[HTML][HTML] Nuclear transport proteins: Structure, function, and disease relevance
Y Yang, L Guo, L Chen, B Gong, D Jia… - Signal Transduction and …, 2023 - nature.com
Proper subcellular localization is crucial for the functioning of biomacromolecules, including
proteins and RNAs. Nuclear transport is a fundamental cellular process that regulates the …
proteins and RNAs. Nuclear transport is a fundamental cellular process that regulates the …
[HTML][HTML] Generating membrane curvature at the nuclear pore: A lipid point of view
BWA Peeters, ACA Piët, M Fornerod - Cells, 2022 - mdpi.com
In addition to its structural role in enclosing and protecting the genome, the nuclear
envelope (NE) forms a highly adaptive communication interface between the cytoplasm and …
envelope (NE) forms a highly adaptive communication interface between the cytoplasm and …
[HTML][HTML] Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
C Arrondel, S Missoury, R Snoek, J Patat… - Nature …, 2019 - nature.com
N6-threonyl-carbamoylation of adenosine 37 of ANN-type tRNAs (t6A) is a universal
modification essential for translational accuracy and efficiency. The t6A pathway uses two …
modification essential for translational accuracy and efficiency. The t6A pathway uses two …
The genomics of ecological flexibility, large brains, and long lives in capuchin monkeys revealed with fecalFACS
JD Orkin, MJ Montague… - Proceedings of the …, 2021 - National Acad Sciences
Ecological flexibility, extended lifespans, and large brains have long intrigued evolutionary
biologists, and comparative genomics offers an efficient and effective tool for generating new …
biologists, and comparative genomics offers an efficient and effective tool for generating new …
[HTML][HTML] Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
Purpose Lamins are the major component of nuclear lamina, maintaining structural integrity
of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders …
of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders …
[HTML][HTML] Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis
P Magini, DJ Smits, L Vandervore, R Schot… - The American Journal of …, 2019 - cell.com
Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in
intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis …
intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis …
Nuclear pore complexes in development and tissue homeostasis
V Guglielmi, S Sakuma, MA D'Angelo - Development, 2020 - journals.biologists.com
Nuclear pore complexes are multiprotein channels that span the nuclear envelope, which
connects the nucleus to the cytoplasm. In addition to their main role in the regulation of …
connects the nucleus to the cytoplasm. In addition to their main role in the regulation of …
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes
DJ Smits, R Schot, N Krusy, K Wiegmann… - Brain, 2023 - academic.oup.com
Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmental
disorder with progressive congenital microcephaly and early death. SMPD4 encodes a …
disorder with progressive congenital microcephaly and early death. SMPD4 encodes a …
[HTML][HTML] Congenital microcephaly: a debate on diagnostic challenges and etiological paradigm of the shift from isolated/non-syndromic to syndromic microcephaly
M Asif, U Abdullah, P Nürnberg, S Tinschert… - Cells, 2023 - mdpi.com
Congenital microcephaly (CM) exhibits broad clinical and genetic heterogeneity and is thus
categorized into several subtypes. However, the recent bloom of disease–gene discoveries …
categorized into several subtypes. However, the recent bloom of disease–gene discoveries …
[HTML][HTML] Genome-wide association study for single nucleotide polymorphism associated with mural and cumulus granulosa cells of PCOS (polycystic ovary syndrome) …
Background The genetic make-up of local granulosa cells and their function in the
pathophysiology of polycystic ovary syndrome (PCOS) is crucial to a full comprehension of …
pathophysiology of polycystic ovary syndrome (PCOS) is crucial to a full comprehension of …