Lisa M. Guay-Woodford - Publications

Affiliations: 
Cell Biology University of Alabama, Birmingham, Birmingham, AL, United States 
Area:
Genetics, Cell Biology

140 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Elliott MD, Vena N, Marasa M, Cocchi E, Bheda S, Bogyo K, Shang N, Zanoni F, Verbitsky M, Wang C, Kolupaeva V, Jin G, Sofer M, Gras Pena R, Canetta PA, ... ... Guay-Woodford LM, et al. Increased risk of kidney failure in patients with genetic kidney disorders. The Journal of Clinical Investigation. 134. PMID 39225089 DOI: 10.1172/JCI178573  0.358
2023 Harafuji N, Yang C, Wu M, Thiruvengadam G, Gordish-Dressman H, Thompson RG, Bell PD, Rosenberg AZ, Dafinger C, Liebau MC, Bebok Z, Caldovic L, Guay-Woodford LM. Differential regulation of MYC expression by in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease. Frontiers in Cell and Developmental Biology. 11: 1270980. PMID 38125876 DOI: 10.3389/fcell.2023.1270980  0.455
2023 Botero-Calderon L, Lawrence A, O'Toole N, Guay-Woodford LM. Fetal renal cystic disease and post-natal follow up-a single center experience. Frontiers in Pediatrics. 11: 1243504. PMID 37635794 DOI: 10.3389/fped.2023.1243504  0.379
2023 Yang C, Harafuji N, Caldovic L, Yu W, Boddu R, Bhattacharya S, Barseghyan H, Gordish-Dressman H, Foreman O, Bebok Z, Eicher EM, Guay-Woodford LM. Pkhd1 mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease. Journal of Molecular Medicine (Berlin, Germany). 101: 1141-1151. PMID 37584738 DOI: 10.1007/s00109-023-02351-2  0.767
2023 Zhang YJ, Yang C, Wang W, Harafuji N, Stasiak P, Bell PD, Caldovic L, Sztul E, Guay-Woodford LM, Bebok Z. Cystin is required for maintaining fibrocystin (FPC) levels and safeguarding proteome integrity in mouse renal epithelial cells: A mechanistic connection between the kidney defects in cpk mice and human ARPKD: A mechanistic connection between the kidney defects in cpk mice and human ARPKD. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 37: e23008. PMID 37318790 DOI: 10.1096/fj.202300100R  0.401
2023 Mekahli D, Liebau MC, Cadnapaphornchai MA, Goldstein SL, Greenbaum LA, Litwin M, Seeman T, Schaefer F, Guay-Woodford LM. Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease. Bmc Nephrology. 24: 33. PMID 36782137 DOI: 10.1186/s12882-023-03072-x  0.35
2023 Mekahli D, Guay-Woodford LM, Cadnapaphornchai MA, Greenbaum LA, Litwin M, Seeman T, Dandurand A, Shi L, Sikes K, Shoaf SE, Schaefer F. Tolvaptan for Children and Adolescents with Autosomal Dominant Polycystic Kidney Disease: Randomized Controlled Trial. Clinical Journal of the American Society of Nephrology : Cjasn. 18: 36-46. PMID 36719158 DOI: 10.2215/CJN.0000000000000022  0.327
2023 Wu M, Harafuji N, O'Connor AK, Caldovic L, Guay-Woodford LM. Transcription factor Ap2b regulates the mouse autosomal recessive polycystic kidney disease genes, and . Frontiers in Molecular Biosciences. 9: 946344. PMID 36710876 DOI: 10.3389/fmolb.2022.946344  0.432
2022 Oberdhan D, Schaefer F, Cole JC, Palsgrove AC, Dandurand A, Guay-Woodford L. Polycystic Kidney Disease-Related Disease Burden in Adolescents With Autosomal Dominant Polycystic Kidney Disease: An International Qualitative Study. Kidney Medicine. 4: 100415. PMID 35386599 DOI: 10.1016/j.xkme.2022.100415  0.305
2021 Yang C, Harafuji N, O'Connor AK, Kesterson RA, Watts JA, Majmundar AJ, Braun DA, Lek M, Laricchia KM, Fathy HM, Mane S, Shril S, Hildebrandt F, Guay-Woodford LM. Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. Scientific Reports. 11: 18274. PMID 34521872 DOI: 10.1038/s41598-021-97046-4  0.496
2021 Islam S, Tekman M, Flanagan SE, Guay-Woodford L, Hussain K, Ellard S, Kleta R, Bockenhauer D, Stanescu H, Iancu D. Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD). Molecular Genetics & Genomic Medicine. e1674. PMID 33811480 DOI: 10.1002/mgg3.1674  0.395
2019 O'Shaughnessy MM, Troost JP, Bomback AS, Hladunewich MA, Ashoor IF, Gibson KL, Matar RB, Selewski DT, Srivastava T, Rheault MN, Al-Uzri A, Kogon AJ, Khalid M, Vento S, Sanghani NS, ... ... Guay-Woodford L, et al. Treatment Patterns Among Adults and Children With Membranous Nephropathy in the Cure Glomerulonephropathy Network (CureGN). Kidney International Reports. 4: 1725-1734. PMID 31844809 DOI: 10.1016/J.Ekir.2019.09.005  0.324
2019 De Rechter S, Bockenhauer D, Guay-Woodford LM, Liu I, Mallett AJ, Soliman NA, Sylvestre LC, Schaefer F, Liebau MC, Mekahli D. ADPedKD: A Global Online Platform on the Management of Children With ADPKD. Kidney International Reports. 4: 1271-1284. PMID 31517146 DOI: 10.1016/J.Ekir.2019.05.015  0.423
2019 Canetta PA, Troost JP, Mahoney S, Kogon AJ, Carlozzi N, Bartosh SM, Cai Y, Davis TK, Fernandez H, Fornoni A, Gbadegesin RA, Herreshoff E, Mahan JD, Nachman PH, Selewski DT, ... ... Guay-Woodford LM, et al. Health-related quality of life in glomerular disease. Kidney International. PMID 30898342 DOI: 10.1016/J.Kint.2018.12.018  0.349
