Výsledky vyhledávání - "Andreas, Gal"

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype

Autor: Emilia Lopes, Rui Faria, Paulo Gaspar, Olga Azevedo, Alice Martins, Jorge Rodrigues, Sónia Simões, Gabriel Miltenberger-Miltenyi, Pedro Reimão, Nuno Sousa, Olga Pereira, Damião Cunha, Fátima Dias, Miguel Gago, Andreas Gal, Maria José Guimarães

Publikováno v: Molecular Genetics and Metabolism. 129:150-160

Background Knowledge on clinical profiles of late-onset phenotypes of Fabry disease (FD) is essential to better define their natural history. Our study aims to demonstrate a founder effect of FD due to the GLA gene mutation c.337T>C (p.F113L) in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df03cb27173cb895c2f6d02ec72b6977
https://doi.org/10.1016/j.ymgme.2019.07.012

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Akademický článek

Ocular signs correlate well with disease severity and genotype in Fabry disease.

Autor: Susanne Pitz, Gisela Kalkum, Laila Arash, Nesrin Karabul, Andrea Sodi, Sylvain Larroque, Michael Beck, Andreas Gal

Publikováno v: PLoS ONE, Vol 10, Iss 3, p e0120814 (2015)

Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-galactosidase A gene mutation, have predictive value for disease se

Externí odkaz: https://doaj.org/article/b751b81bf2334206acfb3a07a371739c

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Akademický článek

Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa.

Autor: Bastian Linder, Anja Hirmer, Andreas Gal, Klaus Rüther, Hanno Jörn Bolz, Christoph Winkler, Bernhard Laggerbauer, Utz Fischer

Publikováno v: PLoS ONE, Vol 9, Iss 11, p e111754 (2014)

Pre-mRNA splicing by the spliceosome is an essential step in the maturation of nearly all human mRNAs. Mutations in six spliceosomal proteins, PRPF3, PRPF4, PRPF6, PRPF8, PRPF31 and SNRNP200, cause retinitis pigmentosa (RP), a disease characterized b

Externí odkaz: https://doaj.org/article/6140c1431828454bb6ad7def5e7a7b1c

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Mutational analysis of the GLA gene in Mexican families with Fabry disease

Autor: Rocío Ortíz-Orozco, Ernesto Prado Montes de Oca, Luis E. Figuera, Ulrich Orth, Jaime Paul Gutiérrez-Amavizca, Bianca Ethel Gutiérrez-Amavizca, Andreas Gal

Publikováno v: Journal of Genetics. 96:161-164

Fabry disease (FD) is a lysosomal storage disorder, which develops due to a deficiency in the hydrolytic enzyme, α-galactosidase A (α-Gal A). Alpha-Gal A hydrolyzes glycosphingolipid globotriaosylceramide (Gb3), and an α-Gal A deficiency leads to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7bf2371a06dd12d88a497e84824e8bc
https://doi.org/10.1007/s12041-017-0744-4

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EGFRvIII does not affect radiosensitivity with or without gefitinib treatment in glioblastoma cells

Autor: Ekkehard Dikomey, Tobias Grob, Nina Struve, Alexander Schulte, Matthias Riedel, Katrin Lamszus, Thorsten Rieckmann, Malte Kriegs, Kai Rothkamm, Cordula Petersen, Andreas Gal

Publikováno v: Oncotarget

// Nina Struve 1 , Matthias Riedel 1 , Alexander Schulte 2 , Thorsten Rieckmann 1, 3 , Tobias J. Grob 4 , Andreas Gal 5 , Kai Rothkamm 1 , Katrin Lamszus 2 , Cordula Petersen 1 , Ekkehard Dikomey 1 , Malte Kriegs 1 1 Department of Radiotherapy and Ra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b41963135a48ce42397ea003fcd561fe
https://doi.org/10.18632/oncotarget.5293

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A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita

Autor: Elke Kaminsky, Judith Gerards, Andreas Gal, Michael M. Ritter, Wolfgang Hoeppner, Marcus Quinkler

Publikováno v: Endocrinology, Diabetes & Metabolism Case Reports

Summary DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by ad

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7aa8ac3cc41c132140a89ac63ebd3b6
https://doi.org/10.1530/edm-17-0054

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A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region

Autor: Kerstin Kutsche, Marketa Sutajova, Isabel Martinez-Garay, Peter Steuernagel, Andreas Gal, Sibylle Jablonka

Illegitimate recombinations between low-copy repetitive elements (LCR) have been implicated in the pathogenesis of various chromosomal rearrangements. Two such duplicons have been reported previously on Xp22.3, the CRI-S232 elements, involved in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c3a9dfec9b74b5225c2a9cf795856a3
https://ora.ox.ac.uk/objects/uuid:68e73d07-eba1-44da-96b1-9f103b908ef3

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Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

Publikováno v: The American Journal of Human Genetics. 88:621-627

The fact that hereditary hearing loss is the most common sensory disorder in humans is reflected by, among other things, an extraordinary allelic and nonallelic genetic heterogeneity. X-chromosomal hearing impairment represents only a minor fraction

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9a2e3794e24778dd3380e5ef883e7f8
https://doi.org/10.1016/j.ajhg.2011.04.007

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