Results 251 to 260 of about 838,175 (338)

Erratum. [PDF]

Mol Syndromol
europepmc   +1 more source

Transcriptomics Reveal Molecular Signatures of a Resolved Sexual Conflict and Potential Association With Colour Polymorphism in Tawny Owls. [PDF]

Mol Ecol
Baltazar-Soares M, Heckwolf MJ, Hoeppner MP, Karell P, Wright D, Nilsson JÅ, Brommer JE.   +6 more
europepmc   +1 more source

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

Proceedings of the National Academy of Sciences of the United States of America, 2013
K. Sathasivam, Andreas Neueder, T. A. Gipson, C. Landles, Agnesska C. Benjamin, Marie K Bondulich, Donna L. Smith, R. Faull, R. Roos, D. Howland, P. Detloff, D. Housman, G. Bates   +12 more
semanticscholar   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Exon inclusion signatures enable accurate estimation of splicing factor activity. [PDF]

Nat Commun
Anglada-Girotto M, Segura-Morales C, Moakley DF, Zhang C, Miravet-Verde S, Califano A, Serrano L.   +6 more
europepmc   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Decoding exon inclusion in the human brain reveals more divergent splicing mechanisms in neurons than glia. [PDF]

Genome Biol
Michielsen L, Hsu J, Joglekar A, Belchikov N, Reinders MJT, Tilgner HU, Mahfouz A.   +6 more
europepmc   +1 more source

The spliceosome deposits multiple proteins 20–24 nucleotides upstream of mRNA exon–exon junctions

EMBO Journal, 2000
Hervé Le Hir, E. Izaurralde, L. Maquat, M. Moore   +3 more
semanticscholar   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Decoding the Avian Missing Gene Mystery: Dot Chromosomes Unmask Extensive Gene Loss and Novel Genetic Instability. [PDF]

Genome Biol Evol
Hron T, Miklík D, Pačes J, Pajer P, Pečenka V, Hejnar J, Nehyba J, Elleder D.   +7 more
europepmc   +1 more source