2019 Shan D, Rezonzew G, Mullen S, Roye R, Zhou J, Chumley P, Revell DZ, Challa AK, Kim H, Lockhart ME, Schoeb TR, Croyle MJ, Kesterson RA, Yoder BK, Guay-Woodford LM, et al. Heterozygous Pkhd1 mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney. American Journal of Physiology. Renal Physiology. PMID 30600684 DOI: 10.1152/Ajprenal.00181.2018  0.506
2018 Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Polycystic kidney disease. Nature Reviews. Disease Primers. 4: 50. PMID 30523303 DOI: 10.1038/s41572-018-0047-y  0.452
2018 Selewski DT, Ambruzs JM, Appel GB, Bomback AS, Matar RB, Cai Y, Cattran DC, Chishti AS, D'Agati VD, D'Alessandri-Silva CJ, Gbadegesin RA, Hogan JJ, Iragorri S, Jennette JC, Julian BA, ... ... Guay-Woodford LM, et al. Clinical Characteristics and Treatment Patterns of Children and Adults With IgA Nephropathy or IgA Vasculitis: Findings From the CureGN Study. Kidney International Reports. 3: 1373-1384. PMID 30450464 DOI: 10.1016/J.Ekir.2018.07.021  0.32
2018 Mariani LH, Bomback AS, Canetta PA, Flessner MF, Helmuth M, Hladunewich MA, Hogan JJ, Kiryluk K, Nachman PH, Nast CC, Rheault MN, Rizk DV, Trachtman H, Wenderfer SE, Bowers C, ... ... Guay-Woodford LM, et al. CureGN Study Rationale, Design, and Methods: Establishing a Large Prospective Observational Study of Glomerular Disease. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. PMID 30420158 DOI: 10.1053/J.Ajkd.2018.07.020  0.438
2017 Aymé S, Bockenhauer D, Day S, Devuyst O, Guay-Woodford LM, Ingelfinger JR, Klein JB, Knoers NVAM, Perrone RD, Roberts J, Schaefer F, Torres VE, Cheung M, Wheeler DC, Winkelmayer WC, et al. Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International. 92: 796-808. PMID 28938953 DOI: 10.1016/J.Kint.2017.06.018  0.5
2017 Kaimori JY, Lin CC, Outeda P, Garcia-Gonzalez MA, Menezes LF, Hartung EA, Li A, Wu G, Fujita H, Sato Y, Nakanuma Y, Yamamoto S, Ichimaru N, Takahara S, Isaka Y, ... ... Guay-Woodford LM, et al. NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology. Scientific Reports. 7: 7733. PMID 28798345 DOI: 10.1038/S41598-017-08284-4  0.485
2017 Hartung EA, Guay-Woodford LM. Polycystic kidney disease: DZIP1L defines a new functional zip code for autosomal recessive PKD. Nature Reviews. Nephrology. PMID 28736432 DOI: 10.1038/Nrneph.2017.102  0.516
2017 Alzarka B, Morizono H, Bollman JW, Kim D, Guay-Woodford LM. Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases. Frontiers in Pediatrics. 5: 80. PMID 28473971 DOI: 10.3389/Fped.2017.00080  0.305
2017 Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, ... ... Guay-Woodford L, et al. Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. Journal of the American Society of Nephrology : Jasn. PMID 28373276 DOI: 10.1681/Asn.2016121312  0.481
2017 Ebner K, Schaefer F, Liebau MC, Eid LA, Ranguelov N, Adams B, Hoeck Kv, Raes A, Mekahli D, Collard L, Lombet J, Maquet J, Cachat F, Schalk G, Seeman T, ... ... Guay-Woodford L, et al. Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease. Frontiers in Pediatrics. 5: 18-18. PMID 28296980 DOI: 10.3389/Fped.2017.00018  0.482
2016 Kingswood JC, Bissler JJ, Budde K, Hulbert J, Guay-Woodford L, Sampson JR, Sauter M, Cox J, Patel U, Elmslie F, Anderson C, Zonnenberg BA. Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study. Nephron. 133. PMID 27504842 DOI: 10.1159/000448293  0.344
2015 Lee CH, O'Connor AK, Yang C, Tate JM, Schoeb TR, Flint JJ, Blackband SJ, Guay-Woodford LM. Magnetic resonance microscopy of renal and biliary abnormalities in excised tissues from a mouse model of autosomal recessive polycystic kidney disease. Physiological Reports. 3. PMID 26320214 DOI: 10.14814/Phy2.12517  0.397
2015 Mrug M, Zhou J, Yang C, Aronow BJ, Cui X, Schoeb TR, Siegal GP, Yoder BK, Guay-Woodford LM. Genetic and Informatic Analyses Implicate Kif12 as a Candidate Gene within the Mpkd2 Locus That Modulates Renal Cystic Disease Severity in the Cys1cpk Mouse. Plos One. 10: e0135678. PMID 26295839 DOI: 10.1371/Journal.Pone.0135678  0.543
2015 Hwang VJ, Kim J, Rand A, Yang C, Sturdivant S, Hammock B, Bell PD, Guay-Woodford LM, Weiss RH. The cpk model of recessive PKD shows glutamine-dependence associated with the production of the oncometabolite 2-hydroxyglutarate. American Journal of Physiology. Renal Physiology. ajprenal.00238.2015. PMID 26155843 DOI: 10.1152/Ajprenal.00238.2015  0.427
2015 Cramer MT, Guay-Woodford LM. Cystic Kidney Disease: A Primer. Advances in Chronic Kidney Disease. 22: 297-305. PMID 26088074 DOI: 10.1053/j.ackd.2015.04.001  0.47
2015 Antignac C, Calvet JP, Germino GG, Grantham JJ, Guay-Woodford LM, Harris PC, Hildebrandt F, Peters DJ, Somlo S, Torres VE, Walz G, Zhou J, Yu AS. The Future of Polycystic Kidney Disease Research-As Seen By the 12 Kaplan Awardees. Journal of the American Society of Nephrology : Jasn. PMID 25952256 DOI: 10.1681/Asn.2014121192  0.412
