A5068047639- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- Pancreatic function and diabetes
- Genetics and Neurodevelopmental Disorders
- Wheat and Barley Genetics and Pathology
- RNA modifications and cancer
- Genetic Syndromes and Imprinting
- Molecular Biology Techniques and Applications
- Metabolism and Genetic Disorders
- Mesenchymal stem cell research
- RNA Research and Splicing
- Sexual Differentiation and Disorders
- Mitochondrial Function and Pathology
- Genetic factors in colorectal cancer
- Epigenetics and DNA Methylation
- Growth Hormone and Insulin-like Growth Factors
- Thyroid Disorders and Treatments
- Glycogen Storage Diseases and Myoclonus
- Diabetes and associated disorders
- Neurogenetic and Muscular Disorders Research
- Chromosomal and Genetic Variations
- Prenatal Screening and Diagnostics
- Diabetes Management and Research
Shanxi Agricultural University
2020-2025
Qilu Hospital of Shandong University
2008-2025
Jinan University
2025
Tianjin University
2025
First Affiliated Hospital of Heilongjiang University of Chinese Medicine
2025
XinHua Hospital
2015-2024
Shanghai Jiao Tong University
2014-2024
The People's Hospital of Guangxi Zhuang Autonomous Region
2024
Chengdu University
2024
Shanghai Academy of Social Sciences
2024
Bckground Stem cells, which have the ability to differentiate into insulin-producing cells (IPCs), would provide a potentially unlimited source of islet for transplantation and alleviate major limitations availability allogeneic rejection. Therefore, utilization stem is becoming most promising therapy diabetes mellitus (DM). Here, we studied differentiation capacity diabetic patient's bone marrow-derived mesenchymal (MSCs) tested feasibility using MSCs β-cell replacement. Methods Bone were...
Abstract The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger BTB domain containing 24. Here we report cell division cycle associated 7 helicase, lymphoid-specific 10 unexplained cases. Our data highlight genetic heterogeneity syndrome; however, they provide...
Although the benefits of next-generation sequencing (NGS) for diagnosis heterogeneous diseases such as intellectual disability (ID) are undisputed, there is little consensus on relative merits targeted enrichment, whole-exome (WES) or whole-genome (WGS). To answer this question, WES and WGS data from same nine samples were compared, was shown not to miss any variants identified by in a gene panel including ∼500 genes linked ID (500GP). Additionally, deeply sequenced adequately cover ∼99%...
Since its outbreak in December 2019, a series of clinical trials on coronavirus disease 2019 (COVID-19) have been registered or carried out. However, the significant heterogeneity and less critical outcomes such may be leading to waste research resources. This study aimed develop core outcome set (COS) for COVID-19 order tackle issues. The was conducted according Core Outcome Measures Effectiveness Trials (COMET) Handbook: Version 1.0, guideline COS development. A group up that included...
Ig superfamily member 1 (IGSF1) deficiency was recently discovered as a novel X-linked cause of central hypothyroidism (CeH) and macro-orchidism. However, clinical biochemical data regarding growth, puberty, metabolic outcome, well features female carriers, are scarce. Our objective to investigate characteristics associated with IGSF1 in both sexes. All patients (n = 42, 24 males) from 10 families examined the university clinics Leiden, Amsterdam, Cambridge, Milan were included this case...
Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained. We identified a missense mutation the transducin β-like protein 1, X-linked (TBL1X) gene three relatives diagnosed with isolated CeH. TBL1X is part of thyroid hormone receptor-corepressor complex. The objectives study were identification patients unexplained CeH, Sanger sequencing affected individuals, clinical biochemical characterization; vitro...
Spinocerebellar ataxias are phenotypically, neuropathologically, and genetically heterogeneous. The locus of autosomal recessive spinocerebellar ataxia type 7 (SCAR7) was previously linked to chromosome band 11p15. We have identified TPP1 as the causative gene for SCAR7 by exome sequencing. A missense a splice site variant in TPP1, cosegregating with disease, were found described family also another patient phenotype. encoding tripeptidyl-peptidase 1 enzyme, is known late infantile neuronal...
In 2016, we described that missense variants in parts of exons 30 and 31 CREBBP can cause a phenotype differs from Rubinstein-Taybi syndrome (RSTS). Here report on another 11 patients with this region (between bp 5,128 5,614) two the homologous EP300. None show characteristics typical for RSTS. The were detected by exome sequencing using panel intellectual disability all but one individual, whom Sanger was performed upon clinical recognition entity. main are developmental delay (90%),...
Studies have shown a correlation between obesity and mitochondrial calcium homeostasis, yet it is unclear whether how Mcu regulates adipocyte lipid deposition. This study aims to provide new potential target for the treatment of related metabolic diseases, explore function in adipose tissue.
The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and frequent cause of early death in childhood, is caused 96% patients by homozygous absence the survival motor neuron gene (SMN1). severity mainly determined copy number SMN2, which predominantly produces exon 7-skipped transcripts only low amount full-length that encode for protein identical to SMN1. Only about 4% SMA bear one SMN1 with an intragenic mutation. A comprehensive molecular genetic analysis 34 who...
Abstract Disorders of sexual development (DSD) are estimated to occur in 1 4500 births. Since the genetic etiology DSD is highly heterogeneous, obtaining a definitive molecular diagnosis by single gene test challenging. Utilizing high-throughput sequencing upfront proposed as an efficient approach aid diagnosis. This study aimed examine diagnostic yield next-generation DSD. 32 patients that previously received clinical examinations and tests were selected, with or without Prior masked, then...
Abstract STUDY QUESTION Is the sperm acrosome membrane-associated protein 1 (SPACA1) gene critical to human globozoospermia? SUMMARY ANSWER The biallelic loss-of-function (variant of SPACA1) causes globozoospermia as a result acrosome–acroplaxome complex damage. WHAT IS KNOWN ALREADY SPACA1 expression decreases in patients with globozoospermia. Spaca1 gene-disrupted mice have abnormally shaped heads that resemble those DESIGN, SIZE, DURATION We recruited consanguineous family two brothers...
Genome sequencing (GS) has been used in the diagnosis of global developmental delay (GDD)/intellectual disability (ID). However, performance GS patients with inconclusive results from chromosomal microarray analysis (CMA) and exome (ES) is unknown. We recruited 100 pediatric GDD/ID multiple sites China February 2018 to August 2020 for GS. Patients have received at least one genomic diagnostic test before enrollment. Reanalysis their CMA/ES data was performed. The yield calculated...
The diagnosis of intellectual disability/developmental delay (ID/DD) benefits from the clinical application target/exome sequencing. yield in Mendelian diseases varies 25% to 68%. aim present study was identify genetic causes 33 ID/DD patients using Recent studies have demonstrated that reanalyzing undiagnosed exomes could additional diagnosis. Therefore, addition normal data analysis, this study, re‐evaluation performed prior manuscript preparation after updating OMIM annotations, calling...
Autism spectrum disorder (ASD) is a group of clinically and genetically heterogeneous neurodevelopmental disorders. Recent tremendous advances in the whole exome sequencing (WES) enable rapid identification variants associated with ASD including single nucleotide variations (SNVs) indels. To further explore genetic etiology Chinese children negative findings copy number (CNVs), we applied WES 80 simplex families affected offspring or suspected ASD, validated predicted to be damaging by...