Results 41 to 50 of about 4,046 (167)

Loss of GNE Predicts Lymph Node Metastasis in Early Gastric Cancer

Cells, 2022
Endoscopic surgery is increasingly utilized for the treatment of early gastric cancer (EGC) worldwide, whereas lymph node metastasis (LNM) remains a critical risk factor for the relapse of EGC after endoscopic surgery.
Xinying Guo, Jie Gu, Anwei Xue, Shushu Song, Bo Liu, Xiaodong Gao, Jianxin Gu, Lei Chang, Yuanyuan Ruan   +8 more
doaj   +1 more source

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

Frontiers in Neurology, 2018
GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist.
Tyler Soule, Cecile Phan, Chris White, Lothar Resch, Atilano Lacson, Kristina Martens, Gerald Pfeffer, Gerald Pfeffer   +7 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

Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy

Molecular Genetics and Metabolism
Defects in sialic acid metabolism disrupt the sialylation of glycoproteins and glycolipids, contributing to a spectrum of diseases, including GNE myopathy (GNEM). This rare disorder is caused by mutations in the GNE gene that encodes for a bifunctional enzyme required for sialic acid biosynthesis, resulting in progressive muscle atrophy and weakness ...
Pereira, Beatriz L., Barbosa, Mariana, Granjo, Pedro, Lochmüller, Hanns, Videira, Paula A.   +4 more
openaire   +2 more sources

Non‐specific accumulation of glycosphingolipids in GNE myopathy [PDF]

Journal of Inherited Metabolic Disease, 2013
AbstractBackgroundUDP‐GlcNAc 2‐epimerase/ManNAc 6‐kinase (GNE) is a bifunctional enzyme responsible for the first committed steps in the synthesis of sialic acid, a common terminal monosaccharide in both protein and lipid glycosylation. GNE mutations are responsible for a rare autosomal recessive neuromuscular disorder, GNE myopathy (also called ...
Patzel, Katherine A., Yardeni, Tal, Le Poëc-Celic, Erell, Leoyklang, Petcharat, Dorward, Heidi, Alonzi, Dominic S., Kukushkin, Nikolay V., Xu, Bixue, Zhang, Yongmin, Sollogoub, Matthieu, Blériot, Yves, Gahl, William A., Huizing, Marjan, Butters, Terry D.   +13 more
openaire   +3 more sources

Are All “Good” Employees Susceptible to Moral Biases? Exceptional (Versus Intermediate) Moral Character Shapes Resilience to Daily “DIAMONDS” Situations That Trigger Moral Disengagement

Journal of Organizational Behavior, EarlyView.
ABSTRACT The non‐rationalist view of morality holds that all employees—including “good” apples—are liable to do bad because they are susceptible to moral biases in everyday situational encounters. In contrast, the rationalist or trait view suggests that employees with strong moral character should be resilient against moral biases across situations and
Babatunde Ogunfowora, Varun Sharma, Mohammad Khalilinejad, Kimberly Weston Moore   +3 more
wiley   +1 more source

A Three‐Dimensional Culture–Drug Sensitivity Test Predicts MDM2 Inhibitor–Sensitivity in SMARCB1/INI1‐Deficient Tumors

Cancer Science, EarlyView.
This study aimed to determine whether personalized selection of effective drugs for SMARCB1/INI1‐deficient tumors is feasible using in vitro drug sensitivity profiling. Drug sensitivity was assessed using a short‐term collagen gel–embedded three‐dimensional drug sensitivity test (3D‐DST) in tumors derived from SMARCB1/INI1‐deficient tumor cell line ...
Hiroaki Goto, Chiyoko Nishime, Takashi Ohtsu, Mieko Ito, Maiko Sagisaka, Takuya Naruto, Norihiko Kitagawa, Mio Tanaka, Masakatsu Yanagimachi, Yukihiko Hiroshima, Junko Takita, Yasuhide Hayashi, Yohei Miyagi   +12 more
wiley   +1 more source

Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy [PDF]

Molecular Genetics & Genomic Medicine, 2017
AbstractBackgroundGNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine (ManNAc) kinase.
Jennifer Garland, Joshi Stephen, Bradley Class, Angela Gruber, Carla Ciccone, Aaron Poliak, Christina P. Hayes, Vandana Singhal, Christina Slota, John Perreault, Ralitza Gavrilova, Joseph A. Shrader, Prashant Chittiboina, Galen Joe, John Heiss, William A. Gahl, Marjan Huizing, Nuria Carrillo, May Christine V. Malicdan   +18 more
openaire   +2 more sources

Nicotinic Acid Restriction Enhances the Therapeutic Benefit of NAMPT Inhibition in Small‐Cell Lung Cancer Models

Cancer Science, EarlyView.
Dietary NA restriction converts the effect of NAMPT inhibition from cytostatic to cytotoxic in SCLC in vivo. ABSTRACT Small‐cell lung cancer (SCLC) is an aggressive malignancy with limited therapeutic options. We previously showed that nicotinic acid riboside (NAR) sustains NAD biosynthesis in vivo and compensates for NAMPT inhibition in SCLC models ...
Kyoji Tsurumi, Miyuki Nomura, Mai Ouchi, Shigehiro Yagishita, Naohiko Kikuchi, Taku Sato, Mami Morita, Yoji Yamashita, Kayoko Hayashi, Tomoyoshi Soga, Akinobu Hamada, Tatsuro Fukuhara, Nobuhiro Tanuma   +12 more
wiley   +1 more source

Product heterogeneity, price index bias, and their link to provincial urban size: Evidence from urban China's beverage market

Canadian Journal of Agricultural Economics/Revue canadienne d'agroeconomie, EarlyView.
Abstract Conventional price indexes partially address product heterogeneity. This paper considers the variety and quality of products in each market, the combination of region and year, and constructs panel price indexes using household scanner data on non‐alcoholic beverages in urban China.
Soye Shin
wiley   +1 more source