2015 Kopp JB, Winkler CA, Zhao X, Radeva MK, Gassman JJ, D'Agati VD, Nast CC, Wei C, Reiser J, Guay-Woodford LM, Pollak MR, Hildebrandt F, Moxey-Mims M, Gipson DS, Trachtman H, et al. Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial. Journal of the American Society of Nephrology : Jasn. 26: 1443-8. PMID 25573908 DOI: 10.1681/Asn.2013111242  0.339
2015 Lambie L, Amin R, Essop F, Cnaan A, Krause A, Guay-Woodford LM. Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD. Pediatric Nephrology (Berlin, Germany). 30: 273-9. PMID 25193386 DOI: 10.1007/S00467-014-2917-1  0.455
2014 Guay-Woodford LM. Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases. Journal of Pediatric Genetics. 3: 89-101. PMID 25632369 DOI: 10.3233/PGE-14092  0.457
2014 Mrug M, Zhou J, Mrug S, Guay-Woodford LM, Yoder BK, Szalai AJ. Complement C3 activation in cyst fluid and urine from autosomal dominant polycystic kidney disease patients. Journal of Internal Medicine. 276: 539-40. PMID 25205519 DOI: 10.1111/Joim.12307  0.329
2014 Hartung EA, Guay-Woodford LM. Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics. 134: e833-45. PMID 25113295 DOI: 10.1542/Peds.2013-3646  0.455
2014 Guay-Woodford LM, Bissler JJ, Braun MC, Bockenhauer D, Cadnapaphornchai MA, Dell KM, Kerecuk L, Liebau MC, Alonso-Peclet MH, Shneider B, Emre S, Heller T, Kamath BM, Murray KF, Moise K, et al. Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. The Journal of Pediatrics. 165: 611-7. PMID 25015577 DOI: 10.1016/J.Jpeds.2014.06.015  0.374
2014 Boddu R, Yang C, O'Connor AK, Hendrickson RC, Boone B, Cui X, Garcia-Gonzalez M, Igarashi P, Onuchic LF, Germino GG, Guay-Woodford LM. Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1. Journal of Molecular Medicine (Berlin, Germany). 92: 1045-56. PMID 24984783 DOI: 10.1007/S00109-014-1185-7  0.727
2014 Guay-Woodford LM, Henske E, Igarashi P, Perrone RD, Reed-Gitomer B, Somlo S, Torres VE, Ketchum CJ, Star RA, Flessner MF, Rasooly RS. Filling the holes in cystic kidney disease research. Clinical Journal of the American Society of Nephrology : Cjasn. 9: 1799-801. PMID 24903391 DOI: 10.2215/Cjn.03410414  0.507
2014 Hartung EA, Matheson M, Lande MB, Dell KM, Guay-Woodford LM, Gerson AC, Warady BA, Hooper SR, Furth SL. Neurocognition in children with autosomal recessive polycystic kidney disease in the CKiD cohort study. Pediatric Nephrology (Berlin, Germany). 29: 1957-65. PMID 24828609 DOI: 10.1007/S00467-014-2816-5  0.469
2014 Cramer MT, Charlton JR, Fogo AB, Fathallah-Shaykh SA, Askenazi DJ, Guay-Woodford LM. Expanding the phenotype of proteinuria in Dent disease. A case series. Pediatric Nephrology (Berlin, Germany). 29: 2051-4. PMID 24810952 DOI: 10.1007/S00467-014-2824-5  0.49
2013 Mrug M, Zhou J, Guay-Woodford LM, Smythies LE. Renal macrophages in autosomal recessive polycystic kidney disease. Nephrology (Carlton, Vic.). 18: 746. PMID 24571748 DOI: 10.1111/nep.12153  0.438
2013 Wu M, Yang C, Tao B, Bu S, Guay-Woodford LM. The ciliary protein cystin forms a regulatory complex with necdin to modulate Myc expression. Plos One. 8: e83062. PMID 24349431 DOI: 10.1371/Journal.Pone.0083062  0.431
2013 Berbari NF, Sharma N, Malarkey EB, Pieczynski JN, Boddu R, Gaertig J, Guay-Woodford L, Yoder BK. Microtubule modifications and stability are altered by cilia perturbation and in cystic kidney disease. Cytoskeleton (Hoboken, N.J.). 70: 24-31. PMID 23124988 DOI: 10.1002/Cm.21088  0.748
2012 Chapman AB, Bost JE, Torres VE, Guay-Woodford L, Bae KT, Landsittel D, Li J, King BF, Martin D, Wetzel LH, Lockhart ME, Harris PC, Moxey-Mims M, Flessner M, Bennett WM, et al. Kidney volume and functional outcomes in autosomal dominant polycystic kidney disease. Clinical Journal of the American Society of Nephrology : Cjasn. 7: 479-86. PMID 22344503 DOI: 10.2215/Cjn.09500911  0.518
2011 Bell PD, Fitzgibbon W, Sas K, Stenbit AE, Amria M, Houston A, Reichert R, Gilley S, Siegal GP, Bissler J, Bilgen M, Chou PC, Guay-Woodford L, Yoder B, Haycraft CJ, et al. Loss of primary cilia upregulates renal hypertrophic signaling and promotes cystogenesis. Journal of the American Society of Nephrology : Jasn. 22: 839-48. PMID 21493775 DOI: 10.1681/Asn.2010050526  0.507
2011 Raynaud P, Tate J, Callens C, Cordi S, Vandersmissen P, Carpentier R, Sempoux C, Devuyst O, Pierreux CE, Courtoy P, Dahan K, Delbecque K, Lepreux S, Pontoglio M, Guay-Woodford LM, et al. A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis. Hepatology (Baltimore, Md.). 53: 1959-66. PMID 21391226 DOI: 10.1002/Hep.24292  0.365
2010 Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, ... ... Guay-Woodford LM, et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nature Genetics. 42: 840-50. PMID 20835237 DOI: 10.1038/Ng.662  0.519
2010 Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, Deschênes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, et al. Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome. Journal of Medical Genetics. 47: 445-52. PMID 20591883 DOI: 10.1136/Jmg.2009.076166  0.379
