Gene Symbol: Umod
Description: uromodulin
Alias: THP, Urehd1, urehr4, uromodulin, Tamm-Horsfall urinary glycoprotein, uromucoid
Species: mouse
Products:     Umod

Top Publications

  1. Aigner B, Rathkolb B, Herbach N, Kemter E, Schessl C, Klaften M, et al. Screening for increased plasma urea levels in a large-scale ENU mouse mutagenesis project reveals kidney disease models. Am J Physiol Renal Physiol. 2007;292:F1560-7 pubmed
  2. Bernascone I, Janas S, Ikehata M, Trudu M, Corbelli A, Schaeffer C, et al. A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure. Hum Mol Genet. 2010;19:2998-3010 pubmed publisher
    b>Uromodulin-associated kidney diseases (UAKD) are autosomal-dominant disorders characterized by alteration of urinary concentrating ability, tubulo-interstitial fibrosis, hyperuricaemia and renal cysts at the cortico-medullary junction...
  3. Liu Y, El Achkar T, Wu X. Tamm-Horsfall protein regulates circulating and renal cytokines by affecting glomerular filtration rate and acting as a urinary cytokine trap. J Biol Chem. 2012;287:16365-78 pubmed publisher
    ..Here we show that elimination of Tamm-Horsfall protein (THP) expression from mouse kidneys caused a marked elevation of circulating IFN-?, IL1?, TNF-?, IL6, CXCL1, and IL13...
  4. Bates J, Raffi H, Prasadan K, Mascarenhas R, Laszik Z, Maeda N, et al. Tamm-Horsfall protein knockout mice are more prone to urinary tract infection: rapid communication. Kidney Int. 2004;65:791-7 pubmed
    ..Factors involved in clearing bacteria from the urinary tract are poorly understood. Tamm-Horsfall protein (THP), the most abundant protein in mammalian urine, has been postulated to play a role in defense against urinary tract ..
  5. El Achkar T, McCracken R, Rauchman M, Heitmeier M, Al Aly Z, Dagher P, et al. Tamm-Horsfall protein-deficient thick ascending limbs promote injury to neighboring S3 segments in an MIP-2-dependent mechanism. Am J Physiol Renal Physiol. 2011;300:F999-1007 pubmed publisher
    Tamm-Horsfall protein (THP) is a glycoprotein expressed exclusively in thick ascending limbs (TAL) of the kidney...
  6. Mo L, Zhu X, Huang H, Shapiro E, Hasty D, Wu X. Ablation of the Tamm-Horsfall protein gene increases susceptibility of mice to bladder colonization by type 1-fimbriated Escherichia coli. Am J Physiol Renal Physiol. 2004;286:F795-802 pubmed
    ..In this study, we examined the in vivo role of Tamm-Horsfall protein (THP), the most abundant urinary protein, in innate urinary defense...
  7. Mo L, Liaw L, Evan A, Sommer A, Lieske J, Wu X. Renal calcinosis and stone formation in mice lacking osteopontin, Tamm-Horsfall protein, or both. Am J Physiol Renal Physiol. 2007;293:F1935-43 pubmed
    ..Here, we show that 10% of the mice lacking osteopontin (OPN) and 14.3% of the mice lacking Tamm-Horsfall protein (THP) spontaneously form interstitial deposits of calcium phosphate within the renal papillae, events never seen in wild-..
  8. Kemter E, Rathkolb B, Rozman J, Hans W, Schrewe A, Landbrecht C, et al. Novel missense mutation of uromodulin in mice causes renal dysfunction with alterations in urea handling, energy, and bone metabolism. Am J Physiol Renal Physiol. 2009;297:F1391-8 pubmed publisher
    b>Uromodulin-associated kidney disease is a heritable renal disease in humans caused by mutations in the uromodulin (UMOD) gene. The pathogenesis of the disease is mostly unknown...
