Results 161 to 170 of about 130,050 (381)

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi   +7 more
wiley   +1 more source

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi   +7 more
wiley   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé   +5 more
wiley   +1 more source

The Effect of Melatonin on Behavioral, Molecular, and Histopathological Changes in Cuprizone Model of Demyelination [PDF]

open access: yes, 2016
Multiple sclerosis (MS) is an autoimmune, demyelinating disease of the central nervous system. The protective effects of melatonin (MLT) on various neurodegenerative diseases, including MS, have been suggested.
Ghadiri, T.   +6 more
core  

Early functional and structural hippocampal impairment in a bilateral common carotid artery stenosis mouse model

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Our study used behavioral tests, laser speckle flowmetry, long‐term potentiation, histochemical staining, molecular experiments, and voxel‐based morphometry to evaluate the hippocampal impairments. It demonstrates early functional and structural impairments in the hippocampus contributing to learning and memory deficits after 1 month of BCAS ...
Ping Tang   +3 more
wiley   +1 more source

Reliability of radiomics features as imaging biomarkers for evaluating brain aging: A study based on myelin protein and diffusion tensor imaging

open access: yesNeuroImage
Radiomics has made considerable progress in neurodegenerative diseases. However, previous studies only explored the feasibility of radiomics in clinical applications.
Yuting Yan   +7 more
doaj  

Rapid severe hypertension and organ damage in two‐kidney two‐clip rats produced by different sizes of clips

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Blood pressure increases immediately when the 2K2C rats (made with 0.3, 0.25, and 0.2 mm U‐shaped clips) regain consciousness from anesthesia. 100% of the rats develop hypertension on the day of 2K2C surgery. Blood pressure continues to rise, resulting in severe hypertension and organ damage to the brain, heart, aorta, and kidneys at 1, 2, 4, and 6 ...
Jia‐Sheng Tian   +4 more
wiley   +1 more source

Home - About - Disclaimer - Privacy