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  1. Studying a rare disease: two novel cases of NPHS3 caused by mutations in PLCE1

  2. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome...

  3. Genetic variants of MICB and PLCE1 and associations with non-severe dengue.

    BACKGROUND: A recent genome-wide association study (GWAS) identified susceptibility loci for dengue shock syndrome (DSS) at MICB rs3132468 and PLCE1 rs3740360. The aim of this study was to define the extent to which MICB (rs3132468) and PLCE1

  4. Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial...

    Diffuse mesangial sclerosis occurs as an isolated abnormality or as a part of a syndrome. Recently, mutations in phospholipase C epsilon 1 (PLCE1) were found to cause a nonsyndromic, autosomal recessive form of this disease. Here we describe three

  5. Activity of PLCε contributes to chemotaxis of fibroblasts towards PDGF.

    Cell chemotaxis, such as migration of fibroblasts towards growth factors during development and wound healing, requires precise spatial coordination of signalling events. Phosphoinositides and signalling enzymes involved in their generation and

  6. Gene variants at loci related to blood pressure account for variation in response to...

    © 2019 Lippincott Williams and Wilkins. All rights reserved. Selection of antihypertensive treatment according to self-defined ethnicity is recommended by some guidelines but might be better guided by individual genotype rather than ethnicity or

  7. Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome

    Background and objectives Up to 95% of children presenting with steroid-resistant nephrotic syndrome in early life will have a pathogenic single-gene mutation in 1 of 24 genes currently associated with this disease. Others may be affected by

  8. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

    Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First insights into disease mechanisms came from identification of single-gene causes of SRNS.

  9. Clinico-pathological correlations of congenital and infantile nephrotic syndrome over...

    BACKGROUND: Nephrotic syndrome (NS) presenting early in life is caused by heterogeneous glomerular diseases. We retrospectively evaluated whether histological diagnosis in children presenting with NS in the first year of life predicts remission or

  10. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

    Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30%

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