Results 151 to 160 of about 1,446 (177)

Infantile systemic hyalinosis in an Iranian family with a mutation in theCMG2/ANTXR2gene

Clinical and Experimental Dermatology, 2015
Infantile systemic hyalinosis (ISH) is an extremely rare genodermatosis, characterized by thickened skin, joint contractures and subcutaneous nodules. ISH is caused by mutations in the CMG2 gene, which encodes a protein of unknown function. In this report, we describe a patient with ISH, who was a twin born to a consanguineous Iranian couple, and who ...
H, Vahidnezhad, V, Ziaee, L, Youssefian, Q, Li, S, Sotoudeh, J, Uitto   +5 more
openaire   +2 more sources

A Novel Splice Site Mutation in ANTXR2 (CMG2) Gene Results in Systemic Hyalinosis

Journal of Pediatric Hematology/Oncology, 2011
Systemic hyalinosis is a rare autosomal recessive inheritance disease characterized by accumulation of amorphous, unidentified hyaline material in skin and other organs, which leads to papulonodular skin lesions, gingival hypertrophy, flexion contractures of the joints, and large subcutaneous tumors.
Yun-Ying, Wang, Cheng-Quan, Wen, Zhen, Wei, Xin, Jin   +3 more
openaire   +2 more sources

ANTXR2 and IL-1R2 polymorphisms are not associated with ankylosing spondylitis in Chinese Han population

Rheumatology International, 2010
Strong associations between the polymorphisms of anthrax toxin receptor 2 (ANTXR2) and interleukin-1 receptor 2 (IL-1R2) and ankylosing spondylitis (AS) were identified through genome-wide scan by Australo-Anglo-American Spondyloarthritis Consortium very recently.
Chao, Chen, Xuesong, Zhang, Yan, Wang
exaly   +3 more sources

Determination of IL1 R2, ANTXR2, CARD9, and SNAPC4 single nucleotide polymorphisms in Iranian patients with ankylosing spondylitis

Rheumatology International, 2015
Ankylosing spondylitis (AS) is a chronic inflammatory disease of unknown origin, while both genetic and environmental factors have been demonstrated to be etiologically involved. Recent genome-wide association and replication studies have suggested that anthrax toxin receptor 2 (ANTXR2), interleukin-1 receptor 2 (IL1R2), caspase recruitment domain ...
Masoud Garshasbi, Maani Beigy
exaly   +3 more sources

ANTXR2 is a potential causative gene in the genome-wide association study of the blood pressure locus 4q21

Hypertension Research, 2014
Hypertension is the most prevalent cardiovascular disease worldwide, but its genetic basis is poorly understood. Recently, genome-wide association studies identified 33 genetic loci that are associated with blood pressure. However, it has been difficult to determine whether these loci are causative owing to the lack of functional analyses.
Bermseok Oh
exaly   +3 more sources

Juvenile hyaline fibromatosis caused by mutation of the ANTXR2 gene: A case report*

Dermato Mag, 2023
Nadia Mebrouk, Badr Sououd Benjelloun Dakhama, Yasmine Lachkar, Bouchra Chkirate, Elmostafa El Fahime, Omar Askander, Najat Lamalmi, Najlae Rhorfi, Latifa Chat, Asmaa Mdaghri Alaoui   +9 more
openaire   +1 more source

Juvenile Hyaline Fibromatosis Syndrome: A Novel Variant in the ANTXR2 Gene Causing Severe Phenotype

Pediatric Dermatology
ABSTRACT Hyaline fibromatosis syndrome (HFS) is an autosomal recessive disorder caused by variants in the ANTXR2 gene. Clinically, HFS is characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures, and bone involvement in variable degrees. In
Ilayda Akyon, Ozgenur Ozen, Mustafa Dogan, Zafer Turkoglu, Dilay Bastug, Fatmagul Kusku Cabuk, Alper Gezdirici   +6 more
openaire   +2 more sources

PA29 A rare case of infantile systemic hyalinosis due to ANTXR2 gene mutation

British Journal of Dermatology
Abstract Infantile systemic hyalinosis (ISH) is a rare but fatal autosomal recessive multisystem disease under the umbrella of hyaline fibromatoses syndromes. It is characterized by multiorgan deposition of hyaline secondary to a dysfunctional anthrax toxin receptor 2 gene (ANTXR2). ISH presents with a range of diagnostically challenging
Yuetha Lachana, Ruwani Katugampola
openaire   +1 more source

Hyaline fibromatosis syndrome with ANTXR2 gene mutation: A new variant of genetic mutation in previously unreported location of ANTXR2 gene

Journal of the American Academy of Dermatology, 2019
openaire   +1 more source

[Identification of novel compound heterozygous mutations in the ANTXR2 gene in a Chinese patient with juvenile hyaline fibromatosis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018
To identify pathogenic mutations of ANTXR2 gene in a patient with juvenile hyaline fibromatosis.Genomic DNA was extracted from peripheral venous blood sample from the patient. All coding exons (exons 1-17) and splicing sites of the ANTXR2 gene were amplified with PCR. Potential mutations were detected with direct sequencing of the PCR products.
Yongling, Zhang, Ru, Li, Yan, Li, Can, Liao   +3 more
openaire   +1 more source