Results 71 to 80 of about 20,553 (236)

Suppressing ‘nonsense’ in cystic fibrosis [PDF]

The Journal of Physiology, 2020
Alexandre Hinzpeter, Isabelle Sermet‐Gaudelus, David N. Sheppard   +2 more
openaire   +2 more sources

Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I

Disease Models & Mechanisms, 2016
Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by the occurrence of nerve sheath tumors and considerable clinical heterogeneity.
Kairong Li, Ashley N. Turner, Min Chen, Stephanie N. Brosius, Trenton R. Schoeb, Ludwine M. Messiaen, David M. Bedwell, Kurt R. Zinn, Corina Anastasaki, David H. Gutmann, Bruce R. Korf, Robert A. Kesterson   +11 more
doaj   +1 more source

AI‐Driven Cancer Multi‐Omics: A Review From the Data Pipeline Perspective

Advanced Intelligent Discovery, EarlyView.
The exponential growth of cancer multi‐omics data brings opportunities and challenges for precision oncology. This review systematically examines AI's role in addressing these challenges, covering generative models, integration architectures, Explainable AI for clinical trust, clinical applications, and key directions for clinical translation.
Shilong Liu, Shunxiang Li, Kun Qian
wiley   +1 more source

Antisense suppression of the nonsense mediated decay factor Upf3b as a potential treatment for diseases caused by nonsense mutations

Genome Biology, 2018
Background About 11% of all human genetic diseases are caused by nonsense mutations that generate premature translation termination codons (PTCs) in messenger RNAs (mRNA).
Lulu Huang, Audrey Low, Sagar S. Damle, Melissa M. Keenan, Steven Kuntz, Susan F. Murray, Brett P. Monia, Shuling Guo   +7 more
doaj   +1 more source

A Compact Multijoint Finger Motion Sensing Module for Flexible Exoskeleton Applications

Advanced Intelligent Systems, EarlyView.
Addressing the motion estimation gap in underactuated wearable electronics, a highly integrated sensor alongside a customized readout circuit is proposed. Featuring a screen‐printed layout and optimized horseshoe geometry, this design establishes an optimal feedback mechanism for flexible hand exoskeletons while eliminating wiring clutter.
Huawei Zheng, Frédéric Lamarque, Hani Al Hajjar, Andreas Dietzel   +3 more
wiley   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Distinct responses of

Molecular Therapy: Nucleic Acids
Junctional epidermolysis bullosa (JEB) caused by COL17A1 pathogenic variants (JEB-C17) is characterized by skin fragility, chronic wounds, and an increased risk of squamous cell carcinoma.
Yan Tan, Haifa El Mabrouk, Rui Zhang, Sato Magassa, Cristina Has, Saliha Beyza Sayar   +5 more
doaj   +1 more source

Sometimes Hot, Sometimes Not: The Relations Between Selected Situational Vocational Interests and Situation Perception

European Journal of Personality, EarlyView., 2020
Abstract Vocational interests are traditionally conceived as stable preferences for different activities. However, recent theorizing suggests their intraindividual variability. This preregistered experience sampling study examined intraindividual variation in selected vocational interests states and related situation and person factors (N = 237 ...
Lena Roemer, Kai T. Horstmann, Matthias Ziegler, Jan‐Erik Lönnqvist   +3 more
wiley   +1 more source