Results 191 to 200 of about 747,509 (280)

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

A quantitative comparison of the deleteriousness of missense and nonsense mutations using the structurally resolved human protein interactome. [PDF]

Protein Sci
Su TY, Xia Y.
europepmc   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Optimization of ACE-tRNAs function in translation for suppression of nonsense mutations. [PDF]

Nucleic Acids Res
Porter JJ, Ko W, Sorensen EG, Lueck JD.
europepmc   +1 more source

Nonsense verse: Analysis of the meaning and possibility of translation.

reservedStudio e analisi semiotica della letteratura nonsense, con particolare attenzione al punto di vista semantico, sintattico e morfologico e indagine sulle sue effettive possibilità di traduzione.
RONCON, LEONORA
core  

SPG4 Hereditary Spastic Paraplegia: From Etiology to Therapy

Movement Disorders, EarlyView.
Abstract Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of heritable neurodegenerative disorders resulting from mutations in a wide variety of genes. HSP locomotor symptoms include lower limb weakness and spasticity that arise from progressive degeneration of corticospinal axons projecting from the motor cortex to the distal ...
Emanuela Piermarini, Peter W. Baas
wiley   +1 more source

A precision medicine approach to primary immunodeficiency disease: Ataluren strikes nonsense mutations once again. [PDF]

Mol Ther
Lentini L, Perriera R, Corrao F, Melfi R, Tutone M, Carollo PS, Fiduccia I, Pace A, Ricci D, Genovese F, Colige A, Delvenne P, Grimbacher B, Moutschen M, Pibiri I.   +14 more
europepmc   +1 more source

Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell‐cycle, MAPK, and PI3K pathways

The Journal of Pathology, EarlyView.
Abstract Mucosal melanomas (MMs) are rare, aggressive cancers with poor outcomes and limited response to standard therapies. A significant knowledge gap exists regarding their genomic landscape and corresponding druggable targets. This study explores this issue through a multi‐omic analysis, including whole exome‐, RNA‐, and targeted sequencing, of ...
Matilde Monti, Martina Brigida Romanello, Luca Agnelli, Matteo Orlandi, Luca Bertoli, Sara Picinoli, Irene Pezzali, Giulio Eugenio Mandelli, Daniela Medicina, Giovanni Ribaudo, Adele Busico, Elena Conca, Vilma Pellegrini, Piera Balzarini, Daniele Gallucci, Anna Di Matteo, Davide Lombardi, Claudia Ghigna, Giancarlo Pruneri, Alessandra Gianoncelli, Marzia Rossato, William Vermi   +21 more
wiley   +1 more source

Comprehensive phenotypic assessment of nonsense mutations in mitochondrial ND5 in mice. [PDF]

Exp Mol Med
Kim S, Park SG, Kim J, Hong S, Cho SM, Lim SY, Kim EK, Ju S, Lee SB, Kim SP, Jeong TY, Oh Y, Han S, Kim HR, Lee TC, Kim HC, Yoon WK, An TH, Oh KJ, Nam KH, Lee S, Kim K, Seong JK, Lee H.   +23 more
europepmc   +1 more source

Factor XIII Deficiency with a Novel Nonsense Mutation

Indian Journal of Hematology and Blood Transfusion, 2020
Vipin, Khandelwal, Sanjeev Kumar, Sharma, Divya, Doval, Meet, Kumar, Dharma, Choudhary, Rachna, Sharma, Vedam L, Ramprasad   +6 more
openaire   +3 more sources