  9. Liu Y, Mo L, Goldfarb D, Evan A, Liang F, Khan S, et al. Progressive renal papillary calcification and ureteral stone formation in mice deficient for Tamm-Horsfall protein. Am J Physiol Renal Physiol. 2010;299:F469-78 pubmed publisher
    ..of macromolecule proteins that play critical roles in renal stone formation, among which Tamm-Horsfall protein (THP) is by far the most abundant...

More Information


  1. Bachmann S, Mutig K, Bates J, Welker P, Geist B, Gross V, et al. Renal effects of Tamm-Horsfall protein (uromodulin) deficiency in mice. Am J Physiol Renal Physiol. 2005;288:F559-67 pubmed
    The Tamm-Horsfall protein (THP; uromodulin), the dominant protein in normal urine, is produced exclusively in the thick ascending limb of Henle's loop...
  2. Mo L, Huang H, Zhu X, Shapiro E, Hasty D, Wu X. Tamm-Horsfall protein is a critical renal defense factor protecting against calcium oxalate crystal formation. Kidney Int. 2004;66:1159-66 pubmed
    ..Here we examined the role of Tamm-Horsfall protein (THP), the principal urinary protein, in urinary defense against renal calcium crystal formation, using a THP knockout ..
  3. Mutig K, Kahl T, Saritas T, Godes M, Persson P, Bates J, et al. Activation of the bumetanide-sensitive Na+,K+,2Cl- cotransporter (NKCC2) is facilitated by Tamm-Horsfall protein in a chloride-sensitive manner. J Biol Chem. 2011;286:30200-10 pubmed publisher
    ..Co-expressed Tamm-Horsfall protein (THP) has been proposed to interact with NKCC2. We hypothesized that THP modulates NKCC2 activity in TAL...
  4. Schaeffer C, Cattaneo A, Trudu M, Santambrogio S, Bernascone I, Giachino D, et al. Urinary secretion and extracellular aggregation of mutant uromodulin isoforms. Kidney Int. 2012;81:769-78 pubmed publisher
    b>Uromodulin is exclusively expressed in the thick ascending limb and is the most abundant protein secreted in urine where it is found in high-molecular-weight polymers...
  5. Trudu M, Janas S, Lanzani C, Debaix H, Schaeffer C, Ikehata M, et al. Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression. Nat Med. 2013;19:1655-60 pubmed publisher
    ..genome-wide association studies have identified common variants in the promoter of the UMOD gene, which encodes uromodulin, the major protein secreted in normal urine, that cause independent susceptibility to CKD and hypertension...
  6. Kemter E, Prückl P, Rathkolb B, Micklich K, Adler T, Becker L, et al. Standardized, systemic phenotypic analysis of Umod(C93F) and Umod(A227T) mutant mice. PLoS ONE. 2013;8:e78337 pubmed publisher
    b>Uromodulin-associated kidney disease (UAKD) summarizes different clinical features of an autosomal dominant heritable disease syndrome in humans with a proven uromodulin (UMOD) mutation involved...
  7. Kemter E, Sklenak S, Rathkolb B, Hrabe de Angelis M, Wolf E, Aigner B, et al. No amelioration of uromodulin maturation and trafficking defect by sodium 4-phenylbutyrate in vivo: studies in mouse models of uromodulin-associated kidney disease. J Biol Chem. 2014;289:10715-26 pubmed publisher
    b>Uromodulin (UMOD)-associated kidney disease (UAKD) belongs to the hereditary progressive ER storage diseases caused by maturation defects of mutant UMOD protein...
  8. Renigunta A, Renigunta V, Saritas T, Decher N, Mutig K, Waldegger S. Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function. J Biol Chem. 2011;286:2224-35 pubmed publisher
    Tamm-Horsfall glycoprotein (THGP) or Uromodulin is a membrane protein exclusively expressed along the thick ascending limb (TAL) and early distal convoluted tubule (DCT) of the nephron...
