ArticleKidney international2018
Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).
Article in Kidney international, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 25 citations in OpenAlex.
- Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Ureter development and associated congenital anomalies.Nature reviews. Nephrology · 2025Review
- Identification of BCL11A, NTN5, and OGN as Diagnosis Biomarker of Papillary Renal Cell Carcinomas by Bioinformatic Analysis.Journal of kidney cancer and VHL · 2025Article
- Role of the CDKL1-SOX11 signaling axis in acute kidney injury.American journal of physiology. Renal physiology · 2024Article
- SOX11 as a prognostic biomarker linked to m6A modification and immune infiltration in renal clear cell carcinoma.Translational cancer research · 2024Article
- SOX9 switch links regeneration to fibrosis at the single-cell level in mammalian kidneys.Science (New York, N.Y.) · 2024Article
- Possible role of Sox11 in a rat model of surgical brain injury.Iranian journal of basic medical sciences · 2024Article
- The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023Review
- Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss.American journal of medical genetics. Part A · 2023Article
- SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Duplex kidney formation: developmental mechanisms and genetic predisposition.F1000Research · 2020Review
- Article
- Tfap2a is a novel gatekeeper of nephron differentiation during kidney development.Development (Cambridge, England) · 2019Article
- Single-cell transcriptomics reveals gene expression dynamics of human fetal kidney development.PLoS biology · 2019Article
- DNA copy number variations in children with vesicoureteral reflux and urinary tract infections.PloS one · 2019Article
- Impact ofHaematologica · 2018Article
- Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders.Frontiers in molecular neuroscience · 2018Review
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18 authors at 8 institutions in 5 countries.
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Abstract
Congenital abnormalities of the kidney and the urinary tract (CAKUT) belong to the most common birth defects in human, but the molecular basis for the majority of CAKUT patients remains unknown. Here we show that the transcription factor SOX11 is a crucial regulator of kidney development. SOX11 is expressed in both mesenchymal and epithelial components of the early kidney anlagen. Deletion of Sox11 in mice causes an extension of the domain expressing Gdnf within rostral regions of the nephrogenic cord and results in duplex kidney formation. On the molecular level SOX11 directly binds and regulates a locus control region of the protocadherin B cluster. At later stages of kidney development, SOX11 becomes restricted to the intermediate segment of the developing nephron where it is required for the elongation of Henle's loop. 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 normal kidney development and may suggest that variants in this gene predispose to CAKUT in humans.
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