Lessons from non-canonical splicing
Recent improvements in experimental and computational techniques that are used to study
the transcriptome have enabled an unprecedented view of RNA processing, revealing many …
the transcriptome have enabled an unprecedented view of RNA processing, revealing many …
Advances in differential diagnosis and management of growth hormone deficiency in children
Growth hormone (GH) deficiency (GHD) in children is defined as impaired production of GH
by the pituitary gland that results in growth failure. This disease might be congenital or …
by the pituitary gland that results in growth failure. This disease might be congenital or …
Self-domestication in Homo sapiens: Insights from comparative genomics
This study identifies and analyzes statistically significant overlaps between selective sweep
screens in anatomically modern humans and several domesticated species. The results …
screens in anatomically modern humans and several domesticated species. The results …
Comparison of village dog and wolf genomes highlights the role of the neural crest in dog domestication
Background Domesticated from gray wolves between 10 and 40 kya in Eurasia, dogs
display a vast array of phenotypes that differ from their ancestors, yet mirror other …
display a vast array of phenotypes that differ from their ancestors, yet mirror other …
Emerging roles of spliceosome in cancer and immunity
Precursor messenger RNA (pre-mRNA) splicing is catalyzed by an intricate
ribonucleoprotein complex called the spliceosome. Although the spliceosome is considered …
ribonucleoprotein complex called the spliceosome. Although the spliceosome is considered …
Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome
V Madan, D Kanojia, J Li, R Okamoto… - Nature …, 2015 - nature.com
Somatic mutations in the spliceosome gene ZRSR2—located on the X chromosome—are
associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of …
associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of …
Mechanisms in endocrinology: novel genetic causes of short stature
JM Wit, W Oostdijk, M Losekoot… - European Journal of …, 2016 - academic.oup.com
The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …
Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability
A Dauber, MT Muñoz‐Calvo, V Barrios… - EMBO molecular …, 2016 - embopress.org
Mutations in multiple genes of the growth hormone/IGF‐I axis have been identified in
syndromes marked by growth failure. However, no pathogenic human mutations have been …
syndromes marked by growth failure. However, no pathogenic human mutations have been …
[HTML][HTML] Minor spliceosome and disease
B Verma, MV Akinyi, AJ Norppa, MJ Frilander - Seminars in cell & …, 2018 - Elsevier
Abstract The U12-dependent (minor) spliceosome excises a rare group of introns that are
characterized by a highly conserved 5′ splice site and branch point sequence. Several …
characterized by a highly conserved 5′ splice site and branch point sequence. Several …
RIP-PEN-seq identifies a class of kink-turn RNAs as splicing regulators
B Li, S Liu, W Zheng, A Liu, P Yu, D Wu, J Zhou… - Nature …, 2024 - nature.com
A kink-turn (K-turn) is a three-dimensional RNA structure that exists in all three primary
phylogenetic domains. In this study, we developed the RIP-PEN-seq method to identify the …
phylogenetic domains. In this study, we developed the RIP-PEN-seq method to identify the …