Susanne Stemmler
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Explore the profile of Susanne Stemmler including associated specialties, affiliations and a list of published articles.
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24
Citations
478
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Recent Articles
1.
Sachau J, Bruckmueller H, Gierthmuhlen J, Magerl W, May D, Binder A, et al.
Eur J Pain
. 2020 Nov;
25(3):595-611.
PMID: 33171011
Background: The serotonin receptor 2A (HTR2A) has been described as an important facilitation mediator of spinal nociceptive processing leading to central sensitization (CS) in animal models of chronic pain. However,...
2.
Ibisler A, Ocklenburg S, Stemmler S, Arning L, Epplen J, Saft C, et al.
J Genet Couns
. 2017 Apr;
26(5):1029-1040.
PMID: 28361381
We present a prospective study of counselees seeking predictive testing for Huntington's disease at the Huntington Center North Rhine-Westphalia (Bochum, Germany) between 2010 and 2012. The aim was to observe...
3.
Stemmler S, Hoffjan S
Mol Cell Probes
. 2016 Oct;
30(6):374-385.
PMID: 27725295
Atopic dermatitis (AD) is a common and complex skin disease associated with both genetic and environmental factors. Loss-of-function mutations in the filaggrin gene, encoding a structural protein with an important...
4.
Arning L, Witt C, Epplen J, Stemmler S
J Huntingtons Dis
. 2015 Sep;
4(1):87-98.
PMID: 26333260
Background: The discovery of the mutation causing Huntington's disease (HD) in 1993 allowed direct mutation analysis and predictive testing to identify currently unaffected carriers with a sensitivity and specificity of...
5.
Kohler C, Heyer C, Hoffjan S, Stemmler S, Lucke T, Thiels C, et al.
Mol Cell Probes
. 2015 Sep;
29(5):319-22.
PMID: 26327357
Mutations in the DARS2 gene are known to cause leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), a rare autosomal recessive neurological disorder. It was originally described...
6.
Hoffjan S, Stemmler S
Arch Dermatol Res
. 2015 Feb;
307(8):659-70.
PMID: 25693656
Atopic dermatitis (AD) is a chronic inflammatory skin disease arising from complex interaction between genetic and environmental factors. As the starting point of the so-called "atopic march", e.g. the progression...
7.
Stemmler S, Parwez Q, Petrasch-Parwez E, Epplen J, Hoffjan S
BMC Dermatol
. 2014 Nov;
14:17.
PMID: 25363238
Background: Atopic dermatitis (AD) is a chronic inflammatory skin disorder caused by complex interaction of genetic and environmental factors. Besides mutations in the filaggrin gene, leading to impaired skin barrier...
8.
Boone P, Yuan B, Campbell I, Scull J, Withers M, Baggett B, et al.
Am J Hum Genet
. 2014 Jul;
95(2):143-61.
PMID: 25065914
Intragenic copy-number variants (CNVs) contribute to the allelic spectrum of both Mendelian and complex disorders. Although pathogenic deletions and duplications in SPAST (mutations in which cause autosomal-dominant spastic paraplegia 4...
9.
Rahner N, Brockschmidt F, Steinke V, Kahl P, Becker T, Vasen H, et al.
Fam Cancer
. 2011 Nov;
11(1):19-26.
PMID: 22086303
Lynch syndrome (Hereditary non-polyposis colorectal cancer/HNPCC) is a cancer susceptibility syndrome which is caused by germline mutations in DNA mismatch repair (MMR) genes, in particular MLH1 and MSH2. A pathogenic...
10.
Carrai M, Steinke V, Vodicka P, Pardini B, Rahner N, Holinski-Feder E, et al.
PLoS One
. 2011 Jun;
6(6):e20464.
PMID: 21674048
Molecular sensing in the lingual mucosa and in the gastro-intestinal tract play a role in the detection of ingested harmful drugs and toxins. Therefore, genetic polymorphisms affecting the capability of...