Results 191 to 200 of about 111,505 (240)

Beyond the stop: Oxadiazole TRIDs restore LRBA protein expression in nonsense-driven primary immunodeficiency. [PDF]

Mol Ther Nucleic Acids
Fiduccia I, Vitale E, Varrica R, Ricci D, Marino S, Zito A, Pace A, Colige A, Moutschen M, Borutzki Y, Bileck A, Meier-Menches SM, Lentini L, Pibiri I.   +13 more
europepmc   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk. [PDF]

Nat Commun
Boonen RACM, Knaup SC, Menafra R, Braspenning ME, Rother MB, Kleiblova P, Janatova M, Ruano D, Hu C, Huang H, Joseph V, Conry M, Heijl S, Vroling B, Goeman JJ, Varga M, CZECANCA consortium, Richardson ME, Kloet SL, Couch FJ, Vreeswijk MPG, van Attikum H.   +21 more
europepmc   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family. [PDF]

Genet Mol Biol
Fatima S, Sun D, Han J, Qiu M, Ahmad S, Zubair M, Ali MZ, Abbas S, Shafiq M, Muzammal M, Gul H, Khan J, Du S, Khan MA.   +13 more
europepmc   +1 more source

Open diffusion magnetic resonance imaging and connectivity data for epilepsy and surgery: The IDEAS II release

Epilepsia, EarlyView.
Abstract Objective Epileptic seizures are generated in cerebral networks that propagate ictal and interictal activity. The structure of cerebral networks underpinning epileptic activity can be inferred from diffusion‐weighted magnetic resonance imaging (DWI).
Peter N. Taylor, Gerard Hall, Jonathan Horsley, Yujiang Wang, Sjoerd B. Vos, Gavin P. Winston, Andrew W. McEvoy, Anna Miserocchi, Jane de Tisi, John S. Duncan   +9 more
wiley   +1 more source

Clinical, genetic, and familial features of POT1 tumor predisposition syndrome. [PDF]

Cancer
DiNardo CD, Croden J, Abdel-Salam HM, Kadia T, Molica M, Bazinet A, Bose P, Maiti A, Haddad F, Burger J, Kantarjian H, Wierda W, Jain N, Ferrajoli A.   +13 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review. [PDF]

Front Pediatr
Cheng P, Wang G, Qiu J, Xie X, An Y.
europepmc   +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