Patricia da Silva-Buttkus
Overview
Explore the profile of Patricia da Silva-Buttkus including associated specialties, affiliations and a list of published articles.
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20
Citations
395
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Recent Articles
1.
Hasenbein T, Hoelzl S, Smith Z, Gerhardinger C, Gonner M, Aguilar-Pimentel A, et al.
Nat Commun
. 2024 Dec;
15(1):10631.
PMID: 39638999
The lncRNA Crossfirre was identified as an imprinted X-linked gene, and is transcribed antisense to the trans-acting lncRNA Firre. The Firre locus forms an inactive-X-specific interaction with Dxz4, both loci...
2.
Karampelias C, Baloiu B, Rathkolb B, da Silva-Buttkus P, Bachar-Wikstrom E, Marschall S, et al.
Life Sci Alliance
. 2024 Aug;
7(11).
PMID: 39159974
Regeneration of insulin-producing β-cells is an alternative avenue to manage diabetes, and it is crucial to unravel this process in vivo during physiological responses to the lack of β-cells. Here,...
3.
Sabikunnahar B, Caldwell S, Varnum S, Hogan T, Lahue K, Rathkolb B, et al.
Physiol Rep
. 2024 Jan;
12(1):e15901.
PMID: 38171546
Obesity is a global health problem characterized by excessive fat accumulation, driven by adipogenesis and lipid accumulation. Long non-coding RNAs (lncRNAs) have recently been implicated in regulating adipogenesis and adipose...
4.
Huang X, Henck J, Qiu C, Sreenivasan V, Balachandran S, Amarie O, et al.
Nature
. 2023 Nov;
623(7988):772-781.
PMID: 37968388
Mouse models are a critical tool for studying human diseases, particularly developmental disorders. However, conventional approaches for phenotyping may fail to detect subtle defects throughout the developing mouse. Here we...
5.
Jacobs H, Szibor M, Rathkolb B, da Silva-Buttkus P, Aguilar-Pimentel J, Amarie O, et al.
Biochim Biophys Acta Mol Basis Dis
. 2023 May;
1869(7):166760.
PMID: 37230398
The alternative oxidase, AOX, provides a by-pass of the cytochrome segment of the mitochondrial respiratory chain when the chain is unavailable. AOX is absent from mammals, but AOX from Ciona...
6.
Bukas C, Galter I, da Silva-Buttkus P, Fuchs H, Maier H, Gailus-Durner V, et al.
Mamm Genome
. 2023 May;
34(2):200-215.
PMID: 37221250
Echocardiography, a rapid and cost-effective imaging technique, assesses cardiac function and structure. Despite its popularity in cardiovascular medicine and clinical research, image-derived phenotypic measurements are manually performed, requiring expert knowledge...
7.
da Silva-Buttkus P, Spielmann N, Klein-Rodewald T, Schutt C, Aguilar-Pimentel A, Amarie O, et al.
Mamm Genome
. 2023 May;
34(2):244-261.
PMID: 37160609
Rare diseases (RDs) are a challenge for medicine due to their heterogeneous clinical manifestations and low prevalence. There is a lack of specific treatments and only a few hundred of...
8.
Spielmann N, Schenkl C, Komlodi T, da Silva-Buttkus P, Heyne E, Rohde J, et al.
Mamm Genome
. 2022 Dec;
34(2):229-243.
PMID: 36565314
Ubiquinol cytochrome c reductase hinge protein (UQCRH) is required for the electron transfer between cytochrome c and c of the mitochondrial cytochrome bc Complex (CIII). A two-exon deletion in the...
9.
Xie K, Fuchs H, Scifo E, Liu D, Aziz A, Aguilar-Pimentel J, et al.
Nat Commun
. 2022 Nov;
13(1):6830.
PMID: 36369285
Current concepts regarding the biology of aging are primarily based on studies aimed at identifying factors regulating lifespan. However, lifespan as a sole proxy measure for aging can be of...
10.
Garrett L, da Silva-Buttkus P, Rathkolb B, Gerlini R, Becker L, Sanz-Moreno A, et al.
Dis Model Mech
. 2021 Dec;
15(3).
PMID: 34964047
Understanding the shared genetic aetiology of psychiatric and medical comorbidity in neurodevelopmental disorders (NDDs) could improve patient diagnosis, stratification and treatment options. Rare tetratricopeptide repeat, ankyrin repeat and coiled-coil containing...