Results 81 to 90 of about 4,149 (173)

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas

Frontiers in Genetics
Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the EXT1 or EXT2 genes,
Artem Borovikov, Andrey Marakhonov, Aysylu Murtazina, Kseniya Davydenko, Alexandra Filatova, Nailya Galeeva, Varvara Kadnikova, Natalya Ogorodova, Daria Gorodilova, Ilya Kanivets, Ilya Kanivets, Denis Pyankov, Konstantin Zherdev, Konstantin Zherdev, Aleksandr Petel’guzov, Pavel Zubkov, Alexander Polyakov, Olga Shchagina, Mikhail Skoblov   +18 more
doaj   +1 more source

EXT2 Gene [PDF]

, 2020
openaire   +1 more source

EXT2 wt Allele [PDF]

, 2020
openaire   +1 more source

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas

Therapeutics and Clinical Risk Management, 2016
Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center ...
Akbaroghli S, Balali M, Kamalidehghan B, Saber S, Aryani O, Yong Meng G, Houshmand M   +6 more
doaj  

Tracing ext3 file system operations in the QEMU emulator

Труды Института системного программирования РАН, 2018
The paper proposes an approach to monitoring file operations through capturing virtual disk accesses in the emulator. This method allows obtaining information about file operations in the OS-agnostic manner but requires a separate implementation for each
V. M. Stepanov, P. M. Dovgalyuk, D. N. Poletaev   +2 more
doaj  

csRNA and heparan sulfate : cell surface ribonucleoproteins regulate HS-mediated signaling. [PDF]

Signal Transduct Target Ther
Li J, Ling J.
europepmc   +1 more source

EXT1 and EXT2 regulate chondrogenesis by modulation of WNT signaling [PDF]

Osteoarthritis and Cartilage, 2018
X. Wang, S. Monteagudo, R. Lories
openaire   +1 more source

Orthopedic preoperative evaluation and surgical strategies of hereditary multiple osteochondromas involving the spinal region. [PDF]

EFORT Open Rev
Liu S, Xing J, Song A, Zhou X, Liu Y.
europepmc   +1 more source

Neuropsychiatric Phenotype in a Patient with Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy (NEDEGE). [PDF]

Genes (Basel)
Szczęśniak D, Wilczek A, Mroczek M.
europepmc   +1 more source

Multi-Omics and Single-Cell Dissection of Exostosin Glycosyltransferases (EXT1/EXT2) Reveals Divergent Oncogenic Roles and Therapeutic Vulnerabilities in Gliomas. [PDF]

J Cancer
Chiang YC, Wang CY, Palekkode N, Yang SF, Chang KF, Ko CC, Chang CH, Lin HR, Wu CJ, Ho YC, Lin CC, Yuan CH, Kumar S, Solomon DD, Ngadio JL, Wulandari FS, Xuan DTM, Hsieh CB, Yen MC, Yeh IJ, Ko PC, Shih CL, Chan HB, Lee YK, Nguyen NUN.   +24 more
europepmc   +1 more source