A5046407398- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- RNA and protein synthesis mechanisms
- RNA regulation and disease
- Total Knee Arthroplasty Outcomes
- RNA Research and Splicing
- Knee injuries and reconstruction techniques
- Neurological diseases and metabolism
- Orthopedic Surgery and Rehabilitation
- Genomics, phytochemicals, and oxidative stress
- Orthopaedic implants and arthroplasty
- Nerve injury and regeneration
- Ultrasound in Clinical Applications
- Intestinal Malrotation and Obstruction Disorders
- Acute Ischemic Stroke Management
- Glutathione Transferases and Polymorphisms
- Peripheral Nerve Disorders
- Elbow and Forearm Trauma Treatment
- Shoulder Injury and Treatment
- Mechanisms of cancer metastasis
- Medical Imaging Techniques and Applications
- Dental Implant Techniques and Outcomes
- Orthodontics and Dentofacial Orthopedics
- Genomics and Rare Diseases
University of Tübingen
2014-2024
Jilin University
2009-2022
First Hospital of Jilin University
2009-2022
Peking Union Medical College Hospital
2010-2014
Chinese Academy of Medical Sciences & Peking Union Medical College
2010-2014
First Bethune Hospital of Jilin University
2008-2012
Academy of Medical Sciences
2011
Xiaomi (China)
2003
Neurodevelopmental disorders are major indications for genetic referral and have been linked to more than 1500 loci including genes encoding transcriptional regulators. The dysfunction of transcription factors often results in characteristic syndromic presentations; however, at least half these patients lack a diagnosis. implementation machine learning approaches has the potential aid identification new disease delineate associated phenotypes. Next generation sequencing was performed seven...
Background: Dystonia is defined as the presence of sustained involuntary muscle contractions, often leading to abnormal posture and movement. DYT1 caused by a mutation in TOR1A gene, whilst mutations THAP1 gene have been identified responsible for DYT6. The relative frequency phenotype differences between DYT6 amongst Chinese primary dystonia patients not well-characterized. Patients methods: One hundred eleven unrelated with were screened genes, correlate this clinical presentation. Exon 5...
The purpose of the present study was to determine location mental foramen (MF) based on soft- and hard-tissue landmarks, facilitate prediction this structure during facial dental surgery. Forty-two hemispheres 21 adult cadavers (16 men 5 women; aged 30-75 years) were dissected expose MF. locations MFs evaluated with direct photographic measurements. Most presented a single (95%), except for only 2 cases double foramina (5%). localized 23.38 +/- 2.00 mm inferior 3.55 1.70 medial cheilion in...
ABSTRACT Background The ΔGAG deletion of the TOR1A gene (DYT1) is responsible for DYT1 dystonia. However, no other mutation has been reported in Chinese population. Methods Two hundred one dystonia patients without were screened mutations . Gene function changes analyzed by subcellular distribution and luciferase reporter assay. Results A novel (c.581A>T, p.Asp194Val) was found a patient with early‐onset segmental harboring THAP1 (c.539T>C, p.Leu180Ser). Overexpression mutant Asp194Val...
Abstract Mutations in THAP1 (THAP domain-containing apoptosis-associated protein 1) are responsible for DYT6 dystonia. Until now, more than eighty different mutations gene have been found patients with primary dystonia, and two third of them missense mutations. The potential pathogeneses these human largely elusive. In the present study, we generated stable transfected neuronal cell lines expressing wild-type or mutated proteins patients. Transcriptional profiling using microarrays revealed...
DYT6 dystonia is caused by mutations in the transcription factor THAP1. THAP1 knock-out or knock-in mouse models revealed complex gene expression changes, which are potentially responsible for pathogenesis of dystonia. However, how lead to these alterations and whether changes also reflected brain patients still unclear. In this study we used epigenetic transcriptomic approaches combined with multiple model systems [THAP1 patients' frontal cortex, induced pluripotent stem cell (iPSC)-derived...
The purpose of the current study was to determine supraorbital foramen (SOF) and infraorbital (IOF) based on soft tissue landmarks, facilitate prediction location this structure during facial surgery. Forty-two hemispheres 21 adult cadavers (16 men 5 women; aged 30–75 years) were dissected expose SOF IOF. locations IOF evaluated with direct photographic measurements. data gained analyzed by statistical method. localized 23.11 ± 2.35 mm superior 9.48 3.06 lateral angulus oculi medialis (AOM)....
Evidence from patients with Parkinson's disease (PD) and our previously reported α-synuclein (SNCA) transgenic rat model support the idea that increased SNCA protein is a substantial risk factor of PD pathogenesis. However, little known about transcription control human gene in brain vivo. Here, we identified DYT6 product THAP1 (THAP domain-containing apoptosis-associated 1) its interaction partner CTCF (CCCTC-binding factor) act as regulators SNCA. controls intronic enhancers' activities,...
Body weight (BW) loss and reduced body mass index (BMI) are the most common peripheral alterations in Huntington disease (HD) have been found HD mutation carriers animal models before manifestation of neurological symptoms. This suggests that, at least early stage, these changes could be due to abnormal tissue growth rather than atrophy. Moreover, BW BMI reported more affected males females patients. Here, we confirmed sex-dependent BACHD rat model for investigated associated contributing...
Objective To investigate the anatomical elements of ulnar nerve compression at elbow, and provide guideline for surgical decompression. Methods Thirty-two upper limb specimens 16 adult cadavers were dissected. Structures that can cause potential to elbow including arcade Struthers, medial intermuscular septum cubital tunnel measured observed. The cross-section area level length measured. Dimensions ligament, concomitant blood vessel flexor carpi ulnaris branch also Results Tendinous...