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    Yah-huei Wu-chou

    Chang Gung Memeorial Hospital, Medical Research, Faculty Member
    Papers
    SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Managementmore
    by Yah-huei Wu-chou
    Primary systemic carnitine deficiency (SCD) is an autosomal-recessive disorder caused by SLC22A5 gene mutation resulting in defective cellular carnitine transporter organic cation transporter 2. Defective carnitine transporter causes... more
    Primary systemic carnitine deficiency (SCD) is an autosomal-recessive disorder caused by SLC22A5 gene mutation resulting in defective cellular carnitine transporter organic cation transporter 2. Defective carnitine transporter causes renal carnitine wasting and low serum carnitine. Carnitine is an essential cofactor for the transportation of long-chain fatty acids into the mitochondria. Lacking of carnitine may cause metabolic decompensation and sudden death when the patient is exposed to prolonged fasting before an operation. An asymptomatic 9-month-old boy with SCD diagnosed by local hospital was referred to the authors' hospital for incomplete cleft palate plastic surgery. Due to potential metabolic decompensation from prolonged fasting before the surgery, the patient underwent proper perioperative management. The operation was successful and subsequent clinical course was fine. The patient was discharged on postoperative day 3. With proper perioperative management, patients ...
    Publication Date: Jan 10, 2018
    Publication Name: The Journal of craniofacial surgery
    Research Interests:
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    Association Between IRF6 and Nonsyndromic Oral Clefts In 4 Populationsmore
    by Yah-huei Wu-chou
    Publisher: Oxford University Press (OUP)
    Publication Date: 2006
    Publication Name: American Journal of Epidemiology
    Research Interests:
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    Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent triosmore
    by Yah-huei Wu-chou
    Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with a complex and heterogeneous etiology. A recent genome-wide association study (GWAS) among Chinese populations has identified a new region at... more
    Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with a complex and heterogeneous etiology. A recent genome-wide association study (GWAS) among Chinese populations has identified a new region at 16p13.3 as being associated with NSCL/P, which requires further replication. Here, we attempted to replicate and further clarify the genetic association between this region and NSCL/P, as well as testing for potential gene-gene (G × G) and gene-environment (G × E) interactions. We conducted transmission disequilibrium tests on 69 single nucleotide polymorphisms (SNPs) mapping to 16p13.3 among 806 Chinese case-parent trios ascertained through an international consortium where a GWAS of oral clefts was conducted. G × G, as well as G × E interactions involving maternal environmental tobacco smoke (ETS) and multivitamin supplementation, were explored using conditional logistic regression model. We applied Cordell's method as implemented in the R package ...
    Publication Date: Jan 12, 2017
    Publication Name: American journal of medical genetics. Part A
    Research Interests:
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    Mutations in the Human Ca{sup 2+}-sensing-receptor gene that cause familial hypocalciuric hypercalcemiamore
    by Yah-huei Wu-chou
    We report five novel mutations in the human Ca{sup 2+}-sensing-receptor gene that cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism. Each gene defect is a missense mutation that encodes a... more
    We report five novel mutations in the human Ca{sup 2+}-sensing-receptor gene that cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism. Each gene defect is a missense mutation that encodes a nonconservative amino acid alteration. These mutations are each predicted to be in the Ca{sup 2+}-sensing receptor`s large extracellular domain. In three families with FHH linked to the Ca{sup 2+}-sensing-receptor gene on chromosome 3 and in unrelated individuals probands with FHH, mutations were not detected in protein-coding sequences. On the basis of these data and previous analyses, we suggest that there are a wide range of mutations that cause FHH. Mutations that perturb the structure and function of the extracellular or transmembrane domains of the receptor and those that affect noncoding sequences of the Ca{sup 2+}-sensing-receptor gene can cause FHH. 23 refs., 2 figs., 1 tab.
    Research Interests:
    Decreased dopamine transporter binding in Machado-Joseph diseasemore
    by Yah-huei Wu-chou
    The aim of this study was to use 99mTc-TRODAT-1 brain SPECT for investigation of the binding of dopamine transporter (DAT) in the nigrostriatal dopaminergic pathway of symptomatic Machado-Joseph disease (MJD) and to compare the results... more
    The aim of this study was to use 99mTc-TRODAT-1 brain SPECT for investigation of the binding of dopamine transporter (DAT) in the nigrostriatal dopaminergic pathway of symptomatic Machado-Joseph disease (MJD) and to compare the results with the abnormal cytidylate, adenylate, and guanylate (CAG) expansion in the MJD1 gene and other clinical factors. Ten symptomatic MJD patients (8 women, 2 men; age range, 20-71 y; mean age +/- SD, 36.4 +/- 10.6 y; mean duration of illness, 9.8 +/- 5.4 y) and 21 healthy volunteers (age range, 24-71 y; mean age, 47.6 +/- 20.1 y) were examined. Brain SPECT images were acquired 4 h after injection. The ratio of specific to nonspecific nigrostriatal 99mTc-TRODAT-1 binding was measured and compared with the clinical symptoms, duration of illness, and size of abnormal expanded CAG repeats. All nigrostriatal 99mTc-TRODAT-1 ratios were significantly lower in MJD patients than in healthy volunteers (P < 0.05). Discriminant function analysis of all MJD pati...
