Kuokuo Li
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View article: Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility
Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility Open
Canonical splicing variants (±2) contribute significantly to genetic disorders, yet the clinical significance of non‐canonical splicing variants (NCSVs) that occur outside of canonical splicing sites remains unknown in male infertility. A …
View article: Gene4Denovo2: an updated platform for human <i>de novo</i> mutations discovery and interpretation
Gene4Denovo2: an updated platform for human <i>de novo</i> mutations discovery and interpretation Open
De novo mutations (DNMs) drive evolution and increase biodiversity, yet concurrently act as a cryptic cause of numerous genetic diseases. Here, we present Gene4Denovo2 (https://genemed.tech/gene4denovo2/), an updated version of the Gene4De…
View article: Cognition of the association between sexual dysfunction and fertility
Cognition of the association between sexual dysfunction and fertility Open
Background While research has shown that sexual dysfunction does not impact fertility, public understanding of this relationship remains unclear. Aim To investigate the relationship between public cognition of the association between sexua…
View article: Quantum tomography of a third-order exceptional point in a dissipative trapped ion
Quantum tomography of a third-order exceptional point in a dissipative trapped ion Open
View article: MCM9 deficiency impairs DNA damage repair during spermatogenesis, leading to Sertoli cell-only syndrome in humans
MCM9 deficiency impairs DNA damage repair during spermatogenesis, leading to Sertoli cell-only syndrome in humans Open
View article: Broadening the ARMC2 mutational phenotype: linking multiple morphological abnormalities of the Flagella to Pulmonary Manifestations in Primary Ciliary Dyskinesia
Broadening the ARMC2 mutational phenotype: linking multiple morphological abnormalities of the Flagella to Pulmonary Manifestations in Primary Ciliary Dyskinesia Open
Overall, this study significantly expanded the mutational phenotype of ARMC2, marking the first discovery of PCD-related pulmonary phenotypes outside of the reproductive system. This work establishes the association between ARMC2 and typic…
View article: Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant
Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant Open
Our study first identified the same AR variant (c.2263T > C;p.Phe755Leu) in four affected patients displaying highly diverse phenotypes of AIS and fertility outcomes, thereby significantly expanding the phenotypic spectrum of AIS. Notably,…
View article: Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility
Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility Open
In this study, we identified seven novel variants in the DNAH11 gene in four asthenoteratozoospermia subjects. These variants led the absence of DNAH11 proteins and ultrastructure defects in sperm flagella, particularly affecting the outer…
View article: Differential methylation patterns in paternally imprinted gene promoter regions in sperm from hepatitis B virus infected individuals
Differential methylation patterns in paternally imprinted gene promoter regions in sperm from hepatitis B virus infected individuals Open
This is the first study to explore the effects of HBV infection on sperm DNA methylation and the potential underlying mechanisms of intergenerational influence of paternal HBV infection.
View article: Further evidence from DNAH12 supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants
Further evidence from DNAH12 supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants Open
Male infertility is a major concern affecting reproductive health. Biallelic deleterious variants of most DNAH gene family members have been linked to male infertility, with intracytoplasmic sperm injection (ICSI) being an efficacious way …
View article: Achieving an optimal pregnancy outcome through the combined utilization of micro-TESE and ICSI in cryptorchidism associated with a non-canonical splicing variant in RXFP2
Achieving an optimal pregnancy outcome through the combined utilization of micro-TESE and ICSI in cryptorchidism associated with a non-canonical splicing variant in RXFP2 Open
View article: Association of novel DNAH11 and DNAH 5 variants with oligoasthenoteratozoospermia lead to male infertility
Association of novel DNAH11 and DNAH 5 variants with oligoasthenoteratozoospermia lead to male infertility Open
Background Bi-allelic variants in DNAH11 and DNAH5 have been identified as causative factors in Primary Ciliary Dyskinesia, leading to abnormal respiratory cilia. Nonetheless, the specific impact of these variants on sperm flagellar and th…
View article: Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders Open
The present study was funded by grants from the National Natural Science Foundation of China, China Postdoctoral Science Foundation, the Hunan Youth Science and Technology Innovation Talent Project, the Provincial Natural Science Foundatio…
View article: Association between <i>de novo</i> variants of nuclear-encoded mitochondrial-related genes and undiagnosed developmental disorder and autism
Association between <i>de novo</i> variants of nuclear-encoded mitochondrial-related genes and undiagnosed developmental disorder and autism Open
Summary Background Evidence suggests that mitochondrial abnormalities increase the risk of two neurodevelopmental disorders: undiagnosed developmental disorder (UDD) and autism spectrum disorder (ASD). However, which nuclear-encoded mitoch…
View article: Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes
Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes Open