2010 Zhou J, Ouyang X, Cui X, Schoeb TR, Smythies LE, Johnson MR, Guay-Woodford LM, Chapman AB, Mrug M. Renal CD14 expression correlates with the progression of cystic kidney disease. Kidney International. 78: 550-60. PMID 20555320 DOI: 10.1038/Ki.2010.175  0.443
2010 Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini I, Fischer RE, Krasnewich D, Oden N, ... ... Guay-Woodford LM, et al. Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clinical Journal of the American Society of Nephrology : Cjasn. 5: 972-84. PMID 20413436 DOI: 10.2215/Cjn.07141009  0.524
2010 Murawski IJ, Maina RW, Malo D, Guay-Woodford LM, Gros P, Fujiwara M, Morgan K, Gupta IR. The C3H/HeJ inbred mouse is a model of vesico-ureteric reflux with a susceptibility locus on chromosome 12. Kidney International. 78: 269-78. PMID 20407478 DOI: 10.1038/Ki.2010.110  0.396
2010 Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Molecular Genetics and Metabolism. 99: 160-73. PMID 19914852 DOI: 10.1016/J.Ymgme.2009.10.010  0.494
2010 Guay-Woodford LM. Other Cystic Kidney Diseases Comprehensive Clinical Nephrology. 543-559. DOI: 10.1016/B978-0-323-05876-6.00045-9  0.418
2009 Tao B, Bu S, Yang Z, Siroky B, Kappes JC, Kispert A, Guay-Woodford LM. Cystin localizes to primary cilia via membrane microdomains and a targeting motif. Journal of the American Society of Nephrology : Jasn. 20: 2570-80. PMID 19850956 DOI: 10.1681/Asn.2009020188  0.506
2009 Guay-Woodford LM, Knoers NV. Genetic testing: considerations for pediatric nephrologists. Seminars in Nephrology. 29: 338-48. PMID 19615555 DOI: 10.1016/J.Semnephrol.2009.03.010  0.421
2009 Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA. MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. The Journal of Pediatrics. 155: 386-92.e1. PMID 19540516 DOI: 10.1016/J.Jpeds.2009.03.045  0.442
2009 Chapman AB, Guay-Woodford LM. Renal volume in children with ADPKD: size matters. Clinical Journal of the American Society of Nephrology : Cjasn. 4: 698-9. PMID 19339418 DOI: 10.2215/Cjn.01410209  0.507
2009 Bae KT, Tao C, Zhu F, Bost JE, Chapman AB, Grantham JJ, Torres VE, Guay-Woodford LM, Meyers CM, Bennett WM. MRI-based kidney volume measurements in ADPKD: reliability and effect of gadolinium enhancement. Clinical Journal of the American Society of Nephrology : Cjasn. 4: 719-25. PMID 19339416 DOI: 10.2215/Cjn.03750708  0.411
2009 Somlo S, Guay-Woodford LM. Polycystic Kidney Disease Genetic Diseases of the Kidney. 393-424. DOI: 10.1016/B978-0-12-449851-8.00024-3  0.458
2009 Guay-Woodford LM, Knoers NVAM. Clinical Applications of Genetics Genetic Diseases of the Kidney. 25-36. DOI: 10.1016/B978-0-12-449851-8.00002-4  0.351
2008 Consugar MB, Wong WC, Lundquist PA, Rossetti S, Kubly VJ, Walker DL, Rangel LJ, Aspinwall R, Niaudet WP, Ozen S, David A, Velinov M, Bergstralh EJ, Bae KT, Chapman AB, ... Guay-Woodford LM, et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney International. 74: 1468-79. PMID 18818683 DOI: 10.1038/Ki.2008.485  0.475
2008 Mrug M, Zhou J, Woo Y, Cui X, Szalai AJ, Novak J, Churchill GA, Guay-Woodford LM. Overexpression of innate immune response genes in a model of recessive polycystic kidney disease Kidney International. 73: 63-76. PMID 17960140 DOI: 10.1038/Sj.Ki.5002627  0.514
2008 Mrug M, Zhou J, Woo Y, Cui X, Szalai AJ, Novak J, Churchill GA, Guay-Woodford LM. Response to 'Overexpression of complement-component genes in Han:SPRD rats a model of polycystic kidney disease' Kidney International. 73: 1325. DOI: 10.1038/Ki.2008.52  0.479
2007 Torres VE, King BF, Chapman AB, Brummer ME, Bae KT, Glockner JF, Arya K, Risk D, Felmlee JP, Grantham JJ, Guay-Woodford LM, Bennett WM, Klahr S, Meyers CM, Zhang X, et al. Magnetic resonance measurements of renal blood flow and disease progression in autosomal dominant polycystic kidney disease. Clinical Journal of the American Society of Nephrology : Cjasn. 2: 112-20. PMID 17699395 DOI: 10.2215/Cjn.00910306  0.478
2007 Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, Bennett WM, Meyers CM, Walker DL, Bae K, Zhang QJ, Thompson PA, Miller JP, Harris PC. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 18: 2143-60. PMID 17582161 DOI: 10.1681/Asn.2006121387  0.455
2007 Garcia-Gonzalez MA, Menezes LF, Piontek KB, Kaimori J, Huso DL, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG. Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Human Molecular Genetics. 16: 1940-50. PMID 17575307 DOI: 10.1093/Hmg/Ddm141  0.565
2007 Kaimori JY, Nagasawa Y, Menezes LF, Garcia-Gonzalez MA, Deng J, Imai E, Onuchic LF, Guay-Woodford LM, Germino GG. Polyductin undergoes notch-like processing and regulated release from primary cilia. Human Molecular Genetics. 16: 942-56. PMID 17470460 DOI: 10.1093/Hmg/Ddm039  0.393