    Publication Date: 2000
    Publication Name: Journal of nuclear medicine : official publication, Society of Nuclear Medicine
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    K-ras codon 12 mutation determines the polypoid growth of colorectral cancermore
    by Yah-huei Wu-chou
    Colorectal carcinogenesis is widely thought to follow the adenoma-adenocarcinoma sequence. However, there are two morphologically distinct subtypes of colorectal cancer (CRC), polypoid and ulcerative. We conducted a comparative study to... more
    Colorectal carcinogenesis is widely thought to follow the adenoma-adenocarcinoma sequence. However, there are two morphologically distinct subtypes of colorectal cancer (CRC), polypoid and ulcerative. We conducted a comparative study to clarify whether different combinations of some commonly involved genetic alterations (including mutations in K-ras, p53, DCC, APC, and Rb genes) may exist between polypoid- and ulcerative-type CRCs, the two morphologically distinct types of CRC. By using PCR-based RFLP, single-strand conformational polymorphism, and loss of heterozygosity analysis, we found that K-ras codon 12 mutation was preferentially involved in polypoid tumor (P < 0.0001). There were no other significant correlations with p53 point mutation or loss of heterozygosity in chromosomes 5q, 17p, and 18q and Rb gene, which have been suggested to be involved in the progression of CRC of both morphological types. Therefore, different combinations of molecular genetic alterations may b...
    Publication Date: 1998
    Publication Name: Cancer research
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    Dopamine transporter concentration is reduced in asymptomatic Machado-Joseph disease gene carriersmore
    by Yah-huei Wu-chou
    Dopamine transporter (DAT) binding is decreased in Machado-Joseph disease (MJD) patients. To further investigate the DAT activity in asymptomatic MJD (aMJD) gene carriers, we performed this prospective study using (99m)Tc-TRODAT-1... more
    Dopamine transporter (DAT) binding is decreased in Machado-Joseph disease (MJD) patients. To further investigate the DAT activity in asymptomatic MJD (aMJD) gene carriers, we performed this prospective study using (99m)Tc-TRODAT-1 ([(99m)Tc][2[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo[3,2,1]oct-2-yl]-methyl](2-mercaptoethyl)amino]ethyl]amino]ethane-thiolato(3-)-N2,N2',S2,S2]oxo-[1R-(exo-exo)])) brain SPECT on 5 aMJD gene carriers, 10 age-matched MJD patients, and 10 age-matched healthy control subjects. Brain SPECT images were acquired 4 h after intravenous injection of 925 MBq (25 mCi) (99m)Tc-T RODAT-1, which is known to bind specifically to the DAT on the nigrostriatal terminals. By fusing these SPECT images with a striatal atlas, obtained from MRI, binding of this tracer in the entire striatum was measured and the uptake values in bilateral striatal areas were compared between these 3 groups. The uptake values of the aMJD gene carriers (P < 0.001) and MJD patients (P...
    Publication Date: 2002
    Publication Name: Journal of nuclear medicine : official publication, Society of Nuclear Medicine
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    Mutations of the PKD2 Gene in Taiwanese Patients with Autosomal Dominant Polycystic Kidney Diseasemore
    by Yah-huei Wu-chou
    Publisher: Informa UK Limited
    Publication Date: 2005
    Publication Name: Renal Failure
    Research Interests:
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    SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Managementmore
    by Yah-huei Wu-chou
    Primary systemic carnitine deficiency (SCD) is an autosomal-recessive disorder caused by SLC22A5 gene mutation resulting in defective cellular carnitine transporter organic cation transporter 2. Defective carnitine transporter causes... more
    Primary systemic carnitine deficiency (SCD) is an autosomal-recessive disorder caused by SLC22A5 gene mutation resulting in defective cellular carnitine transporter organic cation transporter 2. Defective carnitine transporter causes renal carnitine wasting and low serum carnitine. Carnitine is an essential cofactor for the transportation of long-chain fatty acids into the mitochondria. Lacking of carnitine may cause metabolic decompensation and sudden death when the patient is exposed to prolonged fasting before an operation. An asymptomatic 9-month-old boy with SCD diagnosed by local hospital was referred to the authors' hospital for incomplete cleft palate plastic surgery. Due to potential metabolic decompensation from prolonged fasting before the surgery, the patient underwent proper perioperative management. The operation was successful and subsequent clinical course was fine. The patient was discharged on postoperative day 3. With proper perioperative management, patients ...
