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Female development in mammals is regulated by Wnt-4 signalling
In the mammalian embryo, both sexes are initially morphologically indistinguishable: specific hormones are required for sex-specific development. Müllerian inhibiting substance and testosterone… Expand
β‐catenin is a target for the ubiquitin–proteasome pathway
β‐catenin is a central component of the cadherin cell adhesion complex and plays an essential role in the Wingless/Wnt signaling pathway. In the current model of this pathway, the amount of β‐catenin… Expand
beta-catenin is a target for the ubiquitin-proteasome pathway.
beta-catenin is a central component of the cadherin cell adhesion complex and plays an essential role in the Wingless/Wnt signaling pathway. In the current model of this pathway, the amount of… Expand
A primary requirement for nodal in the formation and maintenance of the primitive streak in the mouse.
The 413.d insertional mutation arrests mouse development shortly after gastrulation. nodal, a novel TGF beta-related gene, is closely associated with the locus. The present study provides direct… Expand
Wnt-4 is a mesenchymal signal for epithelial transformation of metanephric mesenchyme in the developing kidney.
Development of the mammalian kidney is initiated by ingrowth of the ureteric bud into the metanephric blastema. In response to signal(s) from the ureter, mesenchymal cells condense, aggregate into… Expand
Wnt11 and Ret/Gdnf pathways cooperate in regulating ureteric branching during metanephric kidney development
Reciprocal cell-cell interactions between the ureteric epithelium and the metanephric mesenchyme are needed to drive growth and differentiation of the embryonic kidney to completion. Branching… Expand
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
- Bernward Hinkes, R. Wiggins, +44 authors F. Hildebrandt
- Medicine, Biology
- Nature Genetics
- 5 December 2006
Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, edema and, in steroid-resistant nephrotic syndrome, end-stage kidney disease. Using positional cloning, we… Expand
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, leads to chronic renal failure in children. The genes mutated in NPHP1 and NPHP4 have been identified, and a gene locus… Expand
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification of three genes that code for renal transporters and channels as… Expand
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in children and young adults, and its association with retinal degeneration and cerebellar vermis aplasia in… Expand