Xiuzhi Ren
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View article: The Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta
The Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta Open
Background: Osteogenesis imperfecta (OI) is marked by clinical and genetic heterogeneity, and the genotype–phenotype correlation remains not very clear. We conducted a clinical and genetic study in a Chinese OI cohort to determine the spec…
View article: Incidence and prevalence of 121 rare diseases in China: Current status and challenges: 2022 revision
Incidence and prevalence of 121 rare diseases in China: Current status and challenges: 2022 revision Open
The current study updated data on the incidence and prevalence of 121 rare diseases listed in China's First List of Rare Diseases to provide rationales and references for the development and promotion of rare-disease-related policies. The …
View article: Current diagnosis and management of rare pediatric diseases in China
Current diagnosis and management of rare pediatric diseases in China Open
This review categorizes and summarizes the rare pediatric diseases that have been included in the First List of Rare Diseases that was jointly published by the National Health Commission and four other government departments in China in 20…
View article: CRISPR/Cas9 correction of a dominant cis-double-variant in COL1A1 isolated from a patient with osteogenesis imperfecta increases the osteogenic capacity of induced pluripotent stem cells
CRISPR/Cas9 correction of a dominant cis-double-variant in COL1A1 isolated from a patient with osteogenesis imperfecta increases the osteogenic capacity of induced pluripotent stem cells Open
Osteogenesis imperfecta (OI) is a hereditary skeletal disorder that is mainly caused by variants in COL1A1/2. So far, no specific treatment has been developed to correct its underlying etiology. We aimed to gain a better understanding of t…
View article: Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta Open
Osteogenesis imperfecta (OI) is a rare heritable skeletal disorder which is mainly caused by defected type I collagen. Autosomal recessive OI (AR-OI) is caused by mutations of genes that are responsible for type I collagen modification and…
View article: Comprehensive bioinformatic analysis of Wnt1 and Wnt1-associated diseases
Comprehensive bioinformatic analysis of Wnt1 and Wnt1-associated diseases Open
Wnt1 is the first member of the Wnt family that was identified. It is phylogenetically conserved and essential for oncogenesis and multiple developmental processes. This study has summarized diseases and mutations related to Wnt1. Wnt1 is …
View article: Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta
Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta Open
Osteogenesis Imperfecta (OI) is a rare inherited bone dysplasia, which is mainly caused by mutations in genes encoding type I collagen including COL1A1 and COL1A2. It has been well established to identify the classical variants as well as …
View article: Splice receptor-site mutation c.697-2A>G of the <i>COL1A1</i> gene in a Chinese family with osteogenesis imperfecta
Splice receptor-site mutation c.697-2A>G of the <i>COL1A1</i> gene in a Chinese family with osteogenesis imperfecta Open
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and blue sclerae, which are mainly caused by a mutation of the COL1A1 or COL1A2 genes that encode type I procollagen. Mutations in the splice site of type I…
View article: Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen
Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen Open
Type I collagen is an important structural protein of bone, skin, tendon, ligament and other connective tissues. It is initially synthesized as a precursor form, procollagen, consisting of two identical pro-α1(I) and one proα2(I) chains, e…
View article: Wnt Signaling Associated Human Diseases
Wnt Signaling Associated Human Diseases Open
Wnt Signaling PathwaysWnt are secreted lipid-modified glycoproteins including 19 family members that transduces signal through one more of different signaling pathways.Wnt ligand binds to serial Frizzled (Fzd) receptor and LRP5/6 co-recept…
View article: The impact of the intestinal microbiome on bone health
The impact of the intestinal microbiome on bone health Open
Intestinal microbial flora, known as the second gene pool of the human body, play an important role in immune function, nutrient uptake, and various activities of host cells, as well as in human disease. Intestinal microorganisms are invol…
View article: Complex heterozygous <i>WNT1</i> mutation in severe recessive osteogenesis imperfecta of a Chinese patient
Complex heterozygous <i>WNT1</i> mutation in severe recessive osteogenesis imperfecta of a Chinese patient Open
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder with a predominately autosomal-dominant inheritance pattern. Recessive forms of OI are rare and involve many different causative genes. WNT1 mutations were found to cau…
View article: Circular RNAs and hereditary bone diseases
Circular RNAs and hereditary bone diseases Open
Circular RNA (circRNA) is a non-linear form of RNA derived from exonic, intronic, and exon-intron gene regions. circRNAs are characterized by covalent closed loops, highly stable nuclease resistance, and specific expression in species and …
View article: Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man
Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man Open
Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-o…