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Akademický článek

Germline VRC01 antibody recognition of a modified clade C HIV-1 envelope trimer and a glycosylated HIV-1 gp120 core

Autor: Andrew J Borst, Connor E Weidle, Matthew D Gray, Brandon Frenz, Joost Snijder, M Gordon Joyce, Ivelin S Georgiev, Guillaume BE Stewart-Jones, Peter D Kwong, Andrew T McGuire, Frank DiMaio, Leonidas Stamatatos, Marie Pancera, David Veesler

Publikováno v: eLife, Vol 7 (2018)

VRC01 broadly neutralizing antibodies (bnAbs) target the CD4-binding site (CD4BS) of the human immunodeficiency virus-1 (HIV-1) envelope glycoprotein (Env). Unlike mature antibodies, corresponding VRC01 germline precursors poorly bind to Env. Immunog

Externí odkaz: https://doaj.org/article/a11468bd4dce41cdae2356acea7e4869

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TGC-Repeats im Intron 2 des TCF4-Gens haben eine große Vorhersagekraft bezüglich Fuchs-Hornhautendotheldystrophie

Autor: E. Passarge, A. Rupprecht, Sabine Foja, Katrin Hoffmann, E. Weidle, M. Luther, C. Grünauer-Kloevekorn

Publikováno v: Klinische Monatsblätter für Augenheilkunde. 233:187-194

Hintergrund: Als molekulargenetische Ursache der Fuchs-Hornhautendotheldystrophie (FECD), eine der haufigsten Indikationen fur eine Keratoplastik, wurde sowohl eine TGC-Trinukleotid-Repeat-Expansion im Intron 2 des TCF4-Gens als auch das Allel G des

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::09d7012288dd6b19f933b2e3543aff68
https://doi.org/10.1055/s-0035-1546138

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Mutationsanalyse im VSX1-Gen bei einem Patienten mit posteriorer polymorpher Hornhautdystrophie und drei Familien mit autosomal-dominant vererbter Fuchs’scher Hornhautendotheldystrophie

Autor: Claudia Grünauer-Kloevekorn, E Weidle, I. Clausen, Giw Duncker

Publikováno v: Klinische Monatsblätter für Augenheilkunde. 226:466-469

BACKGROUND: Fuchs endothelial corneal dystrophy is the most common disease of the corneal endothelium. Besides some sporadic cases, an autosomal dominant inheritance is frequently described. Mutations in the VSX-1 gene are identified as the underlyin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::415c40f44c2e7914b74da3a0b4f8a8bb
https://doi.org/10.1055/s-0028-1109427

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TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings

Autor: Gernot I.W. Duncker, U G Froster, Thomas Reinhard, Claudia Auw-Haedrich, H E Völcker, I. Clausen, D P Schulze, Daniel F. Schorderet, F. Tost, W Heinritz, M Wolter-Roessler, Claudia Gruenauer-Kloevekorn, E Weidle

Publikováno v: British Journal of Ophthalmology. 93:932-937

Background: To report the clinical, histopathological and immunohistochemical findings of two novel mutations within the TGFBI gene. Methods: The genotype of 41 affected members of 16 families and nine sporadic cases was investigated by direct sequen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a544620c37473e74aa567a2685fb40ef
https://doi.org/10.1136/bjo.2008.142927

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[TGC Repeats in Intron 2 of the TCF4 Gene have a Good Predictive Power Regarding to Fuchs Endothelial Corneal Dystrophy]

Autor: M, Luther, C, Grünauer-Kloevekorn, E, Weidle, E, Passarge, A, Rupprecht, K, Hoffmann, S, Foja

Publikováno v: Klinische Monatsblatter fur Augenheilkunde. 233(2)

Fuchs endothelial corneal dystrophy (FECD) is one of the most common indications for corneal transplants. FECD is associated with various genes, e.g., COL8A2 or SLC4A11. Among other things a TGC trinucleotide repeat expansion in intron 2 of the TCF4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0b32afc7d76ec686d581445bf2f9f06b
https://pubmed.ncbi.nlm.nih.gov/26280645