2006 Chiu MG, Johnson TM, Woolf AS, Dahm-Vicker EM, Long DA, Guay-Woodford L, Hillman KA, Bawumia S, Venner K, Hughes RC, Poirier F, Winyard PJ. Galectin-3 associates with the primary cilium and modulates cyst growth in congenital polycystic kidney disease. The American Journal of Pathology. 169: 1925-38. PMID 17148658 DOI: 10.2353/Ajpath.2006.060245  0.535
2006 Harris PC, Bae KT, Rossetti S, Torres VE, Grantham JJ, Chapman AB, Guay-Woodford LM, King BF, Wetzel LH, Baumgarten DA, Kenney PJ, Consugar M, Klahr S, Bennett WM, Meyers CM, et al. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 17: 3013-9. PMID 17035604 DOI: 10.1681/Asn.2006080835  0.544
2006 Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, Guay-Woodford L, Harris P, Heller T, Ingelfinger J, Kaskel F, Kleta R, LaRusso NF, Mohan P, Pazour GJ, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. The Journal of Pediatrics. 149: 159-64. PMID 16887426 DOI: 10.1016/J.Jpeds.2006.03.014  0.406
2006 Guay-Woodford LM. Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complex. Pediatric Nephrology (Berlin, Germany). 21: 1369-76. PMID 16823577 DOI: 10.1007/S00467-006-0164-9  0.558
2006 Grantham JJ, Torres VE, Chapman AB, Guay-Woodford LM, Bae KT, King BF, Wetzel LH, Baumgarten DA, Kenney PJ, Harris PC, Klahr S, Bennett WM, Hirschman GN, Meyers CM, Zhang X, et al. Volume progression in polycystic kidney disease. The New England Journal of Medicine. 354: 2122-30. PMID 16707749 DOI: 10.1056/Nejmoa054341  0.536
2006 Goilav B, Norton KI, Satlin LM, Guay-Woodford L, Chen F, Magid MS, Emre S, Shneider BL. Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association. Pediatric Transplantation. 10: 294-8. PMID 16677351 DOI: 10.1111/j.1399-3046.2005.00456.x  0.402
2006 Siroky BJ, Guay-Woodford LM. Renal cystic disease: the role of the primary cilium/centrosome complex in pathogenesis. Advances in Chronic Kidney Disease. 13: 131-7. PMID 16580614 DOI: 10.1053/J.Ackd.2006.01.021  0.516
2006 Warnock DG, Freedman BI, Guay-Woodford L, Bleyer AJ. Recent progress in inherited kidney diseases Advances in Chronic Kidney Disease. 13: 95. PMID 16580608 DOI: 10.1053/J.Ackd.2006.01.015  0.514
2006 Rule AD, Torres VE, Chapman AB, Grantham JJ, Guay-Woodford LM, Bae KT, Klahr S, Bennett WM, Meyers CM, Thompson PA, Miller JP. Comparison of methods for determining renal function decline in early autosomal dominant polycystic kidney disease: the consortium of radiologic imaging studies of polycystic kidney disease cohort. Journal of the American Society of Nephrology : Jasn. 17: 854-62. PMID 16452494 DOI: 10.1681/Asn.2005070697  0.453
2006 Olteanu D, Yoder BK, Liu W, Croyle MJ, Welty EA, Rosborough K, Wyss JM, Bell PD, Guay-Woodford LM, Bevensee MO, Satlin LM, Schwiebert EM. Heightened epithelial Na+ channel-mediated Na+ absorption in a murine polycystic kidney disease model epithelium lacking apical monocilia. American Journal of Physiology. Cell Physiology. 290: C952-63. PMID 16207792 DOI: 10.1152/Ajpcell.00339.2005  0.44
2005 O'Neill WC, Robbin ML, Bae KT, Grantham JJ, Chapman AB, Guay-Woodford LM, Torres VE, King BF, Wetzel LH, Thompson PA, Miller JP. Sonographic assessment of the severity and progression of autosomal dominant polycystic kidney disease: the Consortium of Renal Imaging Studies in Polycystic Kidney Disease (CRISP). American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. 46: 1058-64. PMID 16310571 DOI: 10.1053/J.Ajkd.2005.08.026  0.531
2005 Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts Journal of Medical Genetics. 42: 336-349. PMID 15805161 DOI: 10.1136/Jmg.2004.024489  0.539
2005 Mrug M, Li R, Cui X, Schoeb TR, Churchill GA, Guay-Woodford LM. Kinesin family member 12 is a candidate polycystic kidney disease modifier in the cpk mouse. Journal of the American Society of Nephrology : Jasn. 16: 905-16. PMID 15728779 DOI: 10.1681/Asn.2004121083  0.525
2004 Guay-Woodford LM. RIP-ed and ready to dance: new mechanisms for polycystin-1 signaling. The Journal of Clinical Investigation. 114: 1404-6. PMID 15545988 DOI: 10.1172/Jci23544  0.346
2004 Menezes LF, Cai Y, Nagasawa Y, Silva AM, Watkins ML, Da Silva AM, Somlo S, Guay-Woodford LM, Germino GG, Onuchic LF. Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm. Kidney International. 66: 1345-55. PMID 15458427 DOI: 10.1111/J.1523-1755.2004.00844.X  0.394
2004 Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, Li H, Blacque OE, Li L, Leitch CC, Lewis RA, Green JS, Parfrey PS, Leroux MR, Davidson WS, ... ... Guay-Woodford LM, et al. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell. 117: 541-52. PMID 15137946 DOI: 10.1016/S0092-8674(04)00450-7  0.345
2004 Bergmann C, Senderek J, Küpper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, et al. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Human Mutation. 23: 453-63. PMID 15108277 DOI: 10.1002/Humu.20029  0.459
