Results 141 to 150 of about 49,802 (297)

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

Clinical Genetics, EarlyView.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova, Natalia Semenova, Tatiana Cherevatova, Mikhail Skoblov   +3 more
wiley   +1 more source

Predicting the Impact of Alternative Splicing on Plant MADS Domain Protein Function [PDF]

Several genome-wide studies demonstrated that alternative splicing (AS) significantly increases the transcriptome complexity in plants. However, the impact of AS on the functional diversity of proteins is difficult to assess using genome-wide approaches.
Busscher-Lange, J., Dijk, A.D.J., van, Ham, R.C.H.J., van, Immink, G.H., Morabito, G., Severing, E.I.   +5 more
core   +2 more sources

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, EarlyView.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

Two-exon skipping due to a point mutation in p67-phox--deficient chronic granulomatous disease [PDF]

, 1996
M Aoshima, Hiroyuki Nunoi, Mitsunobu Shimazu, S Shimizu, Osamu Tatsuzawa, Richard T. Kenney, Shiro Kanegasaki   +6 more
openalex   +1 more source

exon skipping as a therapeutic strategy in dysferlinopathy

, 2018
Dysferlinopathie ist eine Muskeldystrophie, die sich in zwei Hauptphänotypen manifestiert: Gliedergürtelmuskeldystrophie Typ 2B type 2B (LGMD2B) oder Miyoshi Myopathie (MM). Sie wird durch Mutationen im Dysferlin-Gen verursacht. Dysferlin ist ein Membranprotein, das im Skeletmuskel exprimiert wird.
openaire   +2 more sources

Long‐read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms

Epilepsia, EarlyView.
Abstract Objective Fibroblast growth factor 12 (FGF12), a member of the fibroblast homologous factor family, plays a key role in the modulation of voltage‐gated sodium (Nav) channels. Pathogenic variants in the FGF12 gene leading to a gain‐of‐function mechanism and partial duplication encompassing the FGF12 gene leading to a loss‐of‐function mechanism ...
Jade Fauqueux, Laurence Chaton, Pierre Cleuziou, Anne‐Sophie Diependaële, Nathalie Bach, Nicolas Gruchy, Marion Gerard, Jean‐Pascal Meneboo, Céline Villenet, Martin Figeac, Emilie Ait‐Yahya, Caroline Thuillier, Elise Boudry, Adeline Trauffler, Sylvie Nguyen‐The‐Tich, Simon Boussion, Roseline Caumes, Jamal Ghoumid, Thomas Smol   +18 more
wiley   +1 more source

β‐Spectrin Campinas: a novel shortened β‐chain variant associated with skipping of exon 30 and hereditary elliptocytosis [PDF]

, 1997
Daniela S. Daniela Sanchez Bassères, Patrícia Pranke, Tereza S. I. Sales, Fernando Ferreira Costa, Sara T.O. Saad   +4 more
openalex   +1 more source

TDP‐43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models

The FEBS Journal, EarlyView.
The manuscript explores structural and functional features of TDP‐43 and its worm homologue, TDP‐1, highlighting conserved and divergent structural and functional features. Using genetically engineered C. elegans models, key pathological features of TDP‐43 proteinopathies—including aggregation, neurodegeneration, and motor deficits—are recapitulated ...
Ghulam Jeelani Pir, Joerg Buddenkotte, Majid Ali Alam, Ahmed Own, Randall J. Eck, Brian C. Kraemer, Eckhard Mandelkow, Martin Steinhoff   +7 more
wiley   +1 more source

A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency [PDF]

, 1997
Juan Pié, Núria Casals, César H. Casale, Carlos Buesa, Cristina Mascaró, Anna Barceló, Marie-Odile Rolland, Theresa ZABOT, Diego Haro, François Eyskens, P. Divry, Fausto G. Hegardt   +11 more
openalex   +1 more source

Characterising the Transcriptomic Response to Interferon and Infection in European Domestic Ferret Respiratory Tissues Using Long‐Read RNA Sequencing

Immunology, EarlyView.
We utilised long‐read Nanopore sequencing to characterise the transcriptome of ferret cell lines stimulated with IFN‐α as well as nasal turbinates from ferrets infected with influenza A virus. We identified novel genes and isoforms and observed elongation of poly(A) tails in the ribosome and Coronavirus Disease‐19 pathways in response to IFN‐α ...
Rubaiyea Farrukee, Jessie J.‐Y. Chang, Jianshu Zhang, James B. Barnes, Shu Xin Zhang, Sher Maine Tan, Patrick C. Reading, Lachlan J. M. Coin   +7 more
wiley   +1 more source