    Publication Date: Jan 10, 2018
    Publication Name: The Journal of craniofacial surgery
    Research Interests:
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    BMP4 Was Associated with NSCL/P in an Asian Populationmore
    by Yah-huei Wu-chou
    Publisher: Public Library of Science (PLoS)
    Publication Date: 2012
    Publication Name: PLoS ONE
    Research Interests:
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    The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's diseasemore
    by Yah-huei Wu-chou
    Search by Subject Search using Medical Subject Headings (< b> MeSH</b>), a controlled vocabulary for indexing life sciences content.< br/> Note that some records do not have MeSH. These include... more
    Search by Subject Search using Medical Subject Headings (< b> MeSH</b>), a controlled vocabulary for indexing life sciences content.< br/> Note that some records do not have MeSH. These include Patents and the latest PubMed and PubMed Central records.
    Publisher: Elsevier BV
    Publication Date: 2005
    Publication Name: Parkinsonism & Related Disorders
    Research Interests:
    Mutations in the Human Ca{sup 2+}-sensing-receptor gene that cause familial hypocalciuric hypercalcemiamore
    by Yah-huei Wu-chou
    We report five novel mutations in the human Ca{sup 2+}-sensing-receptor gene that cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism. Each gene defect is a missense mutation that encodes a... more
    We report five novel mutations in the human Ca{sup 2+}-sensing-receptor gene that cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism. Each gene defect is a missense mutation that encodes a nonconservative amino acid alteration. These mutations are each predicted to be in the Ca{sup 2+}-sensing receptor`s large extracellular domain. In three families with FHH linked to the Ca{sup 2+}-sensing-receptor gene on chromosome 3 and in unrelated individuals probands with FHH, mutations were not detected in protein-coding sequences. On the basis of these data and previous analyses, we suggest that there are a wide range of mutations that cause FHH. Mutations that perturb the structure and function of the extracellular or transmembrane domains of the receptor and those that affect noncoding sequences of the Ca{sup 2+}-sensing-receptor gene can cause FHH. 23 refs., 2 figs., 1 tab.
    Research Interests:
    DYT1 mutation in a cohort of Taiwanese primary dystoniasmore
    by Yah-huei Wu-chou
    To investigate the DYT1 gene mutation in Chinese ethnic, we examined a series of 200 patients with primary dystonias (11 familial and 189 sporadic), 53 of their asymptomatic relatives, 97 patients with familial or early-onset... more
    To investigate the DYT1 gene mutation in Chinese ethnic, we examined a series of 200 patients with primary dystonias (11 familial and 189 sporadic), 53 of their asymptomatic relatives, 97 patients with familial or early-onset parkinsonism, and 200 healthy subjects. The GAG deletion at codon 946 was only found in three sporadic dystonia patients and seven of their asymptomatic familial members. The frequency of GAG deletion was 1.5% in dystonia patients, and was 6.7% in early-onset dystonias (< or = 26 years). We conclude that DYT1 mutation is a minor cause of primary dystonias in a cohort of Taiwanese population.
    Publisher: Elsevier BV
    Publication Date: 2006
    Publication Name: Parkinsonism & Related Disorders
    Research Interests:
    Large SGCE deletion contributes to Taiwanese myoclonus–dystonia syndromemore
    by Yah-huei Wu-chou
    We report three novel deletions of the SGCE gene in three families with myoclonus-dystonia (M-D) syndrome in Taiwan. Their clinical characteristics included: early onset, dominant myoclonus and dystonia in the neck, trunk and upper limbs.... more
    We report three novel deletions of the SGCE gene in three families with myoclonus-dystonia (M-D) syndrome in Taiwan. Their clinical characteristics included: early onset, dominant myoclonus and dystonia in the neck, trunk and upper limbs. By direct sequencing of the SGCE gene coding regions, we identified a small heterozygous deletion (c.842delA) in exon 7 of the three sibs and asymptomatic father in the first family and an eight-base heterozygous deletion (c.524_531del) in exon 5 of the mother and a daughter in the second family. Using multiple ligation-dependent probe amplification (MLPA), a large heterozygous deletion of 2-11 exons was identified in the father and a son in the third family which was undetected by initial sequencing. It is the largest intragenic deletion ever reported. In conclusion, we have identified three novel mutations of SGCE in the respective three M-D families. The large deletion was responsible for one third of these M-D families which might implicate an important contribution to Taiwanese M-D syndrome. We suggest that the contribution of large deletion should be further verified in a large cohort of patients with M-D syndrome in Han Chinese.
