Results 51 to 60 of about 15,103 (215)

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

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]

, 2009
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel, Chinnery, Patrick F., Goldfarb, Lev, Lochmueller, Hanns, McNeill, Alisdair, Reilich, Peter, Schramm, Nicolai, Straub, Volker, Walter, Maggie C.   +8 more
core   +1 more source

Error, bias, and long-branch attraction in data for two chloroplast photosystem genes in seed plants [PDF]

, 2000
Sequences of two chloroplast photosystem genes, psaA and psbB, together comprising about 3,500 bp, were obtained for all five major groups of extant seed plants and several outgroups among other vascular plants.
Brady, Siobhan, Hu, J.M., Sanderson, Michael, Scharaschkin, Tanya, Wojciechowski, Martin   +4 more
core   +2 more sources

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

Influence of soil properties on archaeal diversity and distribution in the McMurdo Dry Valleys, Antarctica [PDF]

, 2014
Archaea are the least understood members of the microbial community in Antarctic mineral soils. Although their occurrence in Antarctic coastal soils has been previously documented, little is known about their distribution in soils across the McMurdo Dry ...
Barrett, John E., Cary, S. Craig, Herbold, Craig W., Lee, Charles Kai-Wu, McDonald, Ian R., Richter, Ingrid   +5 more
core   +2 more sources

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +1 more source

Behavioral features in child and adolescent huntingtin gene‐mutation carriers

Brain and Behavior, 2022
Introduction We compared neuropsychiatric symptoms between child and adolescent huntingtin gene‐mutation carriers and noncarriers. Given previous evidence of atypical striatal development in carriers, we also assessed the relationship between ...
Erin E. Reasoner, Ellen van derPlas, Hend M. Al‐Kaylani, Douglas R. Langbehn, Amy L. Conrad, Jordan L. Schultz, Eric A. Epping, Vincent A. Magnotta, Peggy C. Nopoulos   +8 more
doaj   +1 more source

Rift Valley fever virus structural and nonstructural proteins: recombinant protein expression and immunoreactivity against antisera from sheep [PDF]

, 2013
The Rift Valley fever virus (RVFV) encodes the structural proteins nucleoprotein (N), aminoterminal glycoprotein (Gn), carboxyterminal glycoprotein (Gc), and L protein, 78-kD, and the nonstructural proteins NSm and NSs.
Drolet, Barbara S., Faburay, Bonto, Ma, Wenjun, Madden, Daniel, McVey, D. Scott, Richt, Juergen A., Weingartl, Hana, Wilson, William C., Young, Alan   +8 more
core   +1 more source