Associated Papers
Investigating the Influence of ANTXR2 Gene Mutations on Protective Antigen Binding for Heightened Anthrax Resistance.
Archana CA et al.
Genes, 2024
Hyaline fibromatosis syndrome with a novel 4.41-kb deletion in ANTXR2 gene: A case report and literature review.
Zhu Y et al.
Molecular Genetics & Genomic Medicine, 2022
35726349 (PubMed )
Supplement: MGG3-10-e1993-s001.docx
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.
Casas-Alba D et al.
Human Mutation, 2018
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
Haidar Z et al.
Bmc Genetics, 2017
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.
Denadai R et al.
American Journal of Medical Genetics. Part A, 2012
The dark sides of capillary morphogenesis gene 2.
Deuquet J et al.
The Embo Journal, 2012
A novel splice site mutation in ANTXR2 (CMG2) gene results in systemic hyalinosis.
Wang YY et al.
Journal of Pediatric Hematology/oncology, 2011
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
Deuquet J et al.
Embo Molecular Medicine, 2011
Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.
Deuquet J et al.
Human Mutation, 2009
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Dowling O et al.
American Journal of Human Genetics, 2003
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Hanks S et al.
American Journal of Human Genetics, 2003
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