Results 31 to 40 of about 1,446 (177)

Abstract Thu065: sEng-ANTXR2 Signaling Axis Orchestrates Endothelial Barrier Collapse and Mortality in Sepsis

Arteriosclerosis, Thrombosis, and Vascular Biology
Background: Inflammation resolution failure is a hallmark of lethal sepsis, where persistent neutrophil-impaired efferocytosis drives tissue injury. Yet, the endothelial (EC) mechanisms that dictate neutrophil fate and resolution remain obscure.
Raj Mongre, Michael Rogers
openaire   +2 more sources

Dynamic S-acylation controls CMG2 maturation extracellular matrix regulation and anthrax toxin susceptibility in vivo [PDF]

Nature Communications
CMG2/ANTXR2 functions as a Collagen VI receptor required for extracellular matrix homeostasis and as the primary portal for anthrax toxin entry. Mutations in CMG2 cause Hyaline Fibromatosis Syndrome (HFS), a rare and often fatal genetic disorder ...
Laurence Abrami, Octave Joliot, Sanja Blaskovic, Guillaume Valentin, Covadonga F. Hevia, Vincent Mercier, Béatrice Kunz, Francisco S. Mesquita, F. Gisou van der Goot   +8 more
doaj   +2 more sources

A novel splice site mutation in anthrax toxin receptor 2 (Capillary morphogenesis protein 2) gene results in systemic hyalinosis

Indian Journal of Paediatric Dermatology, 2022
Infantile Systemic Hyalinosis, now included under the unifying term, “hyaline fibromatosis syndrome” (HFS) is a rare, progressive and fatal autosomal recessive disorder characterized by various dermatological manifestations such as thickened skin ...
Indhra Priyadharshini, Sirisha Varala, Tallapaka Karthik Bharadwaj, Ananthula Venkata Krishna   +3 more
doaj   +1 more source

Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation

American Journal of Case Reports, 2022
BACKGROUND Juvenile hyaline fibromatosis is a rare autosomal recessive disorder with unknown prevalence characterized by abnormal development of hyalinized fibrous tissue usually in the skin, mucosa, bone, and often the internal organs. Here, we report the case of a 7-year-old girl from a family with ANTXR2 mutation confirming JHF. CASE REPORT The girl
Choochuen, Pongsakorn, Laochareonsuk, Wison, Tanaanantarak, Pattama, Kanjanapradit, Kanet, Sangkhathat, Surasak   +4 more
openaire   +2 more sources

Infantile systemic Hyalinosis in a 6-month-old male: identification of homozygous ANTXR2 gene mutation. [PDF]

Oxf Med Case Reports
Abstract This case report presents a 6-month-old male infant with a diagnosis of infantile systemic hyalinosis (ISH) and describes the diagnostic difficulties and findings of clinical examinations, laboratory analyses, and imaging studies.
Moshfegh F, Hosseinzade Z, Javanbakht M, Javid A, Mozaffari M.   +4 more
europepmc   +3 more sources

ANTXR2Knock-Out Does Not Result in the Development of Hypertension in Rats [PDF]

American Journal of Hypertension, 2016
Our recent genetic study as well as robust evidences reported by previous genome-wide association studies (GWASs) have indicated that the single nucleotide polymorphism rs16998073, located near gene anthrax toxin receptor 2 (ANTXR2), was significantly associated with hypertension in Asians and Europeans.
Xiaoyan, Liu, Wen, Yuan, Jing, Li, Lei, Yang, Jun, Cai   +4 more
openaire   +2 more sources

Divalent metal ion coordination by residue T118 of anthrax toxin receptor 2 is not essential for protective antigen binding. [PDF]

PLoS ONE, 2006
The protective antigen (PA) subunit of anthrax toxin interacts with the integrin-like I domains of either of two cellular receptors, ANTXR1 or ANTXR2.
Heather M Scobie, John A T Young
doaj   +1 more source

Infantile systemic hyalinosis: report of a case from Bahrain and review of literature

Journal of Biochemical and Clinical Genetics, 2020
Background: Infantile systemic hyalinosis (ISH), an allelic form of hyaline fibromatosis syndrome, is a rare fatal autosomal recessive disorder that is caused by mutations in the CMG2/ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2.
Zahra Alsahlawi, Fatema Naser Alfayez, Sayed Mohamed Hasan, Deena Mohammed, Emtethal Aljishi   +4 more
doaj   +1 more source

Juvenile hyaline fibromatosis: a case report and literatures review

口腔疾病防治, 2022
Objective To investigate the clinicopathological characteristics, imaging manifestations, genetic manifestations, diagnosis and treatment of juvenile hyaline fibromatosis.
XIA Liang, WU Dandan, CHEN Yang
doaj   +1 more source

Cervical Collagen Network Remodeling in Normal Pregnancy and Disrupted Parturition in Antxr2 Deficient Mice [PDF]

Journal of Biomechanical Engineering, 2014
The remodeling of the cervix from a rigid barrier into a compliant structure, which dilates to allow for delivery, is a critical process for a successful pregnancy. Changes in the mechanical properties of cervical tissue during remodeling are hypothesized to be related to the types of collagen crosslinks within the tissue.
Kyoko, Yoshida, Claire, Reeves, Joy, Vink, Jan, Kitajewski, Ronald, Wapner, Hongfeng, Jiang, Serge, Cremers, Kristin, Myers   +7 more
openaire   +2 more sources