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1.
Semin Cell Dev Biol ; 36: 39-49, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25153928

ABSTRACT

The glomerulus represents a highly structured filtration unit, composed of glomerular endothelial cells, mesangial cells, podocytes and parietal epithelial cells. During glomerulogenesis an intricate network of signaling pathways involving transcription factors, secreted factors and cell-cell communication is required to guarantee accurate evolvement of a functional, complex 3-dimensional glomerular architecture. Here, we want to provide an overview on the critical steps and relevant signaling cascades of glomerular development.


Subject(s)
Kidney Glomerulus/embryology , Organogenesis/physiology , Basic Helix-Loop-Helix Transcription Factors/metabolism , Cell Communication/physiology , Cell Differentiation , Endothelial Cells/cytology , Humans , Kidney Glomerulus/cytology , LIM-Homeodomain Proteins/metabolism , MafB Transcription Factor/metabolism , Mesangial Cells/cytology , Podocytes/cytology , Receptors, Notch/metabolism , Transcription Factors/metabolism , WT1 Proteins/metabolism
2.
Kidney Int ; 72(12): 1520-6, 2007 Dec.
Article in English | MEDLINE | ID: mdl-17960139

ABSTRACT

Joubert syndrome (JS) is an autosomal recessive disorder, consisting of mental retardation, cerebellar vermis aplasia, an irregular breathing pattern, and retinal degeneration. Nephronophthisis (NPHP) is found in 17-27% of these patients, which was designated JS type B. Mutations in four separate genes (AHI1, NPHP1, CEP290/NPHP6, and MKS3) are linked to JS. However, missense mutations in a new ciliary gene (RPGRIP1L) were found in type B patients. We analyzed a cohort of 56 patients with JS type B who were negative for mutations in three (AHI1, NPHP1, and CEP290/NPHP6) of the four genes previously linked to the syndrome. The 26 exons encoding RPGRIP1L were analyzed by means of PCR amplification, CEL I endonuclease digestion, and subsequent sequencing. Using this approach, four different mutations in the RPGRIP1L gene in five different families were identified and three were found to be novel mutations. Additionally, we verified that missense mutations are responsible for JS type B and cluster in exon 15 of the RPGRIP1L gene. Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations.


Subject(s)
Cerebellar Diseases/genetics , Eye Diseases/genetics , Kidney Diseases, Cystic/genetics , Proteins/genetics , Adult , Child , Cytoskeletal Proteins , DNA Mutational Analysis , Family Health , Female , Genetic Linkage , Humans , Male , Pedigree , Point Mutation , Syndrome
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