    Publisher: Elsevier BV
    Publication Date: 2010
    Publication Name: Parkinsonism & Related Disorders
    Research Interests:
    Analysis of the LRRK2 Gly2385Arg variant in primary dystonia and multiple system atrophy in Taiwanmore
    by Yah-huei Wu-chou
    Publisher: Elsevier BV
    Publication Date: 2008
    Publication Name: Parkinsonism & Related Disorders
    Research Interests:
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    LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8more
    by Yah-huei Wu-chou
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2007
    Publication Name: Neurology
    Research Interests:
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    A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwanmore
    by Yah-huei Wu-chou
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2006
    Publication Name: Neurogenetics
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    The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese populationmore
    by Yah-huei Wu-chou
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2008
    Publication Name: Neurogenetics
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    Analysis of the UCHL1 genetic variant in Parkinson's disease among Chinesemore
    by Yah-huei Wu-chou
    Publisher: Elsevier BV
    Publication Date: 2010
    Publication Name: Neurobiology of Aging
    Research Interests:
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    Taiwanese cases of SCA2 are derived from a single foundermore
    by Yah-huei Wu-chou
    Publisher: Wiley-Blackwell
    Publication Date: 2005
    Publication Name: Movement Disorders
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    Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegiamore
    by Yah-huei Wu-chou
    Publisher: Elsevier BV
    Publication Date: 2012
    Publication Name: Journal of the Formosan Medical Association
    Research Interests:
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    Examining Markers in 8q24 to Explain Differences in Evidence for Association With Cleft Lip With/Without Cleft Palate Between Asians and Europeansmore
    by Yah-huei Wu-chou
    Publisher: Wiley
    Publication Date: 2012
    Publication Name: Genetic Epidemiology
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    X-linked markers in the Duchenne muscular dystrophy gene associated with oral cleftsmore
    by Yah-huei Wu-chou
    Publisher: Wiley-Blackwell
    Publication Date: 2013
    Publication Name: European Journal of Oral Sciences
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    The FGF and FGFR Gene Family and Risk of Cleft Lip with or Without Cleft Palatemore
    by Yah-huei Wu-chou
    Background Isolated, nonsyndromic cleft lip with or without cleft palate is a common human congenital malformation with a complex and heterogeneous etiology. Genes coding for fibroblast growth factors and their receptors ( FGF/FGFR genes)... more
    Background Isolated, nonsyndromic cleft lip with or without cleft palate is a common human congenital malformation with a complex and heterogeneous etiology. Genes coding for fibroblast growth factors and their receptors ( FGF/FGFR genes) are excellent candidate genes. Methods We tested single-nucleotide polymorphic markers in 10 FGF/FGFR genes (including FGFBP1, FGF2, FGF10, FGF18, FGFR1, FGFR2, FGF19, FGF4, FGF3, and FGF9) for genotypic effects, interactions with one another, and with common maternal environmental exposures in 221 Asian and 76 Maryland case-parent trios ascertained through a child with isolated, nonsyndromic cleft lip with or without cleft palate. Results Both FGFR1 and FGF19 yielded evidence of linkage and association in the transmission disequilibrium test, confirming previous evidence. Haplotypes of three single-nucleotide polymorphisms in FGFR1 were nominally significant among Asian trios. Estimated odds ratios for individual single-nucleotide polymorphic mark...
