A5031457213- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Hearing, Cochlea, Tinnitus, Genetics
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Reproductive Biology and Fertility
- Neurogenetic and Muscular Disorders Research
- Congenital heart defects research
- Advanced biosensing and bioanalysis techniques
- Ovarian function and disorders
- Neurofibromatosis and Schwannoma Cases
- Medical Imaging and Pathology Studies
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- Neuroscience of respiration and sleep
- Folate and B Vitamins Research
- Connexins and lens biology
- Genetic Syndromes and Imprinting
- Metabolism and Genetic Disorders
- Genetic factors in colorectal cancer
- Soft tissue tumor case studies
- RNA Research and Splicing
- Immune Cell Function and Interaction
Heidelberg University
2024
German Centre for Cardiovascular Research
2024
Center for Excellence in Brain Science and Intelligence Technology
2022
Chinese Academy of Sciences
2022
Boston Children's Hospital
2008-2021
Harvard University
2008-2021
Children's Hospital of Fudan University
2010-2021
Fudan University
2009-2021
Shanghai Medical College of Fudan University
2015-2016
Hebei Medical University
2016
Genetic studies of Tibetans, an ethnic group with a long-lasting presence on the Tibetan Plateau which is known as highest plateau in world, may offer unique opportunity to understand biological adaptations human beings high-altitude environments. We conducted genome-wide study 1,000,000 genetic variants 46 Tibetans (TBN) and 92 Han Chinese (HAN) for identifying signals (HAAs) genomes. discovered most differentiated between TBN HAN at chromosome 1q42.2 2p21. EGLN1 (or HIFPH2, MIM 606425)...
Research has implicated mutations in the gene for neurexin-1 (NRXN1) a variety of conditions including autism, schizophrenia, and nicotine dependence. To our knowledge, there have been no published reports describing breadth phenotype associated with NRXN1. We present medical record review subjects deletions involving exonic sequences ascertained cases from 3,540 individuals referred clinically comparative genomic hybridization testing March 2007 to January 2009. Twelve were identified...
To evaluate the role of copy number abnormalities detectable using chromosomal microarray (CMA) testing in patients with epilepsy at a tertiary care center.We identified International Classification Diseases, ninth revision (ICD-9) codes for or seizures and clinical CMA performed between October 2006 February 2011 Boston Children's Hospital. We reviewed medical records included who met criteria epilepsy. phenotypically characterized epilepsy-associated on CMA.Of 973 had ICD-9 seizures, 805...
Summary Malignant migrating partial seizures in infancy (MMPEI) is an early onset epileptic encephalopathy with few known etiologies. We sought to identify a novel cause of MMPEI child whose healthy parents were consanguineous. used array comparative genomic hybridization (CGH) copy number variants genome‐wide and long‐range polymerase chain reaction further delineate the breakpoints deletion found by CGH. The proband had inherited homozygous chromosome 20p13, disrupting promoter region...
Although oncogenic <i>ras</i> plays a pivotal role in neoplastic transformation, it triggers an anti-oncogenic defense mechanism known as premature senescence normal cells. In this study, we investigated the induction of cellular responses by different expression levels primary human fibroblasts. We found that moderate, severalfold increase promoted cell growth. Further elevation initially enhanced proliferation but eventually induced p16<sup>INK4A</sup> and senescence. The these opposing...
Omega-6 (n-6) and omega-3 (n-3) polyunsaturated fatty acids (PUFA) are essential nutrients for brain development function. However, whether or not the levels of these altered in individuals with autism remains debatable. In this study, we compared acid contents between 121 autistic patients 110 non-autistic, non-developmentally delayed controls, aged 3-17. Analysis composition red blood cell (RBC) membrane phospholipids showed that percentage total PUFA was lower than controls; n-6...
Inner ear vestibular and spiral ganglion neurons (VGNs SGNs) are known to play pivotal roles in balance control sound detection. However, the molecular mechanisms underlying otic neurogenesis at early embryonic ages have remained unclear. Here, we use single-cell RNA sequencing reveal transcriptomes of mouse tissues three ages, day 9.5 (E9.5), E11.5, E13.5, covering proliferating undifferentiated neuroblasts differentiating VGNs SGNs. We validate high quality our studies by using multiple...
Abstract Genetic analysis of NF1 has indicated a wide diversity mutations, including chromosome rearrangements, deletions, insertions, duplications, and point mutations. Recently, five severely affected individuals have been found by Kayes et al. [1994] to deletions encompassing the entire gene. These were detected quantitative Southern analysis. To simplify deletion detection, we employed fluorescence in situ hybridization (FISH) using intragenic probes. Thirteen unrelated with studied....
