Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1-3 ins/del variants in <i>CYP21A2</i> causes non-classical congenital adrenal hyperplasia in a Chinese girl. [PDF]
Li N, Lu C, Gu HF, An X.
europepmc +1 more source
PSMA8‐Containing 20S Proteasome Regulates Spermiogenesis and Male Fertility
PSMA8 assembles s20S proteasome that degrades specific substrates in elongating spermatids. Degradation of s20S‐substrates activates translation of FXR1‐target mRNAs, which are essential for mitochondrial sheath formation and sperm morphogenesis.
Huiwen Cao +7 more
wiley +1 more source
Decoding exon inclusion in the human brain reveals more divergent splicing mechanisms in neurons than glia. [PDF]
Michielsen L +6 more
europepmc +1 more source
Updated nomenclature for human and mouse neurofibromatosis type 1 genes [PDF]
Anastasaki, Corina +3 more
core +2 more sources
Identifying Cytokine Motif‐Containing, Immunomodulatory Bacterial Proteins in Human Gut Microbiome
By building and constructing HMM (Upper left, blue), the authors identify CMCPs in bacteria genomes and CRC related metagenomes and enriched CRC‐related CMCPs (Upper right, blue). They analyze sequence and structural similarity of hits (Lower left, green), test function with engineered EcN delivered to tumors in a mouse tumor model (Lower right, pink ...
Ziyu Wang +12 more
wiley +1 more source
New PPARG Exons: Cell-Specific Expression of Their RNAs in the Human Placenta. [PDF]
Vignaud ML, Morin N, Fournier T.
europepmc +1 more source
This study constructed the first spatiotemporal multi‐omics map of peach fruit and discovered a key candidate gene that synergistically regulates trichome development and drought tolerance through the jasmonic acid signaling pathway, providing insights into the coupling mechanism between development and stress resistance.
Zhixin Liu +9 more
wiley +1 more source
Unusual Intron Conservation near Tissue-Regulated Exons Found by Splicing Microarrays.
Alternative splicing contributes to both gene regulation and protein diversity. To discover broad relationships between regulation of alternative splicing and sequence conservation, we applied a systems approach, using oligonucleotide microarrays ...
doaj +1 more source
Inverted Alu repeats in loop-out exon skipping across hominoid evolution. [PDF]
Denisko D, Kim J, Ku J, Zhao B, Lee EA.
europepmc +1 more source