    Publisher: SAGE Publications
    Publication Date: 2013
    Publication Name: The Cleft Palate-Craniofacial Journal
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    Frequent allelic loss on chromosomes 4q and 16q associated with human hepatocellular carcinoma in Taiwanmore
    by Yah-huei Wu-chou
    Publisher: Elsevier BV
    Publication Date: 1998
    Publication Name: Cancer Letters
    Research Interests:
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    Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palatemore
    by Yah-huei Wu-chou
    Publisher: Wiley
    Publication Date: 2012
    Publication Name: Birth Defects Research Part A: Clinical and Molecular Teratology
    Research Interests:
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    The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2more
    by Yah-huei Wu-chou
    Publisher: American Medical Association (AMA)
    Publication Date: 2004
    Publication Name: Archives of Neurology
    Research Interests:
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    Autonomic Dysfunction in Machado-Joseph Diseasemore
    by Yah-huei Wu-chou
    Publisher: American Medical Association (AMA)
    Publication Date: 2005
    Publication Name: Archives of Neurology
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    PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's diseasemore
    by Yah-huei Wu-chou
    Mutations of PLA2G6 gene have been lately proposed to be the causative gene for PARK14 in patients with autosomal recessive young-onset parkinsonism (YOPD). The role of PLA2G6 mutations as a risk factor for... more
    Mutations of PLA2G6 gene have been lately proposed to be the causative gene for PARK14 in patients with autosomal recessive young-onset parkinsonism (YOPD). The role of PLA2G6 mutations as a risk factor for Parkinson's disease is not clear. To study the PLA2G6 mutations in PARK14-linked patients and its association with the onset of sporadic Parkinson's disease (sPD), sequencing and gene dosage analyses were carried out in 25 patients (onset age ≦30 years) then the identified variants were assessed in 956 sporadic PD (sPD) patients and 802 age-matched healthy controls. Four genetic variants were identified; one patient had homozygous c.991G > T (p.Asp331Tyr) mutation, two had compound heterozygous c.991G > T/c.1077G > A (p.Met358IlefsX) mutation, one had single c.1976A > G (p.Asn659Ser) mutation, and one patient had an exon 1 hetero-deletion. The c.1077G > A mutation resulted in a 4-bp deletion in leukocyte mRNA by activating a cryptic splice site in exon 7. Only p.Asp331Tyr was identified in four sPD patients and four controls. The onset age for PLA2G6 mutation carriers was younger than that for sPD (29.86 ± 8.59 vs. 56.84 ± 11.33 years, P = 0.0002). The analysis of previously reported PARK14 patients revealed that those who carried a truncated mutation tended to have a complicated phenotype and atrophies of cortex and cerebellum. In conclusion, PLA2G6 mutation was the second common genetic cause after PRKN mutation in our YOPD patients and might be a risk factor for early-onset PD in Han Chinese. Additionally, mutation data should be interpreted carefully because even a synonymous mutation could cause abnormal mRNA splicing.
    Publisher: Wiley
    Publication Date: 2011
    Publication Name: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
    Research Interests:
    LRRK2 G2385R modulates age at onset in Parkinson's disease: A multi-center pooled analysismore
    by Yah-huei Wu-chou
    Publisher: Wiley
    Publication Date: 2009
    Publication Name: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
    Research Interests:
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    High frequency of multiexonic deletion of theGCH1gene in a Taiwanese cohort of dopa-response dystoniamore
    by Yah-huei Wu-chou
    Large deletions in the GCH1 gene have been reported in a minority of cases of dopa-responsive dystonia (DRD). In this study, we performed an extensive clinical and genetic investigation of 22 affected members in eight families. Sequence... more
    Large deletions in the GCH1 gene have been reported in a minority of cases of dopa-responsive dystonia (DRD). In this study, we performed an extensive clinical and genetic investigation of 22 affected members in eight families. Sequence analysis revealed five different mutations in five families (n = 10); Ser81Pro (novel), Ser76X, Gly203Arg, 249del A, and IVS5 + 3insT. Applying multiple ligation-dependent probe amplification analysis, we detected a large heterozygous deletion of exons 1-3 in the remaining three families (n = 12), which was verified by quantitative real-time PCR analysis. Therefore, the large deletion accounted for 37.5% of the total families and 55% of our DRD population. The deletion appeared to have high penetrance and was associated with multifocal dystonia and adult onset in males. Adult-onset patients were commonly presenting with resting tremor, rigidity, and bradykinesia, indistinguishable from those in Parkinson's disease. In conclusion, a high frequency of multiexonic deletion of GCH1 was identified in the Taiwanese DRD population. By dosage analysis, we were able to detect a mutation in all patients. Our study demonstrates that dosage analysis is necessary for molecular diagnostics in DRD patients of Han Chinese ethnicity.
    Publisher: Wiley
    Publication Date: 2010
    Publication Name: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
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    Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2more
    by Yah-huei Wu-chou
    Publisher: Wiley
    Publication Date: 2002
    Publication Name: Movement Disorders
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    Somatic Genomic Defects And Tumor Progression In NF1-associated Tumors more
    by Yah-huei Wu-chou
    Background: Neurofibromatosis type 1 (NF1) is a common inherited tumor predisposition syndrome. Many genetic and biochemical evidences considered NF1 gene as a tumor suppressor gene that inactivation of both NF1 alleles would lead to... more
    Background: Neurofibromatosis type 1 (NF1) is a common inherited tumor predisposition syndrome. Many genetic and biochemical evidences considered NF1 gene as a tumor suppressor gene that inactivation of both NF1 alleles would lead to tumorigenesis. However, the clinical evaluation and early detection of malignant transformation from plexiform neurofibromas is often challenging. Methods: We used Affymetrix’s OncoScan FFPE Assay to record copy number gains and losses of common cancer genes in 24 NF1-associated tumors and compared with their NF1 mutation status. In addition, we carried out immunohistochemical studies of NF1, SUZ12 and H3K27me3 to evaluate gene expression in NF1-associated tumors to elucidate their potential roles during neurofibromatosis.Results: The most common Copy number alterations (CNAs) identified in this study were copy number loss (bi-allelic loss) of NF1 (N=8) and SUZ12 (N=7). Many concurrent alterations of both NF1 and SUZ12 were also observed in these NF1-as...
