User: Guest  Login
Less Searchfields
Simple search
Title:

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.

Document type:
Review; Journal Article; Review; Research Support, Non-U.S. Gov't
Author(s):
Deltas, Constantinos; Papagregoriou, Gregory; Louka, Stavroula F; Malatras, Apostolos; Flinter, Frances; Gale, Daniel P; Gear, Susie; Gross, Oliver; Hoefele, Julia; Lennon, Rachel; Miner, Jeffrey H; Renieri, Alessandra; Savige, Judy; Turner, A Neil
Abstract:
Familial hematuria is a clinical sign of a genetically heterogeneous group of conditions, accompanied by broad inter- and intrafamilial variable expressivity. The most frequent condition is caused by pathogenic (or likely pathogenic) variants in the collagen-IV genes, COL4A3/A4/A5. Pathogenic variants in COL4A5 are responsible for the severe X-linked glomerulopathy, Alport syndrome (AS), while homozygous or compound heterozygous variants in the COL4A3 or the COL4A4 gene cause autosomal recessive...     »
Journal title abbreviation:
Genes (Basel)
Year:
2023
Journal volume:
14
Journal issue:
9
Fulltext / DOI:
doi:10.3390/genes14091686
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37761826
Print-ISSN:
2073-4425
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann)
 BibTeX