Results 181 to 190 of about 1,412,344 (374)

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

Emergence of Staphylococcus aureus Resistance to Antimicrobial Peptides Nisin, NZ2114 and Bacitracin Involves Multiple Phenotypic Changes

Animal Research and One Health, EarlyView.
The AMP‐induced mutant Staphylococcus aureus strain nzR showed increased resistance, five gene mutations, and decreased surface anion levels. AMPs affect the NDH‐2 protein encoded by ndh gene inhibiting the growth of S. aureus. The deletion of the ndh gene promotes the development of AMPs resistance.
Lingyu Xiao, Xingyuan Ma, Ping Tian, Lianbin Li, Zafir Muhammad, Xiaokun Wang, Xuemei Xue, Jinhe Xiao, Liangjun Zheng, F. A. El‐Gohary, Xin Zhao, Junning Pu, Huping Xue   +12 more
wiley   +1 more source

Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema. [PDF]

, 1991
D Frangi, Marco Cicardi, Antonio Sica, Francesco Colotta, A Agostoni, Alvin E. Davis   +5 more
openalex   +1 more source

Targeting Ubiquitin‐Specific Protease 7 with Novel 5‐Amino‐Pyrazole Inhibitors: Design, Synthesis, and Biological Evaluation

ChemMedChem, EarlyView.
Ubiquitin‐specific protease 7 (USP‐7) is a novel target for anticancer therapy. To further extend the structure–activity relationships of the previously USP‐7 inhibitor STIRUR‐41, a library of 5‐aminopyrazoles is reported. 1d shows a potency comparable to lead compound STIRUR‐41 and promising in silico and in vitro pharmacokinetic properties ...
Matteo Lusardi, Elva Morretta, Andrea Spallarossa, Maria Chiara Monti, Camillo Rosano, Erika Iervasi, Marco Ponassi, Matteo Mori, Fiorella Meneghetti, Chiara Brullo   +9 more
wiley   +1 more source

Nonsense mutations inhibit splicing of MVM RNA in cis when they interrupt the reading frame of either exon of the final spliced product. [PDF]

, 1992
Lisa K. Naeger, Robert V. Schoborg, Qi Zhao, Gregory E. Tullis, David J. Pintel   +4 more
openalex   +1 more source

Therapy for Cystic Fibrosis Caused by Nonsense Mutations

, 2015
Nonsense mutations cover about 10% of cystic fibrosis (CF) patients and generate premature termination codons (PTCs) leading to premature translational termination and causing the synthesis of truncated non-functional or partially functional CFTR (cystic fibrosis transmembrane conductance regulator) protein. The read-through approach is the suppression
GAMBARI, Roberto, BREVEGLIERI, Giulia, SALVATORI, Francesca, FINOTTI, Alessia, BORGATTI, Monica   +4 more
openaire   +4 more sources

EVIDENCE FOR NONSENSE MUTATIONS IN THE AROM GENE CLUSTER OF NEUROSPORA CRASSA

, 1968
Mary E. Case, Norman H. Giles
openalex   +2 more sources

Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. [PDF]

, 1991
Serge Amselem, Marie‐Laure Sobrier, Philippe Duquesnoy, R Rappaport, M C Postel-Vinay, M Gourmelen, Bruno Dallapiccola, Michel Goossens   +7 more
openalex   +1 more source

Lower left ventricular ejection time in MYBPC3 variant carriers with overt or subclinical hypertrophic cardiomyopathy

ESC Heart Failure, EarlyView.
Abstract Aims Hypertrophic cardiomyopathy (HCM) is an inherited cardiomyopathy often caused by pathogenic variants in MYBPC3 and MYH7, encoding myosin‐binding protein C3 and myosin heavy chain 7, respectively. These variants can cause increased actin–myosin crossbridge cycling, resulting in ventricular hypercontractility, but mice lacking Mybpc3 ...
Isabell Yan, Zoe Möhring, Daniel Reichart, Fanny Kortüm, Julia Münch, Rixa Woitschach, Paulus Kirchhof, Lucie Carrier, Carolyn Y. Ho, Thomas Eschenhagen, Monica Patten   +10 more
wiley   +1 more source

Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese [PDF]

, 1994
Takahiko Horiuchi, Nobuaki Hatta, Mitsuru Matsumoto, Hisashi Ohtsuka, FrancisS. Collins, Yuzuru Kobayashi, Shigeru Fujita   +6 more
openalex   +1 more source