Results 41 to 50 of about 1,446 (177)
BMC Oral Health, 2021 Background Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder caused by mutations in the gene for anthrax toxin receptor-2 (ANTXR2).
Yiying Liu +4 more
doaj +1 more source
Sarcoma care in the era of precision medicine
Journal of Internal Medicine, Volume 294, Issue 6, Page 690-707, December 2023., 2023 Abstract Sarcoma subtype classification is currently mainly based upon histopathological morphology. Molecular analyses have emerged as an efficient addition to the diagnostic workup and sarcoma care. Knowledge about the sarcoma genome increases, and genetic events that can either support a histopathological diagnosis or suggest a differential ...
Karin Wallander +6 more
wiley +1 more source
Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation
Indian Journal of Paediatric Dermatology, 2022 Infantile systemic hyalinosis (ISH; MIM #236490) and juvenile hyaline fibromatosis (MIM #228600) represent two spectrums of the rare autosomal recessive disorder, the hyaline fibromatosis syndrome caused by mutations in ANTXR2/CMG2 encoding capillary ...
Sandipan Dhar +4 more
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Roles of Anthrax Toxin Receptor 2 in Anthrax Toxin Membrane Insertion and Pore Formation
Toxins, 2016 Interaction between bacterial toxins and cellular surface receptors is an important component of the host-pathogen interaction. Anthrax toxin protective antigen (PA) binds to the cell surface receptor, enters the cell through receptor-mediated ...
Jianjun Sun, Pedro Jacquez
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AB0113 The relationship of polymorphisms of ANTXR2 gene with ankylosing spondylitis in chinese han [PDF]
Annals of the Rheumatic Diseases, 2017 Background ANTXR2 as the protein binding to collagen IV and laminin, may be involved in extracellular matrix adhesion. GWAS study in European had found its SNPs has relationship with ankylosing spondylitis, but these variations were not related to Chinese people.
Q Lv, X Wu, J Gu
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A receptor-based switch that regulates anthrax toxin pore formation. [PDF]
PLoS Pathogens, 2011 Cellular receptors can act as molecular switches, regulating the sensitivity of microbial proteins to conformational changes that promote cellular entry. The activities of these receptor-based switches are only partially understood.
Rosemarie M Pilpa +4 more
doaj +1 more source
Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome
Acta Stomatologica Croatica, 2020 Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive genetic disorder characterized by accumulation of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement.
Predrag Knežević +5 more
doaj +1 more source
Journal of Medical Case Reports, 2023 Background Hyaline fibromatosis syndrome is a rare progressive autosomal recessive connective tissue disorder caused by a mutation in the ANTXR2/CMG2 gene.
Mariam M. Ismail +3 more
doaj +1 more source
Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation
Advances in Genomics and Genetics, 2018 Edith Schussler,1 Rita V Linkner,2 Jacob Levitt,2 Lakshmi Mehta,3 John A Martignetti,1,3 Kimihiko Oishi1,3 1Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA; 2Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, NY, USA; 3Department of Genetics and Genomic Sciences, Icahn School of Medicine ...
Schussler,Edith +5 more
openaire +5 more sources
The Disulfide Bond Cys255-Cys279 in the Immunoglobulin-Like Domain of Anthrax Toxin Receptor 2 Is Required for Membrane Insertion of Anthrax Protective Antigen Pore. [PDF]
PLoS ONE, 2015 Anthrax toxin receptors act as molecular clamps or switches that control anthrax toxin entry, pH-dependent pore formation, and translocation of enzymatic moieties across the endosomal membranes.
Pedro Jacquez +12 more
doaj +1 more source