Research Topics
Genomes and Genes | Lee Jun C WongSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Publications
Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlysMichael J Gambello
Department of Pediatrics, Division of Medical Genetics, University of Texas Health Science Center, Houston, Texas, USA
Muscle Nerve 34:437-43. 2006..These data suggest that this novel mutation is yet another mtDNA mutation associated with muscle disease and should be considered in patients with similar symptoms...
Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratoriesLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX, 77030, USA
Neurotherapeutics 10:262-72. 2013....
Mitochondrial syndromes with leukoencephalopathiesLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030, USA
Semin Neurol 32:55-61. 2012..A definite diagnosis may be achieved by molecular analysis of candidate genes based on the biochemical, clinical, and imaging results...- GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairmentPu Dai
Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, PR China
J Transl Med 7:26. 2009..Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups... - Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysisPu Dai
Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, PR China
J Transl Med 6:74. 2008..Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations. The SLC26A4 gene mutations and relevant phenotype are analyzed in this study... - Molecular and clinical genetics of mitochondrial diseases due to POLG mutationsLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mutat 29:E150-72. 2008.... - AIB1 gene amplification and the instability of polyQ encoding sequence in breast cancer cell linesLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
BMC Cancer 6:111. 2006..The purpose of this study is to investigate the sequence variation of poly Q encoding region in breast cancer cell lines at single molecule level, and to determine if the sequence variation is related to AIB1 gene amplification... - Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletionsLee Jun C Wong
Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Clin Chem 54:1141-8. 2008..Oligonucleotide array-based comparative genomic hybridization (CGH) is currently in clinical use to detect major changes in chromosomal copy number... - Pathogenic mitochondrial DNA mutations in protein-coding genesLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, Texas 77030, USA
Muscle Nerve 36:279-93. 2007.... - Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancyLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hepatology 46:1218-27. 2007..CONCLUSION: We therefore propose that mutations in the MPV17 gene be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile hepatic failure... - Current molecular diagnostic algorithm for mitochondrial disordersLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Mol Genet Metab 100:111-7. 2010..The ever-expanding list of known disease-causing genes will undoubtedly improve diagnostic accuracy and genetic counseling... - Molecular genetics of mitochondrial disordersLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Dev Disabil Res Rev 16:154-62. 2010.... - Diagnostic challenges of mitochondrial DNA disordersLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
Mitochondrion 7:45-52. 2007.... - Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrumSha Tang
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
J Med Genet 48:669-81. 2011..Sequence analysis of the POLG gene should be considered as a part of routine screening for mitochondrial disorders, even in the absence of apparent mitochondrial DNA abnormalities... - Mitochondrial genetic background modifies breast cancer riskRen Kui Bai
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Cancer Res 67:4687-94. 2007..37; 95% CI, 0.19-0.73; P = 0.0023, adjusted P = 0.03). Our results suggest that mitochondrial genetic background plays a role in modifying an individual's risk to breast cancer... - MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutationsAyman W El-Hattab
Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, USA
Mol Genet Metab 99:300-8. 2010..Localizing the mutations within the predicted MPV17 protein structure reveals clustering of mutations in the region of the putative protein kinase C phosphorylation site... - Diagnostic approaches to apparent homozygosityMegan L Landsverk
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Genet Med 14:877-82. 2012..We sought to investigate the frequency at which apparently homozygous mutations detected by Sanger sequencing in our laboratory appeared homozygous due to other molecular etiologies... - An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experienceJing Wang
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Genet Med 14:620-6. 2012..Clinicians are increasingly interested in requesting mtDNA testing. However, interpretation of uncharacterized mtDNA variants is a great challenge. We suggest a stepwise interpretation procedure for clinical service... - Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromesBekim Sadikovic
Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
PLoS ONE 5:e15687. 2010..Decreased levels of sequence homology and increased levels of deletion mutant heteroplasmy appear to correlate with earlier onset and more severe disease with multisystem involvement... - Quantitative evaluation of the mitochondrial DNA depletion syndromeDavid Dimmock
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Clin Chem 56:1119-27. 2010..In the clinical setting, a simple method to quantify mtDNA depletion would be useful before undertaking gene sequence analysis... - Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disordersMegan L Landsverk
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Mol Genet Metab 103:148-52. 2011..These data highlight the importance of targeted array CGH in patients with suspected metabolic disorders and incomplete or negative sequencing results, as well as its emerging role in prenatal diagnosis... - Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysisGanka V Douglas
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
J Hum Genet 56:834-9. 2011.... - Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial diseaseFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Pediatrics 114:925-31. 2004..The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of survival depending on their clinical features... - Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosisNeil A Hanchard
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA
Mol Genet Metab 103:262-7. 2011..This report highlights hepatocerebral mtDNA depletion in the differential of neonatal tyrosinemia, advocates considering dGK deficiency in cases of NH, and posits mitochondrial oxidative processes in the pathogenesis of NH... - Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysisGuo Li Wang
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030, USA
Mol Genet Metab 103:349-57. 2011..This study underscores the importance of comprehensive molecular analysis, including sequencing and targeted array CGH of the SLC25A20 gene when CACT deficiency is suspected... - Molecular characterization of CPS1 deletions by array CGHJing Wang
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
Mol Genet Metab 102:103-6. 2011..These results underscore the importance of analysis of large deletions when only one mutation or no mutations are identified in cases where CPSI deficiency is strongly indicated... - Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromesA Craig Chinault
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genet Med 11:518-26. 2009..We have developed an improved approach for routine analyses of these disorders in a clinical laboratory... - Mitochondrial dysfunction in human breast cancer cells and their transmitochondrial cybridsYewei Ma
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, Texas 77030, USA
Biochim Biophys Acta 1797:29-37. 2010..We conclude that altered mitochondria in cancer cells may play a crucial role in tumor development... - Functional effects of cancer mitochondria on energy metabolism and tumorigenesis: utility of transmitochondrial cybridsBenny Abraham Kaipparettu
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Ann N Y Acad Sci 1201:137-46. 2010..Here we review the accumulating evidence that altered cancer mitochondria affect the respiratory chain function and oncogenic properties in vitro and in vivo using cybrid technologies... - Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosisFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA
Am J Med Genet A 123:172-8. 2003.... - POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduriaMir Reza Bekheirnia
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Gene 499:209-12. 2012.... - Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolismFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
BMC Pediatr 2:12. 2002..These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period... - Mitochondria of highly metastatic breast cancer cell line MDA-MB-231 exhibits increased autophagic propertiesYi Fang Tu
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
Biochim Biophys Acta 1807:1125-32. 2011..These results suggested that mitochondria from highly metastatic breast cancer cell line MDA-MB-231 can promote homeostatic autophagy of cancer through opening low-conductance MPT pores... - Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disordersHong Cui
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Genet Med 15:388-94. 2013..This new approach may be considered as first-line testing for comprehensive analysis of the mitochondrial genome.Genet Med 2013:15(5):388-394... - Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutationsSha Tang
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
