Genomes and Genes
Lisa M Guay-Woodford
Affiliation: University of Alabama at Birmingham
- RIP-ed and ready to dance: new mechanisms for polycystin-1 signalingLisa M Guay-Woodford
Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA
J Clin Invest 114:1404-6. 2004....
- Murine models of polycystic kidney disease: molecular and therapeutic insightsLisa M Guay-Woodford
Division of Genetic and Translational Medicine, Department of Medicine, University of Alabama at Birmingham, Kaul 740, 1530 3rd Ave South 19th St, Birmingham, AL 35294, USA
Am J Physiol Renal Physiol 285:F1034-49. 2003....
- Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complexLisa M Guay-Woodford
Departments of Medicine, Pediatrics, and Genetics, Division of Genetic and Translational Medicine, University of Alabama at Birmingham, 1530 3rd Avenue South 19th Street, Birmingham, AL 35294, USA
Pediatr Nephrol 21:1369-76. 2006....
- Autosomal recessive polycystic kidney disease: the clinical experience in North AmericaLisa M Guay-Woodford
Division of Genetic and Translational Medicine, Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
Pediatrics 111:1072-80. 2003....
- Quantitative trait loci modulate renal cystic disease severity in the mouse bpk modelL M Guay-Woodford
Department of Medicine, University of Alabama at Birmingham, 35294, USA
J Am Soc Nephrol 11:1253-60. 2000..It is hypothesized that the gene encoding the polycystin-binding partner RGS7 is a candidate for the Chr 1 genetic modifier...
- Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulatedL M Guay-Woodford
Department of Medicine, University of Alabama at Birmingham, 35294, USA
Hum Mol Genet 9:769-78. 2000..Expression of the biliary lesion is modulated by genetic background, and the specific biliary phenotype is determined by whether loss of function of the cpk gene occurs as a germline or a somatic event...
- Overview: the genetics of renal diseaseL M Guay-Woodford
Department of Medicine, University of Alabama at Birmingham, USA
Semin Nephrol 19:312-8. 1999..This review summarizes the role of genetics in renal disease, the different modes of inheritance of disease-susceptibility genes, the strategies for gene discovery, and the clinical impact of disease gene identification...
- 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 repeatsLuiz F Onuchic
Department of Medicine, Johns Hopkins University, Baltimore, MD, USA
Am J Hum Genet 70:1305-17. 2002....
- Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohortArlene B Chapman
Department of Medicine Renal Division, University of Alabama at Birmingham, Birmingham, Alabama, USA
Kidney Int 64:1035-45. 2003....
- The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal ciliaBradley K Yoder
Department of Cell Biology, University of Alabama at Birmingham, Birmingham, Alabama 35294 0024, USA
J Am Soc Nephrol 13:2508-16. 2002..These data add to a growing body of evidence that suggests that primary cilium plays a key role in normal physiologic functions of renal epithelia and that defects in ciliary function contribute to the pathogenesis of PKD...
- Cystin localizes to primary cilia via membrane microdomains and a targeting motifBinli Tao
Departments of Medicine and Genetics, University of Alabama at Birmingham, 720 20th Street South, Birmingham, AL 35294, USA
J Am Soc Nephrol 20:2570-80. 2009..Analysis of deletion and chimeric constructs identified an AxEGG motif that is necessary to target and retain cystin in the cilium. Derangement of these localization motifs may lead to cystic kidney disease...
- 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 cohortAndrew D Rule
Division of Nephrology, Mayo Foundation, 200 First Street SW, Rochester, MN 55905, and University of Alabama, Birmingham, USA
J Am Soc Nephrol 17:854-62. 2006..Misclassification from changes in non-GFR factors (e.g., creatinine production, tubular secretion) conservatively biased associations with eGFR. Misclassification from method imprecision attenuated associations with creatinine clearance...
- Renal CD14 expression correlates with the progression of cystic kidney diseaseJuling Zhou
Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA
Kidney Int 78:550-60. 2010..But the association was significant when the analysis was confined to males. Clearly more studies need to be done to evaluate the utility of CD14 as a marker for outcomes in ADPKD...
- Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney diseaseXiaoying Hou
Division of Nephrology, Department of Medicine, University of Alabama at Birmingham, USA
J Clin Invest 109:533-40. 2002..We therefore propose that the single epithelial cilium is important in the functional differentiation of polarized epithelia and that ciliary dysfunction underlies the PKD phenotype in cpk mice...
- Genetic and Informatic Analyses Implicate Kif12 as a Candidate Gene within the Mpkd2 Locus That Modulates Renal Cystic Disease Severity in the Cys1cpk MouseMichal Mrug
Department of Medicine, The University of Alabama at Birmingham, Birmingham, AL 35294, United States of America Department of Veterans Affairs Medical Center, Birmingham, AL 35233, United States of America
PLoS ONE 10:e0135678. 2015..Together, these data provide genetic and informatic validation of the predicted renal cystic disease-modulating effects of Mpkd1-3 loci and implicate Kif12 as the candidate locus for Mpkd2. ..
- Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathwayMiguel A Garcia-Gonzalez
Department of Medicine, Division of Nephrology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Hum Mol Genet 16:1940-50. 2007..These studies are the first to show genetic interaction between the major loci responsible for human renal cystic disease in a common PKD pathway...
- Kinesin family member 12 is a candidate polycystic kidney disease modifier in the cpk mouseMichal Mrug
Department of Medicine, University of Alabama at Birmingham, 740 Kaul Human Genetics Building, 720 20th Street South, Birmingham, AL 35294, USA
J Am Soc Nephrol 16:905-16. 2005..Therefore, the positional candidate gene, Kif12, fulfills the major criteria for QTL gene discovery established by the Complex Trait Consortium, and, thus, it is proposed that Kif12 is a cpk modifier gene...
- Polyductin undergoes notch-like processing and regulated release from primary ciliaJun Ya Kaimori
Division of Nephrology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Hum Mol Genet 16:942-56. 2007..Regulated release from the primary cilium into the lumen may be a mechanism to distribute signal to down-stream targets using flow...
- Sonographic assessment of the severity and progression of autosomal dominant polycystic kidney disease: the Consortium of Renal Imaging Studies in Polycystic Kidney Disease (CRISP)W CHARLES O'NEILL
Department of Medicine, Emory University School of Medicine, Atlanta, GA, USA
Am J Kidney Dis 46:1058-64. 2005..The accuracy and precision of ultrasonography (US) in assessing the severity of autosomal dominant polycystic kidney disease (ADPKD) is unknown...
- Autocrine extracellular purinergic signaling in epithelial cells derived from polycystic kidneysErik M Schwiebert
Department of Physiology and Biophysics, University of Alabama at Birmingham, 35294, USA
Am J Physiol Renal Physiol 282:F763-75. 2002..Therefore, we hypothesize that autocrine purinergic signaling may augment detrimentally cyst volume expansion in ADPKD or tubule dilation in ARPKD, accelerating disease progression...
- Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1Ravindra Boddu
Department of Cell Biology, University of Alabama at Birmingham, Birmingham, AL, 35294, USA
J Mol Med (Berl) 92:1045-56. 2014..Key messages: Multiple mRNA transcripts are generated for Pkhd1 in renal tissues Pkhd1 transcription is modulated by standard splice elements and effectors Mutations in splice motifs may alter splicing to generate nonfunctional peptides...
- Renal cystic disease: the role of the primary cilium/centrosome complex in pathogenesisBrian J Siroky
Department of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA
Adv Chronic Kidney Dis 13:131-7. 2006....
- Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate geneLuiz F Onuchic
Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA
Am J Med Genet 110:346-52. 2002..This further refinement of the PKHD1 interval will facilitate efforts to identify the PKHD1 gene by positional cloning. These data also provide additional, highly polymorphic markers for haplotype-based diagnostic testing for ARPKD...
- Loss of primary cilia results in deregulated and unabated apical calcium entry in ARPKD collecting duct cellsBrian J Siroky
Department of Physiology, Univ of Alabama at Birmingham, Birmingham, AL, USA
Am J Physiol Renal Physiol 290:F1320-8. 2006....
- The ciliary protein cystin forms a regulatory complex with necdin to modulate Myc expressionMaoqing Wu
Research Division, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, United States of America
PLoS ONE 8:e83062. 2013..Thus, we speculate that Myc overexpression in the cpk kidney results from the dysregulation of the cystin-necdin regulatory complex and c-Myc, in turn, contributes to cystogenesis in the cpk mouse. ..
- Genetic testing: considerations for pediatric nephrologistsLisa M Guay-Woodford
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA
Semin Nephrol 29:338-48. 2009..In addition, we describe new technical advances that are expected to be introduced into clinical practice in the coming years...
- Autosomal recessive polycystic kidney disease (ARPKD): new insights from the identification of the ARPKD gene, PKHD1Lisa M Guay-Woodford
Department of Medicine, Division of Genetic and Translational Medicine, University of Alabama at Birmingham, Kaul 740, 1530 3rd Avenue South 19th Street, Birmingham, AL 35294, USA
Pediatr Res 52:830-1. 2002
- Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndromeMark B Consugar
Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
Kidney Int 74:1468-79. 2008..Our assay improves detection levels and the reliability of molecular testing of patients with ADPKD...
- Autosomal recessive PKD in the early yearsLisa M Guay-Woodford
University of Alabama at Birmingham, USA
Nephrol News Issues 21:39. 2007
- Magnetic resonance measurements of renal blood flow as a marker of disease severity in autosomal-dominant polycystic kidney diseaseBernard F King
Department of Medicine Renal Division, University of Alabama, Birmingham, Alabama, USA
Kidney Int 64:2214-21. 2003..Despite evidence for the importance of nephroangiosclerosis in the progression of renal insufficiency in ADPKD, evaluation of renal blood flow (RBF) as a surrogate marker of disease severity has received little attention...
