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LP2015-11/2015
Funder:
Magyar Tudományos Akadémia
Funded outputs count:
10
Funder award ID:
LP2015-11/2015
OpenAlex ID:
G1694653143
Podocin oligomers regulate the ordering of nephrin chains, providing the molecular basis of NPHS2 interallelic interactions
2026
·
Violetta Antal-Kónya
, Gusztáv Schay
, et al.
·
Proceedings of the National Academy of Sciences
·
3
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals
2022
·
Flora Szeri
, Agnes Miko
, et al.
·
Human Mutation
·
13
PDF
The pathogenic p.R391G ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum
2020
·
Flora Szeri
, Agnes Miko
, et al.
·
medRxiv
·
3
PDF
EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome
2019
·
Eszter Vojcek
, Tália Magdolna Keszthelyi
, et al.
·
Annals of Human Genetics
·
9
PDF
The Zebrafish as an Emerging Model to Study DNA Damage in Aging, Cancer and Other Diseases
2019
·
Maria Luisa Cayuela
, Kathleen B. M. Claes
, et al.
·
Frontiers in Cell and Developmental Biology
·
46
PDF
The mutation-dependent pathogenicity ofNPHS2p.R229Q: A guide for clinical assessment
2018
·
Ágnes Mikó
, Dóra K. Menyhárd
, et al.
·
Human Mutation
·
37
PDF
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies
2018
·
Tamás Szabó
, Petronella Orosz
, et al.
·
Pediatric Nephrology
·
34
PDF
Zebrafish Models of Rare Hereditary Pediatric Diseases
2018
·
Máté Varga
, Dorottya Ralbovszki
, et al.
·
Diseases
·
23
PDF
C-terminal oligomerization of podocin mediates interallelic interactions
2018
·
Pál Stráner
, Eszter Balogh
, et al.
·
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
·
21
PDF
Selective measurement of α smooth muscle actin: why β-actin can not be used as a housekeeping gene when tissue fibrosis occurs
2017
·
Apor Veres-Székely
, Domonkos Pap
, et al.
·
BMC Molecular Biology
·
38
PDF
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