Results 91 to 100 of about 96,245 (184)

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

American 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, Carmela Fusco, Rosamaria Mura, Carla Cerruto, Leonardo D'Agruma, Salvatore Carnazzo, Marco Castori, Salvatore Savasta   +7 more
wiley   +1 more source

A companion to the preclinical common data elements for genomics, transcriptomics, and epigenomics data in rodent epilepsy models. A report of the TASK3‐WG4 omics working group of the ILAE/AES joint translational TASK force

Epilepsia Open, EarlyView., 2022
Abstract The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force established the TASK3 working groups to create common data elements (CDEs) for various preclinical epilepsy research disciplines. The aim of the CDEs is to improve the standardization of experimental designs across a range of epilepsy ...
Erwin A. van Vliet, Michael S. Hildebrand, James D. Mills, Gary P. Brennan, Tore Eid, Susan A. Masino, Vicky Whittemore, Laura Bindila, Kevin K. Wang, Manisha Patel, Piero Perucca, Christopher A. Reid   +11 more
wiley   +1 more source

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

American 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, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

A companion to the preclinical common data elements and case report forms for in vivo rodent neuroimaging: A report of the TASK3‐WG3 Neuroimaging Working Group of the ILAE/AES Joint Translational Task Force

Epilepsia Open, EarlyView., 2022
Abstract The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force established the TASK3 working groups to create common data elements (CDEs) for various aspects of preclinical epilepsy research studies, which could help improve the standardization of experimental designs.
Erwin A. van Vliet, Riikka Immonen, Ofer Prager, Alon Friedman, Jens P. Bankstahl, David K. Wright, Terence J. O'Brien, Heidrun Potschka, Olli Gröhn, Neil G. Harris   +9 more
wiley   +1 more source

Predator–Prey Behavior of Droplets Propelling Through Self‐Generated Channels in Crystalline Surfactant Layers

Angewandte Chemie, EarlyView.
A crystalline layer is formed by an amphiphilic decylamine surfactant at the air/water interface. Aldehyde‐containing ester oil droplets self‐propel by consuming amines from the crystalline layer, thereby generating open channels along which myelin‐forming amphiphile droplets chase and ultimately catch the aldehyde droplets in a predator–prey analogy ...
Priyanshu Singh, Peter A. Korevaar
wiley   +2 more sources

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

American 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, Lucía García‐DeLaFuente, Alejandro García‐Álvarez, Ginesa García‐Rostán, Jaume Capdevila, Jorge Hernando   +5 more
wiley   +1 more source

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

Animal 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, Yi Sun, Chunsheng Yang, Nan Zhang   +3 more
wiley   +1 more source

Biocompatibility and healing patterns in experimentally induced canine tibial fractures using Pedicle screw‐Rod external fixation

Animal Models and Experimental Medicine, EarlyView.
This study demonstrates that using a Pedicle screw‐Rod configuration for the external fixation of non‐articular tibial osteotomy aligns well with the principles of biological osteosynthesis, resulting in secondary bone healing characterized by callus formation and neovascularization.
Mohammad Mahdi Gooran, Ramin Mazaheri‐Khameneh, Seyed Mohammad Hashemi‐Asl, Rahim Hobbenaghi   +3 more
wiley   +1 more source

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

Animal 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, Qi‐Sheng Ling, Yu‐Chen Wei, Dao‐Xin Wang, Chao‐Yu Miao   +4 more
wiley   +1 more source

Longitudinal Metabolomics in Amyotrophic Lateral Sclerosis Implicates Impaired Lipid Metabolism

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by altered metabolome and energy homeostasis, manifesting with body mass index changes and hypermetabolism—both prognostic of disease progression and survival.
Kai Guo, Masha G. Savelieff, Dae‐Gyu Jang, Samuel J. Teener, Lili Zhao, Junguk Hur, Stephen A. Goutman, Eva L. Feldman   +7 more
wiley   +1 more source