Results 131 to 140 of about 2,885,338 (147)

A Genetic Risk Variant Associated With the Risk of Primary Biliary Cholangitis Is Inherited From Neanderthals

open access: yesLiver International, Volume 46, Issue 10, October 2026.
ABSTRACT Background Primary Biliary Cholangitis (PBC) is an autoimmune cholangiopathy with polygenic architecture and unknown aetiology. Evidence links Neanderthal‐derived genetic variants to autoimmune conditions; however, their contribution to PBC susceptibility remains unexplored.
Alessio Gerussi   +269 more
wiley   +1 more source

GhMYB106_D13 coordinates cuticle biosynthesis to build the dual shields for anther protection in upland cotton

open access: yesThe Plant Journal, Volume 128, Issue 1, October 2026.
SUMMARY The plant cuticle acts as a crucial barrier against abiotic stresses. In this study, the vulnerable anther (van) gene on chromosome D13 was map‐based cloned in upland cotton and identified as GhMYB106_D13. It was demonstrated that the differential distribution of MYB106 between D13 and A13 may represent post‐polyploidization convergent ...
Bin Gao   +4 more
wiley   +1 more source

Promoter identity shapes splicing outcomes and fidelity

open access: yesNature Communications
Gene expression is a complex process subject to regulation at multiple functionally interconnected levels. One prominent example is the crosstalk between transcription and splicing regulation. Past work has shown that transcription can influence splicing
Shaked Shanas   +4 more
doaj   +1 more source

A Deep Exon Cryptic Splice Site Promotes Aberrant Intron Retention in a Von Willebrand Disease Patient

open access: yesInternational Journal of Molecular Sciences, 2021
A translationally silent single nucleotide mutation in exon 44 (E44) of the von Willebrand factor (VWF) gene is associated with inefficient removal of intron 44 in a von Willebrand disease (VWD) patient.
John Conboy
exaly   +2 more sources

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping

open access: yesEuropean Journal of Human Genetics, 2009
Mutations that affect splicing of precursor messenger RNAs play a major role in the development of hereditary diseases. Most splicing mutations have been found to eliminate GT or AG dinucleotides that define the 5' and 3' ends of introns, leading to exon
Emanuele Buratti, Igor Vorechovsky
exaly   +2 more sources
Some of the next articles are maybe not open access.

Related searches:

A novel cryptic splice site mutation in as a cause of osteogenesis imperfecta

Bone Reports, 2021
Stéphane Blouin   +2 more
exaly  

Home - About - Disclaimer - Privacy