Results 251 to 260 of about 83,578 (286)

A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease. [PDF]

J Pediatr Genet, 2019
Bitsori M, Vergadi E, Galanakis E.
europepmc   +1 more source

Research advancements and evaluation of multifactor‐induced murine models for gastric cancer

Animal Models and Experimental Medicine, EarlyView.
Murine models for gastric cancer. Abstract As one of the most prevalent gastrointestinal malignancies in humans, gastric cancer (GC) is often detected at an advanced stage, resulting in a poor prognosis and ranking it the fifth leading cause of cancer‐related deaths.
Yiqing Wang, Liang Zhang, Weixu Feng, Wanfeng Liu, Xiangyang Xue, Shiyu Feng   +5 more
wiley   +1 more source

A Genetically Encoded Homocysteine Precursor to Probe Protein Active Sites and to Addict Escherichia coli to a Noncanonical Amino Acid Directly Involved in Catalysis

Angewandte Chemie, EarlyView.
A new genetically encoded amino acid is chemically converted into homocysteine (Hcy) under mild conditions to probe and to activate protein active sites. Surprisingly, Hcy can replace cysteine or serine residues in several enzymes. Its potential for a widespread use in proteins is further underlined by rendering Escherichia coli dependent on Hcy ...
Clara Dunker, Henning D. Mootz
wiley   +2 more sources

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

A Novel Splice Site Mutation in IFNGR2 in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases. [PDF]

Front Immunol, 2019
Bandari AK, Muthusamy B, Bhat S, Govindaraj P, Rajagopalan P, Dalvi A, Shankar S, Raja R, Reddy KS, Madkaikar M, Pandey A.   +10 more
europepmc   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Deep Brain Stimulation for VPS16‐Related Dystonia: A Multicenter Study

Annals of Neurology, EarlyView.
Objective The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16‐related dystonia. Methods This observational study collected preoperative and postoperative demographic, clinical, stimulation, genetic, neuroimaging, and neurophysiological data of medically refractory DYT‐VPS16 ...
Tatiana Svorenova, Luigi M. Romito, Ahmet Kaymak, Eoin Mulroy, Laura Cif, Elena Moro, Kirsten E. Zeuner, Simone Zittel, Jan Niklas Petry‐Schmelzer, Doreen Gruber, Liesanne Centen, Alberto Albanese, Miriama Ostrozovicova, Vladimir Han, Veronika Magocova, Kamil Knorovsky, Aurelia Kollova, Barbara Garavaglia, Nico Golfrè‐Andreasi, Chiara Reale, Alberto Mazzoni, Giovanna Zorzi, Roberto Eleopra, Vincenzo Levi, Thomas Foltynie, Patricia Limousin, Harith Akram, Ludvic Zrinzo, Francesca Magrinelli, David Murphy, Henry Houlden, Manju A. Kurian, Claudio Baiata, Steffen Paschen, Katja Lohmann, Jens Volkmann, Wolfgang Hamel, Michael T. Barbe, Martje E. van Egmond, MAJ Tijssen, Lubos Ambro, Veronika Jurkova, Robert Jech, Petra Havrankova, Juliane Winkelmann, Michael Zech, Matej Skorvanek   +46 more
wiley   +1 more source

Alu Overexpression Leads to an Increased Double‐stranded RNA Signature in Dermatomyositis

Arthritis &Rheumatology, Accepted Article.
Objective Dermatomyositis is an autoimmune condition characterized by a high interferon signature of unknown etiology. Because coding sequences constitute <1.2% of our genomes, there is a need to explore the role of the non‐coding genome in disease pathogenesis.
Rayan Najjar, Andrew Mammen, Tomas Mustelin   +2 more
wiley   +1 more source

Extranodal diffuse large B‐cell lymphoma: Clinical and molecular insights with survival outcomes from the multicenter EXPECT study

Cancer Communications, EarlyView.
Abstract Background Diffuse large B‐cell lymphoma (DLBCL) is the most common subtype of aggressive non‐Hodgkin's lymphoma with distinct clinical and molecular heterogeneity. DLBCL that arises in extranodal organs is particularly linked to poor prognosis. This study aimed to determine the clinical and molecular characteristics of extranodal involvement (
Si‐Yuan Chen, Peng‐Peng Xu, Ru Feng, Guo‐Hui Cui, Li Wang, Shu Cheng, Rong‐Ji Mu, Hui‐Lai Zhang, Xiao‐Lei Wei, Yong‐Ping Song, Kai‐Yang Ding, Li‐Hua Dong, Zun‐Min Zhu, Shen‐Miao Yang, Xin Wang, Ting‐Bo Liu, Jian‐Da Hu, Xiao‐Yun Zheng, Ou Bai, Jing‐Yan Xu, Liang Huang, Wei Sang, Ke‐Qian Shi, Fan Zhou, Fei Li, Ai‐Bin Liang, Hui Zhou, Si‐Guo Hao, Hong‐Hui Huang, Bin Xu, Wen‐Bin Qian, Cai‐Xia Li, Zhi‐Ming Li, Chong‐Yang Wu, Xiao‐Bo Wang, Wen‐Yu Shi, Shu‐Ye Wang, Yu‐Yang Tian, Xi Zhang, Ke‐Shu Zhou, Li‐Juan Cui, Hui Liu, Huo Tan, Qing Leng, Dong‐Lu Zhao, Ting Niu, Wei‐Li Zhao   +46 more
wiley   +1 more source

Targeting MAN1B1 potently enhances bladder cancer antitumor immunity via deglycosylation of CD47

Cancer Communications, EarlyView.
Abstract Background Only a few bladder cancer patients benefit from anti‐programmed cell death protein 1/programmed cell death ligand 1 immunotherapy. The cluster of differentiation 47 (CD47) plays an important role in tumor immune evasion. CD47 is a highly glycosylated protein, however, the mechanisms governing CD47 glycosylation and its potential ...
Jie Zhang, Chen Zhang, Ruichen Zang, Weiwu Chen, Yining Guo, Haofei Jiang, Jing Le, Kunyu Wang, Haobo Fan, Xudong Wang, Sisi Mo, Peng Gao, Wenhao Guo, Xinrong Jiang, Fengbin Gao, Junming Jiang, Juyan Zheng, Yuxing Chen, Yicheng Chen, Yanlan Yu, Guoqing Ding   +20 more
wiley   +1 more source