  9. Santambrogio S, Cattaneo A, Bernascone I, Schwend T, Jovine L, Bachi A, et al. Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage. Biochem Biophys Res Commun. 2008;370:410-3 pubmed publisher
    b>Uromodulin (or Tamm-Horsfall protein) is the most abundant protein in human urine under physiological conditions. Little is known about the molecular mechanism of uromodulin secretion...
  10. Micanovic R, Chitteti B, Dagher P, Srour E, Khan S, Hato T, et al. Tamm-Horsfall Protein Regulates Granulopoiesis and Systemic Neutrophil Homeostasis. J Am Soc Nephrol. 2015;26:2172-82 pubmed publisher
    Tamm-Horsfall protein (THP) is a glycoprotein uniquely expressed in the kidney...
  11. Kemter E, Prueckl P, Sklenak S, Rathkolb B, Habermann F, Hans W, et al. Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice. Hum Mol Genet. 2013;22:4148-63 pubmed publisher
    b>Uromodulin-associated kidney disease (UAKD) is a dominant heritable renal disease in humans which is caused by mutations in the uromodulin (UMOD) gene and characterized by heterogeneous clinical appearance...
  12. Kobayashi K, Yanagihara K, Ishiguro K, Fukuoka S. GP2/THP gene family of self-binding, GPI-anchored proteins forms a cluster at chromosome 7F1 region in mouse genome. Biochem Biophys Res Commun. 2004;322:659-64 pubmed
    ..Using FISH, the GP2 gene was mapped to mouse chromosome 7F1 near the gene for THP, a GP2 homolog expressed in the cells of thick ascending loop of Henle (TALH) in the kidney...
  13. Fukuoka S, Matsuda Y. Assignment of the Tamm-Horsfall protein/uromodulin gene (Umod) to mouse chromosome bands 7F1-F2 and rat chromosome bands 1q36-->q37 by in situ hybridization. Cytogenet Cell Genet. 1997;79:241-2 pubmed
  14. Saburi S, Hester I, Fischer E, Pontoglio M, Eremina V, Gessler M, et al. Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease. Nat Genet. 2008;40:1010-5 pubmed publisher
    ..In addition, Fat4 represses Fjx1 expression, indicating that Fat signaling is conserved. Together, these data suggest that Fat4 regulates vertebrate PCP and that loss of PCP signaling may underlie some cystic diseases in humans. ..
  15. Chen Y, Chiang H, Litchfield P, Pena M, Juang C, Riley D. Expression of Nek1 during kidney development and cyst formation in multiple nephron segments in the Nek1-deficient kat2J mouse model of polycystic kidney disease. J Biomed Sci. 2014;21:63 pubmed publisher
    ..Our studies indicate that Nek1 deficiency leads to disordered kidney maturation, and cysts throughout the nephron. ..
  16. Tanaka M, Endo S, Okuda T, Economides A, Valenzuela D, Murphy A, et al. Expression of BMP-7 and USAG-1 (a BMP antagonist) in kidney development and injury. Kidney Int. 2008;73:181-91 pubmed
    ..Our study suggests that USAG-1 expression in a kidney biopsy could be useful in predicting outcome. ..
  17. Kone B, Schwobel J, Turner P, Mohaupt M, Cangro C. Role of NF-kappa B in the regulation of inducible nitric oxide synthase in an MTAL cell line. Am J Physiol. 1995;269:F718-29 pubmed
    ..In contrast to other cell types, cycloheximide did not alter iNOS mRNA stability, and 8-BrcAMP did not alter basal or LPS+IF-gamma induced NO production in ST-1 cells...
  18. Recuenco M, Ohmori T, Tanigawa S, Taguchi A, Fujimura S, Conti M, et al. Nonmuscle Myosin II Regulates the Morphogenesis of Metanephric Mesenchyme-Derived Immature Nephrons. J Am Soc Nephrol. 2015;26:1081-91 pubmed publisher
    ..Our data also suggest that Myh9 deletion in mice results in failure to maintain renal tubules but not in glomerulosclerosis. ..
