Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors
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Roles of Anthrax Toxin Receptor 2 in Anthrax Toxin Membrane Insertion and Pore FormationThe delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiologyThe Disulfide Bond Cys255-Cys279 in the Immunoglobulin-Like Domain of Anthrax Toxin Receptor 2 Is Required for Membrane Insertion of Anthrax Protective Antigen PoreHyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case reportExpression and purification of the functional ectodomain of human anthrax toxin receptor 2 in Escherichia coli Origami B cells with assistance of bacterial Trigger FactorA missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy.Differential dependence on N-glycosylation of anthrax toxin receptors CMG2 and TEM8The dark sides of capillary morphogenesis gene 2.Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.A connexin50 mutant, CX50fs, that causes cataracts is unstable, but is rescued by a proteasomal inhibitor.Hyaline Fibromatosis Syndrome: A Rare Inherited DisorderTherapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.Ubiquitin-dependent folding of the Wnt signaling coreceptor LRP6Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2.In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy.The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading systemTEM8 functions as a receptor for uPA and mediates uPA-stimulated EGFR phosphorylation
P2860
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P2860
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Hyaline fibromatosis syndrome ...... scued by proteasome inhibitors
@ast
Hyaline fibromatosis syndrome ...... scued by proteasome inhibitors
@en
type
label
Hyaline fibromatosis syndrome ...... scued by proteasome inhibitors
@ast
Hyaline fibromatosis syndrome ...... scued by proteasome inhibitors
@en
prefLabel
Hyaline fibromatosis syndrome ...... scued by proteasome inhibitors
@ast
Hyaline fibromatosis syndrome ...... scued by proteasome inhibitors
@en
P2093
P2860
P356
P1476
Hyaline fibromatosis syndrome ...... scued by proteasome inhibitors
@en
P2093
Asvin Lakkaraju
Dariusz Rokicki
Ekkehart Lausch
Françoise G van der Goot
John A Martignetti
Julie Deuquet
Laurence Abrami
Luisa Bonafe
Maria Celeste M Ramirez
Nicolas Guex
P2860
P304
P356
10.1002/EMMM.201100124
P577
2011-02-15T00:00:00Z