J Neurol 259:862-8. 2012..POLG1 mutations may cause MNGIE-like syndrome, but the lack of leukoencephalopathy and the normal plasma thymidine favor POLG1 mutations as responsible molecular defect... - Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencingWei Zhang
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Clin Chem 58:1322-31. 2012..Current molecular analyses require multiple different and complementary methods for the detection and quantification of mitochondrial DNA (mtDNA) mutations. We developed a novel approach to analyze the mtDNA in 1 step... - SURF1-associated Leigh syndrome: a case series and novel mutationsInn Chi Lee
Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
Hum Mutat 33:1192-200. 2012..There is no definite genotype-phenotype correlation; however, frameshift mutations resulting in protein truncation closer to the C-terminus may carry a better prognosis... - Mitochondrial DNA variant interactions modify breast cancer riskDaniel Covarrubias
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
J Hum Genet 53:924-8. 2008.... - Individualizing antimetabolic treatment strategies for head and neck squamous cell carcinoma based on TP53 mutational statusVlad C Sandulache
Bobby R Alford Department of Otolaryngology Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, USA
Cancer 118:711-21. 2012..In this report, the authors propose a strategy that uses TP53 mutational status to individualize antimetabolic strategies for the potentiation of radiation toxicity in HNSCC cells... - Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutationGary Fruhman
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Mol Genet Metab 103:153-60. 2011..This case is unusual for age of onset, gender, associated neurological findings and evolution, further expanding the clinical spectrum associated with primary LHON mtDNA mutations... - Molecular analysis of mitochondrial DNA point mutations by polymerase chain reactionLee-Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Methods Mol Biol 336:135-43. 2006..The PCR products of a heteroplasmic DNA sample will hybridize to both wild-type and mutant ASO probes. This PCR/ASO method allows the detection of low percentage mutant heteroplasmy... - Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial diseaseRen-Kui Bai
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
J Mol Diagn 7:613-22. 2005..The presence of deletion(s) and mtDNA depletion or compensatory over-replication can be determined simultaneously by real-time qPCR... - Mitochondrial DNA content varies with pathological characteristics of breast cancerRen Kui Bai
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
J Oncol 2011:496189. 2011..mtDNA content in tumor tissues change with tumor size, grade, and ER/PR status; significant deviation from the median level of mtDNA content is associated with poor survival... - Human mitochondrial transfer RNAs: role of pathogenic mutation in diseaseFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
Muscle Nerve 37:150-71. 2008..We also provide readers with an overview of a large variety of mechanisms by which mutations may affect the mitochondrial translation machinery and cause disease... - Ablation of steroid receptor coactivator-3 resembles the human CACT metabolic myopathyBrian York
Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA
Cell Metab 15:752-63. 2012..Moreover, these findings allow us to consider platform coactivators such as the SRCs as potential contributors to syndromes such as CACT deficiency, previously considered as monogenic... - Real-time quantitative polymerase chain reaction analysis of mitochondrial DNA point mutationLee-Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houson, Texas, USA
Methods Mol Biol 335:187-200. 2006..In this chapter, we describe the detailed procedures regarding the application of fluorescent probes, and real time quantitative PCR in the molecular diagnosis of mitochondrial DNA disorders... - Molecular bases of hearing loss in multi-systemic mitochondrial cytopathyFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genet Med 8:641-52. 2006..CONCLUSION: This study reveals an expanding spectrum of mtDNA abnormalities associated with hearing loss. No correlation was found between the degrees of hearing loss and the severity of neurological manifestations... - Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defectsFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital [corrected] Houston, TX 77030, USA
AJNR Am J Neuroradiol 26:1675-80. 2005..The diagnostic workup in patients with neuromuscular features whose brain MR imaging exhibits cerebellar volume loss should include the evaluation for mitochondrial encephalomyopathies... - First prenatal exclusion of cystic fibrosis in East AsiaLee-Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Pediatr Int 49:686-7. 2007 - A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophyLee Jun C Wong
Molecular Genetics Laboratory, Institute for Molecular and Human Genetics, Georgetown University Medical Center, M4000, 3800 Reservoir Road NW, Washington, DC 20007, USA