Variations in the dynein axonemal heavy chain gene, dynein axonemal heavy chain 6 ( DNAH6 ), lead to multiple morphological abnormalities of the flagella. Recent studies have reported that these deficiencies may result in sperm head deform…
View article: Erratum for Wang et al., “A Nanobody Targeting Viral Nonstructural Protein 9 Inhibits Porcine Reproductive and Respiratory Syndrome Virus Replication”
Erratum for Wang et al., “A Nanobody Targeting Viral Nonstructural Protein 9 Inhibits Porcine Reproductive and Respiratory Syndrome Virus Replication” Open
View article: Hsp90 is a potential risk factor for ovarian cancer prognosis: an evidence of a Chinese clinical center
Hsp90 is a potential risk factor for ovarian cancer prognosis: an evidence of a Chinese clinical center Open
Background The potential treatment effects of heat shock protein 90 (Hsp90) inhibitors in ovarian cancer (OC) are controversial. This research aims to investigate the relationship between the level of Hsp90 in peripheral blood and the prog…
View article: Effects of Previous COVID-19 Infection Experience on Sexual and Reproductive Health in the Chinese Population: An Online Cross-Sectional Survey Study (Preprint)
Effects of Previous COVID-19 Infection Experience on Sexual and Reproductive Health in the Chinese Population: An Online Cross-Sectional Survey Study (Preprint) Open
BACKGROUND Coronavirus disease 2019 (COVID-19) has been now better understood, and multiple complications resulting from COVID-19 infection were confirmed. However, clinic evidence for post-COVID-19 sequelae is still lacking, including se…
View article: Novel deleterious splicing variant in HFM1 causes gametogenesis defect and recurrent implantation failure: concerning the risk of chromosomal abnormalities in embryos
Novel deleterious splicing variant in HFM1 causes gametogenesis defect and recurrent implantation failure: concerning the risk of chromosomal abnormalities in embryos Open
View article: A Polysaccharide-RBD-Fc-Conjugated COVID-19 Vaccine, SCTV01A, Showed High Immunogenicity and Low Toxicity in Animal Models
A Polysaccharide-RBD-Fc-Conjugated COVID-19 Vaccine, SCTV01A, Showed High Immunogenicity and Low Toxicity in Animal Models Open
We previously developed a polysaccharide-–RBD-conjugated nanoparticle vaccine which induced protective efficacy against SARS-CoV-2 in a mouse model. Here, we newly developed a vaccine, SCTV01A, by chemically conjugating recombinant SARS-Co…
View article: DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath
DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath Open
View article: Novel HYDIN variants associated with male infertility in two Chinese families
Novel HYDIN variants associated with male infertility in two Chinese families Open
Introduction Infertility is a major disease affecting human life and health, among which male factors account for about half. Asthenoteratozoospermia accounts for the majority of male infertility. High-throughput sequencing techniques have…
View article: Novel <i>FSIP2</i> Variants Induce Super-Length Mitochondrial Sheath and Asthenoteratozoospermia in Humans
Novel <i>FSIP2</i> Variants Induce Super-Length Mitochondrial Sheath and Asthenoteratozoospermia in Humans Open
Asthenoteratozoospermia is one of the major factors for male infertility, whereas the causes of large numbers of cases are still unknown. We identified compound heterozygous variants of FSIP2 in three unrelated individuals from a co…
View article: HSP90 is a potential risk factor for ovarian cancer prognosis: an evidence of a Chinese clinical center
HSP90 is a potential risk factor for ovarian cancer prognosis: an evidence of a Chinese clinical center Open
Background : The potential treatment effects of heat shock protein90 (HSP90) inhibitors in ovarian cancer (OC) are controversial. This research aims to investigate the relationship between the expression level of HSP90 in peripheral blood …
View article: Performance evaluation of differential splicing analysis methods and splicing analytics platform construction
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction Open
A proportion of previously defined benign variants or variants of uncertain significance in humans, which are challenging to identify, may induce an abnormal splicing process. An increasing number of methods have been developed to predict …
View article: Correction: Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia
Correction: Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia Open
View article: Altered mRNAs Profiles in the Testis of Patients With “Secondary Idiopathic Non-Obstructive Azoospermia”
Altered mRNAs Profiles in the Testis of Patients With “Secondary Idiopathic Non-Obstructive Azoospermia” Open
Background: Non-obstructive azoospermia (NOA) is the most severe form of male infertility. Currently, known causative factors, including congenital and several acquired causes only account for approximately 30% of NOA cases. The causes for…
View article: A Bivalent COVID-19 Vaccine Based on Alpha and Beta Variants Elicits Potent and Broad Immune Responses in Mice against SARS-CoV-2 Variants
A Bivalent COVID-19 Vaccine Based on Alpha and Beta Variants Elicits Potent and Broad Immune Responses in Mice against SARS-CoV-2 Variants Open
With the emergence and rapid spread of new pandemic variants, especially variants of concern (VOCs), the development of next-generation vaccines with broad-spectrum neutralizing activities is of great importance. In this study, SCTV01C, a …
View article: Correction to: Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF
Correction to: Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF Open
View article: Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia
Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia Open