- 14-3-3 interacts with regulator of G protein signaling proteins and modulates their activityT Benzing
Department of Medicine, University Hospital of Freiburg, Hugstetterstr 55, 79106 Freiburg, Germany
J Biol Chem 275:28167-72. 2000..Collectively, these data indicate that phosphorylation-dependent binding of 14-3-3 may act as molecular switch that controls the GAP activity keeping a substantial fraction of RGS proteins in a dormant state...
- Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2L Tsiokas
Renal Division, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA
Proc Natl Acad Sci U S A 94:6965-70. 1997..These interactions suggest that PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis and that PKD1 may require the presence of PKD2 for stable expression...
- Interaction with podocin facilitates nephrin signalingT B Huber
Renal Division, University Hospital Freiburg, Freiburg 79106, Germany
J Biol Chem 276:41543-6. 2001..Mutational analysis suggests that abnormal or inefficient signaling through the nephrin-podocin complex contributes to the development of podocyte dysfunction and proteinuria...
- [Pathogenesis of cystic kidney diseases]G Walz
Medizinische Klinik IV Nephrologie und Allgemeinmedizin, Universitatsklinikum Freiburg
Verh Dtsch Ges Pathol 86:138-44. 2002..Delineating common pathways of cystogenesis may help to design therapeutic strategies that combat the development and/or progression of renal cysts...
- Specific association of the gene product of PKD2 with the TRPC1 channelL Tsiokas
Renal Division, RW 563, Beth Israel Deaconess Medical Center, Harvard Medical School, 330 Brookline Avenue, Boston, MA 02215, USA
Proc Natl Acad Sci U S A 96:3934-9. 1999....
- Interaction between RGS7 and polycystinE Kim
Laboratory of Molecular and Developmental Neuroscience, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
Proc Natl Acad Sci U S A 96:6371-6. 1999..Furthermore, membranous expression of C-terminal polycystin relocalized RGS7. Our results indicate that rapid degradation and interaction with integral membrane proteins are potential means of regulating RGS proteins...
- [Pathogenetic aspectics of nephrotic syndrome]G Walz
Medizinische Klinik IV, Universitatsklinikum, Freiburg, Germany
Internist (Berl) 44:1075-82. 2003..The familiar forms are rare; however, the identification of the relevant gene defects has greatly advanced our understanding of podocyte function as well as the pathogenesis of nephrotic syndrome...
- Polycystic kidney disease: cell division without a c(l)ue?M Simons
Renal Division, University Hospital Freiburg, Freiburg, Germany
Kidney Int 70:854-64. 2006..Failure to communicate this spatial information may condemn the tubular epithelial cells to proliferate and to form cysts...
- The C/EBP homologous protein CHOP (GADD153) is an inhibitor of Wnt/TCF signalsM Horndasch
Department of Medicine, Division of Nephrology, University Hospital of Freiburg, Freiburg, Germany
Oncogene 25:3397-407. 2006..CHOP binds to TCF factors, thereby preventing the binding of TCF to its DNA recognition site. Our findings demonstrate a novel function of CHOP as a Wnt repressor...
- The cytoplasmic C-terminal fragment of polycystin-1 regulates a Ca2+-permeable cation channelD H Vandorpe
Molecular Medicine and Renal Units, Beth Israel Deaconess Medical Center, Department of Medicine, Harvard Medical School, Boston, Massachusetts 02215, USA
J Biol Chem 276:4093-101. 2001..Dysregulation of these or similar channels in autosomal dominant polycystic kidney disease may contribute to cyst formation or expansion...
- Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2T Benzing
Renal Division, University Hospital Freiburg, 79106 Freiburg, Germany and Children s Hospital, and Molecular Medicine, University of Freiburg, 79106 Freiburg, Germany
Proc Natl Acad Sci U S A 98:9784-9. 2001..A lack of functional nephrocystin may compromise Pyk2 signaling in a subset of renal epithelial cells...
- Control of the cystic fibrosis transmembrane conductance regulator by alphaG(i) and RGS proteinsR Schreiber
Department of Physiology and Pharmacology, University of Queensland, St. Lucia, Queensland, 4072, Australia
Biochem Biophys Res Commun 281:917-23. 2001..Because RGS proteins interfere with the G protein-dependent regulation of CFTR, this may offer new potential pathways for pharmacological intervention in cystic fibrosis...
- FASEB Conference -PKD Mechanisms and Clinical ImpactLisa Guay Woodford; Fiscal Year: 2005..By allowing ample time for scientific exchanges and critical discussion, the conference will serve as a conduit for exploring new experimental ideas and fostering new research collaborations. ..
- Molecular networks: programming normal renal development and modeling disease patLisa Guay Woodford; Fiscal Year: 2007..The meeting will be held in Pecs, Hungary from August 27-30, 2007, immediately preceding the 14th IPNA Congress in Budapest, Hungary (August 31- September 4, 2007). [unreadable] [unreadable] [unreadable]..
- Cystin, a lipid raft and cilia-associated protein in PKDLisa Guay Woodford; Fiscal Year: 2008..unreadable] [unreadable] [unreadable] [unreadable]..
- Genetics and Pharmacogenetics in FSGS (PPG Project 4)Lisa Guay Woodford; Fiscal Year: 2007..unreadable]..