Results 21 to 30 of about 1,446 (177)

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

Molecular Genetics & Genomic Medicine, 2020
Background Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2 which leads to loss of function of the transmembrane protein anthrax toxin receptor 2.
Bettina Härter, Francesco Benedicenti, Daniela Karall, Ekkehard Lausch, Gisela Schweigmann, Franco Stanzial, Andrea Superti‐Furga, Sabine Scholl‐Bürgi   +7 more
doaj   +2 more sources

Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene

Clinical and Experimental Dermatology, 2012
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive genetic disorder characterized by dermal and subcutaneous fibromatosis, joint contractures and bone deformities. The condition usually presents at birth, resulting in death in infancy. ISH is caused by mutations in the anthrax toxin receptor 2 gene, ANTXR2, also known as CMG2.
K. Fong, A. R. Rama Devi, J. E. Lai-Cheong, D. Chirla, S. K. Panda, L. Liu, I. Tosi, J. A. McGrath   +7 more
core   +5 more sources

Exploring the Genetic Heritage of the Yucatán Black Hairless Pig: A Comparative Worldwide ROH Study [PDF]

Veterinary Sciences
The Yucatán Black Hairless Pig (YBHP) is an indigenous Mexican breed shaped by tropical environments and traditional management systems. This study aimed to characterize its runs of homozygosity (ROH) and compare its ROH patterns with those of indigenous
Jorge Barzilai Lara-Castillo, Clemente Lemus-Flores, Raúl Sansor-Nah, Néstor Gerardo Michel-Regalado, Fernando Grageola-Núñez, William Orlando Burgos-Paz, Job Oswaldo Bugarín-Prado   +6 more
doaj   +2 more sources

Very Rare Case of Hyaline Fibromatosis Syndrome Successfully Treated with Surgical Excision and Review of Literature [PDF]

Archives of Plastic Surgery
Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder caused by ANTXR2 gene mutations, resulting in abnormal deposition of hyaline material in connective tissues. Fewer than 100 cases have been documented worldwide.
Yong Uk Jung, Byung-jun Kim, Eun-Hee Kim
doaj   +2 more sources

Epigenome-wide analysis identifies DNA methylation mediators of treatment-related cardiometabolic risk in survivors of childhood cancer [PDF]

Nature Communications
Childhood cancer survivors face increased cardiometabolic risks from cancer treatment exposures, yet mechanisms remain unclear. Here, epigenome-wide analysis identifies 1893 DNA methylation (DNAm) sites in peripheral-blood-mononuclear-cells (PBMCs ...
Tiffany Eulalio, Yoonji Kim, Xiaoxi Meng, Noel-Marie Plonski, Kyla Shelton, Heather Mulder, Emily Plyler, John Easton, Xiang Chen, Jinghui Zhang, Emily Walker, Geoffrey Neale, Min Ni, John T. Lucas, Nilanjan Chatterjee, Ziqiao Wang, Deokumar Srivastava, Bonnie Ky, Stephanie B. Dixon, Kirsten K. Ness, Melissa M. Hudson, Gregory T. Armstrong, Zhaoming Wang   +22 more
doaj   +2 more sources

Identification and verification of genes associated with hypoxia microenvironment in Alzheimer’s disease [PDF]

Scientific Reports, 2023
As the incidence of Alzheimer's disease (AD) increases year by year, more people begin to study this disease. In recent years, many studies on reactive oxygen species (ROS), neuroinflammation, autophagy, and other fields have confirmed that hypoxia is ...
Mingyang Yuan, Yanjin Feng, Mingri Zhao, Ting Xu, Liuhong Li, Ke Guo, Deren Hou   +6 more
doaj   +2 more sources

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system [PDF]

American Journal of Medical Genetics Part A, 2012
AbstractJuvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21.
Rafael, Denadai, Cassio E, Raposo-Amaral, Débora, Bertola, Chong, Kim, Nivaldo, Alonso, Thomas, Hart, Sangwoo, Han, Rafael F, Stelini, Celso L, Buzzo, Cesar A, Raposo-Amaral, P Suzanne, Hart   +10 more
core   +4 more sources

Network‐based Plasma Proteomics Reveals Molecular Overlap Between Physical Activity and Dementia Risk [PDF]

Alzheimers Dement
Abstract Background Physical activity (PA) is associated with lower dementia risk; however, underlying molecular pathways are poorly understood. We leveraged large‐scale plasma proteomics to identify biological signatures of objectively‐monitored PA in cognitively unimpaired (CU) older adults and cross‐validated signatures in independent exercise ...
Saloner R, Paolillo E, Cadwallader C, VandeBunte A, Chen C, Wyss‐Coray T, Kramer J, Casaletto K.   +7 more
europepmc   +2 more sources

Large-scale serum protein biomarkers discovery associated with function and clinical milestones in Duchenne muscular dystrophy [PDF]

Nature Communications
Duchenne muscular dystrophy (DMD) is characterized by progressive muscle wasting and weakness. Serum proteins may offer insight into disease processes and clinical decline.
N. A. Ikelaar, A. M. Barnard, S.W.M. Eng, Shahrzad Hosseini Vajargah, K.C.H. Ha, H. E. Kan, K. Vandenborne, E. H. Niks, G. A. Walter, P. Spitali   +9 more
doaj   +2 more sources

Discovery and validation of molecular patterns and immune characteristics in the peripheral blood of ischemic stroke patients [PDF]

PeerJ
Background Stroke is a disease with high morbidity, disability, and mortality. Immune factors play a crucial role in the occurrence of ischemic stroke (IS), but their exact mechanism is not clear.
Lin Cong, Yijie He, Yun Wu, Ze Li, Siwen Ding, Weiwei Liang, Xingjun Xiao, Huixue Zhang, Lihua Wang   +8 more
doaj   +3 more sources