Associated Papers
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs
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
Comparative sequence analysis of patient-matched primary colorectal cancer, metastatic, and recurrent metastatic tumors after adjuvant FOLFOX chemotherapy.
Harada K et al.
Bmc Cancer, 2019
30898102 (PubMed )
Supplement: 12885_2019_5479_MOESM5_ESM.xlsx › Sheet1
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
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
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
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