• Publications
  • Influence
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
BACKGROUND Charcot-Marie-Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying theExpand
  • 191
  • 19
  • PDF
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients, whereas mutations in NPHS2, which encodes podocin, are typically responsibleExpand
  • 103
  • 10
  • PDF
Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.
The recent identification of mutations in the INF2 gene, which encodes a member of the formin family of actin-regulating proteins, in cases of familial FSGS supports the importance of an intact actinExpand
  • 122
  • 8
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
Classically, infants with mutations in NPHS1, which encodes nephrin, present with nephrotic syndrome within the first 3 mo of life (congenital nephrotic syndrome of the Finnish-type), and childrenExpand
  • 109
  • 7
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.
Mutations of NPHS2, encoding podocin, are the main cause of autosomal recessive steroid-resistant nephrotic syndrome (NS) presenting in childhood. Adult-onset steroid-resistant NS has been describedExpand
  • 120
  • 7
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
Monogenic disorders result from defects in a single gene. According to Mendel's laws, these disorders are inherited in either a recessive or dominant fashion. Autosomal-recessive disorders require aExpand
  • 99
  • 6
  • PDF
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome
Background Mutations in the PLCE1 gene encoding phospholipase C epsilon 1 (PLCɛ1) have been recently described in patients with early onset nephrotic syndrome (NS) and diffuse mesangial sclerosisExpand
  • 63
  • 5
NPHS2 Mutations in Steroid‐Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum
Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal‐recessive form of nonsyndromic steroid‐resistant nephrotic syndrome in both pediatric and adult patients. Patients withExpand
  • 52
  • 3
A novel Wilms’ tumor 1 gene mutation in a child with severe renal dysfunction and persistent renal blastema
The Wilms’ tumor suppressor gene WT1 is an important regulator of development. Mutations in this gene have been associated with Wilms’ tumor, Frasier syndrome, and Denys–Drash syndrome, as well asExpand
  • 6
  • 2
No Evidence of Association Between Prothrombotic Gene Polymorphisms and the Development of Acute Myocardial Infarction at a Young Age
Background—We investigated the association between 9 polymorphisms of genes encoding hemostasis factors and myocardial infarction in a large sample of young patients chosen because they have lessExpand
  • 193
  • 1