Results 61 to 70 of about 4,149 (184)

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

The role of the PTHrP/Ihh feedback loop in the unusual growth plate location in mammalian metatarsals and pisiforms

Developmental Dynamics, Volume 254, Issue 12, Page 1307-1324, December 2025.
Abstract Background Longitudinal skeletal growth takes place in the cartilaginous growth plates. While growth plates are found at either end of conventional long bones, they occur at a variety of locations in the mammalian skeleton. For example, the metacarpals and metatarsals (MT) in the hands and feet form only a single growth plate at one end, and ...
Philip L. Reno, Sherrie Wallace, Sarah N. Doelp, Maria Biancaniello, Kelsey M. Kjosness   +4 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +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

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

A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes [PDF]

Proceedings of the National Academy of Sciences, 2010
We report a mouse model of multiple osteochondromas (MO), an autosomal dominant disease in humans, also known as multiple hereditary exostoses (MHE or HME) and characterized by the formation of cartilage-capped osseous growths projecting from the metaphyses of endochondral bones.
Jones, Kevin B., Piombo, Virginia, Searby, Charles, Kurriger, Gail, Yang, Baoli, Grabellus, Florian, Roughley, Peter J., Morcuende, Jose A., Buckwalter, Joseph A., Capecchi, Mario R., Vortkamp, Andrea, Sheffield, Val C.   +11 more
openaire   +3 more sources

When Do Green Absorptive Capacity and Ambidextrous Open Innovation Foster Sustainable Performance

Business Strategy and the Environment, Volume 34, Issue 7, Page 9223-9241, November 2025.
ABSTRACT This study aims to assess the relationships between two green absorptive capacities and interorganizational learning measured in terms of ambidextrous open innovation, analyzing firms' sustainable performance within knowledge‐based theoretical frameworks.
Junggeun Kim, Murad Ali, Taewoo Roh
wiley   +1 more source

Abnormal sodium and water homeostasis in mice with defective heparan sulfate polymerization.

PLoS ONE, 2019
Glycosaminoglycans in the skin interstitium and endothelial surface layer have been shown to be involved in local sodium accumulation without commensurate water retention. Dysfunction of heparan sulfate glycosaminoglycans may therefore disrupt sodium and
Rik H G Olde Engberink, Judith de Vos, Angela van Weert, Yahua Zhang, Naomi van Vlies, Bert-Jan H van den Born, Jens M Titze, Ed van Bavel, Liffert Vogt   +8 more
doaj   +1 more source