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Cross-talk in kidney development.
Schedl A, Hastie ND. Schedl A, et al. Curr Opin Genet Dev. 2000 Oct;10(5):543-9. doi: 10.1016/s0959-437x(00)00125-8. Curr Opin Genet Dev. 2000. PMID: 10980433 Review.
As in most organs, the emerging theme in kidney development is the importance of cross-talk between several tissues and cell lineages to allow morphogenesis to proceed in a complex but highly regulated way. ...
As in most organs, the emerging theme in kidney development is the importance of cross-talk between several tissues and cell lineages to all …
Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).
Neirijnck Y, Reginensi A, Renkema KY, Massa F, Kozlov VM, Dhib H, Bongers EMHF, Feitz WF, van Eerde AM, Lefebvre V, Knoers NVAM, Tabatabaei M, Schulz H, McNeill H, Schaefer F, Wegner M, Sock E, Schedl A. Neirijnck Y, et al. Kidney Int. 2018 May;93(5):1142-1153. doi: 10.1016/j.kint.2017.11.026. Epub 2018 Feb 17. Kidney Int. 2018. PMID: 29459093
Finally, mutation analysis in a cohort of patients suffering from CAKUT identified a series of rare SOX11 variants, one of which interferes with the transactivation capacity of the SOX11 protein. Taken together these data demonstrate a key role for SOX11 in n …
Finally, mutation analysis in a cohort of patients suffering from CAKUT identified a series of rare SOX11 variants, one of whi …
Early gonadal development: exploring Wt1 and Sox9 function.
Guo JK, Hammes A, Chaboissier MC, Vidal V, Xing Y, Wong F, Schedl A. Guo JK, et al. Novartis Found Symp. 2002;244:23-31; discussion 31-42, 253-7. Novartis Found Symp. 2002. PMID: 11990794 Review.
Prior to sex determination the gonadal anlage is formed as a bipotential primordium with the capacity to differentiate into either testes or ovaries depending on the presence or absence of the Sry gene. ...
Prior to sex determination the gonadal anlage is formed as a bipotential primordium with the capacity to differentiate into either te …
WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis.
Guo JK, Menke AL, Gubler MC, Clarke AR, Harrison D, Hammes A, Hastie ND, Schedl A. Guo JK, et al. Hum Mol Genet. 2002 Mar 15;11(6):651-9. doi: 10.1093/hmg/11.6.651. Hum Mol Genet. 2002. PMID: 11912180
One of the major consequences of podocyte lesions is the accumulation of mesangial matrix in the glomerular basement membrane, a process called glomerulosclerosis. ...Taken together, our data provide genetic evidence that reduced levels of Wt1 are responsible for the patho …
One of the major consequences of podocyte lesions is the accumulation of mesangial matrix in the glomerular basement membrane, a proc …
SOX9 controls epithelial branching by activating RET effector genes during kidney development.
Reginensi A, Clarkson M, Neirijnck Y, Lu B, Ohyama T, Groves AK, Sock E, Wegner M, Costantini F, Chaboissier MC, Schedl A. Reginensi A, et al. Hum Mol Genet. 2011 Mar 15;20(6):1143-53. doi: 10.1093/hmg/ddq558. Epub 2011 Jan 6. Hum Mol Genet. 2011. PMID: 21212101 Free PMC article.
Here we show that SOX9, a gene involved in campomelic dysplasia (CD) in humans, together with its close homologue SOX8, plays an essential role in RET signalling. ...Our results also explain the aetiology of kidney hypoplasia found in a proportion of CD patients....
Here we show that SOX9, a gene involved in campomelic dysplasia (CD) in humans, together with its close homologue SOX8, plays an esse …
The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6.
Akiyama H, Chaboissier MC, Martin JF, Schedl A, de Crombrugghe B. Akiyama H, et al. Genes Dev. 2002 Nov 1;16(21):2813-28. doi: 10.1101/gad.1017802. Genes Dev. 2002. PMID: 12414734 Free PMC article.
Inactivation of Sox9 in limb buds before mesenchymal condensations resulted in a complete absence of both cartilage and bone, but markers for the different axes of limb development showed a normal pattern of expression. ...Moreover, expression of Runx2, a tra …
Inactivation of Sox9 in limb buds before mesenchymal condensations resulted in a complete absence of both cartilage and bone, but mar …
YAC transgenic analysis reveals Wilms' tumour 1 gene activity in the proliferating coelomic epithelium, developing diaphragm and limb.
Moore AW, Schedl A, McInnes L, Doyle M, Hecksher-Sorensen J, Hastie ND. Moore AW, et al. Mech Dev. 1998 Dec;79(1-2):169-84. doi: 10.1016/s0925-4773(98)00188-9. Mech Dev. 1998. PMID: 10349631
A 5 kb promoter weakly recapitulated a subset of the endogenous Wt1 expression pattern. In contrast, 470 and 280 kb YAC transgenes reproduced the correct pattern with high activity and highlighted new expression sites. ...Based upon these and further data we discuss
A 5 kb promoter weakly recapitulated a subset of the endogenous Wt1 expression pattern. In contrast, 470 and 280 kb YAC transg
Wilms' tumour--a case of disrupted development.
Miyagawa K, Kent J, Schedl A, van Heyningen V, Hastie ND. Miyagawa K, et al. J Cell Sci Suppl. 1994;18:1-5. doi: 10.1242/jcs.1994.supplement_18.1. J Cell Sci Suppl. 1994. PMID: 7883783 Review.
Wilms' tumour is a paediatric kidney malignancy that arises through aberrant differentiation of nephric stem cells. We are studying the role of one Wilms' tumour predisposition gene, WT1. This is a tumour suppressor gene whose function is required for normal develop …
Wilms' tumour is a paediatric kidney malignancy that arises through aberrant differentiation of nephric stem cells. We are studying t …
Sox9 induces testis development in XX transgenic mice.
Vidal VP, Chaboissier MC, de Rooij DG, Schedl A. Vidal VP, et al. Nat Genet. 2001 Jul;28(3):216-7. doi: 10.1038/90046. Nat Genet. 2001. PMID: 11431689
Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation.
Hammes A, Guo JK, Lutsch G, Leheste JR, Landrock D, Ziegler U, Gubler MC, Schedl A. Hammes A, et al. Cell. 2001 Aug 10;106(3):319-29. doi: 10.1016/s0092-8674(01)00453-6. Cell. 2001. PMID: 11509181
Heterozygous mice with a reduction of +KTS levels develop glomerulosclerosis and represent a model for Frasier syndrome. Homozygous mutants of both strains die after birth due to kidney defects. Strikingly, mice lacking +KTS isoforms show a complete XY sex re …
Heterozygous mice with a reduction of +KTS levels develop glomerulosclerosis and represent a model for Frasier syndrome. Homoz …
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