Muscle Nerve 30:118-22. 2004.... - Quantitative PCR analysis of mitochondrial DNA content in patients with mitochondrial diseaseRen-Kui Bai
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington DC 20007, USA
Ann N Y Acad Sci 1011:304-9. 2004..Our results demonstrate that real time quantitative PCR is a valuable tool for molecular screening of mitochondrial diseases... - Enhanced detection of deleterious mutations by TTGE analysis of mother and child's DNA side by sideHaeyoung Kwon
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
Ann N Y Acad Sci 1011:299-303. 2004..Running TTGE side by side with DNAs from mother and the affected child is a novel method to detect deleterious mutations... - Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approachLee Jun C Wong
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
Ann N Y Acad Sci 1011:246-58. 2004.... - Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approachRen-Kui Bai
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC, USA
Clin Chem 50:996-1001. 2004..Three samples contained allele-specific oligonucleotide-detectable but RFLP-undetectable mutations. CONCLUSIONS: The real-time ARMS-qPCR method provides rapid, reliable, one-step quantitative detection of heteroplasmic mutant mtDNA... - Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutationAndrea Gropman
Neurogenetics Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Am J Med Genet A 124:377-82. 2004..Published 2003 Wiley-Liss, Inc... - Novel heteroplasmic frameshift and missense somatic mitochondrial DNA mutations in oral cancer of betel quid chewersDuan-Jun Tan
Department of Oncology, Georgetown University Medical Center, Washington, DC 20057-1477, USA
Genes Chromosomes Cancer 37:186-94. 2003..More extensive biochemical and molecular studies will be necessary for determining the pathologic effect of these somatic mutations... - Comprehensive scanning of the entire mitochondrial genome for mutationsLee Jun C Wong
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
Clin Chem 48:1901-12. 2002..We used temporal temperature gradient gel electrophoresis (TTGE) to detect heteroplasmic mutations from homoplasmic variations in the whole mitochondrial genome... - Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNALee-Jun C Wong
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
Genet Med 4:78-83. 2002..Transmission of T8993C, G8363A, and A8344G does not result in significant intergenerational change in mutant load. Tissue specificity and genetic background may play important roles in the transmission of pathogenic heteroplasmic mtDNA... - Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancerDuan-Jun Tan
Department of Oncology, Georgetown University Medical Center, Washington, DC 20007, USA
Cancer Res 62:972-6. 2002..Twenty-seven somatic mutations were found, and 22 of them occurred in the D loop region. This study represents the most comprehensive mtDNA mutational analysis in breast cancer... - Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutationsMargherita Milone
Department of Neurology, Mayo Clinic, Rochester, MN, USA
Neuromuscul Disord 18:626-32. 2008..Due to these diagnostic difficulties, POLG-related syndromes are definitively diagnosed based on the presence of deleterious mutations in the POLG gene... - Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancerDuan Jun Tan
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington DC, USA
BMC Cancer 6:93. 2006..In this study we aim to establish the mutation spectrum and to understand the role of somatic mtDNA mutations in esophageal cancer... - Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patientsOzgul M Alper
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007 2113, USA
Hum Mutat 24:353. 2004..The discovery of recurrent rare and novel mutations improves the diagnosis and care of persons with CF and improves our ability to adequately and equitably provide screening and genetic counseling services to non-Caucasians... - Hearing loss in mitochondrial disordersChang-Hung Hsu
Institute for Molecular and Human Genetics, Georgetown University Medical Center, 3800 Reservoir Rd, NW, Washington, DC 20007, USA
Ann N Y Acad Sci 1042:36-47. 2005..This study revealed that the majority of the mtDNA defects in patients with mitochondrial syndromic hearing loss affect the overall mitochondrial gene expression... - Mitochondrial DNA analysis in clinical laboratory diagnosticsLee-Jun C Wong
Institute for Molecular and Human Genetics, Georgetown University Medical Center, 3800 Reservoir Road, NW, M4000, Washington, DC 20007, USA
Clin Chim Acta 354:1-20. 2005..Prenatal diagnosis is problematic in most cases... - Molecular genetics of common mitochondrial DNA disordersLee Jun C Wong
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington DC 20007, USA
Beijing Da Xue Xue Bao 37:26-31. 2005..This review provides overview of current molecular diagnosis of mitochondrial DNA disorders that is useful in patient care and genetic counseling... - Detection of CFTR mutations using temporal temperature gradient gel electrophoresisLee Jun C Wong
