Publications by authors named "Heon Yung Gee"

88Publications

PLCE1 regulates the migration, proliferation, and differentiation of podocytes.

Exp Mol Med 2020 Apr 1;52(4):594-603. Epub 2020 Apr 1.

Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, 03722, Korea.

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http://dx.doi.org/10.1038/s12276-020-0410-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7210307PMC
April 2020

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review.

Autoimmun Rev 2020 Jun 29;19(6):102526. Epub 2020 Mar 29.

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.autrev.2020.102526DOI Listing
June 2020

Grasp55 mice display impaired fat absorption and resistance to high-fat diet-induced obesity.

Nat Commun 2020 03 17;11(1):1418. Epub 2020 Mar 17.

Department of Pharmacology, Brain Korea 21 Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, 03722, Korea.

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http://dx.doi.org/10.1038/s41467-020-14912-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078302PMC
March 2020

Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation.

Biomolecules 2020 03 13;10(3). Epub 2020 Mar 13.

Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul 03722, Korea.

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http://dx.doi.org/10.3390/biom10030449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175297PMC
March 2020

The incidence rates and risk factors of Parkinson disease in patients with psoriasis: A nationwide population-based cohort study.

J Am Acad Dermatol 2019 Jul 12. Epub 2019 Jul 12.

Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2019.07.012DOI Listing
July 2019

Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation.

Ear Hear 2020 Jan/Feb;41(1):114-124

Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1097/AUD.0000000000000734DOI Listing
May 2019

The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report.

BMC Med Genet 2019 04 1;20(1):57. Epub 2019 Apr 1.

Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea.

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http://dx.doi.org/10.1186/s12881-019-0775-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444877PMC
April 2019

Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.

Sci Rep 2019 03 14;9(1):4583. Epub 2019 Mar 14.

Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, 03722, Korea.

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http://dx.doi.org/10.1038/s41598-019-41068-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418148PMC
March 2019

A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.

Hum Mutat 2019 03 25;40(3):335-346. Epub 2018 Dec 25.

Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, 03722, Korea.

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http://dx.doi.org/10.1002/humu.23698DOI Listing
March 2019

Specific autophagy and ESCRT components participate in the unconventional secretion of CFTR.

Autophagy 2018 31;14(10):1761-1778. Epub 2018 Jul 31.

a Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Severance Biomedical Science Institute , Yonsei University College of Medicine , Seoul , Korea.

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http://dx.doi.org/10.1080/15548627.2018.1489479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6135621PMC
October 2019

Unconventional protein secretion - new insights into the pathogenesis and therapeutic targets of human diseases.

J Cell Sci 2018 06 25;131(12). Epub 2018 Jun 25.

Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul 120-752, Korea

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http://dx.doi.org/10.1242/jcs.213686DOI Listing
June 2018

A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction.

Eur J Med Genet 2019 Jan 22;62(1):81-84. Epub 2018 May 22.

Department of Otorhinolaryngology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173076
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http://dx.doi.org/10.1016/j.ejmg.2018.05.018DOI Listing
January 2019

Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discovery.

Atherosclerosis 2018 06 12;273:21-27. Epub 2018 Apr 12.

Cardiovascular Research Institute, Yonsei University College of Medicine, Seoul, South Korea; Division of Cardiology, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2018.04.011DOI Listing
June 2018

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

PLoS Genet 2018 03 30;14(3):e1007316. Epub 2018 Mar 30.

Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1371/journal.pgen.1007316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895051PMC
March 2018

Unconventional secretion of transmembrane proteins.

Semin Cell Dev Biol 2018 11 28;83:59-66. Epub 2018 Mar 28.

Department of Pharmacology, Brain Korea21 Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.semcdb.2018.03.016DOI Listing
November 2018

Recent advances of animal model of focal segmental glomerulosclerosis.

Clin Exp Nephrol 2018 Aug 20;22(4):752-763. Epub 2018 Mar 20.

