TY - CHAP
T1 - Clinical aspects of WT1 and the kidney
AU - Miller-Hodges, Eve
PY - 2016/7/15
Y1 - 2016/7/15
N2 - For more than 30 years, WT1 mutations have been associated with complex developmental syndromes involving the kidney. Acting as a transcription factor, WT1 is expressed throughout the nephron and controls the reciprocal interactions and phenotypic changes required for normal renal development. In the adult, WT1 expression remains extremely high in the renal podocyte, and at a lower level in the parietal epithelial cells. Wt1-null mice are unable to form kidneys [1]. Unsurprisingly, WT1 mutations lead to significant abnormalities of the renal and genitourinary tract, causing a number of human diseases including syndromes such as Denys-Drash syndrome, Frasier syndrome, and WAGR syndrome. Recent methodological advances have improved the identification of WT1 mutations, highlighting its importance even in nonsyndromic renal disease, particularly in steroid-resistant nephrotic syndrome. This vast spectrum of WT1-related disease typifies the varied and complex activity of WT1 in development, disease, and tissue maintenance.
AB - For more than 30 years, WT1 mutations have been associated with complex developmental syndromes involving the kidney. Acting as a transcription factor, WT1 is expressed throughout the nephron and controls the reciprocal interactions and phenotypic changes required for normal renal development. In the adult, WT1 expression remains extremely high in the renal podocyte, and at a lower level in the parietal epithelial cells. Wt1-null mice are unable to form kidneys [1]. Unsurprisingly, WT1 mutations lead to significant abnormalities of the renal and genitourinary tract, causing a number of human diseases including syndromes such as Denys-Drash syndrome, Frasier syndrome, and WAGR syndrome. Recent methodological advances have improved the identification of WT1 mutations, highlighting its importance even in nonsyndromic renal disease, particularly in steroid-resistant nephrotic syndrome. This vast spectrum of WT1-related disease typifies the varied and complex activity of WT1 in development, disease, and tissue maintenance.
KW - Genetic testing
KW - Genitourinary syndromes
KW - Glomerular sclerosis
KW - Mesangial cells
KW - Nephrotic syndrome
KW - Renal podocyte
KW - Transplantation
UR - http://www.scopus.com/inward/record.url?scp=84978708715&partnerID=8YFLogxK
U2 - 10.1007/978-1-4939-4023-3_2
DO - 10.1007/978-1-4939-4023-3_2
M3 - Chapter
AN - SCOPUS:84978708715
VL - 1467
T3 - Methods in Molecular Biology
BT - The Wilms' Tumor (WT1) Gene
PB - Springer
ER -