Zobrazeno 1 - 10 of 108 pro vyhledávání: '"Ingrun Anton‐Lamprecht"'
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Akademický článek
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Akademický článek
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Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes
Autor: Carsten G. Bönnemann, Hans-Jürgen Christen, Susan C. Brown, Yaqun Zou, Ingrid Hausser, Folker Hanefeld, Francesco Muntoni, Janbernd Kirschner, Ingrun Anton-Lamprecht, Gudrun Schreiber
Publikováno v: American Journal of Medical Genetics Part A. :296-301
Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in the three genes coding for the alpha chains of collagen VI and characterized by generalized muscle weakness, striking hypermobility of distal joints in conjunction with variable c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a24e4793b32b5d3876e0d6332f5fc0f8
https://doi.org/10.1002/ajmg.a.30443
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6
A Site-Specific Plectin Mutation Causes Dominant Epidermolysis Bullosa Simplex Ogna: Two Identical De Novo Mutations
Autor: Bjørn Høyheim, Dörte Koss-Harnes, Aud. Gjesti, Tobias Gedde-Dahl, Frode L. Jahnsen, Bjørnar Olaisen, Randi S. Jørgensen, Ingrun Anton-Lamprecht, Gerhard Wiche
Publikováno v: Journal of Investigative Dermatology. 118(1):87-93
Plectin is one of the largest and most versatile cytolinker proteins known. In basal keratinocytes it links the intermediate filament network to cell membrane-associated hemidesmosomes. Several mutations in its gene have been identified that lead to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b97c7a0359aeb48aa421d63fa6bcec5b
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7
Cathepsin L deficiency as molecular defect offurless:hyperproliferation of keratinocytes and pertubation of hair follicle cycling
Autor: Peter J. Schmidt, Jan M. Deussing, Christoph Peters, Paul Saftig, A. Hafner, Wolfgang W. Schmahl, Vladimir A. Botchkarev, Ingrun Anton-Lamprecht, Ralf Paus, Wera Roth, Meike Pauly-Evers, Johanna Scherer, Kurt von Figura
Publikováno v: The FASEB Journal. 14:2075-2086
Lysosomal cysteine proteinases of the papain family are involved in lysosomal bulk proteolysis, major histocompatibility complex class II mediated antigen presentation, prohormone processing, and extracellular matrix remodeling. Cathepsin L (CTSL) is
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51082b5bf4f7553746ff95feb74793bb
https://doi.org/10.1096/fj.99-0970com
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8
Sjörgen-Larsson-Syndrom
Autor: Johannes Limbrock, Matthias Möhrenschlager, Johannes Ring, Dietrich Abeck, Cornelia Kraus, Ingrun Anton-Lamprecht, Monika Cohen, William B. Rizzo
Publikováno v: Der Hautarzt. 51:250-255
This rare, ubiquitous neurocutaneous disorder is inherited in an autosomal recessive fashion. Its primary clinical manifestations are congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The causative biochemical defect has
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1a10d2cfc3393f3c25b496e039135187
https://doi.org/10.1007/s001050051113
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9
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome
Autor: Cornelia Kraus, Cordula Braun-Quentin, Carmen Ayuso, Anna Sillén, Sten Jagell, Claes Wadelius, Wolfgang Küster, Ingrun Anton-Lamprecht, Bekir Sitki Sayli
Publikováno v: Human Mutation. 12:377-384
The gene encoding the human fatty aldehyde dehydrogenase (FALDH) is located on 17p11.2, causing Sjogren-Larsson syndrome (SLS) when mutated. SLS is an autosomal recessive disorder characterized by a combination of mental retardation, congenital ichth
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::863fa99a7ca214fe93b97ab6f9772467
https://doi.org/10.1002/(sici)1098-1004(1998)12:6<377::aid-humu3>3.0.co
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10
A Combination of a Common Splice Site Mutation and Frameshift Mutation in the COL7A1 Gene: Absence of Functional Collagen VII in Keratinocytes and Skin
Autor: Bertram F. Pontz, Leena Bruckner-Tuderman, Ulrich Kalinke, D. Ulrike Kalinke, Hauke Schumann, Mirjam Zimmermann, Nadja Hammami-Hauasli, Leena Pulkkinen, Jouni Uitto, Ingrun Anton-Lamprecht
Publikováno v: Journal of Investigative Dermatology. 109:384-389
We describe a patient with severe generalized dystrophic epidermolysis bullosa (EBD) and a novel combination of compound heterozygous mutations in the COL7A1 gene. The maternal mutation was an A-to-G transition (425-A --> G) at position -2 of the don
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63090d49eac8bf2002e9a6f796ba3248
https://doi.org/10.1111/1523-1747.ep12336264
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