黃道揚 助研究員級主治醫師-論文

  1. Lee JJ, Cheng SJ, Huang CY, Chen CY, Feng L, Hwang DY, Kamp TJ, Chen HC, Hsieh PCH. Primary cardiac manifestation of autosomal dominant polycystic kidney disease revealed by patient induced pluripotent stem cell-derived cardiomyocytes. EBioMedicine. 2019; 40:675-84 (IF: 6.183)
  2. Tsai MH, Chan CK, Chang YC, Lin CH, Liou CW, Chang WN, Ng CC, Lim KS, Hwang DY. Molecular genetic characterization of patients with focal epilepsy using a customized targeted resequencing gene panel. Front Neurol. 2018;9:515 (IF:3.552; Co-corresponding author)
  3. Yu PH, Kuo YR, Altmüller J, Hwang DY. Senior-Løken syndrome with IQCB1 mutation in Taiwan. Kaohsiung J Med Sci. 2018 (In press; IF:1.15; Corresponding author)
  4. Zhao X, Hwang DY, Kao HY. The Role of Glucocorticoid Receptors in Podocytes and Nephrotic Syndrome. Nucl Receptor Res. 2018;5:101323
  5. van der Ven AT, Kobbe B, Kohl S, Shril S, Pogoda HM, Imhof T, Ityel H, Vivante A, Chen J, Hwang DY, Connaughton DM, Mann N, Widmeier E, Taglienti M, Schmidt JM, Nakayama M, Senguttuvan P, Kumar S, Tasic V, Kehinde EO, Mane SM, Lifton RP, Soliman N, Lu W, Bauer SB, Hammerschmidt M, Wagener R, Hildebrandt F. A homozygous missense mutation in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesico-ureteral reflux. PLoS ONE. 2018;13(1):e0191224. (IF:2.806)
  6. Ho MC, Huang CY, Lee JJ, Hsu SH, Cheng YC, Hsu YH, Hwang DY, Lu HE, Chen HC, Hsieh PCH. Generation of an induced pluripotent stem cell line, IBMS-iPSC-014-05, from a female autosomal dominant polycystic kidney disease patient carrying a common mutation of R803X in PKD2. Stem Cell Res. 2017;25:38-41. (IF: 3.494)
  7. Lee JJ, Ho MC, Huang CY, Wen CH, Cheng YC, Hsu YH, Hwang DY, Lu HE, Chen HC, Hsieh PCH. Induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient carrying a PKD1 Q533X mutation. Stem Cell Res. 2017;25:83-87. (IF: 3.494)
  8. Huang CY, Ho MC, Lee JJ, Hwang DY, Ko HW, Cheng YC, Hsu YH, Lu HE, Chen HC, Hsieh PCH. Generation of induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient with a p.Ser1457fs mutation in PKD1. Stem Cell Res. 2017;24:139-143. (IF: 3.494)
  9. van der Ven AT, Shril S, Ityel H, Vivante A, Chen J, Hwang DY, Laricchia KM, Lek M, Tasic V, Hildebrandt F. Whole-exome sequencing reveals FAT4 mutations in a clinically unrecognizable patient with syndromic CAKUT: a case report. Mol Syndromol. 2017;8(5):272-277.