  19. Dou W, Thompson Jaeger S, Laulederkind S, Becker J, Montgomery J, Ruiz Bustos E, et al. Defective expression of Tamm-Horsfall protein/uromodulin in COX-2-deficient mice increases their susceptibility to urinary tract infections. Am J Physiol Renal Physiol. 2005;289:F49-60 pubmed
    ..on their ages, the genes encoding pre-pro-epidermal growth factor (pre-pro-EGF) and Tamm-Horsfall protein (THP)/uromodulin were aberrantly expressed in the kidneys of COX-2 -/- mice at all stages of their development...
  20. El Achkar T, Wu X, Rauchman M, McCracken R, Kiefer S, Dagher P. Tamm-Horsfall protein protects the kidney from ischemic injury by decreasing inflammation and altering TLR4 expression. Am J Physiol Renal Physiol. 2008;295:F534-44 pubmed publisher
    Tamm-Horsfall protein (THP) is a glycoprotein with unclear functions expressed exclusively in thick ascending limbs (TAL) of the kidney...
  21. Arend L, Smart A, Briggs J. Metanephric rat-mouse chimeras to study cell lineage of the nephron. Dev Genet. 1999;24:230-40 pubmed
    ..present study evaluated the expression of four relatively well-localized molecules--renin, Tamm-Horsfall protein (THP), oxytocin receptor (OTR), and the vasopressin type 2 receptor (V2R)--in cultured mouse-rat chimeric metanephric ..
  22. Johnson B, Dang L, Marsh G, Roach A, Levine Z, Monti A, et al. Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis. J Clin Invest. 2017;127:3954-3969 pubmed publisher
    b>Uromodulin-associated kidney disease (UAKD) is caused by mutations in the uromodulin (UMOD) gene that result in a misfolded form of UMOD protein, which is normally secreted by nephrons...
  23. Georgas K, Rumballe B, Wilkinson L, Chiu H, Lesieur E, Gilbert T, et al. Use of dual section mRNA in situ hybridisation/immunohistochemistry to clarify gene expression patterns during the early stages of nephron development in the embryo and in the mature nephron of the adult mouse kidney. Histochem Cell Biol. 2008;130:927-42 pubmed publisher
    ..We have analysed in detail the protein expression of Wt1, Calb1 Aqp1, Aqp2 and Umod using these antibodies...
  24. Garcia Gonzalez M, Menezes L, Piontek K, Kaimori J, Huso D, Watnick T, et al. Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Hum Mol Genet. 2007;16:1940-50 pubmed
    ..These studies are the first to show genetic interaction between the major loci responsible for human renal cystic disease in a common PKD pathway...
  25. Walter B, Schlechter T, Hergt M, Berger I, Hofmann I. Differential expression pattern of protein ARVCF in nephron segments of human and mouse kidney. Histochem Cell Biol. 2008;130:943-56 pubmed publisher
    ..This prominent cytoplasmic localization of ARVCF in cultured cells and its occurrence in proximal tubules implies an involvement of ARVCF in specific functional processes of proximal tubules of kidney. ..
  26. Shen H, Xu Z, Huang L, Liu D, Lin D, Cao J, et al. Liver-specific ZP domain-containing protein (LZP) as a new partner of Tamm-Horsfall protein harbors on renal tubules. Mol Cell Biochem. 2009;321:73-83 pubmed publisher
    ..In rat kidney LZP and Tamm-Horsfall protein (THP) were co-localized in TAL...
  27. Lian P, Li A, Li Y, Liu H, Liang D, Hu B, et al. Loss of polycystin-1 inhibits Bicc1 expression during mouse development. PLoS ONE. 2014;9:e88816 pubmed publisher
    ..Our findings demonstrate that Bicc1 is developmentally regulated and reveal a new molecular link between Bicc1 and Pkd1. ..
