Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia

Autor: Guy Khalaf, Claudia Mattern, Mélina Begou, Odile Boespflug-Tanguy, Charbel Massaad, Liliane Massaad-Massade

Publikováno v: Biomedicines, Vol 10, Iss 7, p 1709 (2022)

Pelizaeus–Merzbacher Disease (PMD) is an inherited leukodystrophy affecting the central nervous system (CNS)—a rare disorder that especially concerns males. Its estimated prevalence is 1.45–1.9 per 100,000 individuals in the general population.

Externí odkaz: https://doaj.org/article/5e20e7ca452f460d97555da82facb8f1

Molecular Mechanisms Controlling Brain Aromatase Expression

Autor: Harada, Nobuhiro, author, Honda, Shin-ichiro, author

Publikováno v: Brain Aromatase, Estrogens, and Behavior, 2012, ill.

Externí odkaz: https://doi.org/10.1093/acprof:oso/9780199841196.003.0008

Estrogen receptor 1 gene polymorphisms in premenopausal women: interaction between genotype and smoking on lipid levels

Autor: Almeida, S., Hutz, M.H.

Publikováno v: Brazilian Journal of Medical and Biological Research, Vol 41, Iss 10, Pp 872-876 (2008)
Brazilian Journal of Medical and Biological Research, Volume: 41, Issue: 10, Pages: 872-876, Published: OCT 2008

Estrogen has multiple effects on lipid and lipoprotein metabolism. We investigated the association between the four common single nucleotide polymorphisms in the estrogen receptor 1 (ESR1) gene locus, -1989T>G, +261G>C, IVS1-397T>C and IVS1-351A>G, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::43b22694df19deff3d6aafa3d92c3a51
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008001000007

Limited clinical benefit of minority K103N and Y181C-variant detection in addition to routine genotypic resistance testing in antiretroviral therapy-naive patients

Autor: Karin J, Metzner, Alexandra U, Scherrer, Viktor, von Wyl, Jürg, Böni, Sabine, Yerly, Thomas, Klimkait, Vincent, Aubert, Hansjakob, Furrer, Hans H, Hirsch, Pietro L, Vernazza, Matthias, Cavassini, Alexandra, Calmy, Enos, Bernasconi, Rainer, Weber, Huldrych F, Günthard, S, Yerly

Publikováno v: Metzner, Karin J.; Scherrer, Alexandra U.; Von Wyl, Viktor; Böni, Jürg; Yerly, Sabine; Klimkait, Thomas; Aubert, Vincent; Furrer, Hansjakob; Hirsch, Hans H.; Vernazza, Pietro L.; Cavassini, Matthias; Calmy, Alexandra; Bernasconi, Enos; Weber, Rainer; Günthard, Huldrych F. (2014). Limited clinical benefit of minority K103N and Y181C-variant detection in addition to routine genotypic resistance testing in antiretroviral therapy-naive patients. AIDS, 28(15), pp. 2231-2239. Lippincott Williams & Wilkins 10.1097/QAD.0000000000000397
AIDS, Vol. 28, No 15 (2014) pp. 2231-9

OBJECTIVE: The presence of minority nonnucleoside reverse transcriptase inhibitor (NNRTI)-resistant HIV-1 variants prior to antiretroviral therapy (ART) has been linked to virologic failure in treatment-naive patients. DESIGN: We performed a large re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a83cdf18432fcfc4ee8249bf1775588
https://boris.unibe.ch/54921/1/00002030-900000000-98279.pdf

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