Results 61 to 70 of about 3,145 (159)

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

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

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG [PDF]

Scientific Reports, 2014
Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition.
Delgado, M. A., Martinez-Domenech, G., Sarrión Pérez-Caballero, Patricia, Urreizti, Roser, Zecchini, L., Robledo, H. H., Segura, F., Dodelson de Kremer, Raquel, Balcells Comas, Susana, Grinberg Vaisman, Daniel Raúl, Asteggiano, Carla   +10 more
openaire   +6 more sources

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

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

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas [PDF]

Scientific Reports, 2013
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of ...
P. Sarrión, A.Sangorrin, R. Urreizti, A. Delgado, R. Artuch, L. Martorell, J. Armstrong, J, Anton, F.Torner, M.A. Villaseca, J.Nevado, P.Lapunzina, C.G. Asteggiano, S. Balcells, D. Grinberg   +14 more
openaire   +9 more sources

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  

Genomic and clinical correlates of 5 deep learning‐based neuroimaging signatures of neurodegeneration, evaluated in ADSP [PDF]

Alzheimers Dement
Abstract Background Deep learning methods help to disentangle heterogeneity of brain aging and find distinct neuroimaging patterns of neurodegeneration. However, the relationship between aging‐related brain atrophy patterns and genetics is complex and requires further exploration.
Cui Y, Srinivasan D, Yang Z, Wen J, Erus G, Hohman T, Saykin A, Thompson P, Shen L, Davatzikos C.   +9 more
europepmc   +2 more sources

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

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