  28. Ihermann Hella A, Lume M, Miinalainen I, Pirttiniemi A, Gui Y, Peranen J, et al. Mitogen-activated protein kinase (MAPK) pathway regulates branching by remodeling epithelial cell adhesion. PLoS Genet. 2014;10:e1004193 pubmed publisher
    ..We show that MAPK activity is required for branching morphogenesis, and propose that it promotes cell cycle progression and higher cellular motility through remodeling of cellular adhesions. ..
  29. Wang W, Tang Y, Ni L, Kim E, Jongwutiwes T, Hourvitz A, et al. Overexpression of Uromodulin-like1 accelerates follicle depletion and subsequent ovarian degeneration. Cell Death Dis. 2012;3:e433 pubmed publisher
    Murine Uromodulin-like 1 (Umodl1) encodes Ca(2+)-dependent EGF-like membrane-bound proteins. This study presents its novel expression in the immune and female reproductive systems...
  30. Legallicier B, Trugnan G, Murphy G, Lelongt B, Ronco P. Expression of the type IV collagenase system during mouse kidney development and tubule segmentation. J Am Soc Nephrol. 2001;12:2358-69 pubmed
    ..These results suggest that a regulated balance of gelatinase activity is required during kidney organogenesis and that gelatinases continue to play a role in adult renal tubule physiology. ..
  31. Yasuda M, Kaneko K, Kaneko K, Hachisu H, Yamaoka N, Mawatari K, et al. Detection of mutant uromodulin in transgenic mouse harboring a mutant human UMOD gene. Nucleosides Nucleotides Nucleic Acids. 2011;30:1284-9 pubmed publisher
    b>Uromodulin is the most abundant protein secreted in urine, and the mutated form of the uromodulin gene is associated with uromodulin-associated kidney disease (UAKD)...
  32. Ma L, Liu Y, El Achkar T, Wu X. Molecular and cellular effects of Tamm-Horsfall protein mutations and their rescue by chemical chaperones. J Biol Chem. 2012;287:1290-305 pubmed publisher
    ..Both mutants were able to specifically bind and trap the wild-type Tamm-Horsfall protein (THP) and prevent it from exiting the ER and translocating to the cell surface...
  33. Ishiguro K, Kadomatsu K, Kojima T, Muramatsu H, Matsuo S, Kusugami K, et al. Syndecan-4 deficiency increases susceptibility to kappa-carrageenan-induced renal damage. Lab Invest. 2001;81:509-16 pubmed
    ..After administration of kappa-carrageenan, blood urea nitrogen of Synd4(-/-) mice was significantly higher than that of Synd4(+/+) mice. Thus, syndecan-4 may function to prevent kappa-carrageenan deposition in the collecting ducts. ..
  34. El Achkar T, McCracken R, Liu Y, Heitmeier M, Bourgeois S, Ryerse J, et al. Tamm-Horsfall protein translocates to the basolateral domain of thick ascending limbs, interstitium, and circulation during recovery from acute kidney injury. Am J Physiol Renal Physiol. 2013;304:F1066-75 pubmed publisher
    Tamm-Horsfall protein (THP) is a glycoprotein normally targeted to the apical membrane domain of the kidney's thick ascending limbs (TAL)...
  35. Graham L, Padmanabhan S, Fraser N, Kumar S, Bates J, Raffi H, et al. Validation of uromodulin as a candidate gene for human essential hypertension. Hypertension. 2014;63:551-8 pubmed publisher
    A recent genome-wide association study identified a locus on chromosome 16 in the promoter region of the uromodulin (UMOD) gene that is associated with hypertension...
