2025

Thoracic aortic diseases: Identification of diagnostic biomarkers using proteomic analysis
Arndt N, Mair T, Riedner M, Biabani A, Voß H, Schlüter H, Förster L, Knochenhauer T, Sachse M, Beyer M, Leonhardt M, von Kodolitsch Y, Schlein C, Sauter G, Nauth T, Naito S, Girdauskas E, Reichenspurner H, Detter C, Rosenberger G, Demal T
CARDIOVASC PATHOL. 2025 [Epub ahead of print];107785.

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection
Nauth T, Philipp M, Renner S, Burkhalter M, Schüler H, Saygi C, Händler K, Siebels B, Busch A, Mair T, Rickassel V, Deden S, Hoffer K, Olfe J, Mir T, von Kodolitsch Y, Girdauskas E, Rybczynski M, Kriegs M, Voß H, Sauvigny T, Spielmann M, Alawi M, Krasemann S, Kubisch C, Demal T, Rosenberger G
J CLIN INVEST. 2025 [Epub ahead of print].

2023

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs
Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss A, Sieckmann T, Lai E, Connaughton D, Seltzsam S, Mann N, Majmundar A, Wu C, Onuchic-Whitford A, Shril S, Schneider S, Schierbaum L, Dai R, Bekheirnia M, Joosten M, Shlomovitz O, Vivante A, Banne E, Mane S, Lifton R, Kirschner K, Kispert A, Rosenberger G, Fischer K, Lienkamp S, Zegers M, Hildebrandt F
J AM SOC NEPHROL. 2023;34(2):273-290.

Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes
Nauth T, Bazgir F, Voß H, Brandenstein L, Mosaddeghzadeh N, Rickassel V, Deden S, Gorzelanny C, Schlüter H, Ahmadian M, Rosenberger G
HUM MOL GENET. 2023;32(2):304-318.

2022

A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome
Lindsey-Temple S, Edwards M, Rickassel V, Nauth T, Rosenberger G
EUR J HUM GENET. 2022;30(9):1088-1093.

2020

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
Gripp K, Baker L, Robbins K, Stabley D, Bellus G, Kolbe V, Nauth T, Rosenberger G
EUR J HUM GENET. 2020;28(11):1548-1554.

2019

Tandem Affinity Purification of SBP-CBP-tagged Type Three Secretion System Effectors
Berneking L, Schnapp M, Nauth T, Hentschke M
BIO-PROTOCOL. 2019;9(12):.

Letzte Aktualisierung aus dem FIS: 13.10.2025 - 00:35 Uhr