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Mendelian inheritance revisited: dominance and recessiveness in medical genetics
Understanding the consequences of genotype for phenotype (which ranges from molecule-
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
Most known pathogenic mutations occur in protein-coding regions of DNA and change the
way proteins are made. Taking protein structure into account has therefore provided great …
way proteins are made. Taking protein structure into account has therefore provided great …
Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search
D He, M Zhang, Y Li, F Liu, B Ban - Orphanet Journal of Rare Diseases, 2024 - Springer
Ankyrin repeat domain containing-protein 11 (ANKRD11), a transcriptional factor
predominantly localized in the cell nucleus, plays a crucial role in the expression regulation …
predominantly localized in the cell nucleus, plays a crucial role in the expression regulation …
Integrative proteomic characterization of adenocarcinoma of esophagogastric junction
S Li, L Yuan, ZY Xu, JL Xu, GP Chen, X Guan… - Nature …, 2023 - nature.com
The incidence of adenocarcinoma of the esophagogastric junction (AEG) has been rapidly
increasing in recent decades, but its molecular alterations and subtypes are still obscure …
increasing in recent decades, but its molecular alterations and subtypes are still obscure …
Intrinsic endothelial hyperresponsiveness to inflammatory mediators drives acute episodes in models of Clarkson disease
AJ Ablooglu, WS Chen, Z ** using Interferometric Synthetic Aperture Radar (InSAR) and machine learning models in a semiarid region of Iran
Most published studies identify groundwater extraction as the leading cause of land
subsidence (LS). However, the causes of LS are not only attributable to groundwater …
subsidence (LS). However, the causes of LS are not only attributable to groundwater …
Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs
Mutations in human proteins lead to diseases. The structure of these proteins can help
understand the mechanism of such diseases and develop therapeutics against them. With …
understand the mechanism of such diseases and develop therapeutics against them. With …
Understanding structure-guided variant effect predictions using 3D convolutional neural networks
G Ramakrishnan, C Baakman, S Heijl… - Frontiers in molecular …, 2023 - frontiersin.org
Predicting pathogenicity of missense variants in molecular diagnostics remains a challenge
despite the available wealth of data, such as evolutionary information, and the wealth of …
despite the available wealth of data, such as evolutionary information, and the wealth of …
Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases
Many dominant genetic disorders result from protein-altering mutations, acting primarily
through dominant-negative (DN), gain-of-function (GOF), and loss-of-function (LOF) …
through dominant-negative (DN), gain-of-function (GOF), and loss-of-function (LOF) …
VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants
Determining the pathogenicity and functional impact (ie gain-of-function; GOF or loss-of-
function; LOF) of a variant is vital for unraveling the genetic level mechanisms of human …
function; LOF) of a variant is vital for unraveling the genetic level mechanisms of human …