Development of ureteric derived collecting system (Homo sapiens)

From WikiPathways

Description

Quality Tags

Ontology Terms

Saving...

Bibliography

1. Pitera JE, Scambler PJ, Woolf AS; ''Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.''; Hum Mol Genet, 2008 PubMed Europe PMC Scholia
2. Brodbeck S, Besenbeck B, Englert C; ''The transcription factor Six2 activates expression of the Gdnf gene as well as its own promoter.''; Mech Dev, 2004 PubMed Europe PMC Scholia
3. Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F; ''SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.''; Proc Natl Acad Sci U S A, 2004 PubMed Europe PMC Scholia
4. Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C; ''Targeted Exome Sequencing IdentifiesPBX1as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.''; J Am Soc Nephrol, 2017 PubMed Europe PMC Scholia
5. Duke V, Quinton R, Gordon I, Bouloux PM, Woolf AS; ''Proteinuria, hypertension and chronic renal failure in X-linked Kallmann's syndrome, a defined genetic cause of solitary functioning kidney.''; Nephrol Dial Transplant, 1998 PubMed Europe PMC Scholia
6. Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG; ''Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.''; Am J Hum Genet, 2017 PubMed Europe PMC Scholia
7. Oh SP, Yeo CY, Lee Y, Schrewe H, Whitman M, Li E; ''Activin type IIA and IIB receptors mediate Gdf11 signaling in axial vertebral patterning.''; Genes Dev, 2002 PubMed Europe PMC Scholia
8. Gamer LW, Cox KA, Small C, Rosen V; ''Gdf11 is a negative regulator of chondrogenesis and myogenesis in the developing chick limb.''; Dev Biol, 2001 PubMed Europe PMC Scholia
9. McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ; ''Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.''; Nat Genet, 2003 PubMed Europe PMC Scholia
10. Michos O, Gonçalves A, Lopez-Rios J, Tiecke E, Naillat F, Beier K, Galli A, Vainio S, Zeller R; ''Reduction of BMP4 activity by gremlin 1 enables ureteric bud outgrowth and GDNF/WNT11 feedback signalling during kidney branching morphogenesis.''; Development, 2007 PubMed Europe PMC Scholia
11. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W; ''Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.''; Nat Genet, 1998 PubMed Europe PMC Scholia
12. Valerius MT, Patterson LT, Feng Y, Potter SS; ''Hoxa 11 is upstream of Integrin alpha8 expression in the developing kidney.''; Proc Natl Acad Sci U S A, 2002 PubMed Europe PMC Scholia
13. Hardelin JP, Julliard AK, Moniot B, Soussi-Yanicostas N, Verney C, Schwanzel-Fukuda M, Ayer-Le Lievre C, Petit C; ''Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome.''; Dev Dyn, 1999 PubMed Europe PMC Scholia
14. Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ; ''Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.''; Nat Genet, 2005 PubMed Europe PMC Scholia
15. De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, Fouquet S, Desgrange A, Niel O, Bole-Feysot C, Nitschké P, Roume J, Cordier MP, Pietrement C, Isidor B, Khau Van Kien P, Gonzales M, Saint-Frison MH, Martinovic J, Novo R, Piard J, Cabrol C, Verma IC, Puri R, Journel H, Aziza J, Gavard L, Said-Menthon MH, Heidet L, Saunier S, Jeanpierre C; ''Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.''; Am J Hum Genet, 2017 PubMed Europe PMC Scholia
