Xiu‐Feng Huang
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View article: Expanding the <i>COL4A4</i> variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification
Expanding the <i>COL4A4</i> variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification Open
Conclusion: This is the first study to apply the new classification of Alport kidney disease to Chinese pediatric patients with COL4A4 variants, substantially expanding the spectrum of COL4A4 variants and providing new…
View article: Investigating the Shared Genetic Architecture of 3 Age-Related Ocular Disorders
Investigating the Shared Genetic Architecture of 3 Age-Related Ocular Disorders Open
View article: Effectiveness of whole course fine nursing combined with insulin pump blood glucose management on patients with diabetes mellitus combined with ischemic cerebral infarction
Effectiveness of whole course fine nursing combined with insulin pump blood glucose management on patients with diabetes mellitus combined with ischemic cerebral infarction Open
Whole course fine nursing combined with insulin pump glucose management can enhance the glucose control effect, and improve the neurological and motor functions, self-care ability, health behaviors and quality of life in patients with DM p…
View article: Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel <i>CLCN5</i> and <i>OCRL</i> variants
Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel <i>CLCN5</i> and <i>OCRL</i> variants Open
This study provides insight into the clinical and genetic profiles of DD patients. Notably, integrating genetic analysis with the detection of markedly elevated levels of LMWP, particularly α1-microglobulin,can substantially reduce the mis…
View article: Integration and functionality of human iPSC-derived microglia in a chimeric mouse retinal model
Integration and functionality of human iPSC-derived microglia in a chimeric mouse retinal model Open
View article: Identification of mutations associated with congenital cataracts in nineteen Chinese families
Identification of mutations associated with congenital cataracts in nineteen Chinese families Open
View article: Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome
Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome Open
This study identified a novel NHS pathogenic variant in a Chinese family, expanding the mutational spectrum of NHS. Contrary to previous reports of female carriers exhibiting mild symptoms, we demonstrated severe ocular phenotypes in three…
View article: An integrated multi-omics analysis identifies protein biomarkers and potential drug targets for psoriatic arthritis
An integrated multi-omics analysis identifies protein biomarkers and potential drug targets for psoriatic arthritis Open
View article: Correlation between diabetic retinopathy and bone mineral density and bone metabolism indexes：a case-control study
Correlation between diabetic retinopathy and bone mineral density and bone metabolism indexes：a case-control study Open
Objective The objective of this research is to examine the correlation between diabetic retinopathy and bone mineral density(BMD), as well as bone metabolism indicators, through clinical research and bioinformatics analysis. Methods ① 64 p…
View article: Retinal Organoid Microenvironment Enhanced Bioactivities of Microglia-Like Cells Derived From HiPSCs
Retinal Organoid Microenvironment Enhanced Bioactivities of Microglia-Like Cells Derived From HiPSCs Open
These findings contribute to advancing our understanding of human microglial biology, specifically in characterizing and elucidating the functions of CC-iMG, thereby offering an in vitro microglial model for future scientific research and …
View article: Slc4a7 Regulates Retina Development in Zebrafish
Slc4a7 Regulates Retina Development in Zebrafish Open
Inherited retinal degenerations (IRDs) are a group of genetic disorders characterized by the progressive degeneration of retinal cells, leading to irreversible vision loss. SLC4A7 has emerged as a candidate gene associated with IRDs, yet i…
View article: Editorial: Spondyloarthritis and omics
Editorial: Spondyloarthritis and omics Open
Citation: Huang X-F and Li Z (2024) Editorial: Spondyloarthritis and omics. Front. Immunol. 15:1475294. doi: 10.3389/fimmu.2024.1475294
View article: Associations between 25 hydroxyvitamin D concentration and spontaneous abortion
Associations between 25 hydroxyvitamin D concentration and spontaneous abortion Open
View article: The cochlear morphology alteration and hearing loss in Cep250 knockout mice
The cochlear morphology alteration and hearing loss in Cep250 knockout mice Open
Background: Usher syndrome is a genetic disorder characterized by sensorineural hearing loss, progressive vision loss, and in some cases, vestibular dysfunction. It is the most common cause of combined deafness and blindness. Cep250 is a c…
View article: Proteomic analysis reveals potential therapeutic targets for childhood asthma through Mendelian randomization
Proteomic analysis reveals potential therapeutic targets for childhood asthma through Mendelian randomization Open
Background Asthma is the most common chronic disease among children and poses a significant threat to their health. This study aims to assess the relationship between various plasma proteins and childhood asthma, thereby identifying potent…
View article: Trio-based whole-exome sequencing reveals mutations in early-onset high myopia
Trio-based whole-exome sequencing reveals mutations in early-onset high myopia Open
