This pathway describes the gene signaling pathway active in the development of the ureteric collection system in human kidney development. Mutations in essential genes within this pathway can lead to development of CAKUT (congenital anomalies of the kidney and urinary tract).
fde
c94
c94
found only in mouse so far
ad0
CyclinD1
b03
f1d
found only in mouse so far
found only in mouse so far
N-MYC
found only in mouse so far
also known as KAL-1, KAL1
c7b
f3e
e33
e33
d99
a43
found only in mouse so far
e33
fac
dbe
e33
found only in mouse so far
bfb
fbd
a38
e09
b39
c57
bbc
ce8
c9e
de7
bbc
a40
Evidence in mouse only
f5a
bbc
b51
bbc
bbc
cf3
f42
b39
ce8
ce3
eca
bbc
cf3
e16
a40
ce8
dc7
dca
be8
db3
a40
bfb
b39
de7
bbc
bbc
bbc
bbc
bbc
ce8
28739660
PubMed
A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.
Genetics
2017
Brophy PD
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Darbro BW
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Peterson KA
Denegre J
Schneider M
Sussman CR
Sunde L
Lildballe DL
Hertz JM
Cornell RA
Murray SA
Manak JR
9719154
PubMed
Proteinuria, hypertension and chronic renal failure in X-linked Kallmann's syndrome, a defined genetic cause of solitary functioning kidney.
Nephrol Dial Transplant
1998
Duke V
Quinton R
Gordon I
Bouloux PM
Woolf AS
CAKUT
DOID:0080205
Disease
9425907
PubMed
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
Nat Genet
1998
Kohlhase J
Wischermann A
Reichenbach H
Froster U
Engel W
kidney disease
DOID:557
Disease
28566479
PubMed
Targeted Exome Sequencing Identifies<i>PBX1</i>as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
2017
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
kidney cell
CL:1000497
Cell Type
Fraser syndrome
DOID:0090001
Disease
signaling pathway
PW:0000003
Pathway Ontology
9675033
PubMed
9675033
PubMed
Decorin core protein fragment Leu155-Val260 interacts with TGF-beta but does not compete for decorin binding to type I collagen.
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16396903
PubMed
16396903
PubMed
GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis.
Development
2006
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10021334
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Stromal cells mediate retinoid-dependent functions essential for renal development.
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1999
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PubMed
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Nat Genet
2005
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PubMed
Etv4 and Etv5 are required downstream of GDNF and Ret for kidney branching morphogenesis.
Nat Genet
2009
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Cebrian C
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PubMed
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
2017
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Sampson MG
Gillies CE
Vega-Warner V
Vukojevic K
Pediaditakis I
Makar GS
Mitrotti A
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Zaniew M
Mendelsohn CL
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Saraga M
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Scolari F
Tasic V
Ghiggeri GM
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Materna-Kiryluk A
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24357607
PubMed
Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.
Am J Med Genet A
2014
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Kayserili H
Satkın BN
Altunoglu U
Zenker M
17785448
PubMed
A Hox-Eya-Pax complex regulates early kidney developmental gene expression.
Mol Cell Biol
2007
Gong KQ
Yallowitz AR
Sun H
Dressler GR
Wellik DM
12060755
PubMed
Hoxa 11 is upstream of Integrin alpha8 expression in the developing kidney.
Proc Natl Acad Sci U S A
2002
Valerius MT
Patterson LT
Feng Y
Potter SS
15141091
PubMed
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Proc Natl Acad Sci U S A
2004
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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
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11203700
PubMed
Gdf11 is a negative regulator of chondrogenesis and myogenesis in the developing chick limb.
Dev Biol
2001
Gamer LW
Cox KA
Small C
Rosen V
11138002
PubMed
Vitamin A controls epithelial/mesenchymal interactions through Ret expression.
Nat Genet
2001
Batourina E
Gim S
Bello N
Shy M
Clagett-Dame M
Srinivas S
Costantini F
Mendelsohn C
Pallister-Hall syndrome
DOID:9248
Disease
19809516
PubMed
GLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells.
