Results 41 to 50 of about 2,890 (187)

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies. [PDF]

Eur J Neurol
This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
Payá M, Portela S, Sivera R, Frasquet M, Más-Estellés F, Martí P, Azorín I, Aragon-Gawinska K, Tárrega M, Argente-Escrig H, Vázquez-Costa JF, Vilchez R, Vilchez JJ, Sevilla T, Muelas N.   +14 more
europepmc   +2 more sources

GNE – related severe congenital macrothrombocytopenia: A case report and literature review

Journal of Applied Hematology, 2022
Congenital thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance.
Muhammad Matloob Alam, Abdulrhman Alathaibi, Muhammad Kashif, Mohammed Zakaria, Ruwayd Adel Attar, Hamdan Saeed Al-Ghamdi, Abdullah Obaid Al Harbi   +6 more
doaj   +1 more source

141. GNE Vector Development and Testing for Gene Replacement Treatment of Hereditary Inclusion Body Myopathy [PDF]

Molecular Therapy, 2007

openalex   +2 more sources

4472 Plasma Neurofilament Light as a Biomarker for Pediatric Patients with Huntington’s Disease

Journal of Clinical and Translational Science, 2020
OBJECTIVES/GOALS: The goal of this study is to compare plasma neurofilament light (NfL) concentrations in asymptomatic children and young adults that carry the gene expansion (GE group) that causes Huntington’s Disease to similar subjects that do not ...
Jordan L Schultz
doaj   +1 more source

Mesenchymal Stem Cell-Derived Extracellular Vesicles Modulate the Course of Peritoneal Inflammation Through Metabolic and Epigenetic Regulation. [PDF]

Adv Sci (Weinh)
MSC‐EVs alleviate peritoneal inflammation and fibrogenesis by disrupting the H3K18la‐CCL2 axis and crosstalk between mesothelial cells and Ly6c2⁺ macrophages. Model cartoons are constructed using the Biorender website (https://www.biorender.com/), and a usage license is obtained. Abstract Peritoneal dialysis (PD), as a renal replacement therapy, relies
Huang Q, Sun Y, Kuang P, Sun J, Guo D, Peng L, Zhou H, Song Q, Huo Z, Li C, Witowski J, Hu Z, Peng H.   +12 more
europepmc   +2 more sources

Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients

Нервно-мышечные болезни, 2019
Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different mutations were revealed in the GNE gene, 8 of which were described earlier, and 3 – Сys203Ser ...
E. L. Dadali, I. V. Sharkova, G. E. Rudenskaya, S. S. Nikitin, A. F. Murtazina, O. P. Ryzhkova, A. L. Chukhrova   +6 more
doaj   +1 more source

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

npj Regenerative Medicine, 2022
Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy (GNEM) is an autosomal recessive distal myopathy with rimmed vacuoles typically manifesting in ...
Rebecca E. Schmitt, Douglas Y. Smith, Dong Seong Cho, Lindsey A. Kirkeby, Zachary T. Resch, Teerin Liewluck, Zhiyv Niu, Margherita Milone, Jason D. Doles   +8 more
doaj   +1 more source

Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort

Open Medicine, 2021
GNE gene-specific c.2179G>A(p.V727M) is a key alteration reported in patients with hereditary inclusion body myopathy (HIBM) and represents an ethnic founder mutation in the Indian cohort.
Attri Shivangi, Sharma Vikas, Kumar Amit, Verma Chaitenya, Gahlawat Suresh Kumar   +4 more
doaj   +1 more source

Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE)

Biomolecules, 2023
Mutations in the gene coding for the bi-functional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of the sialic acid biosynthesis, are responsible for autosomal-recessive GNE myopathy (GNEM).
Vanessa Hagenhaus, Jacob L. Gorenflos López, Rebecca Rosenstengel, Carolin Neu, Christian P. R. Hackenberger, Arif Celik, Klara Weinert, Mai-Binh Nguyen, Kaya Bork, Rüdiger Horstkorte, Astrid Gesper   +10 more
doaj   +1 more source

Super-enhancer profiling identifies novel critical and targetable cancer survival gene LYL1 in pediatric acute myeloid leukemia

Journal of Experimental & Clinical Cancer Research, 2022
Background Acute myeloid leukemia (AML) is a myeloid neoplasm makes up 7.6% of hematopoietic malignancies. Super-enhancers (SEs) represent a special group of enhancers, which have been reported in multiple cell types.
Fang Fang, Jun Lu, Xu Sang, Yan-Fang Tao, Jian-Wei Wang, Zi-Mu Zhang, Yong-Ping Zhang, Xiao-Lu Li, Yi Xie, Shui-Yan Wu, Xin-Ran Chu, Gen Li, Di Wu, Yan-Ling Chen, Juan-Juan Yu, Si-qi Jia, Chen-xi Feng, Yuan-Yuan Tian, Zhi-Heng Li, Jing Ling, Shao-Yan Hu, Jian Pan   +21 more
doaj   +1 more source