A5019316130- Genetic and Kidney Cyst Diseases
- Hedgehog Signaling Pathway Studies
- Fetal and Pediatric Neurological Disorders
- Microtubule and mitosis dynamics
- Genetic Syndromes and Imprinting
- Renal and related cancers
- Micro and Nano Robotics
- Medical Imaging and Pathology Studies
- Uterine Myomas and Treatments
- Retinal Development and Disorders
- Biomedical Text Mining and Ontologies
- Genetics, Bioinformatics, and Biomedical Research
- Endometriosis Research and Treatment
- Mechanisms of cancer metastasis
- Glycosylation and Glycoproteins Research
- Reproductive Biology and Fertility
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Heavy Metal Exposure and Toxicity
- Animal Genetics and Reproduction
- Pediatric Hepatobiliary Diseases and Treatments
- Protist diversity and phylogeny
- Protein Degradation and Inhibitors
- Selenium in Biological Systems
- Advanced Thermodynamics and Statistical Mechanics
National Health and Family Planning Commission
2023
Tianjin Municipal Research Institute for Family Planning
2016-2020
Chinese National Human Genome Center
2019-2020
Tsinghua University
2009-2012
Cilia and flagella are dynamic organelles that assembled disassembled during cell differentiation, stress, the cycle. Although intraflagellar transport (IFT) is well documented to be responsible for of ciliary/flagellar precursors from body flagella, little known about molecular mechanisms mobilizing body-localized make them available organelle assembly or disassembling microtubule-based axoneme shortening. Here, we show Chlamydomonas kinesin-13 (CrKinesin-13), a member family microtubule...
Does a novel homozygous NOBOX truncating variant, identified in whole exome sequencing (WES) of patients with primary ovarian insufficiency (POI), cause defective transcriptional activation multiple oocyte-related genes?A mutation was confirmed to exhibit loss-of-function effect using well-defined molecular and functional analyses.Several mutations have been reported be associated POI but all them are heterozygous mutations.This is cross sectional study 96 diagnosed 211 women not China.Blood...
Abstract Joubert syndrome (JBTS) is a systematic developmental disorder mainly characterized by pathognomonic mid‐hindbrain malformation. All known JBTS‐associated genes encode proteins involved in the function of antenna‐like cellular organelle, primary cilium, which plays essential roles signal transduction and development. Here, we identified four unreported variants ARL13B two patients with classical features JBTS. member Ras GTPase family functions ciliogenesis cilia‐related signaling....
Chlamydomonas reinhardtii is widely used for studying cilia/flagella, organelles important human health and disease. In situ monitoring of flagellar assembly/disassembly kinetics in single living cells has been difficult with conventional methods because time-consuming media exchange the requirement whole cell fixation. Here, we develop a PDMS/glass hybrid microfluidic device real-time tracking length Chlamydomonas. Media precisely controlled by sequential gas–liquid plugs complete medium...
Abstract Background Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for subtypes. Case presentation A two-year-old boy was diagnosed global development delay molar tooth sign of mid-brain. Whole exome performed to detect the causative in this individual, candidate pathogenic were verified Sanger sequencing. We two (NM_006346.2: c.1147delC c.1054A > G) PIBF1...
KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation and hedgehog signaling humans. Variants KIAA0586 could cause some different ciliopathies, including Joubert syndrome (JBTS), which is a clinically genetically heterogeneous group of autosomal recessive neurological disorders. A 9-month-old girl was diagnosed JBTS by the "molar tooth sign" mid-brain global developmental delay. By whole-exome sequencing, we identified single nucleotide variant c.3303G > 1.38-kb...
Abstract Background Joubert syndrome (JS, OMIM: 213300) is a recessive developmental disorder characterized by cerebellar vermis hypoplasia and distinctive mid‐hindbrain malformation called the “molar tooth sign” on axial magnetic resonance imaging. To date, more than 35 ciliary genes have been identified as causative of JS. Methods Whole exome sequencing was performed to detect gene mutations in Chinese patient with JS followed Sanger sequencing. RT‐PCR were used confirm abnormal transcript...
Abstract Background Joubert syndrome (JBTS) is a rare genetic disorder that characterized by midbrain‐hindbrain malformations. Multiple variants in genes affect ciliary function contribute to the and clinical heterogeneity of JBTS its subtypes. However, correlation between genotype phenotype has not been elucidated due limited number patients available. Methods In this study, we observed different features two siblings from same family. The older sibling was classified as pure patient,...
Joubert syndrome (JBTS) and Meckel-Gruber (MKS) are rare recessive disorders caused by defects of cilia, they share overlapping clinical features allelic loci. Mutations MKS1 contribute approximately 7% to all MKS cases found in some JBTS patients. Here, we describe a patient with two novel mutations MKS1. Whole exome sequencing (WES) revealed c.191-1G > A c.1058delG compound heterozygous variants. The presented typical cerebellar vermis hypoplasia, hypotonia, developmental delay, but...
Abstract Background: KIAA0586 , also known as Talplid3 plays critical roles in primary cilia formation and hedgehog signaling humans. Variants could cause some different ciliopathies, including Joubert syndrome (JBTS), which is a clinically genetically heterogeneous group of autosomal recessive neurological disorders. Methods Results: A 9-month-old girl was diagnosed JBTS by the “molar tooth sign” mid-brain global developmental delay. By whole-exome sequencing, we identified single...