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
Electrophoresis 25:2593-601. 2004..Our data demonstrate that screening of the 27 exons and intron/exon junctions of the CFTR gene by TTGE greatly improves the molecular diagnosis of Hispanic CF patients... - Design and use of a peptide nucleic acid for detection of the heteroplasmic low-frequency mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) mutation in human mitochondrial DNADiane K Hancock
Biotechnology Division, National Institute of Standards and Technology, 100 Bureau Drive, Gaithersburg, MD 20899, USA
Clin Chem 48:2155-63. 2002..1% of the concentration of the wild-type sequence. CONCLUSION: This methodology permits easy detection of low concentrations of the MELAS A3243G mutation in blood by standard PCR and sequencing methods... - Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafnessAnnette Feigenbaum
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet A 140:2216-22. 2006..This case emphasizes the importance of pursuing more extensive mutational analysis of mtDNA in the absence of common mtDNA point mutations or large deletions, when there is a high suspicion of a mitochondrial disorder... - A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disordersLee Jun C Wong
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
Am J Med Genet 113:59-64. 2002..This case underscores the importance of a complete mutational analysis of the entire mitochondrial genome when a patient suspected of mitochondrial disorder is negative for common mtDNA mutations... - Alpers syndrome with prominent white matter changesXinhua Bao
Department of Pediatrics, Peking University First Hospital, Beijing, China
Brain Dev 30:295-300. 2008..In addition, there were prominent white matter changes in a series of brain magnetic resonance imaging (MRI) and increased immunological factors in CSF... - Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferensChien Chih Wu
Graduate Institute of Medical Sciences, Taipei Medical University, Taiwan
Hum Reprod 20:2470-5. 2005..In order to understand the involvement of the CFTR gene in the aetiology of Asian/Taiwanese male infertility, we screened the entirety of the CFTR gene in 36 infertile males with CBAVD... - 1154insTC is not a rare CFTR mutationOzgul M Alper
Am J Med Genet A 120:294-5. 2003 - Detection of mitochondrial DNA mutations in the tumor and cerebrospinal fluid of medulloblastoma patientsLee-Jun C Wong
Institute for Molecular and Human Genetics, Georgetown University, Washington, DC, 20007, USA
Cancer Res 63:3866-71. 2003..Our results demonstrate that mtDNA mutations are frequently found in medulloblastomas. The mtDNA alterations detected in CSF may be used as sensitive markers to monitor disease progression and predict relapse... - Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutationsLee-Jun C Wong
Am J Med Genet A 120:296-8. 2003 - [Evaluation of inheritable character in essential hypertension through reconstruction of neighbor-joining tree]Ling Ling Liu
The Institute of Geriatric Cardiology, Chinese PLA General Hospital, Beijing 100853, China
Yi Chuan 26:441-5. 2004..The genotypes of np152C, np182T, np247A, np16187T, np16189C, np16264T, np16270T and np16311C may be potential genetic markers for susceptibility to hypertension... - The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilizationLee Jun C Wong
Department of Oncology, Molecular Genetics Laboratory, Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
Fertil Steril 82:947-9. 2004..To determine the genotype of a triplet resulted from an IVF procedure, with discordant cystic fibrosis (CF) phenotype... - Somatic mitochondrial DNA mutations in oral cancer of betel quid chewersDuan-Jun Tan
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
Ann N Y Acad Sci 1011:310-6. 2004..The missense and frameshift mutations in the evolutionary conserved regions of the mitochondrial genome may have functional significance in the pathogenesis of oral cancer... - Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumorsAndreas Kurtz
Massachusetts General Hospital, Harvard Medical School, Charlestown, USA
Mol Cancer Res 2:433-41. 2004.... - Detection of mitochondrial DNA mutations using temporal temperature gradient gel electrophoresisLee Jun C Wong
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
Electrophoresis 25:2602-10. 2004..It also detects heteroplasmic changes in the background of a homoplasmic polymorphism. Overall, TTGE was proven to be a simple, rapid, sensitive, and effective mutation detection method...
Research Grants
- The Role of Mitochondrial DNA Alterations in CancerLee Jun Wong; Fiscal Year: 2007..Results from this research project will help us understand the functional role of mitochondrial DNA alterations in cancer and identify potential novel targets for more effective therapeutic development. ..