Results 1 to 10 of about 1,175 (117)

Genetic Insights Into Hyaline Fibromatosis Syndrome: A Case Report of an ANTXR2 Mutation Featuring a Rare Variant c.697+1G>A [PDF]

Clinical Case Reports
Hyaline fibromatosis syndrome (HFS) is a rare genetic disorder encompassing juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH), caused by mutations in the anthrax toxin receptor 2 gene (ANTXR2).
Shabnam Hajiani Ghotbabadi, Reza Shiari, Shayan Yousufzai, Simin Sharifi   +3 more
doaj   +3 more sources

Endothelial anthrax toxin receptor 2 plays a protective role in liver fibrosis [PDF]

Frontiers in Cell and Developmental Biology, 2023
Hepatocellular carcinoma is one of the leading cancers worldwide and is a potential consequence of fibrosis. Therefore, the identification of key cellular and molecular mechanisms involved in liver fibrosis is an important goal for the development of new
Xiaojuan Huang, Liyin Zhang, Wei Luo, Yu Zeng, Xiaoxue Li, Nan Yang, Wenwen Huang, Bi-Sen Ding   +7 more
doaj   +2 more sources

Identification and structural characterization of anthrax toxin receptor 2 as the Clostridium perfringens NetF receptor [PDF]

Nature Communications
Hemolysin β-pore-forming toxins (βPFTs) are key virulence factors of Clostridium perfringens, associated with severe diseases in humans and animals. Yet, the mechanisms by which Clostridium βPFTs recognize and engage specific target cells remain poorly ...
Chang Wang, Filippo Cattalani, Ioan Iacovache, Arunasalam Naguleswaran, Faezeh Farhoosh, Jan Franzen, Laurence Abrami, F. Gisou van der Goot, Horst Posthaus, Benoît Zuber   +9 more
doaj   +2 more sources

Hyaline fibromatosis syndrome with a novel 4.41-kb deletion in ANTXR2 gene: A case report and literature review

Molecular Genetics & Genomic Medicine, 2022
Background Hyaline fibromatosis syndrome is a rare autosomal recessive disorder with ANTXR2 mutations characterised by the accumulation of hyaline substances in tissues. We present a case with the severe form—infantile systemic hyalinosis (ISH)—with long
Bingbing Wu, Dahui Wang, Guo-min Li
exaly   +2 more sources

Early Recognition of Infantile Systemic Hyalinosis in a Palestinian Infant: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Infantile systemic hyalinosis should be suspected in infants with contractures, skin changes, and diarrhea in consanguineous families. Early recognition allows timely genetic testing, supportive care, and counseling, improving family outcomes despite poor prognosis.
Jarrar L, Mutan S, Malhis L, Mashni A, Ajlone A, Zaid M, Abuaisha S.   +6 more
europepmc   +2 more sources

Skeletal Muscle Biomarkers of Amyotrophic Lateral Sclerosis: A Large-Scale, Multi-Cohort Proteomic Study. [PDF]

Ann Neurol
Objective Biomarkers with clear contexts of use are important tools for amyotrophic lateral sclerosis (ALS) therapy development. Understanding their longitudinal trajectory in the untreated state is key to their use as potential markers of pharmacodynamic response.
Dergai O, Wuu J, Koziczak-Holbro M, Malaspina A, Granit V, Hernandez JP, Cooley A, Sachdev R, Yu L, Bidinosti M, Flotte L, Nash M, Jennings LL, Berry JD, Bruijn LI, Brachat S, Benatar M.   +16 more
europepmc   +2 more sources

Discovery and validation of programmed cell death–associated key biomarker genes in ischemic stroke via ssGSEA/WGCNA and LASSO–SVM-RFE [PDF]

Frontiers in Molecular Biosciences
BackgroundIschemic stroke (IS) currently lacks well-characterized peripheral-blood biomarkers that capture early, pathway-level biology. Programmed cell death (PCD) pathways may shape post-stroke neuroinflammation and could yield clinically informative ...
Qi Jia, Qi Jia, Pengtao Zhang, Pengtao Zhang, Qianqian Liu, Qianqian Liu, Enze Sang, Enze Sang, Zhengwen Chen, Zhengwen Chen, Junjie Shao, Junjie Shao, Yuhao Ding, Yuhao Ding, Faguang Bai, Qingfeng Huang, Qingfeng Huang, Qingfeng Huang, Qingfeng Huang   +18 more
doaj   +2 more sources

Potential mechanism of Luoshi Neiyi prescription in endometriosis based on serum pharmacochemistry and network pharmacology [PDF]

Frontiers in Pharmacology
IntroductionEndometriosis (EMs) is characterized by ectopic growth of active endometrial tissue outside the uterus. The Luoshi Neiyi prescription (LSNYP) has been extensively used for treating EMs in China. However, data on the active chemical components
Lizheng Wu, Shuhong Lin, Yongjun Hu, Shangwen Jing, Bowen Sun, Xiaoxin Chen, Jinjin Jia, Cheng Zeng, Fangli Pei   +8 more
doaj   +2 more sources

Clinicopathological Challenge: A Progressively Enlarging Hardened Skin Plaque. [PDF]

Int J Dermatol
ABSTRACT Stiff skin syndrome (SSS) is a rare connective tissue disease manifesting as a progressive, non‐inflammatory fibrosis that causes the skin and soft tissues to harden. It can result in restricted joint movement, particularly affecting the shoulder and pelvic girdle. A segmental variant with a better prognosis has been described.
Fernández Martínez M, Rivera Lira FP, Roldán-Marín R, Toussaint-Caire S.   +3 more
europepmc   +2 more sources

Placental and Cord Blood DNA Methylation Changes Associated With Gestational Diabetes Mellitus in a Marginalized Population: The Untold Role of Saturated Fats. [PDF]

Mol Nutr Food Res
Excessive intake of saturated fats during pregnancy is associated with DNA hypomethylation in placental and cord blood samples from women affected with gestational diabetes mellitus (GDM), impacting, in particular, the cord blood promoter of ZFP57, a key regulator of early embryonic epigenetic programming.
Ahmad F, Uzair SA, Lakshmanan AP, Alabduljabbar S, Ahmed SH, Kabeer BSA, Marr AK, Kino T, Brummaier T, McGready R, Nosten F, Chaussabel D, Khodor SA, Terranegra A.   +13 more
europepmc   +2 more sources