  10. Hung CC, Lin HY, Hwang DY, Kuo IC, Chiu YW, Lim LM, Hwang SJ, Chen HC. Diabetic retinopathy and clinical parameters favoring the presence of diabetic nephropathy could predict renal outcome in patients with diabetic kidney disease. Sci Rep, 2017;7(1):1236. (IF:4.259)
  11. Tsai MH, Chan CK, Chang YC, Yu YT, Chuang ST, Fan WL, Li SC, Fu TY, Chang WN, Chuang YC, Ng CC, Hwang DY, Lim KS. DEPDC5 mutations in familial and sporadic focal epilepsy. Clin Genet, 2017:92(4):397-404. (IF: 3.326; Co-corresponding author)
  12. Chuang LL, Hwang DY, Tsai KB, Chan HM, Chiang FY, Hsiao PJ. A cohort study on 10-year survival of sporadic medullary thyroid carcinoma with somatic RET mutation. Kaohsiung J Med Sci. 2016;32(11):545-551. (IF:1.15)
  13. Lim LM, Tsai NC, Lin MY, Hwang DY, Lin HY, Lee JJ, Hwang SJ, Hung CC, Chen HC. Hyponatremia is Associated with fluid imbalance and adverse renal outcome in chronic kidney disease patients treated with diuretics. Sci Rep, 2016;6: 36817. (IF:4.259)
  14. Lin HC, Hwang DY, Lim KH. Targeted re-sequencing of TET2 in Taiwanese patients with myelodysplastic/myeloproliferative neoplasms. Med Oncol, 2016;33(8):92. (IF: 2.634)
  15. Vivante A, Hwang DY, Kohl S, Chen J, Shril S, Schulz J, van der Ven A, Daouk G, Soliman NA, Kumar AS, Senguttuvan P, Kehinde EO, Tasic V, Hildebrandt F. Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract. J Am Soc Nephrol. 2017;28(1):69-75. (IF: 8.966)
  16. Kuo IC, Lin HY, Niu SW, Hwang DY, Lee JJ, Tsai JC, Hung CC, Hwang SJ, Chen HC. Glycated hemoglobin and outcomes in patients with advanced diabetic chronic kidney disease. Sci Rep. 2016;6:20028. (IF:4.259)
  17. Kohl S, Chen J, Vivante A, Hwang DY, Shril S, Dworschak GC, Van Der Ven A, Sanna-Cherchi S, Bauer SB, Lee RS, Soliman NA, Kehinde EO, Reutter HM, Tasic V, Hildebrandt F. Targeted sequencing of 96 renal developmental microRNAs in 1,213 individuals from 980 families with congenital anomalies of the kidney and urinary tract (CAKUT). Nephrol Dial Transplant. 2016;31(8):1280-3 (IF: 4.47)
  18. Lin HYH, Yen CY, Lim LM, Hwang DY, Tsai JC, Hwang SJ, Hung CC, Chen HC. Microscopic haematuria and clinical outcomes in patients with stage 3-5 nondiabetic chronic kidney disease. Sci Rep. 2015;5:15242. (IF:4.259)
  19. Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang DY, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, Reutter H, Hildebrandt F. Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association. Hum Mutat. 2015;36(12):1150-4 (IF: 4.601)
  20. Lim LM, Zhao X, Chao MC, Chang JM, Chang WC, Kao HY, Hwang DY, Chen HC. Novel vitamin D receptor mutations in hereditary vitamin D resistant rickets in Chinese. PLoS One. 2015;10(9):e0138152. (IF:2.806; Corresponding author)
  21. Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Jüppner H, Kispert A, Hildebrandt F. Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development. Am J Hum Genet. 2015;97(2):291-301. (IF: 9.025)
  22. Hwang DY, Kohl S, Fan X, Vivante A, Chan S, Dworschak GC, Schulz J, van Eerde AM, Hilger AC, Gee HY, Pennimpede T, Herrmann BG, van de Hoek G, Renkema KY, Schell C, Huber TB, Reutter HM, Soliman NA, Stajic N, Bogdanovic R, Kehinde EO, Lifton RP, Tasic V, Lu W, Hildebrandt F. Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. Hum Genet. 2015;134(8):905-16. (IF: 4.637)
  23. Lin HYH, Hwang DY, Lee SC, Kuo HT, Kuo MC, Chang JM, Tsai JC, Hung CC, Hwang SJ, Chen HC. Urinary neutrophil gelatinase-associated lipocalin and clinical outcomes in chronic kidney disease patients. Clin Chem Lab Med. 2015;53(1):73-83. (IF: 3.432)
  24. Tung SC, Hwang DY, Yang JW, Ng HY, Lee CT. Heterogeneous clinical manifestations of Cushing’s syndrome in a family with primary pigmented nodular adrenocortical disease. J Steroids Horm Sci. 2014, 5:4.
  25. Kohl S, Hwang DY, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F. Mild recessive mutations in six Fraser syndrome-related genes cause isolated CAKUT. J Am Soc Nephrol. 2014;25:1917–1922. (IF: 8.966; Co-first author)
  26. Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int. 2014;85,1429–1433. (IF: 8.395)
  27. Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa DS, Stajić N, Bogdanovic R, de Blaauw I, Marcelis CL, Wijers CH, Bartels E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Ludwig M, Nöthen MM, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann BG, Solomon BD, de Klein A, van Rooij IA, Esposito F, Reutter HM, Hildebrandt F. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney Int. 2014;85,1310–1317. (IF: 8.395)
  28. Yen JH, Chang CM, Hsu YW, Lee CH, Wu MS, Hwang DY, Chen BK, Liao HY, Wu MT, Chang WC. A Polymorphism of ORAI1 rs7135617, Is Associated with susceptibility to rheumatoid arthritis. Mediators Inflamm. 2014;2014:834831.
