[HTML][HTML] Alternative splicing in prostate cancer progression and therapeutic resistance
C Rawat, HV Heemers - Oncogene, 2024 - nature.com
Prostate cancer (CaP) remains the second leading cause of cancer deaths in western men.
CaP mortality results from diverse molecular mechanisms that mediate resistance to the …
CaP mortality results from diverse molecular mechanisms that mediate resistance to the …
Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain
Neuropsychiatric genome-wide association studies (GWASs), including those for autism
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …
Transcriptome‐Wide Association Studies (TWAS): Methodologies, Applications, and Challenges
P Evans, T Nagai, A Konkashbaev, D Zhou… - Current …, 2024 - Wiley Online Library
Transcriptome‐wide association study (TWAS) methodologies aim to identify genetic effects
on phenotypes through the mediation of gene transcription. In TWAS, in silico models of …
on phenotypes through the mediation of gene transcription. In TWAS, in silico models of …
[HTML][HTML] Neuron type-specific proteomics reveals distinct Shank3 proteoforms in iSPNs and dSPNs lead to striatal synaptopathy in Shank3B–/– mice
YZ Wang, T Perez-Rosello, SN Smukowski… - Molecular …, 2024 - nature.com
Combinatorial expression of postsynaptic proteins underlies synapse diversity within and
between neuron types. Thus, characterization of neuron-type-specific postsynaptic …
between neuron types. Thus, characterization of neuron-type-specific postsynaptic …
[HTML][HTML] Network-wide risk convergence in gene co-expression identifies reproducible genetic hubs of schizophrenia risk
C Borcuk, M Parihar, L Sportelli, JE Kleinman, JH Shin… - Neuron, 2024 - cell.com
The omnigenic model posits that genetic risk for traits with complex heritability involves
cumulative effects of peripheral genes on mechanistic" core genes," suggesting that in a …
cumulative effects of peripheral genes on mechanistic" core genes," suggesting that in a …
[HTML][HTML] Widespread variation in molecular interactions and regulatory properties among transcription factor isoforms
L Lambourne, K Mattioli, C Santoso, G Sheynkman… - bioRxiv, 2024 - ncbi.nlm.nih.gov
Summary Most human Transcription factors (TFs) genes encode multiple protein isoforms
differing in DNA binding domains, effector domains, or other protein regions. The global …
differing in DNA binding domains, effector domains, or other protein regions. The global …
[HTML][HTML] Accounting for isoform expression increases power to identify genetic regulation of gene expression
N LaPierre, H Pimentel - PLOS Computational Biology, 2024 - journals.plos.org
A core problem in genetics is molecular quantitative trait locus (QTL) mapping, in which
genetic variants associated with changes in the molecular phenotypes are identified. One of …
genetic variants associated with changes in the molecular phenotypes are identified. One of …
Genomics yields biological and phenotypic insights into bipolar disorder
KS O'Connell, M Koromina, T van der Veen, T Boltz… - medRxiv, 2023 - medrxiv.org
Bipolar disorder (BD) is a leading contributor to the global burden of disease. Despite high
heritability (60-80%), the majority of the underlying genetic determinants remain unknown …
heritability (60-80%), the majority of the underlying genetic determinants remain unknown …
Circadian clocks in human cerebral organoids
NM Rzechorzek, MA Sutcliffe, A Mihut, K Baranes… - bioRxiv, 2024 - biorxiv.org
Circadian rhythms result from cell-intrinsic timing mechanisms that impact health and
disease1, 2. To date, however, neural circadian research has largely focused on the …
disease1, 2. To date, however, neural circadian research has largely focused on the …
[HTML][HTML] Sex-differential gene expression in developing human cortex and its intersection with autism risk pathways
Background Sex-differential biology may contribute to the consistently male-biased
prevalence of autism spectrum disorder (ASD). Gene expression differences between males …
prevalence of autism spectrum disorder (ASD). Gene expression differences between males …