Results 81 to 90 of about 16,338 (222)

Familial Nephropathy and Multiple Exostoses With Exostosin-1 (EXT1) Gene Mutation [PDF]

Journal of the American Society of Nephrology, 2008
Glomerular deposition of fibrillar collagen is a characteristic finding of genetically distinct conditions, including nail-patella syndrome and collagen type III glomerulopathy. A case of familial nephropathy in which steroid-sensitive nephrotic syndrome and glomerular deposits of fibrillar collagen are associated with multiple exostoses due to ...
Ian S D, Roberts, Jonathan M, Gleadle
openaire   +2 more sources

Epithelial heparan sulfate regulates Sonic Hedgehog signaling in lung development.

PLoS Genetics, 2017
The tree-like structure of the mammalian lung is generated from branching morphogenesis, a reiterative process that is precisely regulated by numerous factors.
Hua He, Meina Huang, Shenfei Sun, Yihui Wu, Xinhua Lin   +4 more
doaj   +1 more source

Exploration of dilated cardiomyopathy for biomarkers and immune microenvironment: evidence from RNA-seq

BMC Cardiovascular Disorders, 2022
Background The pathogenic mechanism of dilated cardiomyopathy (DCM) remains to be defined. This study aimed to identify hub genes and immune cells that could serve as potential therapeutic targets for DCM.
Chenggang Fang, Zhan Lv, Zhimin Yu, Kexin Wang, Chengkai Xu, Yixuan Li, Yanggan Wang   +6 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

Hereditary Multiple Exostoses: Current Insights

Orthopedic Research and Reviews, 2019
Antonio D’Arienzo, Lorenzo Andreani, Federico Sacchetti, Simone Colangeli, Rodolfo Capanna Department of Translational Research on New Surgical and Medical Technologies, University of Pisa, Pisa, ItalyCorrespondence: Federico SacchettiDepartment of
D'Arienzo A, Andreani L, Sacchetti F, Colangeli S, Capanna R   +4 more
doaj  

Cervical Myelopathy Due to an Osteochondroma in Multiple Hereditary Exostosis

Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.
Hereditary multiple exostosis is a rare genetic condition characterized by the development of multiple exostoses. Vertebral localization is rare, less than 7%. Spinal cord compression in hereditary multiple exostosis is a rare condition. We report the case of a 22‐year‐old man with cervical spinal cord compression due to an osteochondroma with ...
Géraud Garcia Segbedji, Cédric Dongmo Mayopa, Xavier Banse, Pierre-Louis Docquier, Shashank Kaushik   +4 more
wiley   +1 more source

Haplotype Construction Using Embryos as Probands of the Pathogenic Variations in EXT1, CUL3, and HBA

Human Mutation, Volume 2026, Issue 1, 2026.
Preimplantation genetic testing (PGT) represents a crucial strategy in the prevention of monogenic disorders, ensuring that only embryos free from these genetic conditions are implanted during assisted reproductive technologies. By analyzing the type of haplotypes of the variation of the probands or the carriers, we can significantly enhance the ...
Defeng Shu, Yi Liu, Xiaoli Wang, Tao Liang, Zubo Wu, Priya Gusain   +5 more
wiley   +1 more source

Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report

Egyptian Journal of Medical Human Genetics
Background Multiple cartilaginous exostoses (MCE) are a rare genetic disorder characterized by multiple osteochondromas in the metaphysis of long bones. Case Presentation.
Gozde Atasever Yildirim, Ozlem Anlas, Rabia Miray Kisla Ekinci   +2 more
doaj   +1 more source

Hsa_Circ_0008035 drives immune evasion of gastric cancer via promoting EXT1-mediated nuclear translocation of PKM2

Translational Oncology
Circular RNAs (circRNAs) have been reported to be associated with the malignant phenotypes of cancer. However, the role and underlying mechanism of hsa_Circ_0008035 in colorectal cancer (CRC) remains unclear. In this study, we elucidated the pivotal role
Rongqi Jiang, Ping Li, Enqing Meng, Xu Cheng, Xinyi Wu, Hao Wu   +5 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