PLoS One
2009
Cain JE
Islam E
Haxho F
Chen L
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12414726
PubMed
Activin type IIA and IIB receptors mediate Gdf11 signaling in axial vertebral patterning.
Genes Dev
2002
Oh SP
Yeo CY
Lee Y
Schrewe H
Whitman M
Li E
29194579
PubMed
Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.
Clin Genet
2018
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Sunde L
Nielsen ML
Ramsing M
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Olsen TE
Tabor A
Hertz JM
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Sperling L
Petersen OB
Jensen UB
Møller FG
Petersen MB
Lildballe DL
26604140
PubMed
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.
Hum Mol Genet
2016
Blake J
Hu D
Cain JE
Rosenblum ND
18787044
PubMed
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
Pitera JE
Scambler PJ
Woolf AS
29079659
PubMed
Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
2018
van der Ven AT
Vivante A
Hildebrandt F
29100091
PubMed
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Am J Hum Genet
2017
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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
10340754
PubMed
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
Hardelin JP
Julliard AK
Moniot B
Soussi-Yanicostas N
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Schwanzel-Fukuda M
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PubMed
Reduction of BMP4 activity by gremlin 1 enables ureteric bud outgrowth and GDNF/WNT11 feedback signalling during kidney branching morphogenesis.
Development
2007
Michos O
Gonçalves A
Lopez-Rios J
Tiecke E
Naillat F
Beier K
Galli A
Vainio S
Zeller R
Kallmann syndrome
DOID:3614
Disease
12766769
PubMed
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
Nat Genet
2003
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Makela V
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Chalepakis G
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Mueller R
Jadeja S
Philip N
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Perez-Aytes A
Megarbane A
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Wainwright B
Woolf AS
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9361030
PubMed
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Hum Mol Genet
1997
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Kalatzis V
Heilig R
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Vincent C
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Cruaud C
Le Merrer M
Mathieu M
König R
Vigneron J
Weissenbach J
Petit C
Weil D
20463033
PubMed
The transcription factors Etv4 and Etv5 mediate formation of the ureteric bud tip domain during kidney development.
Development
2010
Kuure S
Chi X
Lu B
Costantini F
15327782
PubMed
The transcription factor Six2 activates expression of the Gdnf gene as well as its own promoter.
Mech Dev
2004
Brodbeck S
Besenbeck B
Englert C
27597235
PubMed
Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning.
Kidney Int
2016
Brzóska H�
d'Esposito AM
Kolatsi-Joannou M
Patel V
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Lythgoe MF
Woolf AS
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Long DA
17537792
PubMed
The ECM protein nephronectin promotes kidney development via integrin alpha8beta1-mediated stimulation of Gdnf expression.
Development
2007
Linton JM
Martin GR
Reichardt LF
14656760
PubMed
Smad expression during kidney development.
Am J Physiol Renal Physiol
2004
Vrljicak P
Myburgh D
Ryan AK
van Rooijen MA
Mummery CL
Gupta IR
16880404
PubMed
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
Kiyozumi D
Sugimoto N
Sekiguchi K
23064016
PubMed
Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.
J Am Soc Nephrol
2012
Pitera JE
Woolf AS
Basson MA
Scambler PJ
12783789
PubMed
Wnt11 and Ret/Gdnf pathways cooperate in regulating ureteric branching during metanephric kidney development.
Development
2003
Majumdar A
Vainio S
Kispert A
McMahon J
McMahon AP
29945868
PubMed
Hedgehog-GLI signaling in<i>Foxd1-</i>positive stromal cells promotes murine nephrogenesis via TGFβ signaling.
Development
2018
Rowan CJ
Li W
Martirosyan H
Erwood S
Hu D
Kim YK
Sheybani-Deloui S
Mulder J
Blake J
Chen L
Rosenblum ND
17462874
PubMed
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
Kiyozumi D
Sugimoto N
Nakano I
Sekiguchi K