Results 221 to 230 of about 217,998 (332)

M6A-dependent RNA condensation underlies FUS autoregulation and can be harnessed for ALS therapy development. [PDF]

Sci Adv
Huang WP, Kumar V, Yap K, An H, John SJ, Hodgson RE, Avila AS, Day E, Ellis BCS, Chung TH, Lord J, Müller-McNicoll M, Makeyev EV, Shelkovnikova TA.   +13 more
europepmc   +1 more source

Construction of a yeast strain devoid of mitochondrial introns and its use to screen nuclear genes involved in mitochondrial splicing. [PDF]

, 1987
Bertrand Séraphin, Aren Boulet, M. Simon, G. Faye   +3 more
openalex   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report

Ibrain, EarlyView., 2023
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Leucine‐rich repeats and sterility α mutations in motif 1 (LRSAM1) has been proven to be involved in the pathogenesis of ALS.
Ji‐Yao Qin, Zun‐Lin Zhou, Yuan‐Qing Zhou, Ya Chen, Xiao‐Yan Yang, Hai‐Qing Zhang, Zu‐Cai Xu   +6 more
wiley   +1 more source

Computational De Novo Design of Group II Introns Yields Highly Active Ribozymes. [PDF]

Chembiochem
Szokoli D, Nwosu NE, Glatt LM, Mutschler H.   +3 more
europepmc   +1 more source

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, William J. Rowell, Christine Lambert, Cairbre Fanslow, Alexander Robertson, Juan C. Zenteno   +6 more
wiley   +1 more source

Mitochondrial genome characterization, evolution and intron dynamics of the entomopathogenic genus <i>Cordyceps</i>. [PDF]

Front Microbiol
Jia J, Li C, Tang M, Liao H, Yang Z, Wang Y, Li M, Zeng W, Wang Y.   +8 more
europepmc   +1 more source

Intron-dependent evolution of the nucleotide-binding domains within alcohol dehydrogenase and related enzymes [PDF]

, 1986
Gregg Duester, Hans Jörnvall, G. Wesley Hatfield   +2 more
openalex   +1 more source

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus, Maria Eduarda Andrade de Carvalho, Antonio Mutarelli, Paulo Victor Zattar Ribeiro   +7 more
wiley   +1 more source

Identification of splicing signals in introns of yeast mitochnodrial split genes: mutational alterations in intron bI 1 and secondary structures in related introns [PDF]

, 1982
Carlo Schmelzer, Cornelia Schmidt, Rudolf J. Schweyen   +2 more
openalex   +1 more source