16. van der Ven AT, Vivante A, Hildebrandt F; ''Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.''; J Am Soc Nephrol, 2018 PubMed Europe PMC Scholia
17. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, König R, Vigneron J, Weissenbach J, Petit C, Weil D; ''Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.''; Hum Mol Genet, 1997 PubMed Europe PMC Scholia
18. Gong KQ, Yallowitz AR, Sun H, Dressler GR, Wellik DM; ''A Hox-Eya-Pax complex regulates early kidney developmental gene expression.''; Mol Cell Biol, 2007 PubMed Europe PMC Scholia
19. Blake J, Hu D, Cain JE, Rosenblum ND; ''Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.''; Hum Mol Genet, 2016 PubMed Europe PMC Scholia
20. Cain JE, Islam E, Haxho F, Chen L, Bridgewater D, Nieuwenhuis E, Hui CC, Rosenblum ND; ''GLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells.''; PLoS One, 2009 PubMed Europe PMC Scholia
21. Rowan CJ, Li W, Martirosyan H, Erwood S, Hu D, Kim YK, Sheybani-Deloui S, Mulder J, Blake J, Chen L, Rosenblum ND; ''Hedgehog-GLI signaling inFoxd1-positive stromal cells promotes murine nephrogenesis via TGFβ signaling.''; Development, 2018 PubMed Europe PMC Scholia
22. Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, Clarke JC, Peterson KA, Denegre J, Schneider M, Sussman CR, Sunde L, Lildballe DL, Hertz JM, Cornell RA, Murray SA, Manak JR; ''A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.''; Genetics, 2017 PubMed Europe PMC Scholia
23. Kiyozumi D, Sugimoto N, Sekiguchi K; ''Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.''; Proc Natl Acad Sci U S A, 2006 PubMed Europe PMC Scholia
24. Rasmussen M, Sunde L, Nielsen ML, Ramsing M, Petersen A, Hjortshøj TD, Olsen TE, Tabor A, Hertz JM, Johnsen I, Sperling L, Petersen OB, Jensen UB, Møller FG, Petersen MB, Lildballe DL; ''Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.''; Clin Genet, 2018 PubMed Europe PMC Scholia
25. Kiyozumi D, Sugimoto N, Nakano I, Sekiguchi K; ''Frem3, a member of the 12 CSPG repeats-containing extracellular matrix protein family, is a basement membrane protein with tissue distribution patterns distinct from those of Fras1, Frem2, and QBRICK/Frem1.''; Matrix Biol, 2007 PubMed Europe PMC Scholia
26. Linton JM, Martin GR, Reichardt LF; ''The ECM protein nephronectin promotes kidney development via integrin alpha8beta1-mediated stimulation of Gdnf expression.''; Development, 2007 PubMed Europe PMC Scholia
27. Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R; ''Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.''; J Am Soc Nephrol, 2006 PubMed Europe PMC Scholia
28. Hu MC, Mo R, Bhella S, Wilson CW, Chuang PT, Hui CC, Rosenblum ND; ''''; , PubMed Europe PMC Scholia
29. Pitera JE, Woolf AS, Basson MA, Scambler PJ; ''Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.''; J Am Soc Nephrol, 2012 PubMed Europe PMC Scholia
30. Brzóska H�, d'Esposito AM, Kolatsi-Joannou M, Patel V, Igarashi P, Lei Y, Finnell RH, Lythgoe MF, Woolf AS, Papakrivopoulou E, Long DA; ''Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning.''; Kidney Int, 2016 PubMed Europe PMC Scholia