Purpose Myopia, especially high myopia (HM), represents a widespread visual impairment with a globally escalating prevalence. This study aimed to elucidate the genetic foundations associated with early-onset HM (eoHM) while delineating the…
View article: Identification of 4 Novel Variants in 19 Families with Congenital Cataracts
Identification of 4 Novel Variants in 19 Families with Congenital Cataracts Open
Background Congenital cataracts (CC) are one of the leading causes of impaired vision or blindness in children, of which approximately 8.3–25% are inherited. More than 100 cataract-related genes have been identified globally. Purpose To id…
View article: Global Trends in Depressive Disorder Prevalence and&nbsp;DALYs Among Young Populations: A Comprehensive Analysis from 1990 to 2021
Global Trends in Depressive Disorder Prevalence and DALYs Among Young Populations: A Comprehensive Analysis from 1990 to 2021 Open
View article: Clinical and Genetic Spectrum of Nine Cases of NLRP3‐Associated Autoinflammatory Disease (NLRP3‐AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses
Clinical and Genetic Spectrum of Nine Cases of NLRP3‐Associated Autoinflammatory Disease (NLRP3‐AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses Open
Purpose . NLRP3‐associated autoinflammatory disease (NLRP3‐AID) is characterized by gain‐of‐function variants in the NLRP3 gene. Since there are little literature focusing on pediatric NLRP3‐AID in China, we aimed to elucidate the phenotyp…
View article: Advances in the study of Müller glia reprogramming in mammals
Advances in the study of Müller glia reprogramming in mammals Open
Müller cells play an integral role in the development, maintenance, and photopic signal transmission of the retina. While lower vertebrate Müller cells can differentiate into various types of retinal neurons to support retinal repair follo…
View article: Proteome-wide analysis reveals potential therapeutic targets for Colorectal cancer: a two-sample mendelian randomization study
Proteome-wide analysis reveals potential therapeutic targets for Colorectal cancer: a two-sample mendelian randomization study Open
Background Colorectal cancer (CRC) is a leading cause of cancer-related mortality, highlighting an unmet clinical need for more effective therapies. This study aims to evaluate the causal relationship between 4,489 plasma proteins and CRC …
View article: Featured Cover
Featured Cover Open
The cover image is based on the Original Article Single‐cell RNA sequencing reveals new subtypes of lens superficial tissue in humans by Meng‐Chao Zhu et al., https://doi.org/10.1111/cpr.13477 . image
View article: Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in <i>Cep250</i> Knockout Mice
Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in <i>Cep250</i> Knockout Mice Open
Altogether, these results suggest that dysregulated arginine metabolism contributes to retinal degeneration in Cep250-/- mice. Our findings provide novel insights that increase understanding of retinal degeneration in ciliopathy disorders.
View article: Minimal effect of sleep on the risk of age-related macular degeneration: a Mendelian randomization study
Minimal effect of sleep on the risk of age-related macular degeneration: a Mendelian randomization study Open
Aims Observational studies have shown that sleep pattern is associated with age-related macular degeneration (AMD), but whether sleep pattern is a causal factor for AMD remains unclear. This study aims to use Mendelian randomization (MR) a…
View article: Causal effects of serum lipid biomarkers on early age-related macular degeneration using Mendelian randomization
Causal effects of serum lipid biomarkers on early age-related macular degeneration using Mendelian randomization Open
View article: Single‐cell <scp>RNA</scp> sequencing reveals new subtypes of lens superficial tissue in humans
Single‐cell <span>RNA</span> sequencing reveals new subtypes of lens superficial tissue in humans Open
Although the cell atlas of the human ocular anterior segment of the human eye was revealed by single‐nucleus RNA sequencing, whether subtypes of lens stem/progenitor cells exist among epithelial cells and the molecular characteristics of c…
View article: Causal Relationships Between Glycemic Traits and Myopia
Causal Relationships Between Glycemic Traits and Myopia Open
Genetic evidence shows that low adiponectin levels and high HbA1c are associated with an increased risk of myopia. Given that physical activity and sugar intake are controllable variables in blood glycemia treatment, these findings provide…
View article: Additional file 2 of Causal effects of serum lipid biomarkers on early age-related macular degeneration using Mendelian randomization
Additional file 2 of Causal effects of serum lipid biomarkers on early age-related macular degeneration using Mendelian randomization Open
Additional file 2: Tables S2 to S6.
View article: Additional file 1 of Causal effects of serum lipid biomarkers on early age-related macular degeneration using Mendelian randomization
Additional file 1 of Causal effects of serum lipid biomarkers on early age-related macular degeneration using Mendelian randomization Open
Additional file 1: Table S1. Reciprocal causation.
View article: Associations between 25 hydroxyvitamin D concentration and abortion: a retrospective study and a Mendelian randomization study
Associations between 25 hydroxyvitamin D concentration and abortion: a retrospective study and a Mendelian randomization study Open
Background: Abortion was defined as loss at a gestational age less than 28 weeks. Vitamin D is reported to be associated with reproductive functions, whereas its casual effects on abortion remains unclear. In this study, a two-sample Mende…