Abstract BACKGROUND: Neural tube defects are severe, common birth that result from failure of neural closure. They considered to be a multifactorial disorder, and our knowledge causal mechanisms remains limited. We hypothesized abnormal DNA methylation occurs in NTD‐affected fetuses. The correlations global levels with complexity NTDs known risk factors NTDs, MTHFR genotype fever, were analyzed. METHODS: A hospital‐based case‐control study was performed. Epidemiologic data, pathologic...
To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, to evaluate clinical value chromosomal microarray-based analysis (CMA) in study such pregnancies.First, we carried out retrospective cases diagnosed between January 2009 December 2011 our center findings (n = 276). Second, CMA was performed 51 normal negative or no study, only fetus a heart defect an apparently balanced de novo rearrangement.Out...
Submicroscopic genomic imbalance underlies well-defined microdeletion and microduplication syndromes contributes to general developmental disorders such as mental retardation autism. Array comparative hybridization (CGH) complements routine cytogenetic methods karyotyping fluorescence in situ (FISH) for the detection of imbalance. Oligonucleotide arrays particular offer advantages ease manufacturing, but standard single-nucleotide polymorphism genotyping or linkage analysis variable coverage...
Increasing evidence that mutation of planar cell polarity (PCP) genes contributes to human cranial neural tube defect (NTD) susceptibility prompted us hypothesize rare variants in the core apical-basal (ABP) pathway are risk factors for NTDs. In this study, we screened genomic variation PARD3 138 NTD cases and 274 controls. Overall, deleterious were significantly associated with increased NTDs (11/138 vs.7/274, P < 0.05, OR = 3.3). These NTD-specific enriched aPKC-binding region (6/138 vs....
Abstract Despite numerous advances in our understanding of zebrafish cardiac regeneration, an aspect that remains less studied is how regenerating cardiomyocytes invade, and eventually replace, the collagen-containing fibrotic tissue following injury. Here, we provide in-depth analysis process cardiomyocyte invasion using live-imaging histological approaches. We observed close interactions between protruding macrophages at wound border zone, macrophage-deficient irf8 mutant exhibited defects...
We describe the clinical manifestations and molecular cytogenetic analyses of three patients with a similar distal deletion chromosome 8. Each child had mild developmental delay subtle minor anomalies. Two cardiac anomalies but no other major congenital were present. High resolution G R banding showed in all del(8)(p23.1), breakpoint case 1 was to 8p23.1, 2 middle 3 proximal 8p23.1. Fluorescence situ hybridization (FISH) studies 8 paint probe confirmed that rearrangement occurred. FISH...
HFM1 is a meiosis‐specific gene and expressed in germ‐line tissues. More recently, evidence has indicated that variations could be causative for primary ovarian insufficiency ( POI ), also known as premature failure. The aim of this study was to investigate the association between variants sporadic Chinese women. A total 138 patients 316 healthy controls (matched ethnic background, sex, age patients) were recruited study. We screened entire coding region by direct sequencing all subjects...
Abstract Hearing loss is a common congenital disorder that frequently associated with mutations in the Cx26 gene ( GJB2 ). Three recent reports found large deletion another DFNB1 gene, Cx30 GJB6 ), suggest this defect may cause nonsyndromic recessive hearing through either homozygous of Cx30, or digenic inheritance and mutation trans . We designed simple diagnostic strategy multiplex PCR followed by direct sequencing to allow for simultaneous detection deletions, evaluated its effectiveness...
Abstract 20p13 telomeric/subtelomeric deletions are clinically significant but currently under‐investigated. So far only five molecularly delineated cases have been reported in literature and no candidate genes sufficiently implicated. Here, we present six new deletion identified by chromosomal microarray analysis (CMA). We also review 32 combined from databases. found that most patients exhibit developmental delay. Dysmorphic features common a consistent pattern was not recognized. Reduced...
Abstract Angelman syndrome (AS) is a profound disorder notable for mental retardation and severe language deficits that results from lack of function the maternally inherited copy UBE3A gene. Chromosome deletions 15q11q13, paternal uniparental disomy (UPD), gene mutations, imprinting center defects are all commonly recognized mechanisms disrupt maternal We report here two patients with different atypical etiologies AS. The first patient 3‐year‐old boy global developmental delay, speech...