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BRCA1 and friends 30 years on
With the benefit of hindsight, recognition of the cancer susceptibility gene BRCA1 and its later cloning were defining mom...
DNA packaging by molecular motors: from bacteriophage to human chromosomes
DNA packaging by molecular motors: from bacteriophage to human chromosomes
Dense packaging of genomic DNA is crucial for organismal survival, as DNA length always far exceeds the dimensions of the ...
How germ granules promote germ cell fate
How germ granules promote germ cell fate
Germ cells are the only cells in the body capable of giving rise to a new organism, and this totipotency hinges on their a...
Tandem repeats in the long-read sequencing era
Tandem repeats are ubiquitous in the human genome and hold crucial information about our genetic diversity, evolution and ...
Endometriosis is a disease of immune dysfunction, which could be linked to microbiota
Endometriosis is a disease of immune dysfunction, which could be linked to microbiota
Background: Endometriosis, characterized by extrauterine endometrial tissue, leads to irregular bleeding and pelvic pain. ...
DeepSplice: a deep learning approach for accurate prediction of alternative splicing events in the human genome
DeepSplice: a deep learning approach for accurate prediction of alternative splicing events in the human genome
Alternative splicing (AS) is a crucial process in genetic information processing that generates multiple mRNA molecules fr...
Leveraging genetics to investigate causal effects of immune cell phenotypes in periodontitis: a mendelian randomization study
Leveraging genetics to investigate causal effects of immune cell phenotypes in periodontitis: a mendelian randomization study
IntroductionImmune cells are dynamic in the inflammatory environment and play a key role in eradicating periodontal pathog...
A novel variation in DEPDC5 causing familial focal epilepsy with variable foci
A novel variation in DEPDC5 causing familial focal epilepsy with variable foci
BackgroundDisheveled, EGL-10, and pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a component of GTPase-activatin...
Phylogenomic analysis and molecular identification of true fruit flies
Phylogenomic analysis and molecular identification of true fruit flies
The family Tephritidae in the order Diptera, known as true fruit flies, are agriculturally important insect pests. However...
Robust evidence supports a causal link between higher birthweight and longer telomere length: a mendelian randomization study
Robust evidence supports a causal link between higher birthweight and longer telomere length: a mendelian randomization study
BackgroundObservational studies have suggested a potential relationship between birthweight and telomere length. However, ...
Integrative analysis of cancer multimodality data identifying COPS5 as a novel biomarker of diffuse large B-cell lymphoma
Integrative analysis of cancer multimodality data identifying COPS5 as a novel biomarker of diffuse large B-cell lymphoma
Preventing, diagnosing, and treating diseases requires accurate clinical biomarkers, which remains challenging. Recently, ...
Effects of Chronic Social Stress on the Expression of Neurotransmitter System–Associated Genes in the Hypothalamus of Male Mice
Effects of Chronic Social Stress on the Expression of Neurotransmitter System–Associated Genes in the Hypothalamus of Male Mice
Chronic social stress caused by repeated negative experiences in agonistic interactions induces depressive-like behavior i...
Systematic reanalysis of copy number losses of uncertain clinical significance
Systematic reanalysis of copy number losses of uncertain clinical significance
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Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation
Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation
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Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort
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Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service
Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service
IntroductionWithin the English National Health Service (NHS), all people with motor neuron disease (pwMND) are eligible fo...
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
WHAT IS ALREADY KNOWN ON THIS TOPICHOW THIS STUDY MIGHT AFFECT RESEARCH, PRACTICE OR POLICYThe ZFHX3 gene is a novel patho...
NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
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