Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Ingrun Anton‐Lamprecht"'
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
https://doi.org/10.1002/ajmg.a.30443
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
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
https://doi.org/10.1096/fj.99-0970com
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
https://doi.org/10.1007/s001050051113
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
https://doi.org/10.1002/(sici)1098-1004(1998)12:6<377::aid-humu3>3.0.co
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
https://doi.org/10.1111/1523-1747.ep12336264
Autor:
Jan-Olof Winberg, Karen Kerbacher, Nadja Hammami-Hauasli, Mirjam Zimmermann, Susan L. Naylor, Øivind Nilssen, Ingrun Anton-Lamprecht, Peter Krajci, Tobias Gedde-Dahl, Leena Bruckner-Tuderman
Publikováno v:
Human Molecular Genetics. 6:1125-1135
Dystrophic epidermolysis bullosa (EBD) is a clinically heterogeneous skin disorder, characterized by abnormal anchoring fibrils (AF) and loss of dermal-epidermal adherence. EBD has been linked to the COL7A1 gene at chromosome 3p21 which encodes colla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0db7f7055ce292bb5d57c863fdc7f35
https://doi.org/10.1093/hmg/6.7.1125
https://doi.org/10.1093/hmg/6.7.1125
Autor:
Ingrid Hausser, Ingrun Anton-Lamprecht
Publikováno v:
Pediatric Dermatology. 13:183-199
We examined skin biopsy specimens from 17 of 19 newborns or infants with generalized ichthyosiform, exfoliative, seborrheic, or psoriasiform erythroderma. The specimens showed similar characteristic but nonspecific and therefore, at first sight, unin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c02f73c366f779e420dfac254119930
https://doi.org/10.1111/j.1525-1470.1996.tb01202.x
https://doi.org/10.1111/j.1525-1470.1996.tb01202.x
Ultrastructural Identification of Basic Abnormalities as Clues to Genetic Disorders of the Epidermis
Autor:
Ingrun Anton-Lamprecht
Publikováno v:
Journal of Investigative Dermatology. 103(5):S6-S12
The present article discusses specific, directly gene-dependent ultrastructural markers of dominantly inherited epidermal disorders that serve as clues to their underlying molecular genetic abnormalities. These are epidermolysis bullosa simplex Koebn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ddb4dfd20399fe2d9a146f747b92350