    Publication Date: 2021
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    Evidence for gene-environment interaction in a genome wide study of isolated, non-syndromic cleft palatemore
    by Yah-huei Wu-chou
    Corresponding author: Dr. T.H. Beaty, Dept of Epidemiology, School of Public Health, Johns Hopkins University, 615 N. Wolfe St, Baltimore MD, USA; tbeaty@jhsph.edu. Web Resources: Online Mendelian Inheritance in Man (OMIM),... more
    Corresponding author: Dr. T.H. Beaty, Dept of Epidemiology, School of Public Health, Johns Hopkins University, 615 N. Wolfe St, Baltimore MD, USA; tbeaty@jhsph.edu. Web Resources: Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ NIH Public Access Author Manuscript Genet Epidemiol. Author manuscript; available in PMC 2012 September 1. Published in final edited form as: Genet Epidemiol. 2011 September ; 35(6): 469–478. doi:10.1002/gepi.20595. N IH PA Athor M anscript N IH PA Athor M anscript N IH PA Athor M anscript Non-syndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international consortium. Family based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consum...
    Publication Date: 2011
    Research Interests:
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    Coding de novo mutations identified by WGS reveal novel orofacial cleft genesmore
    by Yah-huei Wu-chou
    While de novo mutations (DNMs) are known to increase risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defects. Therefore, whole-genome sequencing of 756... more
    While de novo mutations (DNMs) are known to increase risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defects. Therefore, whole-genome sequencing of 756 case-parent trios of European, Colombian, and Taiwanese ancestry was performed to determine the contributions of coding DNMs to OFC risk. Overall, we identified a significant excess of loss-of-function DNMs in genes highly expressed in craniofacial tissues, as well as genes associated with known autosomal dominant OFC syndromes. This analysis also revealed roles for zinc-finger homeobox domain and SOX2-interacting genes in OFC etiology.
    Publisher: Cold Spring Harbor Laboratory
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    Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysismore
    by Yah-huei Wu-chou
    Neurofibromatosis type 1 (NF1) is a dominantly inherited tumor predisposition syndrome that targets the peripheral nervous system. It is caused by mutations of the NF1 gene which serve as a negative regulator of the cellular Ras/MAPK... more
    Neurofibromatosis type 1 (NF1) is a dominantly inherited tumor predisposition syndrome that targets the peripheral nervous system. It is caused by mutations of the NF1 gene which serve as a negative regulator of the cellular Ras/MAPK (mitogen-activated protein kinases) signaling pathway. Owing to the complexity in some parts of clinical diagnoses and the need for better understanding of its molecular relationships, a genetic characterization of this disorder will be helpful in the clinical setting. In this study, we present a customized targeted gene panel of NF1/KRAS/BRAF/p53 and SPRED1 genes combined with Multiple Ligation-Dependent Probe Amplification analysis for the NF1 mutation screening in a cohort of patients clinically suspected as NF1. In this study, we identified 73 NF1 mutations and two BRAF novel variants from 100 NF1 patients who were suspected as having NF1. These genetic alterations are heterogeneous and distribute in a complicated way without clustering in either cy...
    Publication Date: Jan 5, 2018
    Publication Name: Journal of biomedical science
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    LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing studymore
    by Yah-huei Wu-chou
    Most patients with Parkinson's disease, Parkinson's disease dementia, and dementia with Lewy bodies do not carry mutations in known disease-causing genes. The aim of this study was to identify a novel gene implicated in the... more
    Most patients with Parkinson's disease, Parkinson's disease dementia, and dementia with Lewy bodies do not carry mutations in known disease-causing genes. The aim of this study was to identify a novel gene implicated in the development of these disorders. Our study was done in three stages. First, we did genome-wide linkage analysis of an Italian family with dominantly inherited Parkinson's disease to identify the disease locus. Second, we sequenced the candidate gene in an international multicentre series of unrelated probands who were diagnosed either clinically or pathologically with Parkinson's disease, Parkinson's disease dementia, or dementia with Lewy bodies. As a control, we used gene sequencing data from individuals with abdominal aortic aneurysms (who were not examined neurologically). Third, we enrolled an independent series of patients diagnosed clinically with Parkinson's disease and controls with no signs or family history of Parkinson's dis...
