Gudrun A Rappold
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Explore the profile of Gudrun A Rappold including associated specialties, affiliations and a list of published articles.
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74
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1839
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Recent Articles
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Werren E, Peirent E, Jantti H, Guxholli A, Srivastava K, Orenstein N, et al.
Cell Death Dis
. 2024 May;
15(5):379.
PMID: 38816421
CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central...
4.
Weiss B, Ott T, Vick P, Lui J, Roeth R, Vogel S, et al.
Front Endocrinol (Lausanne)
. 2023 Dec;
14:1258313.
PMID: 38152138
Very tall people attract much attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear...
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Radecke K, Gore A, Burau K, Laugsch M, Kohler K, Rappold G, et al.
Stem Cell Res
. 2023 Apr;
69:103089.
PMID: 37028180
SHOX2 is a homeobox transcription factor associated with atrial fibrillation (AF) and sinus node dysfunction. Here, we generated two homozygous SHOX2 knock-out hiPSC lines from a healthy control line and...
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Fritz N, Berens S, Dong Y, Martinez C, Schmitteckert S, Houghton L, et al.
J Mol Med (Berl)
. 2022 Sep;
100(11):1617-1627.
PMID: 36121467
Irritable bowel syndrome (IBS) is a gut-brain disorder of multifactorial origin. Evidence of disturbed serotonergic function in IBS accumulated for the 5-HT receptor family. 5-HTRs are encoded by HTR3 genes...
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Lipphardt V, Rappold G, Surdu M
Sci Context
. 2022 Sep;
34(1):69-100.
PMID: 36050807
Moreau () has raised concerns about the use of DNA data obtained from vulnerable populations, such as the Uighurs in China. We discuss another case, situated in Europe and with...
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Wang J, Frohlich H, Bodaleo Torres F, Leal Silva R, Poschet G, Agarwal A, et al.
Proc Natl Acad Sci U S A
. 2022 Feb;
119(8).
PMID: 35165191
FOXP1 syndrome caused by haploinsufficiency of the forkhead box protein P1 (FOXP1) gene is a neurodevelopmental disorder that manifests motor dysfunction, intellectual disability, autism, and language impairment. In this study,...
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Wang J, Rappold G, Frohlich H
Genes (Basel)
. 2022 Jan;
13(1).
PMID: 35052467
Reduced cognitive flexibility, characterized by restricted interests and repetitive behavior, is associated with atypical memory performance in autism spectrum disorder (ASD), suggesting hippocampal dysfunction. FOXP1 syndrome is a neurodevelopmental disorder...
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Vick P, Eberle B, Choukair D, Weiss B, Roeth R, Schneider I, et al.
Genes (Basel)
. 2021 Dec;
12(12).
PMID: 34946811
Congenital primary hypothyroidism (CH; OMIM 218700) is characterized by an impaired thyroid development, or dyshormonogenesis, and can lead to intellectual disability and growth retardation if untreated. Most of the children...