Results 181 to 190 of about 640,277 (286)

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain. [PDF]

Acta Myol
Armijo J, Nascimento A, Expósito J, Carrera L, Natera-de Benito D, Ortez C.   +5 more
europepmc   +1 more source

Translating Riedl: The Circulation and Operationalisation of Evolutionary Ideas

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Rupert Riedl's Order in Living Organisms proposed a systems theory of evolution decades before the concepts it pioneered—homology, burden, the imitative epigenotype—reached the agenda of evolutionary biology. This paper reconstructs the lineages that operationalized his insights across several fields and explores the internal and external reasons for ...
Laura Nuño de la Rosa
wiley   +1 more source

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

Identification of a Novel Nonsense Mutation in the <i>IGSF1</i> Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family. [PDF]

Children (Basel)
Ruta R, Massaccesi N, Mucciolo M, Sparaci A, Fabbrizi E, Novelli A.   +5 more
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

A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene. [PDF]

Clin Case Rep
E C, Ahmed M, Wang Y, Wang J, Wu S, Meng Z.   +5 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

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

Hereditary Spherocytosis due to an SPTA1 Nonsense Mutation Coinherited With α spectrin^LELY in Trans. [PDF]

Am J Hematol
Molina-Arrebola MA, Bain BJ.
europepmc   +1 more source