    Publication Date: 2018
    Publication Name: The Lancet. Neurology
    Research Interests:
    A comprehensive analysis of the association of common variants of ABCG2 with goutmore
    by Yah-huei Wu-chou
    Publisher: Springer Nature
    Publication Name: Scientific Reports
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    Differential expression of CD44 and CD24 markers discriminates the epitheliod from the fibroblastoid subset in a sarcomatoid renal carcinoma cell line: evidence suggesting the existence of cancer stem cells in both subsets as studied with sorted cellsmore
    by Yah-huei Wu-chou
    Epithelioid and fibroblastoid subsets coexist in the human sarcomatoid renal cell carcinoma (sRCC) cell line, RCC52, according to previous clonal studies. Herein, using monoclonal antibodies to CD44 and CD24 markers, we identified and... more
    Epithelioid and fibroblastoid subsets coexist in the human sarcomatoid renal cell carcinoma (sRCC) cell line, RCC52, according to previous clonal studies. Herein, using monoclonal antibodies to CD44 and CD24 markers, we identified and isolated these two populations, and showed that CD44bright/CD24dim and CD44bright/CD24bright phenotypes correspond to epithelioid and fibroblastoid subsets, respectively. Both sorted subsets displayed different levels of tumorigenicity in xenotransplantation, indicating that each harbored its own cancer stem cells (CSCs). The CD44bright/CD24bright subset, associated with higher expression of MMP-7, -8 and TIMP-1 transcripts, showed greater migratory/invasive potential than the CD44bright/CD24dim subset, which was associated with higher expression of MMP-2, -9 and TIMP-2 transcripts. Both subsets differentially expressed stemness gene products c-Myc, Oct4A, Notch1, Notch2 and Notch3, and the RCC stem cell marker, CD105 in 4-5% of RCC52 cells. These resu...
    Publication Date: Jan 28, 2017
    Publication Name: Oncotarget
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    Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese populationmore
    by Yah-huei Wu-chou
    Publisher: Springer Nature
    Publication Date: 2016
    Publication Name: BMC Medical Genetics
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    Increased Rab35 expression is a potential biomarker and implicated in the pathogenesis of Parkinson’s diseasemore
    by Yah-huei Wu-chou
    Publisher: Impact Journals, LLC
    Publication Date: 2014
    Publication Name: Oncotarget
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    Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiencymore
    by Yah-huei Wu-chou
    ECHS1 encodes a mitochondrial enzyme involved in the degradation of essential amino acids and fatty acids. Recently, ECHS1 mutations were shown to cause a new severe metabolic disorder presenting as Leigh or Leigh-like syndromes. The... more
    ECHS1 encodes a mitochondrial enzyme involved in the degradation of essential amino acids and fatty acids. Recently, ECHS1 mutations were shown to cause a new severe metabolic disorder presenting as Leigh or Leigh-like syndromes. The objective of this study was to describe a family with 2 siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations. Clinical evaluation, MRI imaging, genome-wide linkage, exome sequencing, urine metabolite profiling, and protein expression studies were performed. The first sibling is 17 years old and presents with generalized dystonia and severe bilateral pallidal MRI lesions after 1 episode of infantile subacute metabolic encephalopathy (Leigh-like syndrome). In contrast, the younger sibling (15 years old) only suffers from paroxysmal exercise-induced dystonia and has very mild pallidal MRI abnormalities. Both patients carry compound heterozygous ECHS1 mutations: c.232G>T (predicted protein effect: p.Glu78Ter) and ...
    Publication Date: Jul 19, 2016
    Publication Name: Movement disorders : official journal of the Movement Disorder Society
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    Oculopharyngeal muscular dystrophy--a genetically verified taiwanese familymore
    by Yah-huei Wu-chou
    Oculopharyngeal muscular dystrophy (OPMD) is a rare inherited muscular disorder, clinically characterized by late-onset, slowly progressive bilateral ptosis, dysphagia, and proximal limb weakness. A short polyalanine expansion in the... more
    Oculopharyngeal muscular dystrophy (OPMD) is a rare inherited muscular disorder, clinically characterized by late-onset, slowly progressive bilateral ptosis, dysphagia, and proximal limb weakness. A short polyalanine expansion in the polyadenylate binding-protein nuclear 1 (PABPN1) gene is a commonly reported mutation. We studied a large family with 12 affected members who inherited a dominant trait. Drooping of eye lids and dysphagia were characteristic phenotypes starting in the sixth decade. We collected blood samples from all available familial members and 30 control subjects. They were analyzed using modified polymerase chain reaction (PCR) amplification and direct sequence analysis. The abnormally extended three GCG resulting in heterozygous (GCG)9 of PABPN1 gene was identified in four affected and two asymptomatic carriers, but not in the 30 control individuals. The expansion of the PABPN1 polyalanine tract which resulted from 10 to 13 alanines was further confirmed by subclo...