History

External references

DataNodes

Name	Type	Database reference	Comment
ANOS1	GeneProduct	ENSG00000011201 (Ensembl)	also known as KAL-1, KAL1
BMP2	GeneProduct	ENSG00000125845 (Ensembl)	found only in mouse so far
BMP4	GeneProduct	ENSG00000125378 (Ensembl)
BMP5	GeneProduct	ENSG00000112175 (Ensembl)	found only in mouse so far
BMP7	GeneProduct	ENSG00000101144 (Ensembl)	found only in mouse so far
BMPER	GeneProduct	ENSG00000164619 (Ensembl)
BMPR1A	GeneProduct	ENSG00000107779 (Ensembl)
BMPR2	GeneProduct	ENSG00000204217 (Ensembl)
CCND1	GeneProduct	ENSG00000110092 (Ensembl)	CyclinD1
CELSR1	GeneProduct	ENSG00000075275 (Ensembl)
CRIM1	GeneProduct	ENSG00000150938 (Ensembl)	found only in mouse so far
CTDNEP1	GeneProduct	ENSG00000175826 (Ensembl)	found only in mouse so far
CTNNB1	GeneProduct	ENSG00000168036 (Ensembl)
Cyclopamine	Metabolite	CHEBI:4021 (ChEBI)
ETV4	GeneProduct	ENSG00000175832 (Ensembl)
EYA1	GeneProduct	ENSG00000104313 (Ensembl)
FAT4	GeneProduct	ENSG00000196159 (Ensembl)
FGFR2	GeneProduct	ENSG00000066468 (Ensembl)
FOXC1	GeneProduct	ENSG00000054598 (Ensembl)
FRAS1	GeneProduct	ENSG00000138759 (Ensembl)
FREM1	GeneProduct	ENSG00000164946 (Ensembl)
FREM2	GeneProduct	ENSG00000150893 (Ensembl)
FST	GeneProduct	ENSG00000134363 (Ensembl)	found only in mouse so far
GATA3	GeneProduct	ENSG00000107485 (Ensembl)
GDF11	GeneProduct	ENSG00000135414 (Ensembl)
GDNF	GeneProduct	ENSG00000168621 (Ensembl)
GFRA1	GeneProduct	ENSG00000151892 (Ensembl)
GLI1	GeneProduct	ENSG00000111087 (Ensembl)
GLI2	GeneProduct	ENSG00000074047 (Ensembl)
GLI3	GeneProduct	ENSG00000106571 (Ensembl)
GPC3	GeneProduct	ENSG00000147257 (Ensembl)
GREB1L	GeneProduct	ENSG00000141449 (Ensembl)
GREM1	GeneProduct	ENSG00000276886 (Ensembl)
GRIP1	GeneProduct	ENSG00000155974 (Ensembl)
HOXA11	GeneProduct	ENSG00000005073 (Ensembl)
HOXD11	GeneProduct	ENSG00000128713 (Ensembl)
ILK	GeneProduct	ENSG00000166333 (Ensembl)
ITGA8	GeneProduct	ENSG00000077943 (Ensembl)
ITGB1	GeneProduct	ENSG00000150093 (Ensembl)
LHX1	GeneProduct	ENSG00000273706 (Ensembl)
MYCN	GeneProduct	ENSG00000134323 (Ensembl)	N-MYC
PAX2	GeneProduct	ENSG00000075891 (Ensembl)
PBX1	GeneProduct	ENSG00000185630 (Ensembl)
RARA	GeneProduct	ENSG00000131759 (Ensembl)
RARB	GeneProduct	ENSG00000077092 (Ensembl)
RARG	GeneProduct	ENSG00000172819 (Ensembl)
RET	GeneProduct	ENSG00000165731 (Ensembl)
ROBO1	GeneProduct	ENSG00000169855 (Ensembl)
ROBO2	GeneProduct	ENSG00000185008 (Ensembl)
SALL1	GeneProduct	ENSG00000103449 (Ensembl)
SHH	GeneProduct	ENSG00000164690 (Ensembl)
SIX1	GeneProduct	ENSG00000126778 (Ensembl)
SIX2	GeneProduct	ENSG00000170577 (Ensembl)
SLIT2	GeneProduct	ENSG00000145147 (Ensembl)
SMAD1	GeneProduct	ENSG00000170365 (Ensembl)
SMO	GeneProduct	ENSG00000128602 (Ensembl)
SPRY1	GeneProduct	ENSG00000164056 (Ensembl)
TCF2	Protein	Q6FHW6 (Uniprot-TrEMBL)
TGFB2	GeneProduct	ENSG00000092969 (Ensembl)
VANGL2	GeneProduct	ENSG00000162738 (Ensembl)
WNT11	GeneProduct	ENSG00000085741 (Ensembl)
WT1	GeneProduct	ENSG00000184937 (Ensembl)

Annotated Interactions

No annotated interactions