Results 171 to 180 of about 157,645 (329)

Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study

Annals of Neurology, EarlyView.
Objective Gain‐of‐function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and epileptic encephalopathies, and focal epilepsy.
Marina Trivisano, Ilaria Mosca, Licia Salimbene, Angela De Dominicis, Paolo Ambrosino, Deborah Puzo, Ilenio Servettini, Cinzia Correale, Chiara Falamesca, Cristina Filosomi, Bianca Goffredo, Maria Virginia Soldovieri, Maurizio Taglialatela, Nicola Specchio   +13 more
wiley   +1 more source

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Human Mutation, Volume 43, Issue 12, Page 2308-2323, December 2022., 2022
Abstract Modeling splicing is essential for tackling the challenge of variant interpretation as each nucleotide variation can be pathogenic by affecting pre‐mRNA splicing via disruption/creation of splicing motifs such as 5′/3′ splice sites, branch sites, or splicing regulatory elements.
Raphaël Leman, Béatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot, Gérald Le Gac, Chandran Ka, Claude Ferec, Yann Fichou, Céline Quesnelle, Camille Aucouturier, Etienne Muller, Dominique Vaur, Laurent Castera, Flavie Boulouard, Agathe Ricou, Hélène Tubeuf, Omar Soukarieh, Pascaline Gaildrat, Florence Riant, Marine Guillaud‐Bataille, Sandrine M. Caputo, Virginie Caux‐Moncoutier, Nadia Boutry‐Kryza, Françoise Bonnet‐Dorion, Ines Schultz, Maria Rossing, Olivier Quenez, Louis Goldenberg, Valentin Harter, Michael T. Parsons, Amanda B. Spurdle, Thierry Frébourg, Alexandra Martins, Claude Houdayer, Sophie Krieger   +35 more
wiley   +1 more source

The importance of dynamic reanalysis In diagnostic whole exome sequencing [PDF]

, 2016
Goldstein, DB, Need, AC, Petrovski, SP, Schoch, K, Shashi, V   +4 more
core   +1 more source

Whole-exome Sequencing and an iPSC-Derived Cardiomyocyte Model Provides a Powerful Platform for Gene Discovery in Left Ventricular Hypertrophy [PDF]

, 2012
Dai Zhi, Marguerite R. Irvin, C. Charles Gu, Alexander J. Stoddard, Rachel Lorier, Andrea Matter, D. C. Rao, Vinodh Srinivasasainagendra, Hemant K. Tiwari, Amy Turner, Ulrich Broeckel, Donna K. Arnett   +11 more
openalex   +1 more source

Regulation of Chondrocyte Metabolism and Osteoarthritis Development by Sirt5 Through Protein Lysine Malonylation

Arthritis &Rheumatology, EarlyView.
Objective Chondrocytemetabolic dysfunction plays an important role in osteoarthritis (OA) development during aging and obesity. Protein posttranslational modifications (PTMs) have recently emerged as an important regulator of cellular metabolism. We aim to study one type of PTM, lysine malonylation (MaK), and its regulator sirtuin 5 (Sirt5) in OA ...
Huanhuan Liu, Anupama Binoy, Siqi Ren, Thomas C. Martino, Anna E. Miller, Craig R. G. Willis, Shivakumar R. Veerabhadraiah, Joanna Bons, Jacob P. Rose, Birgit Schilling, Michael J. Jurynec, Shouan Zhu   +11 more
wiley   +1 more source

VariantAlert: A web‐based tool to notify updates in genetic variant annotations

Human Mutation, Volume 43, Issue 12, Page 1808-1815, December 2022., 2022
Abstract The reinterpretation of variants based on updated annotations is part of the routine work of research laboratories: the more data is collected about a specific variant, the higher the probability to reinterpret its classification. To support this task, we developed VariantAlert, a web‐based tool to help researchers and clinicians to be ...
Rossano Atzeni, Matteo Massidda, Giorgio Fotia, Paolo Uva   +3 more
wiley   +1 more source

Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways

, 2011
Jian Wu, Yuchen Jiao, Marco Dal Molin, Anirban Maitra, Roeland F. de Wilde, Laura D. Wood, James R. Eshleman, Michael Goggins, Christopher L. Wolfgang, Marcia I. Canto, Richard D. Schulick, Barish H. Edil, Michael A. Choti, Volkan Adsay, David S. Klimstra, G. Johan A. Offerhaus, Alison P. Klein, Levy Kopelovich, Hannah Carter, Rachel Karchin, Peter J. Allen, C. Max Schmidt, Yoshiki Naito, Luis A. Díaz, Kenneth W. Kinzler, Nickolas Papadopoulos, Ralph H. Hruban, Bert Vogelstein   +27 more
openalex   +1 more source

A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus

American Journal of Medical Genetics Part A, EarlyView.
Leanne de Kock, Macarena Nougues, Madeline Couse, Wendy Mears, Alison J. Eaton, Kristin D. Kernohan, Care4Rare Canada Consortium, Margarita Larralde, Kym M. Boycott   +8 more
wiley   +1 more source

m6A‐mRNA Reader YTHDF2 Identified as a Potential Risk Gene in Autism With Disproportionate Megalencephaly

Autism Research, EarlyView.
ABSTRACT Among autistic individuals, a subphenotype of disproportionate megalencephaly (ASD‐DM) seen at three years of age is associated with co‐occurring intellectual disability and poorer prognoses later in life. However, many of the genes contributing to ASD‐DM have yet to be delineated. In this study, we identified additional ASD‐DM candidate genes
Sierra S. Nishizaki, Nicholas K. Haghani, Gabriana N. La, Natasha Ann F. Mariano, José M. Uribe‐Salazar, Gulhan Kaya, Melissa Regester, Derek Sayre Andrews, Christine Wu Nordahl, David G. Amaral, Megan Y. Dennis   +10 more
wiley   +1 more source

Somatic mutations reveal complex metastatic seeding from multifocal primary prostate cancer

International Journal of Cancer, Volume 152, Issue 5, Page 945-951, 1 March 2023., 2023
What's new? Intrapatient tumor heterogeneity and clonal evolution of primary tumor foci into metastatic disease remain significant challenges for prostate cancer treatment. Here, investigating metastatic lesion origins, the authors compared somatic mutations in spatially distinct primary foci to mutations in recurring disease in seven prostate cancer ...
Kristina T. Carm, Bjarne Johannessen, Mari Bogaard, Anne Cathrine Bakken, Aase V. Maltau, Andreas M. Hoff, Ulrika Axcrona, Karol Axcrona, Ragnhild A. Lothe, Rolf I. Skotheim   +9 more
wiley   +1 more source