Department of Pediatrics, Yonsei University College of Medicine, 50 Yonsei-Ro, Seodaemun-gu, Seoul, 120-752, Republic of Korea.

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http://dx.doi.org/10.1007/s10157-018-1552-8DOI Listing
August 2018

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.

BMC Med Genet 2017 12 19;18(1):151. Epub 2017 Dec 19.

Department of Otorhinolaryngology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, 03722, South Korea.

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http://dx.doi.org/10.1186/s12881-017-0511-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735594PMC
December 2017

Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.

JAMA Ophthalmol 2017 12;135(12):1376-1385

Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1001/jamaophthalmol.2017.4859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6583550PMC
December 2017

A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinoma.

Cell Biol Int 2018 Mar 15;42(3):303-312. Epub 2017 Nov 15.

Department of Biomedical Sciences, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.

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http://dx.doi.org/10.1002/cbin.10895DOI Listing
March 2018

ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer.

Br J Cancer 2017 Dec 12;117(12):1798-1809. Epub 2017 Oct 12.

Department of Pharmacology and Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, 50-1, Yonsei-Ro, Seodaemun-Gu, Seoul 03722, Korea.

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http://dx.doi.org/10.1038/bjc.2017.355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729472PMC
December 2017

Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy.

Sci Rep 2017 08 22;7(1):9146. Epub 2017 Aug 22.

The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1038/s41598-017-09629-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567297PMC
August 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.

Investig Clin Urol 2017 06 7;58(Suppl 1):S4-S13. Epub 2017 Jun 7.

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.4111/icu.2017.58.S1.S4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468264PMC
June 2017

Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013).

Sci Rep 2017 06 5;7(1):2804. Epub 2017 Jun 5.

Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1038/s41598-017-03134-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5459855PMC
June 2017

Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population.

Sci Rep 2017 04 6;7:45973. Epub 2017 Apr 6.

Department of Otorhinolaryngology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul 03722, Korea.

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http://dx.doi.org/10.1038/srep45973DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382691PMC
April 2017

Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.

Sci Rep 2016 06 3;6:26872. Epub 2016 Jun 3.

Department of Pharmacology, Tissue Injury Defense Research Center, School of Medicine, Ewha Womans University, Seoul, Korea.

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http://dx.doi.org/10.1038/srep26872DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891722PMC
June 2016

Mutations in SLC26A1 Cause Nephrolithiasis.

Am J Hum Genet 2016 06 19;98(6):1228-1234. Epub 2016 May 19.

Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908148PMC
June 2016

The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion.

Nat Commun 2016 04 25;7:11386. Epub 2016 Apr 25.

Department of Pharmacology and Brain Korea 21 Project for Medical Sciences, Yonsei University College of Medicine, Seoul 120-752, Republic of Korea.

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http://dx.doi.org/10.1038/ncomms11386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4848490PMC
April 2016

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

J Med Genet 2016 Mar 16;53(3):208-14. Epub 2015 Dec 16.

Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5057575PMC
http://dx.doi.org/10.1136/jmedgenet-2015-103304DOI Listing
March 2016

Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.

J Am Soc Nephrol 2016 Apr 11;27(4):1066-75. Epub 2015 Aug 11.

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan;

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http://dx.doi.org/10.1681/ASN.2014121197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4814174PMC
April 2016

Analysis of conventional and unconventional trafficking of CFTR and other membrane proteins.

Methods Mol Biol 2015 ;1270:137-54

Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, 134 Sinchon-Dong, Seoul, 120-752, Korea.

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http://dx.doi.org/10.1007/978-1-4939-2309-0_11DOI Listing
November 2015

Mutations in EMP2 cause childhood-onset nephrotic syndrome.

Am J Hum Genet 2014 Jun 8;94(6):884-90. Epub 2014 May 8.

Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121470PMC
June 2014

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

Clin J Am Soc Nephrol 2014 Jun 17;9(6):1109-16. Epub 2014 Apr 17.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland

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http://dx.doi.org/10.2215/CJN.09010813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046728PMC
June 2014

Shank2 mutant mice display a hypersecretory response to cholera toxin.

