Results 221 to 230 of about 64,155 (301)

The Role of Chemistry Across Disciplines From Humanities to Life Sciences in Understanding Complexity and Emergence

Angewandte Chemie, EarlyView.
This study explores the origins of life by linking prebiotic chemistry, the emergence of information‐carrying molecules such as RNA and proteins, and philosophical questions about consciousness. The study emphasizes the role of molecular evolution in the Central Dogma and provides insights into the chemical origins of biology and the basis of life's ...
Harald Schwalbe, Josef Wachtveitl, Alexander Heckel, Florian Buhr, Sabrina Toews, Thomas M. Schimmer   +5 more
wiley   +2 more sources

A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy. [PDF]

Ital J Pediatr
Bai J, Li P, Jiao H, Jin Y, Wang H, Jiang Q, Song F, Peng X, Qu Y.   +8 more
europepmc   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

RBM10 loss promotes metastases by aberrant splicing of cytoskeletal and extracellular matrix mRNAs. [PDF]

J Exp Med
Krishnamoorthy GP, Glover AR, Untch BR, Sigcha-Coello N, Xu B, Vukel D, Liu Y, Tiedje V, Pineda JMB, Berman K, Tamarapu PP, Acuña-Ruiz A, Saqcena M, de Stanchina E, Boucai L, Ghossein RA, Knauf JA, Abdel-Wahab O, Bradley RK, Fagin JA.   +19 more
europepmc   +1 more source

Aberrant Splicing of tau Pre-mRNA Caused by Intronic Mutations Associated with the Inherited Dementia Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17

, 2000
Zhi‐Hong Jiang, Jocelyn Côté, Jennifer M. Kwon, Alison Goate, Jane Y. Wu   +4 more
openalex   +2 more sources

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

Annals of Neurology, EarlyView.
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano, Francesca Palumbo, Gabriele Mora, Salvatore Gallone, Giovanni De Marco, Ilaria Merulla, Claudia Paolantonio, Alessandra Maccabeo, Antonio Canosa, Umberto Manera, Rosario Vasta, Barbara Iazzolino, Marcella Testa, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Cristina Moglia, Andrea Calvo, Giuseppe Borghero, Adriano Chiò   +20 more
wiley   +1 more source

Novel <i>LYST</i> Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome. [PDF]

Genes (Basel)
Aleksenko M, Vlasova E, Kieva A, Abasov R, Rodina Y, Maschan M, Shcherbina A, Raykina E.   +7 more
europepmc   +1 more source

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source

Aberrant splicing in Huntington's disease accompanies disrupted TDP-43 activity and altered m6A RNA modification. [PDF]

Nat Neurosci
Nguyen TB, Miramontes R, Chillon-Marinas C, Maimon R, Vazquez-Sanchez S, Lau AL, McClure NR, Wu Z, Wang KQ, England WE, Singha M, Stocksdale JT, Heath M, Jang KH, Jung S, Ling K, Jafar-Nejad P, McKnight JI, Ho LN, Dalahmah OA, Faull RLM, Steffan JS, Reidling JC, Jang C, Lee G, Cleveland DW, Lagier-Tourenne C, Spitale RC, Thompson LM.   +28 more
europepmc   +1 more source

Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family

, 2012
Karina Lezirovitz, Ana Carla Batissoco, Fernanda Teresa de Lima, Maria T.B.M. Auricchio, Renata Watanabe Nonose, Simone R. dos Santos, Luiza Guilherme, Jeanne Oiticica, Regina Célia Mingroni‐Netto   +8 more
openalex   +1 more source