Results 51 to 60 of about 3,145 (159)

Ext1-Dependent Heparan Sulfate Regulates the Range of Ihh Signaling during Endochondral Ossification [PDF]

Developmental Cell, 2004
Exostosin1 (Ext1) belongs to a family of glycosyltransferases necessary for the synthesis of the heparan sulfate (HS) chains of proteoglycans, which regulate signaling of several growth factors. Loss of tout velu (ttv), the homolog of Ext1 in Drosophila, inhibits Hedgehog movement.
Didt-Koziel, L., Kunath, M., McMahon, A.P., Kelly, O.g., Vortkamp, Andrea   +4 more
openaire   +3 more sources

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients

BMC Medical Genetics, 2017
Background Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations.
Yuchan Li, Jian Wang, Zhigang Wang, Jingyan Tang, Tingting Yu   +4 more
doaj   +1 more source

Integrative cross‐tissue and spatially resolved single‐cell profiling uncovers tumour‐educated inflammatory remodelling of tissue‐resident macrophage ecosystem with immunotherapeutic prognostic significance in pan‐cancer

Clinical and Translational Medicine, Volume 16, Issue 2, February 2026.
Pan‐cancer analysis reveals an inflammatory phenotype remodeling of tissue‐resident macrophages (iTRM) in the tumor microenvironment, which is associated with immunosuppression. Tissue‐resident macrophages and monocyte‐derived macrophages exhibit convergent differentiation toward a similar inflammatory phenotype. iTRM‐enriched ecosystems are associated
Weikai Wang, Zibin Chen, Yuhan Huang, Zhihao Hu, Peixin Zhu, Zhuoli Huang, Jingzhi Lv, Ziru Liao, Yuhui Zheng, Chen Wei, Baibing Guan, Yin Zeng, Xinyue Zhu, Yafei Yang, Guibo Li, Xin Jin, Xi Chen, Xiao Yang, Zikun Ma, Jianhua Yin   +19 more
wiley   +1 more source

Disruption of Gastrulation and Heparan Sulfate Biosynthesis in EXT1-Deficient Mice

Developmental Biology, 2000
Mutations in the EXT1 gene are responsible for human hereditary multiple exostosis type 1. The Drosophila EXT1 homologue, tout-velu, regulates Hedgehog diffusion and signaling, which play an important role in tissue patterning during both invertebrate and vertebrate development.
Lin, Xin, Wei, Ge, Shi, Zhengzheng, Dryer, Laurence, Esko, Jeffrey D., Wells, Dan E., Matzuk, Martin M.   +6 more
openaire   +2 more sources

Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates

International Dental Journal
Summary: Objectives: The exostosins (EXT), which are responsible for heparan sulfate backbone synthesis and play a vital role in tissue homeostasis, have been reported to be correlated with prognosis of various cancers.
Yiping Wang, Yan Huang, Houwei Zhu, Zhenzhen Guo, Jun Cheng, Churen Zhang, Ming Zhong   +6 more
doaj   +1 more source

Histopathological features of condylar hyperplasia and condylar Osteochondroma: a comparison study

Orphanet Journal of Rare Diseases, 2019
Background Both mandibular condylar hyperplasia and condylar osteochondroma can lead to maxillofacial skeletal asymmetry and malocclusion, although they exhibit different biological behavior.
Jingshuang Yu, Tong Yang, Jiewen Dai, Xudong Wang   +3 more
doaj   +1 more source

A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.

PLoS ONE, 2014
BackgroundHereditary multiple exostoses (HME) is an autosomal dominant disease. The classical paradigm of mutation screening seeks to relate alterations in the exostosin glycosyltransferase genes, EXT1 and EXT2, which are responsible for over 70% of HME ...
Chen Tian, Rengna Yan, Shuzhen Wen, Xueling Li, Tianfeng Li, Zhenming Cai, Xinxiu Li, Hong Du, Huimei Chen   +8 more
doaj   +1 more source

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

BMC Medical Genetics, 2010
Background Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1 ...
Horn Denise, Kolanczyk Mateusz, Jamsheer Aleksander, Baasanjav Sevjidmaa, Latos Tomasz, Hoffmann Katrin, Latos-Bielenska Anna, Mundlos Stefan   +7 more
doaj   +1 more source

Identifying early changes in imaging, plasma, and digital cognitive biomarkers that correspond to Alzheimer's disease pathology in the presence of autopsy‐confirmed co‐pathologies

Alzheimer's &Dementia, Volume 22, Issue 1, January 2026.
Abstract INTRODUCTION Alzheimer's disease (AD) biomarkers are assessed on their ability to detect AD pathophysiology in vivo, with confirmation of AD neuropathology only at autopsy. METHODS Positron emission tomography (PET), plasma, and cognitive AD biomarkers were compared to AD neuropathology in Harvard Aging Brain Study participants (10 cognitively
Charles D. Chen, Cinthya Aguero, Alexandra Melloni, Brian C. Healy, Emma G. Thibault, Jessie Fanglu Fu, Michelle E. Farrell, Stephanie Schultz, Hyun‐Sik Yang, Jean‐Pierre Bellier, Jasmeer Chhatwal, Pia Kivisäkk Webb, Steven Arnold, Dana Penney, Randall Davis, Dorene Rentz, Teresa Gomez‐Isla, Reisa A. Sperling, Keith A. Johnson, Julie C. Price   +19 more
wiley   +1 more source

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses

Oncology Reports, 2013
Hereditary multiple exostoses (HME) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors. EXT1 located on chromosome 8q23-q24 and EXT2 located on 11p11-p12 are the main disease-causing genes which are responsible for ~90% of HME cases.
Li, Cao, Fei, Liu, Mingxiang, Kong, Yong, Fang, Haifeng, Gu, Yu, Chen, Chen, Zhao, Shuijun, Zhang, Qing, Bi   +8 more
openaire   +3 more sources