  36. Prasadan K, Bates J, Badgett A, Dell M, Sukhatme V, Yu H, et al. Nucleotide sequence and peptide motifs of mouse uromodulin (Tamm-Horsfall protein)--the most abundant protein in mammalian urine. Biochim Biophys Acta. 1995;1260:328-32 pubmed
    The mouse uromodulin cDNA sequence was sequenced...
  37. Liu Z, Brunskill E, Boyle S, Chen S, Turkoz M, Guo Y, et al. Second-generation Notch1 activity-trap mouse line (N1IP::CreHI) provides a more comprehensive map of cells experiencing Notch1 activity. Development. 2015;142:1193-202 pubmed publisher
  38. Grieshammer U, Cebrian C, Ilagan R, Meyers E, Herzlinger D, Martin G. FGF8 is required for cell survival at distinct stages of nephrogenesis and for regulation of gene expression in nascent nephrons. Development. 2005;132:3847-57 pubmed
    ..Thus, unlike other FGF family members, which regulate growth and branching morphogenesis of the collecting duct system, Fgf8 encodes a factor essential for gene regulation and cell survival at distinct steps in nephrogenesis. ..
  39. Chen J, Boyle S, Zhao M, Su W, Takahashi K, Davis L, et al. Differential expression of the intermediate filament protein nestin during renal development and its localization in adult podocytes. J Am Soc Nephrol. 2006;17:1283-91 pubmed
    ..In the adult kidney, nestin expression is restricted to differentiated podocytes, suggesting that nestin could play an important role in maintaining the structural integrity of the podocytes. ..
  40. Cui J, Li X, Duan Z, Xue W, Wang Z, Lu S, et al. Analysis of Kif5b expression during mouse kidney development. PLoS ONE. 2015;10:e0126002 pubmed publisher
  41. Mao Y, Francis West P, Irvine K. Fat4/Dchs1 signaling between stromal and cap mesenchyme cells influences nephrogenesis and ureteric bud branching. Development. 2015;142:2574-85 pubmed publisher
  42. El Achkar T, Plotkin Z, Marcic B, Dagher P. Sepsis induces an increase in thick ascending limb Cox-2 that is TLR4 dependent. Am J Physiol Renal Physiol. 2007;293:F1187-96 pubmed
    ..The TLR4-dependent Cox-2 expression is mostly restricted to cortical and medullary thick ascending loops of Henle that characteristically express and secrete Tamm-Horsfall protein. ..
  43. Yuan H, Suri C, Yancopoulos G, Woolf A. Expression of angiopoietin-1, angiopoietin-2, and the Tie-2 receptor tyrosine kinase during mouse kidney maturation. J Am Soc Nephrol. 1999;10:1722-36 pubmed
    ..These data are consistent with the hypothesis that Tie-2 has roles in maturation of both glomeruli and vasa rectae. ..
  44. Heitmeier M, McCracken R, Micanovic R, Khan S, El Achkar T. The role of tumor necrosis factor alpha in regulating the expression of Tamm-Horsfall Protein (uromodulin) in thick ascending limbs during kidney injury. Am J Nephrol. 2014;40:458-67 pubmed publisher
    Tamm-Horsfall Protein (THP) is a glycoprotein expressed exclusively by cells of the thick ascending loop (TAL) of Henle...
  45. Wolf M, Wu X, Huang C. Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis. Kidney Int. 2013;84:130-7 pubmed publisher
    b>Uromodulin (UMOD) is synthesized in the thick ascending limb and secreted into urine as the most abundant protein. Association studies in humans suggest protective effects of UMOD against calcium-containing kidney stones...
  46. Horsch M, Beckers J, Fuchs H, Gailus Durner V, HrabÄ› de Angelis M, Rathkolb B, et al. Uromodulin retention in thick ascending limb of Henle's loop affects SCD1 in neighboring proximal tubule: renal transcriptome studies in mouse models of uromodulin-associated kidney disease. PLoS ONE. 2014;9:e113125 pubmed publisher
    b>Uromodulin-associated kidney disease (UAKD) is a hereditary progressive renal disease which can lead to renal failure and requires renal replacement therapy...
