Matthias Rath
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Explore the profile of Matthias Rath including associated specialties, affiliations and a list of published articles.
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121
Citations
1181
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Recent Articles
1.
Pilz R, Skowronek D, Bonde L, Kaluzewski T, Schamuhn O, Busch R, et al.
Eur J Med Genet
. 2025 Feb;
74:105003.
PMID: 39993709
Introduction: Familial hypercholesterolemia (FH) affects around 1 in 250 people. Most FH cases are caused by pathogenic LDLR variants, with copy number variations (CNVs) accounting for about 10 %. However,...
2.
Pilz R, Skowronek D, Ehresmann T, Felbor U, Rath M
Clin Case Rep
. 2024 Nov;
12(11):e9543.
PMID: 39498435
Key Clinical Message: Not only germline but also postzygotic mutations in the or genes can lead to capillary malformation-arteriovenous malformation (CM-AVM) syndrome. As it is not always possible to clinically...
3.
Goc A, Sumera W, Rath M, Niedzwiecki A
Microorganisms
. 2024 Aug;
12(8).
PMID: 39203455
is a major pathogenic habitant of oral caries. Owing to its physiological and biochemical features, it prevails in the form of plaque biofilm together with another important mutans streptococci species,...
4.
5.
Skowronek D, Pilz R, Schwefel K, Much C, Felbor U, Rath M
Med Genet
. 2024 Jun;
33(3):251-259.
PMID: 38835694
Cerebral cavernous malformations (CCMs) are vascular lesions that can cause severe neurological complications due to intracranial hemorrhage. Although the CCM disease genes, , , and , have been known for...
6.
Houge G, Bratland E, Aukrust I, Tveten K, Zukauskaite G, Sansovic I, et al.
Eur J Hum Genet
. 2024 May;
32(7):858-863.
PMID: 38778080
The ABC and ACMG variant classification systems were compared by asking mainly European clinical laboratories to classify variants in 10 challenging cases using both systems, and to state if the...
7.
Zaninetti C, Rivera J, Vater L, Ohlenforst S, Leinoe E, Bockelmann D, et al.
J Thromb Haemost
. 2023 Dec;
22(4):1179-1186.
PMID: 38103735
Background: The transcription factor GATA1 is an essential regulator of erythroid cell gene expression and maturation and is also relevant for platelet biogenesis. GATA1-related thrombocytopenia (GATA1-RT) is a rare X-linked...
8.
Goc A, Sumera W, Rath M, Niedzwiecki A
Eur J Microbiol Immunol (Bp)
. 2023 Oct;
13(3):83-87.
PMID: 37856196
Infections caused by Staphylococcus aureus are currently a worldwide threat affecting millions of individuals. The pathogenicity of S. aureus is associated with numerous virulence factors, including cell surface proteins, polysaccharides,...
9.
Goc A, Sumera W, Rath M, Niedzwiecki A
PLoS One
. 2023 Aug;
18(8):e0290904.
PMID: 37651426
The ongoing rise in antibiotic resistance, and a waning of the introduction of new antibiotics, has resulted in limited treatment options for bacterial infections, including these caused by methicillin-resistant Staphylococcus...
10.
Goc A, Sumera W, Rath M, Niedzwiecki A
Eur J Microbiol Immunol (Bp)
. 2023 May;
13(1):6-14.
PMID: 37256738
SARS-CoV-2 infection still poses health threats especially to older and immunocompromised individuals. New emerging variants of SARS-CoV-2, including Omicron and Arcturus, have been challenging the effectiveness of humoral immunity resulting...