Juvenile nephronophthisis is inherited via an autosomal recessive manner
Juvenile nephronophthisis is the juvenile form of nephronophthisis that causes end stage kidney disease around the age of 13; infantile nephronophthisis and adolescent nephronophthisis cause ESKD around the ages of 1 and 19, respectively.
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nephronophthisis and adolescent nephronophthisis cause ESKD around the ages of 1 and 19, respectively. Typically, the signs and symptoms of juvenile nephronophthisis...
condition warrants. Nephronophthisis occurs equally in both sexes and has an estimate 9 in about 8 million rate in individuals. Nephronophthisis is the leading...
domain 3 (SH3) patterns. Mutations in this gene cause familial juvenilenephronophthisis. NPHP1 has been shown to interact with BCAR1, PTK2B, Filamin and...
kidney (MSK). Other types of genetic cystic kidney disease include juvenilenephronophthisis (JNPHP), medullary cystic kidney disease (MCKD), and glomerulocystic...
Salomon R, Gribouval O, et al. (2002). "The gene mutated in juvenilenephronophthisis type 4 encodes a novel protein that interacts with nephrocystin"...
Salomon R, Gribouval O, et al. (2002). "The gene mutated in juvenilenephronophthisis type 4 encodes a novel protein that interacts with nephrocystin"...
identified the genetic cause of UKD as mutations in the MUC1 gene. Nephronophthisis "Medullary Cystic Disease Treatment & Management: Medical Care, Surgical...
been identified to have causal effect in polycystic kidney disease, nephronophthisis, Senior–Løken syndrome type 5, orofaciodigital syndrome type 1 and...
with its ciliary localization and cause a severe juvenile cystic kidney disease known as nephronophthisis, underscoring the important link between cilia...
2005). "Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations". Proceedings of...
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