2003 King BF, Torres VE, Brummer ME, Chapman AB, Bae KT, Glockner JF, Arya K, Felmlee JP, Grantham JJ, Guay-Woodford LM, Bennett WM, Klahr S, Hirschman GH, Kimmel PL, Thompson PA, et al. Magnetic resonance measurements of renal blood flow as a marker of disease severity in autosomal-dominant polycystic kidney disease. Kidney International. 64: 2214-21. PMID 14633145 DOI: 10.1046/J.1523-1755.2003.00326.X  0.516
2003 Guay-Woodford LM. Murine models of polycystic kidney disease: molecular and therapeutic insights. American Journal of Physiology. Renal Physiology. 285: F1034-49. PMID 14600027 DOI: 10.1152/Ajprenal.00195.2003  0.524
2003 Chapman AB, Guay-Woodford LM, Grantham JJ, Torres VE, Bae KT, Baumgarten DA, Kenney PJ, King BF, Glockner JF, Wetzel LH, Brummer ME, O'Neill WC, Robbin ML, Bennett WM, Klahr S, et al. Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort. Kidney International. 64: 1035-45. PMID 12911554 DOI: 10.1046/J.1523-1755.2003.00185.X  0.504
2003 Furu L, Onuchic LF, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Bergmann C, Senderek J, Avner E, Zerres K, Germino GG, Guay-Woodford LM, Somlo S. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. Journal of the American Society of Nephrology : Jasn. 14: 2004-14. PMID 12874454 DOI: 10.1097/01.Asn.0000078805.87038.05  0.489
2003 Guay-Woodford LM, Desmond RA. Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 111: 1072-80. PMID 12728091 DOI: 10.1542/Peds.111.5.1072  0.402
2003 Cogswell C, Price SJ, Hou X, Guay-Woodford LM, Flaherty L, Bryda EC. Positional cloning of jcpk/bpk locus of the mouse. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 14: 242-9. PMID 12682776 DOI: 10.1007/S00335-002-2241-0  0.435
2003 Cho JT, Guay-Woodford LM. Heterozygous Mutations of The Gene for Kir 1.1 (ROMK) in Antenatal Bartter Syndrome Presenting with Transient Hyperkalemia, Evolving to a Benign Course Journal of Korean Medical Science. 18: 65-68. PMID 12589089 DOI: 10.3346/Jkms.2003.18.1.65  0.429
2003 Satlin LM, Guay-Woodford L, Chevalier RL. Proceedings of the Eighth International Workshop on Developmental Nephrology: genes, morphogenesis, and function. The sessions. Pediatric Nephrology (Berlin, Germany). 18: 174-95. PMID 12579410 DOI: 10.1007/S00467-002-1060-6  0.309
2003 Capisonda R, Phan V, Traubuci J, Daneman A, Balfe JW, Guay-Woodford LM. Autosomal recessive polycystic kidney disease: outcomes from a single-center experience. Pediatric Nephrology (Berlin, Germany). 18: 119-26. PMID 12579400 DOI: 10.1007/S00467-002-1021-0  0.458
2003 Ruf R, Rensing C, Topaloglu R, Guay-Woodford L, Klein C, Vollmer M, Otto E, Beekmann F, Haller M, Wiedensohler A, Leumann E, Antignac C, Rizzoni G, Filler G, Brandis M, et al. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. Pediatric Nephrology (Berlin, Germany). 18: 105-9. PMID 12579397 DOI: 10.1007/s00467-002-1018-8  0.416
2003 Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schöneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Büttner R, et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Journal of the American Society of Nephrology : Jasn. 14: 76-89. PMID 12506140 DOI: 10.1097/01.Asn.0000039578.55705.6E  0.419
2003 Satlin LM, Guay-Woodford L, Chevalier RL. Introduction to the Proceedings of the Eighth International Workshop on Developmental Nephrology: Genes, Morphogenesis, and Function Pediatric Nephrology. 18: 164-164. DOI: 10.1007/S00467-002-1009-9  0.311
2002 Price SJ, Chittenden LR, Flaherty L, O'Dell B, Guay-Woodford LM, Stubbs L, Bryda EC. Characterization of the region containing the jcpk PKD gene on mouse Chromosome 10. Cytogenetic and Genome Research. 98: 61-6. PMID 12584442 DOI: 10.1159/000068534  0.406
2002 Guay-Woodford LM. Autosomal recessive polycystic kidney disease (ARPKD): new insights from the identification of the ARPKD gene, PKHD1. Pediatric Research. 52: 830-1. PMID 12438655 DOI: 10.1203/00006450-200212000-00002  0.521
2002 Yoder BK, Hou X, Guay-Woodford LM. The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. Journal of the American Society of Nephrology : Jasn. 13: 2508-16. PMID 12239239 DOI: 10.1097/01.Asn.0000029587.47950.25  0.509
2002 Nagasawa Y, Matthiesen S, Onuchic LF, Hou X, Bergmann C, Esquivel E, Senderek J, Ren Z, Zeltner R, Furu L, Avner E, Moser M, Somlo S, Guay-Woodford L, Büttner R, et al. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. Journal of the American Society of Nephrology : Jasn. 13: 2246-58. PMID 12191969 DOI: 10.1097/01.Asn.0000030392.19694.9D  0.455
2002 Onuchic LF, Mrug M, Hou X, Eggermann T, Bergmann C, Zerres K, Avner ED, Furu L, Somlo S, Nagasawa Y, Germino GG, Guay-Woodford LM. Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene. American Journal of Medical Genetics. 110: 346-52. PMID 12116208 DOI: 10.1002/Ajmg.10468  0.486
2002 Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, ... Guay-Woodford LM, et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. American Journal of Human Genetics. 70: 1305-17. PMID 11898128 DOI: 10.1086/340448  0.496
