[HTML][HTML] Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
[HTML][HTML] Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
V Ismail, LG Zachariassen, A Godwin… - The American Journal of …, 2022 - cell.com
GRIA1 encodes the GluA1 subunit of α-amino-3-hydroxy-5-methyl-4-isoxazole propionate
(AMPA) receptors, which are ligand-gated ion channels that act as excitatory receptors for …
(AMPA) receptors, which are ligand-gated ion channels that act as excitatory receptors for …
[HTML][HTML] Evolutionary action of mutations reveals antimicrobial resistance genes in Escherichia coli
Since antibiotic development lags, we search for potential drug targets through directed
evolution experiments. A challenge is that many resistance genes hide in a noisy mutational …
evolution experiments. A challenge is that many resistance genes hide in a noisy mutational …
[HTML][HTML] Functional variants identify sex-specific genes and pathways in Alzheimer's Disease
The incidence of Alzheimer's Disease in females is almost double that of males. To search
for sex-specific gene associations, we build a machine learning approach focused on …
for sex-specific gene associations, we build a machine learning approach focused on …
[HTML][HTML] Identification of risk genes for Alzheimer's disease by gene embedding
Y Lagisetty, T Bourquard, I Al-Ramahi, CG Mangleburg… - Cell genomics, 2022 - cell.com
Most disease-gene association methods do not account for gene-gene interactions, even
though these play a crucial role in complex, polygenic diseases like Alzheimer's disease …
though these play a crucial role in complex, polygenic diseases like Alzheimer's disease …
[HTML][HTML] Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies
N Murtaza, AA Cheng, CO Brown, DP Meka, S Hong… - Cell Reports, 2022 - cell.com
There are hundreds of risk genes associated with autism spectrum disorder (ASD), but
signaling networks at the protein level remain unexplored. We use neuron-specific proximity …
signaling networks at the protein level remain unexplored. We use neuron-specific proximity …
[HTML][HTML] A cryptic microdeletion del (12)(p11. 21p11. 23) within an unbalanced translocation t (7; 12)(q21. 13; q23. 1) implicates new candidate loci for intellectual …
A Ben-Mahmoud, S Kishikawa, V Gupta, NT Leach… - Scientific reports, 2023 - nature.com
In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID),
who carried an apparently balanced translocation t (7; 12)(q22; q24) dn, array comparative …
who carried an apparently balanced translocation t (7; 12)(q22; q24) dn, array comparative …
[HTML][HTML] Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome
Epidemiological studies suggest that individuals with neurodevelopmental disorders (NDDs)
are more prone to develop certain types of cancer. Notably, however, the case statistics can …
are more prone to develop certain types of cancer. Notably, however, the case statistics can …
Evolution of cisplatin resistance through coordinated metabolic reprogramming of the cellular reductive state
Background Cisplatin (CDDP) is a mainstay treatment for advanced head and neck
squamous cell carcinomas (HNSCC) despite a high frequency of innate and acquired …
squamous cell carcinomas (HNSCC) despite a high frequency of innate and acquired …
[HTML][HTML] Functional studies of deafness-associated pendrin and prestin variants
S Takahashi, T Kojima, K Wasano… - International Journal of …, 2024 - mdpi.com
Pendrin and prestin are evolutionary-conserved membrane proteins that are essential for
normal hearing. Dysfunction of these proteins results in hearing loss in humans, and …
normal hearing. Dysfunction of these proteins results in hearing loss in humans, and …