J Physiol 2014 Apr 20;592(8):1809-21. Epub 2014 Jan 20.

Department of Pharmacology, Yonsei University College of Medicine, 134 Sinchon-Dong, Seoul 120-752, Korea.

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http://dx.doi.org/10.1113/jphysiol.2013.268631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001754PMC
April 2014

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Cell 2012 Aug;150(3):533-48

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.cell.2012.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433835PMC
August 2012

Misexpression screen delineates novel genes controlling Drosophila lifespan.

Mech Ageing Dev 2012 May 24;133(5):234-45. Epub 2012 Feb 24.

Department of Physiology, College of Medicine, Korea University, 126-1 Anam-Dong 5 Ga, Seongbuk-Gu, Seoul 136-705, Republic of Korea.

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http://dx.doi.org/10.1016/j.mad.2012.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359393PMC
May 2012

A small molecule that binds to an ATPase domain of Hsc70 promotes membrane trafficking of mutant cystic fibrosis transmembrane conductance regulator.

J Am Chem Soc 2011 Dec 22;133(50):20267-76. Epub 2011 Nov 22.

Center for Biofunctional Molecules, Department of Chemistry, Yonsei University, Seoul 120-749, Korea.

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http://dx.doi.org/10.1021/ja206762pDOI Listing
December 2011

Rescue of ΔF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway.

Cell 2011 Sep;146(5):746-60

Department of Pharmacology, Brain Korea 21 Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul 120-752, Korea.

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http://dx.doi.org/10.1016/j.cell.2011.07.021DOI Listing
September 2011

A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children.

J Allergy Clin Immunol 2011 Dec 12;128(6):1326-1334.e3. Epub 2011 Aug 12.

Department of Pharmacology, Pharmacogenomic Research Center for Membrane Transporters, Yonsei University College of Medicine, Seoul, Korea.

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http://linkinghub.elsevier.com/retrieve/pii/S009167491101058
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http://dx.doi.org/10.1016/j.jaci.2011.06.036DOI Listing
December 2011

The cystic fibrosis transmembrane conductance regulator's expanding SNARE interactome.

Traffic 2011 Apr 8;12(4):364-71. Epub 2011 Feb 8.

Department of Biochemistry, Yong Loo Lin School of Medicine, National University Health System, National University of Singapore, 8 Medical Drive, Singapore 117597, Singapore.

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http://dx.doi.org/10.1111/j.1600-0854.2011.01161.xDOI Listing
April 2011

Syntaxin 16 binds to cystic fibrosis transmembrane conductance regulator and regulates its membrane trafficking in epithelial cells.

J Biol Chem 2010 Nov 8;285(46):35519-27. Epub 2010 Sep 8.

Department of Pharmacology, Institute of Gastroenterology, and Brain Korea 21 Project for Medical Sciences, Yonsei University College of Medicine, Seoul 120-752, Korea.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M110.162438
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http://dx.doi.org/10.1074/jbc.M110.162438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2975176PMC
November 2010

The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis.

J Korean Med Sci 2010 Jan 26;25(1):166-71. Epub 2009 Dec 26.

Department of Pharmacology, Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2010.25.1.166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800016PMC
January 2010

Synaptic scaffolding molecule binds to and regulates vasoactive intestinal polypeptide type-1 receptor in epithelial cells.

Gastroenterology 2009 Aug;137(2):607-17, 617.e1-4

Department of Pharmacology and Brain Korea 21 Project for Medical Science, Institute of Gastroenterology, Yonsei University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1053/j.gastro.2009.01.065DOI Listing
August 2009

PDZ-based adaptor proteins in epithelial anion transport and VIP receptor regulation.

J Med Invest 2009 ;56 Suppl:302-5

Department of Pharmacology and Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.2152/jmi.56.302DOI Listing
June 2010