    Publication Name: Chang Gung medical journal
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    Nuclear β-catenin expression is closely related to ulcerative growth of colorectal carcinomamore
    by Yah-huei Wu-chou
    Publication Date: 2002
    Publication Name: British Journal of Cancer
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    Clinical and genetic studies on familial parkinsonism: The first report on a parkin gene mutation in a Taiwanese familymore
    by Yah-huei Wu-chou
    Early-onset parkinsonism with an onset before age 40 is quite hetereogenous in clinical, genetic, and pathologic aspects. Autosomal recessive juvenile parkinsonism (ARJP) is recognized as a distinct clinical entity characterized by early... more
    Early-onset parkinsonism with an onset before age 40 is quite hetereogenous in clinical, genetic, and pathologic aspects. Autosomal recessive juvenile parkinsonism (ARJP) is recognized as a distinct clinical entity characterized by early onset, sleep benefit, remarkable response to levodopa, and dopainduced dyskinesia. 1,2 The majority of the affected individuals reported in Japan are offspring of consanguineous marriages. Pathologic findings from several reports are also distinct in selective degeneration of nigral dopaminergic neurons without Lewy bodies. 3 Recently, the gene locus for ARJP was mapped to chromosome 6q25.2-q27, 4,5 and subsequently, a large gene termed parkin consisting of 12 exons was firstly identified in Japanese families. 6 There were several kinds of homozygous intragenic deletional mutations in the parkin gene found in Japanese families of ARJP. 7 Reports of exonic deletions were also described in other ethnic groups. 8–10 Other than exonic deletions, point mutations in exons 6 and 8 were further detected in Turkish families. 11 It is also interesting that a wide variety of point mutations rather than deletions have been reported to be more frequently responsible for this disease in Europe. 12 The high incidence of familial occurrence of earlyonset parkinsonism was also found among Chinese in Taiwan, in that 16% of the patients reported by Tsai et al. 13 had the age of onset below 40, and 37.5% below 20. Here we report a deletional mutation of exon 3 in parkin gene in two affected sibs of early onset parkinsonism from one autosomal recessive Taiwanese family.
    Publisher: Wiley
    Publication Date: 2001
    Publication Name: Movement Disorders
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    Familial paroxysmal nonkinesigenic dyskinesia: Clinical and genetic analysis of a Taiwanese familymore
    by Yah-huei Wu-chou
    Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder in autosomal dominant inheritance. The clinical features and genetic findings of PNKD, rarely described in the Asians, were mostly delineated from European families. The... more
    Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder in autosomal dominant inheritance. The clinical features and genetic findings of PNKD, rarely described in the Asians, were mostly delineated from European families. The present study characterized the clinical and genetic findings of a Taiwanese PNKD family. The clinical features of our five patients in successive three generations included onset age less than 10 years, attack duration between 3 min and 4h, and a variety of aura symptoms. The attacks were provoked not by sudden action but by emotional stress, caffeine, fatigue, heavy exercise and sleep deprivation. Sleep could abolish or diminish the attack and the attacks responded well to clonazepam. Sequencing the whole coding region of PNKD/MR-1 gene identified a heterozygous c.20 C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients. Comparing our patients with previously reported 18 families with PNKD/MR-1 mutations, the majority of the patients exhibited quite similar manifestations in attack patterns and precipitating factors. The recurrent conservative mutations in different ethnicities indicate importance in the pathogenesis of PNKD.
    Publisher: Elsevier BV
    Publication Date: 2012
    Publication Name: Journal of the Neurological Sciences
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    PINK1 mutation in Taiwanese early-onset parkinsonismmore
    by Yah-huei Wu-chou
    Publisher: Springer Nature
    Publication Date: 2007
    Publication Name: Journal of Neurology
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    A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndromemore
    by Yah-huei Wu-chou
    Publisher: Wiley
    Publication Date: 2009
    Publication Name: European Journal of Neurology
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    Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformationsmore
    by Yah-huei Wu-chou
    Publisher: Springer Nature
    Publication Date: 2013
    Publication Name: European Journal of Human Genetics
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    A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial cleftsmore
    by Yah-huei Wu-chou
    Publisher: Springer Nature
    Publication Date: 2013
    Publication Name: BMC Medical Genetics
    Research Interests:
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