  29. Wu YL, Hwang DY, Hsiao HP, Ting WH, Huang CY, Tsai WY, Chen HC, Chao MC, Lo FS, Tsai JD, Yang S, Shih SL, Lin SP, Lin CL, Lee YJ. Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese. PLoS One. 2014;9(3):e90640.(IF:2.806; Co-first author)
  30. Hwang DY, Chien SC, Hsu YW, Kao CC, Cheng SY, Lu HC, Wu MS, Chang JM. Genetic polymorphisms of ORAI1 and chronic kidney disease in Taiwanese population. Biomed Res Int. 2014;2014:290863. (IF: 2.476)
  31. Vivante A, Kohl S, Hwang DY, Dworschak GC, Hildebrandt F. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr Nephrol. 2014;29(4):695-704. (IF:2.516)
  32. Wang YK, Hwang DY, Wang SS, Hwang SJ, Chen LT, Kuo MC. Terlipressin-induced hyponatremic encephalopathy in a noncirrhotic patient. Kaohsiung J Med Sci. 2013;29(12):691-4. (IF: 1.15)
  33. Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O’Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt. Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia. Am J Hum Genet. 2013;93(4):672-86. (IF: 9.025)
  34. Lim LM, Chang JM, Wang IF, Chang WC, Hwang DY, Chen HC. Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient. BMC Pediatrics, 2013;13:150. (IF: 2.071; Corresponding author)
  35. Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet. 2013;93(2):336-45. (IF: 9.025)
  36. Wang HH, Hung CC, Hwang DY, Kuo MC, Chiu YW, Chang JM, Tsai JC, Hwang SJ, Seifter JL, Chen HC. Hypokalemia, its contributing factors and renal outcomes in patients with chronic kidney disease. PLoS ONE. 2013;8(7):e67140. (IF:2.806)
  37. Lin HYH, Lee SC, Lin SF, Hsiao HH, Liu YC, Yang WC, Hwang DY, Hung CC, Chen HC, Guh JY. Urinary neutrophil gelatinase-associated lipocalin levels predict cisplatin-induced acute kidney injury better than albuminuria or urinary cystatin C levels. Kaohsiung J Med Sci. 2013;29,304-11. (IF: 1.15)
  38. Chang JM, Hwang DY, Chen SC, Kuo MC, Hung CC, Hwang SJ, Tsai JC, Chen HC. B7-1 expression regulates the hypoxia-driven cytoskeleton rearrangement in glomerular podocytes. Am J Physiol Renal Physiol. 2013;304(1):F127-36. (IF:3.611)
  39. Chang WC, Woon PY, Wei JC, Chang CM, Hsu YW, Guo YC, Hwang DY, Kochi Y, Yen JH. A single-nucleotide polymorphism of CCR6 (rs3093024) is associated with susceptibility to rheumatoid arthritis but not ankylosing spondylitis, in a Taiwanese population. J Rheumatol. 2012;39(8):1765-6. (IF: 3.15)
  40. Huang JC, Kuo MC, Hwang SJ, Hwang DY, Chen HC. Vitamin D-Mediated Hypercalcemia as the Initial Manifestation of Pulmonary Cryptococcosis in an HIV-uninfected Patient. Intern Med 2012;51:1793-6. (IF:0.815)
  41. Tseng MH, Yang SS, Hsu YJ, Fang YW, Wu CJ, Tsai JD, Hwang DY, Lin SH. Genotype, Phenotype, and Follow-Up in Taiwanese Patients with Salt-Losing Tubulopathy Associated with SLC12A3 Mutation. J Clin Endocrinol Metab. 2012;97(8):E1478-82. (IF: 5.455)
  42. Tung SC, Hwang DY, Yang JW, Chen WJ, Lee CT. An unusual presentation of Carney complex with diffuse primary pigmented nodular adrenocortical disease on one adrenal gland and a nonpigmented adrenocortical adenoma and focal primary pigmented nodular adrenocortical disease on the other. Endocr J. 2012;59(9):823-30. (IF:1.837)
  43. Hwang DY, Hung CC, Riepe FG, Auchus RJ, Kulle AE, Holterhus PM, Chao MC, Kuo MC, Hwang SJ, Chen HC. CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency. PLoS One. 2011;6(9):e25492. (IF:2.806)
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