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Titel:

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.

Dokumenttyp:
Journal Article
Autor(en):
Günthner, Roman; Knipping, Lea; Jeruschke, Stefanie; Satanoskij, Robin; Lorenz-Depiereux, Bettina; Hemmer, Clara; Braunisch, Matthias C; Riedhammer, Korbinian M; Ćomić, Jasmina; Tönshoff, Burkhard; Tasic, Velibor; Abazi-Emini, Nora; Nushi-Stavileci, Valbona; Buiting, Karin; Gjorgjievski, Nikola; Momirovska, Ana; Patzer, Ludwig; Kirschstein, Martin; Gross, Oliver; Lungu, Adrian; Weber, Stefanie; Renders, Lutz; Heemann, Uwe; Meitinger, Thomas; Büscher, Anja K; Hoefele, Julia
Abstract:
X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in COL4A5 primarily affects males. Females with a heterozygous state show a diverse phenotypic spectrum ranging from microscopic hematuria to end-stage kidney disease (ESKD) and extrarenal manifestations. In other X-linked diseases, skewed X-inactivation leads to preferential silencing of one X-chromosome and thus can determine the phenotype in females. We aimed to show a correlation between X-inactivation in blood and u...     »
Zeitschriftentitel:
Front Med (Lausanne)
Jahr:
2022
Band / Volume:
9
Volltext / DOI:
doi:10.3389/fmed.2022.953643
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/36341250
TUM Einrichtung:
Institut für Humangenetik; Professur für Nephrologie (Prof. Heemann)
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