Lessons from non-canonical splicing

CR Sibley, L Blazquez, J Ule - Nature Reviews Genetics, 2016 - nature.com
Recent improvements in experimental and computational techniques that are used to study
the transcriptome have enabled an unprecedented view of RNA processing, revealing many …

Advances in differential diagnosis and management of growth hormone deficiency in children

C Hage, HW Gan, A Ibba, G Patti, M Dattani… - Nature Reviews …, 2021 - nature.com
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 …

Self-domestication in Homo sapiens: Insights from comparative genomics

C Theofanopoulou, S Gastaldon, T O'Rourke… - PloS one, 2017 - journals.plos.org
This study identifies and analyzes statistically significant overlaps between selective sweep
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

AL Pendleton, F Shen, AM Taravella, S Emery… - BMC biology, 2018 - Springer
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 …

Emerging roles of spliceosome in cancer and immunity

H Yang, B Beutler, D Zhang - Protein & cell, 2022 - academic.oup.com
Precursor messenger RNA (pre-mRNA) splicing is catalyzed by an intricate
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 …

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 …

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 …

[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 …

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 …