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Molekulargenetische und histopathologische Untersuchungen zur Genotyp-Phänotyp-Analyse bei Patienten mit TGFBI-gekoppelten Hornhautdystrophien

Autor: F. Tost, C Auw-Haedrich, Claudia Grünauer-Kloevekorn, M Wolter-Roessler, Ursula G. Froster, H E Völcker, W Heinritz, S Braeutigam, Giw Duncker, E Weidle

Publikováno v: Klinische Monatsblätter für Augenheilkunde. 223:829-836

Purpose Different missense mutations in the TGFBI gene cause granular (Groenouw CDGG1, Avellino CDA, Reis-Bucklers CDB1) and lattice (Type I; Biber-Haab-Dimmer; CDL1) corneal dystrophies and, in some reports, corneal dystrophy Thiel-Behnke (CDB2). We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fcc1c9406b043d4dd7ae1d7c54fd5168
https://doi.org/10.1055/s-2006-926694

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Molekulargenetische Analyse des BIGH3-Gens bei gittriger Hornhautdystrophie Typ I (Biber-Haab-Dimmer) und bei bröckliger Hornhautdystrophie Typ II (Avellino): Erlauben Hot Spots einen indirekten Mutationsnachweis?

Autor: Claudia Grünauer-Kloevekorn, M Wolter-Roessler, E Weidle, Ursula G. Froster, S Bräutigam, Giw Duncker, F. Tost

Publikováno v: Klinische Monatsblätter für Augenheilkunde. 222:1017-1023

Background Mutations of the BIGH3 gene were delineated as the underlying gene defect for corneal dystrophy Lattice Type I (CDL1) and corneal dystrophy Avellino type (CDA) in families with different regional provenance. Missense mutations in exon 4 wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::78de985016757ff5a56f34fb7d5433ba
https://doi.org/10.1055/s-2005-858589

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[Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]

Autor: I, Clausen, E, Weidle, G, Duncker, C, Grünauer-Kloevekorn

Publikováno v: Klinische Monatsblatter fur Augenheilkunde. 226(6)

Fuchs endothelial corneal dystrophy is the most common disease of the corneal endothelium. Besides some sporadic cases, an autosomal dominant inheritance is frequently described. Mutations in the VSX-1 gene are identified as the underlying gene defec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c2b6039ca1806daa78b0a8d602234b70
https://pubmed.ncbi.nlm.nih.gov/19507099

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[Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]

Autor: C, Grünauer-Kloevekorn, S, Braeutigam, E, Weidle, M, Wolter-Roessler, F, Tost, C, Auw-Haedrich, H E, Völcker, W, Heinritz, U, Froster, G, Duncker

Publikováno v: Klinische Monatsblatter fur Augenheilkunde. 223(10)

Different missense mutations in the TGFBI gene cause granular (Groenouw CDGG1, Avellino CDA, Reis-Bücklers CDB1) and lattice (Type I; Biber-Haab-Dimmer; CDL1) corneal dystrophies and, in some reports, corneal dystrophy Thiel-Behnke (CDB2). We report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::61e184420aa726ace696f5bee218b361
https://pubmed.ncbi.nlm.nih.gov/17063427

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[Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?]

Autor: C, Grünauer-Kloevekorn, S, Bräutigam, M, Wolter-Roessler, F, Tost, E, Weidle, U, Froster, G I W, Duncker

Publikováno v: Klinische Monatsblatter fur Augenheilkunde. 222(12)

Mutations of the BIGH3 gene were delineated as the underlying gene defect for corneal dystrophy Lattice Type I (CDL1) and corneal dystrophy Avellino type (CDA) in families with different regional provenance. Missense mutations in exon 4 with single b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::18d6babd84bdd927351da0e86d6e1c0c
https://pubmed.ncbi.nlm.nih.gov/16380889

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