  47. Zhu X, Cheng J, Gao J, Lepor H, Zhang Z, Pak J, et al. Isolation of mouse THP gene promoter and demonstration of its kidney-specific activity in transgenic mice. Am J Physiol Renal Physiol. 2002;282:F608-17 pubmed
    Tamm-Horsfall protein (THP), the most abundant urinary protein synthesized by the kidney epithelial cells, is believed to play important and diverse roles in the urinary system, including renal water balance, immunosuppression, urinary ..
  48. Kim Y, Kim W, Nam S, Choi A, Kim H, Kim Y, et al. Role of Prox1 in the Transforming Ascending Thin Limb of Henle's Loop during Mouse Kidney Development. PLoS ONE. 2015;10:e0127429 pubmed publisher
    ..Together, these studies suggest that Prox1 appears to be a critical stage specific regulator of specifying ascending thin limb cell fate and that its expression is regulated by osmolality. ..
  49. Piret S, Olinger E, Reed A, Nesbit M, Hough T, Bentley L, et al. A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress. Dis Model Mech. 2017;10:773-786 pubmed publisher
    ..tubular disorder, referred to as autosomal dominant tubulointerstitial kidney disease (ADTKD) due to missense uromodulin (UMOD) mutations (ADTKD-UMOD)...
  50. Jouret F, Igarashi T, Gofflot F, Wilson P, Karet F, Thakker R, et al. Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5. Kidney Int. 2004;65:198-208 pubmed
    ..These data give insight into PT and IC maturation, and explain early phenotypic variants of Dent's disease. ..
  51. Brzóska H, d Esposito A, Kolatsi Joannou M, Patel V, Igarashi P, Lei Y, et al. Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning. Kidney Int. 2016;90:1274-1284 pubmed publisher
    ..Thus, PCP genes are important in mammalian kidney development and have an unexpected role in rostrocaudal patterning during organogenesis. ..
  52. Raffi H, Bates J, Kumar S, Laszik Z, Buffington C. Tamm-Horsfall protein knockout mice have increased stress induced micturition. Neurourol Urodyn. 2009;28:469 pubmed publisher
  53. Trzpis M, Popa E, McLaughlin P, van Goor H, Timmer A, Bosman G, et al. Spatial and temporal expression patterns of the epithelial cell adhesion molecule (EpCAM/EGP-2) in developing and adult kidneys. Nephron Exp Nephrol. 2007;107:e119-31 pubmed
    ..The spatiotemporal expression pattern of EpCAM changes during nephrogenesis. In the adult kidney, the expression varies markedly along the nephron. These data provide a basis for further studies on EpCAM in developing and adult kidneys. ..
  54. Ma L, Liu Y, Landry N, El Achkar T, Lieske J, Wu X. Point mutation in D8C domain of Tamm-Horsfall protein/uromodulin in transgenic mice causes progressive renal damage and hyperuricemia. PLoS ONE. 2017;12:e0186769 pubmed publisher
    Hereditary mutations in Tamm-Horsfall protein (THP/uromodulin) gene cause autosomal dominant kidney diseases characterized by juvenile-onset hyperuricemia, gout and progressive kidney failure, although the disease pathogenesis remains ..
  55. Qu Y, Du E, Zhang Y, Li S, Han R, Qiu M. Changes in the expression of bone morphogenetic protein 7 and tamm- horsfall protein in the early stages of diabetic nephropathy. Nephrourol Mon. 2012;4:466-9 pubmed publisher
    ..we studied the expression of BMP7 and 2 important kidney-specific markers, podocin and Tamm-Horsfall protein (THP)...
  56. Sakaguchi M, Sharmin S, Taguchi A, Ohmori T, Fujimura S, Abe T, et al. The phosphatase Dullard negatively regulates BMP signalling and is essential for nephron maintenance after birth. Nat Commun. 2013;4:1398 pubmed publisher
    ..Thus, Dullard keeps BMP signalling at an appropriate level, which is required for nephron maintenance in the postnatal period. ..