2002 Schwiebert EM, Wallace DP, Braunstein GM, King SR, Peti-Peterdi J, Hanaoka K, Guggino WB, Guay-Woodford LM, Bell PD, Sullivan LP, Grantham JJ, Taylor AL. Autocrine extracellular purinergic signaling in epithelial cells derived from polycystic kidneys. American Journal of Physiology. Renal Physiology. 282: F763-75. PMID 11880338 DOI: 10.1152/Ajprenal.0337.2000  0.409
2002 Hou X, Mrug M, Yoder BK, Lefkowitz EJ, Kremmidiotis G, D'Eustachio P, Beier DR, Guay-Woodford LM. Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease. The Journal of Clinical Investigation. 109: 533-40. PMID 11854326 DOI: 10.1172/Jci14099  0.572
2001 Mrug M, Green WJ, DasGupta S, Beier DR, Lu W, D'Eustachio P, Guay-Woodford LM. An integrated genetic and physical map of the 650-kb region containing the congenital polycystic kidney (cpk) locus on mouse chromosome 12. Cytogenetics and Cell Genetics. 94: 55-61. PMID 11701955 DOI: 10.1159/000048783  0.395
2000 Mrug M, Stockwin J, Ẅuthrich RP, Gasser DL, Guay-Woodford LM. Mapping of mouse α1(XIII) collagen to chromosome 10 and its exclusion as a kd candidate gene Biochemical Genetics. 38: 337-340. PMID 11129527 DOI: 10.1023/A:1002013218535  0.486
2000 Nauta J, Goedbloed MA, Herck HV, Hesselink DA, Visser P, Willemsen R, Dokkum RP, Wright CJ, Guay-Woodford LM. New rat model that phenotypically resembles autosomal recessive polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 11: 2272-84. PMID 11095650  0.387
2000 Konrad M, Vollmer M, Lemmink HH, VAN DEN Heuvel LPWJ, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NVAM, Seyberth HW, Feldmann D, Hildebrandt F. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. Journal of the American Society of Nephrology : Jasn. 11: 1449-1459. PMID 10906158 DOI: 10.1681/ASN.V1181449  0.32
2000 Guay-Woodford LM, Wright CJ, Walz G, Churchill GA. Quantitative trait loci modulate renal cystic disease severity in the mouse bpk model. Journal of the American Society of Nephrology : Jasn. 11: 1253-60. PMID 10864581  0.446
2000 Hofmann Y, Becker J, Wright F, Avner ED, Mrug M, Guay-Woodford LM, Somlo S, Zerres K, Germino GG, Onuchic LF. Genomic structure of the gene for the human p1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease European Journal of Human Genetics. 8: 163-166. PMID 10780780 DOI: 10.1038/Sj.Ejhg.5200426  0.487
2000 Guay-Woodford LM, Green WJ, Lindsey JR, Beier DR. Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulated. Human Molecular Genetics. 9: 769-78. PMID 10749984 DOI: 10.1093/Hmg/9.5.769  0.479
1999 Onuchic LF, Mrug M, Lakings AL, Muecher G, Becker J, Zerres K, Avner ED, Dixit M, Somlo S, Germino GG, Guay-Woodford LM. Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene Mammalian Genome. 10: 1175-1178. PMID 10594243 DOI: 10.1007/S003359901186  0.43
1999 Dell KM, Guay-Woodford LM. Inherited tubular transport disorders Seminars in Nephrology. 19: 364-373. PMID 10435674  0.349
1999 Guay-Woodford LM. Overview: The genetics of renal disease Seminars in Nephrology. 19: 312-318. PMID 10435669  0.456
1999 Guay-Woodford LM. Phenotypic variability in PKD1: The family as a starting point Kidney International. 56: 344-346. PMID 10411712 DOI: 10.1046/J.1523-1755.1999.00552.X  0.528
1999 Scheinman SJ, Guay-Woodford LM, Thakker RV, Warnock DG. Mechanisms of Disease: Genetic disorders of renal electrolyte transport New England Journal of Medicine. 340: 1177-1187. PMID 10202170 DOI: 10.1056/Nejm199904153401507  0.454
1999 Park JH, Dixit MP, Onuchic LF, Wu G, Goncharuk AN, Kneitz S, Santarina LB, Hayashi T, Avner ED, Guay-Woodford L, Zerres K, Germino GG, Somlo S. A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6. Genomics. 57: 249-55. PMID 10198164 DOI: 10.1006/Geno.1999.5777  0.39
1999 Guay-Woodford LM, Borhaini L, Shaw PK, Harrison R. The Clinical Characteristics of Autosomal Recessive Polycystic Kidney Disease (ARPKD): An Update of the North American Experience Pediatric Research. 45: 332A-332A. DOI: 10.1203/00006450-199904020-01977  0.352
1998 Loh NY, Ambrose HJ, Guay-Woodford LM, DasGupta S, Nawrotzki RA, Blake DJ, Davies KE. Genomic organization and refined mapping of the mouse beta-dystrobrevin gene. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 9: 857-62. PMID 9799833 DOI: 10.1007/S003359900883  0.323
1998 Lemmink HH, Knoers NVAM, Karolyi L, Van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LAH, Van Den Heuvel LPWJ. Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C- terminal domain Kidney International. 54: 720-730. PMID 9734597 DOI: 10.1046/J.1523-1755.1998.00070.X  0.418
1998 Guay-Woodford LM. Bartter syndrome: Unraveling the pathophysiologic enigma American Journal of Medicine. 105: 151-161. PMID 9727823 DOI: 10.1016/S0002-9343(98)00196-X  0.423
1998 Guay-Woodford LM, Galliani CA, Musulman-Mroczek E, Spear GS, Guillot AP, Bernstein J. Diffuse renal cystic disease in children: morphologic and genetic correlations. Pediatric Nephrology (Berlin, Germany). 12: 173-82. PMID 9630032 DOI: 10.1007/S004670050431  0.452
