.||Martignetti, John A: 2 articles (04/2011 - 11/2006)|
|4.||Ramirez, Maria Celeste M: 2 articles (04/2011 - 11/2006)|
|5.||Dionyssopoulos, Alexander: 2 articles (02/2011 - 10/2009)|
|6.||Karakiulakis, George: 2 articles (02/2011 - 10/2009)|
|7.||Tzellos, Thrasivoulos G: 2 articles (02/2011 - 10/2009)|
|8.||Papakonstantinou, Eleni: 2 articles (02/2011 - 10/2009)|
|9.||Krasuska-Sławińska, Ewa: 1 article (10/2015)|
|10.||Koeber, Bogumiła: 1 article (10/2015)|
|1.||anthrax toxin receptorsIBA
12/01/2011 - "Here we describe a patient with juvenile hyaline fibromatosis confirmed by clinical and histopathologic findings, and genetic analysis, which revealed a novel homozygous splice site mutation IVS14+1G→T on exon 14 in anthrax toxin receptor 2 gene."
03/01/2007 - "Anthrax toxin receptors and infantile systemic hyalinosis."
11/01/2006 - "Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)."
11/01/2006 - "Although the children were evaluated for a variety of problems, including lysosomal storage disorders and nonaccidental trauma, all eventually underwent genetic analysis of the anthrax toxin receptor 2 gene (ANTRX2) and were diagnosed as having systemic hyalinosis. "
04/01/2012 - "Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. "
10/01/2006 - "Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessively inherited disorder characterized histologically by deposition of hyaline, collagen like substance aberrantly synthesized by the cells of the connective tissue and deposited within many organs, typically within the skin, gingiva, joints and bones. "
12/01/2005 - "A difference from the normal range in collagen profile and perivascular hyaline deposition in the dermis and gingiva has been demonstrated histopathologically in juvenile hyaline fibromatosis (JHF), which is an autosomal recessive disease. "
11/01/1997 - "Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts."
09/01/1995 - "Skin collagen defects in a patient with juvenile hyaline fibromatosis."
09/01/2009 - "Abnormal collagen deposition in fibromas from patient with juvenile hyaline fibromatosis."
|3.||Proteasome Endopeptidase Complex (Proteasome)IBA
|5.||Complementary DNA (cDNA)IBA
10/01/2005 - "We report here two paradigmatic cases in which we found mutations in two novel genes corresponding to two newly described entities (progressive pseudorheumatoid dysplasia, PPD, and infantile systemic hyalinosis, ISH) both conditions in which the clinical picture can mimick primary muscle disease."
|7.||Succinylcholine (Suxamethonium Chloride)FDA LinkGeneric
|9.||Proteins (Proteins, Gene)IBA
|10.||Membrane Proteins (Integral Membrane Proteins)IBA