  57. Stuiver M, Lainez S, Will C, Terryn S, Gunzel D, Debaix H, et al. CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia. Am J Hum Genet. 2011;88:333-43 pubmed publisher
    ..The mutations found in CNNM2, its observed sensitivity to extracellular Mg(2+), and its basolateral localization signify a critical role for CNNM2 in epithelial Mg(2+) transport. ..
  58. Ye X, Wang Y, Rattner A, Nathans J. Genetic mosaic analysis reveals a major role for frizzled 4 and frizzled 8 in controlling ureteric growth in the developing kidney. Development. 2011;138:1161-72 pubmed publisher
  59. Caubit X, Lye C, Martin E, Coré N, Long D, Vola C, et al. Teashirt 3 is necessary for ureteral smooth muscle differentiation downstream of SHH and BMP4. Development. 2008;135:3301-10 pubmed publisher
  60. Nechiporuk T, Fernandez T, Vasioukhin V. Failure of epithelial tube maintenance causes hydrocephalus and renal cysts in Dlg5-/- mice. Dev Cell. 2007;13:338-50 pubmed
    ..These findings show that Dlg5 is causally involved in hydrocephalus and renal cysts and reveal that targeted membrane delivery of cadherin-catenin adhesion complexes is critical for cell polarity and epithelial tube maintenance. ..
  61. Hashemolhosseini S, Hadjihannas M, Stolt C, Haas C, Amann K, Wegner M. Restricted expression of mouse GCMa/Gcm1 in kidney and thymus. Mech Dev. 2002;118:175-8 pubmed
    ..In thymus, mGCMa is restricted to few small clusters of cells, in kidney to the S3 segment of proximal tubules. mGCMa expression is primarily postnatal, arguing for a role in organ function rather than organ development. ..
  62. Takahashi T, Takahashi K, Gerety S, Wang H, Anderson D, Daniel T. Temporally compartmentalized expression of ephrin-B2 during renal glomerular development. J Am Soc Nephrol. 2001;12:2673-82 pubmed
    ..Thus, the present results suggest that ephrin-B2 and EphB interactions play an important role in glomerular microvascular assembly. ..
  63. Doggett N, Callen D. Report and abstracts of the third international workshop on human chromosome 16 mapping 1994. Pittsburgh, Pennsylvania, May 7-9, 1994. Cytogenet Cell Genet. 1995;68:165-84 pubmed
  64. Garcia Gonzalez M, Outeda P, Zhou Q, Zhou F, Menezes L, Qian F, et al. Pkd1 and Pkd2 are required for normal placental development. PLoS ONE. 2010;5: pubmed publisher
    ..Endothelial cell specific deletion of Pkd1 or Pkd2 recapitulates a subset of findings seen in Pkd null animals. Our studies reveal a complex role for polycystins in maintaining vascular integrity. ..
  65. Hossain Z, Ali S, Ko H, Xu J, Ng C, Guo K, et al. Glomerulocystic kidney disease in mice with a targeted inactivation of Wwtr1. Proc Natl Acad Sci U S A. 2007;104:1631-6 pubmed
    ..Thus, Wwtr1 is critical for the integrity of renal cilia and its absence in mice leads to the development of renal cysts, indicating that Wwtr1 may represent a candidate gene for polycystic kidney disease in humans. ..
  66. Bates C, Kegg H, Grady S. Expression of somatostatin in the adult and developing mouse kidney. Kidney Int. 2004;66:1785-93 pubmed
    ..Expression in the thin descending limb persists in the adult kidney. ..
  67. Schaeffer C, Merella S, Pasqualetto E, Lazarevic D, Rampoldi L. Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response. PLoS ONE. 2017;12:e0175970 pubmed publisher
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