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Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis
BACKGROUND mRNA splicing is a fundamental process in the reproductive system,
playing a pivotal role in reproductive development and endocrine function, and ensuring the …
playing a pivotal role in reproductive development and endocrine function, and ensuring the …
Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders
Purpose Over 30 research groups and companies are exploring newborn screening using
genomic sequencing (NBSeq), but the sensitivity of this approach is not well understood …
genomic sequencing (NBSeq), but the sensitivity of this approach is not well understood …
Linkage equilibrium between rare mutations
Recombination breaks down genetic linkage by reshuffling existing variants onto new
genetic backgrounds. These dynamics are traditionally quantified by examining the …
genetic backgrounds. These dynamics are traditionally quantified by examining the …
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome
FAM111A (family with sequence similarity 111 member A) is a serine protease and removes
covalent DNA-protein cross-links during DNA replication. Heterozygous gain-of-function …
covalent DNA-protein cross-links during DNA replication. Heterozygous gain-of-function …
Germline variants of homology‐directed repair or mismatch repair genes in cervical cancer
While cervical cancer is associated with a persistent human papillomavirus (HPV) infection,
the progression to cancer is influenced by genomic risk factors that have remained largely …
the progression to cancer is influenced by genomic risk factors that have remained largely …
The spectrum of gene intolerance to variation: Insights from a rare disease cohort
Deciphering the spectrum of intolerance to loss-of-function (LoF) variation helps identify
genes that are critical at various stages of development and hierarchical levels of …
genes that are critical at various stages of development and hierarchical levels of …
Missing genetic diversity impacts variant prioritisation for rare disorders
Whole genome sequencing identifies millions of genetic variants per individual. When
applied to rare disease diagnosis, potentially pathogenic variants are prioritised for clinical …
applied to rare disease diagnosis, potentially pathogenic variants are prioritised for clinical …
The distribution of highly deleterious variants across human ancestry groups
A major focus of human genetics is to map severe disease mutations. Increasingly that goal
is understood as requiring huge numbers of people to be sequenced from every broadly …
is understood as requiring huge numbers of people to be sequenced from every broadly …
IL-9 as a naturally orthogonal cytokine with optimal JAK/STAT signaling for engineered T cell therapy
Arming T cells with a synthetically orthogonal IL-9 receptor (o9R) permits facile engraftment
and potent anti-tumor functions. We considered whether the paucity of natural IL-9R …
and potent anti-tumor functions. We considered whether the paucity of natural IL-9R …
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy
MR Murphy, M Ganapathi, TM Lee, JM Fisher, MV Patel… - bioRxiv, 2025 - biorxiv.org
The heart employs a specialized ribosome in its muscle cells to translate genetic information
into proteins, a fundamental adaptation with an elusive physiological role. Its significance is …
into proteins, a fundamental adaptation with an elusive physiological role. Its significance is …