1998 Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, Van Den Heuvel LPWJ, Tebourbi L, Brandis M, Karolyi L, Hebert SC, Lemmink HH, Deschênes G, Hildebrandt F, Seyberth HW, Guay-Woodford LM, et al. Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome American Journal of Human Genetics. 62: 1332-1340. PMID 9585600 DOI: 10.1086/301872  0.425
1998 Mücher G, Becker J, Knapp M, Büttner R, Moser M, Rudnik-Schöneborn S, Somlo S, Germino G, Onuchic L, Avner E, Guay-Woodford L, Zerres K. Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. Genomics. 48: 40-5. PMID 9503014 DOI: 10.1006/Geno.1997.5145  0.41
1998 Jarolim P, Shayakul C, Prabakaran D, Jiang L, Stuart-Tilley A, Rubin HL, Simova S, Zavadil J, Herrin JT, Brouillette J, Somers MJG, Seemanova E, Brugnara C, Guay-Woodford LM, Alper SL. Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (Band 3) Cl- /HCO3/- exchanger Journal of Biological Chemistry. 273: 6380-6388. PMID 9497368 DOI: 10.1074/jbc.273.11.6380  0.378
1998 Guay-Woodford LM, Stockwin JM, Bernstein J. The Human Homologue of The Mouse bpk Gene is Implicated in a Novel Recessive Polycystic Kidney Disease (R-PKD) Phenotype • 1808 Pediatric Research. 43: 308-308. DOI: 10.1203/00006450-199804001-01831  0.478
1997 Kurtz CL, Karolyi L, Seyberth HW, Koch MC, Vargas R, Feldmann D, Vollmer M, Knoers NVAM, Madrigal G, Guay-Woodford LM. A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: Evidence for a founder effect Journal of the American Society of Nephrology. 8: 1706-1711. PMID 9355073  0.301
1997 Moser M, Pscherer A, Roth C, Becker J, Mücher G, Zerres K, Dixkens C, Weis J, Guay-Woodford L, Buettner R, Fässler R. Enhanced Apoptotic Cell Death Of Renal Epithelial Cells In Mice Lacking Transcription Factor Ap-2Beta Genes & Development. 11: 1938-1948. PMID 9271117 DOI: 10.1101/Gad.11.15.1938  0.451
1997 Madrigal G, Saborio P, Mora F, Rincon G, Guay-Woodford LM. Bartter syndrome in Costa Rica: A description of 20 cases Pediatric Nephrology. 11: 296-301. PMID 9203176 DOI: 10.1007/S004670050280  0.339
1997 Lens XM, Onuchic LF, Wu G, Hayashi T, Daoust M, Mochizuki T, Santarina LB, Stockwin JM, Mücher G, Becker J, Sweeny WE, Avner ED, Guay-Woodford L, Zerres K, Somlo S, et al. An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region. Genomics. 41: 463-6. PMID 9169147 DOI: 10.1006/Geno.1997.4671  0.421
1997 Sharp CK, Bergman SM, Stockwin JM, Robbin ML, Galliani C, Guay-Woodford LM. Dominantly transmitted glomerulocystic kidney disease A distinct genetic entity Journal of the American Society of Nephrology. 8: 77-84. PMID 9013451  0.388
1997 Károlyi L, Konrad M, Köckerling A, Ziegler A, Zimmermann DK, Roth B, Wieg C, Grzeschik KH, Koch MC, Seyberth HW, Vargas R, Forestier L, Jean G, Deschaux M, Rizzoni GF, ... ... Guay-Woodford LM, et al. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: Evidence for genetic heterogeneity Human Molecular Genetics. 6: 17-26. PMID 9002665 DOI: 10.1093/Hmg/6.1.17  0.435
1997 Guay-Woodford LM, Wright CJ. Severity of the Renal Cystic Disease in the Mouse bpk Model is Influenced by Modifying Genes. • 1656 Pediatric Research. 41: 278-278. DOI: 10.1203/00006450-199704001-01675  0.531
1996 Guay-Woodford LM, Bryda EC, Christine B, Lindsey JR, Collier WR, Avner ED, D'Eustachio P, Flaherty L. Evidence that two phenotypically distinct mouse PKD mutations, bpk and jcpk, are allelic. Kidney International. 50: 1158-65. PMID 8887273 DOI: 10.1038/Ki.1996.423  0.483
1996 Guay-Woodford LM, Bryda EC, Lindsay JR, Avner ED, Flaherty L. THE MOUSE bpk MUTATION, A MODEL OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD) and jcpk, A PHENOTYPICALLY DISTINCT PKD MUTATION, ARE ALLELIC. • 2151 Pediatric Research. 39: 361-361. DOI: 10.1203/00006450-199604001-02175  0.366
1995 Onuchic LF, Schrick JJ, Ma J, Hudson T, Guay-Woodford LM, Zerres K, Woychik RP, Reeders ST. Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney disease Mammalian Genome. 6: 805-808. PMID 8597639 DOI: 10.1007/BF00539009  0.401
1995 Guay-Woodford LM, Muecher G, Hopkins SD, Avner ED, Germino GG, Guillot AP, Herrin J, Holleman R, Irons DA, Primack W. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. American Journal of Human Genetics. 56: 1101-7. PMID 7726165  0.348
1995 Guay-Woodford LM. Molecular insights into the pathogenesis of inherited renal tubular disorders Current Opinion in Nephrology and Hypertension. 4: 121-129. PMID 7600042 DOI: 10.1097/00041552-199503000-00004  0.452
1994 Simon EA, Cook S, Davisson MT, D'Eustachio P, Guay-Woodford LM. The mouse congenital polycystic kidney (cpk) locus maps within 1.3 cM of the chromosome 12 marker D12Nyu2 Genomics. 21: 415-418. PMID 8088836 DOI: 10.1006/Geno.1994.1285  0.478
1994 D'Agata ID, Jonas MM, Perez-Atayde AR, Guay-Woodford LM. Combined cystic disease of the liver and kidney. Seminars in Liver Disease. 14: 215-28. PMID 7939783 DOI: 10.1055/s-2007-1007313  0.336
Show low-probability matches.