Nephronophthisis: A Genetically Diverse Ciliopathy
نویسندگان
چکیده
منابع مشابه
Nephronophthisis: A Genetically Diverse Ciliopathy
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating defect. Renal ultrasound typically shows normal kidney size with increased echogenicity and corti...
متن کاملNephronophthisis: disease mechanisms of a ciliopathy.
Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults. Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as "ciliopathies." The theory is based on the...
متن کاملMutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
BACKGROUND Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS), Joubert syndrome (JBTS), and Meckel-Gruber syndrome (MKS). To date, causative mutations in NPHP-AC have been described for 18 different genes, rendering mutation analysis tedious and expensive. To overcom...
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In their recent review on diversity of African tsetse flytransmitted trypanosomes, Tait et al. [1] suggest that genetic diversity of Trypanosoma vivax, a major pathogen of African and South American cattle, is limited. This is primarily based on DNA microsatellite analysis of 31 T. vivax isolates from a single area in The Gambia [2]. However, this assessment ignores evidence from several studie...
متن کاملTargeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing to genetic heterogeneity in NPHP-RC. We designed a novel approach involving the step-wise screening of Sanger sequencing and targeted exome sequencing for the genet...
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ژورنال
عنوان ژورنال: International Journal of Nephrology
سال: 2011
ISSN: 2090-214X,2090-2158
DOI: 10.4061/2011/527137