Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

@inproceedings{Malone2014RareHC,
  title={Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis},
  author={Andrew F. Malone and Paul J Phelan and Gentzon Hall and {\"U}mran Cetincelik and Alison Homstad and Andrea Alonso and Ruiji Jiang and Thomas Lindsey and Guanghong Wu and Matthew A Sparks and Stephen R Smith and Nicholas J A Webb and Philip A Kalra and Adebowale A Adeyemo and Andrey S Shaw and Peter J Conlon and John Charles Jennette and David N. Howell and Michelle P. Winn and Rasheed A Gbadegesin},
  booktitle={Kidney international},
  year={2014}
}
  • Andrew F. Malone, Paul J Phelan, +17 authors Rasheed A Gbadegesin
  • Published in Kidney international 2014
  • Medicine
  • Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause Alport syndrome (AS), thin basement membrane nephropathy, and to result in pathognomonic glomerular basement membrane (GBM) findings. Secondary FSGS is known to develop in classic AS at later stages of the disease. Here, we present seven… CONTINUE READING

    Create an AI-powered research feed to stay up to date with new papers like this posted to ArXiv

    Citations

    Publications citing this paper.
    SHOWING 1-10 OF 60 CITATIONS, ESTIMATED 81% COVERAGE

    Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis

    VIEW 18 EXCERPTS
    CITES BACKGROUND
    HIGHLY INFLUENCED

    Monogenic Causes of Proteinuria in Children

    VIEW 4 EXCERPTS
    CITES BACKGROUND
    HIGHLY INFLUENCED

    Genetic mutational testing of Chinese children with familial hematuria with biopsy-proven FSGS

    VIEW 6 EXCERPTS
    CITES BACKGROUND
    HIGHLY INFLUENCED

    The importance of clinician, patient and researcher collaborations in Alport syndrome

    VIEW 4 EXCERPTS
    CITES BACKGROUND
    HIGHLY INFLUENCED

    Steroid-resistentes nephrotisches Syndrom

    VIEW 5 EXCERPTS
    CITES BACKGROUND
    HIGHLY INFLUENCED

    A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis

    VIEW 5 EXCERPTS
    CITES RESULTS & BACKGROUND
    HIGHLY INFLUENCED

    FILTER CITATIONS BY YEAR

    2014
    2020

    CITATION STATISTICS

    • 10 Highly Influenced Citations

    • Averaged 12 Citations per year from 2017 through 2019

    References

    Publications referenced by this paper.
    SHOWING 1-10 OF 27 REFERENCES

    A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen alpha3alpha4alpha5(IV) trimers

    • R Korstanje, CR Caputo, RA Doty
    • Kidney Int
    • 2014

    Treatment of primary FSGS in adults.

    VIEW 2 EXCERPTS

    A new locus for familial FSGS on chromosome 2p.

    Adhere to the KRGDS Motif of the 3 4 5 Collagen IV Network