Your search matched a total of 28 documents. Results 1 - 10.
Mus musculus
Gene: ... Disease relevance of Col7a1 Dystrophic forms of epidermolysis bullosa( DEB) are associated with mutations in the type VII collagen gene( Col7a1) which encodes the major component of anchoring fibrils. Targeted inactivation of the type VII collagen gene( Col7a1) in mice results in severe blistering phenotype...
MeSH term: ... cells. Transduction of lentiviral vectors containing the COL7A1 transgene into recessive DEB( RDEB... of these lesions has revealed that basic fibroblast growth factor( bFGF) is synthesized in all three stages...
Homo sapiens
Gene: ... ). All exons in the COL7A1 triple helix coding region that do not begin with sequences corresponding...Disease relevance of COL7A1 A naturally occurring deletion in the human COL7A1 gene, 8523del14...- epidermal junction. Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification...
Homo sapiens
Gene: ... to the COL7A1 gene. We used chromatin immunoprecipitation with antibodies to RNA polymerase II( RNAPol- Ch...
MeSH term: ... sequencing demonstrated pathogenetic COL7A1 mutations in each case. Analytical, diagnostic and therapeutic... and that will detect approximately 50% of all BRCA1 mutations so far reported in breast/ ovarian cancer families... of the AVP gene, the wild- type but not the mutant transcript is subject to axonal compartmentation. All...
MeSH term: ... . Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa... Bullosa The complete cDNA sequence and polymorphisms in COL7A1 will facilitate mutational analysis... in COL7A1 have been demonstrated. These results show that freeze- drying is the technique of choice...
Homo sapiens
Gene: ... of COL7A1 revealed a marked shift in the electrophoretic pattern in patients from a large Finnish dominant dystrophic EB family with genetic linkage to the COL7A1 locus( Z= 5. 37, theta= 0). Type I/ I.... 0. All affected individuals share a single haplotype for seven tightly linked contiguous markers...
MeSH term: ... in- frame skipping of exon 19 of COL7A1 in the cDNA were detected, and in the junctional... by mutations in the human type VII collagen gene( COL7A1). To determine the efficacy of phenytoin... of Epidermolysis Bullosa Dystrophica Genetic linkage of type VII collagen( COL7A1) to dominant dystrophic...
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Steven Johnsen and Donald R. Forsdyke and Kehinde Ross and Andrew Perry and Jonathan Eisen and A. Shimabukuro-Vornhagen and Giuseppe Rotondo and Gordon Laurie and Berkley Lynch and Kung-Hao Liang and Matthias Gstaiger and Thomas Pfeiffer and Marta Ramirez and Grant MacGregor and Jingyu Li and Fedik Rahimov and M El Gizouli and Marta Ramirez Gaite and Oswaldo Ribeiro-filho and Ralf Weigel and Bjoern Hamberger and Alexander Kanitz and Andreas Zankl and Chunming Ding and Maruf Yunus and Jonathan S. Berg and Michael Cariaso and Zakir Thomas and Monique Timberlake-Brady and LC Dore and Nan Shen and R. Eric Collins and Kuang-Mao Chiang and Brendan McMahon and John Chew and Wen-Ming Yang and Robert Hoffmann and J.B. Stewart and Manuela Cucerea and Ignacio García and William James and Thomas Kelder and Gregory Melahn and YINGDE ZHU and Andres Muro and Gabriel Santpere and Jeff Freilich and Junbin Qian and Steffen Poulsen and Eric Villard and Rafael Sidi and Grant Cramer and Chris Sander and Alexandre Chigaev and Florian Uhle and Carl Fulp and Andrew Brown and Xiaozhu Zhou and Corina Dutu and Hilary Spencer and david germano and Abbas Dehghan and Eung-ju PARK and Chris Sander and Albert Vilella and Miao Tian and Anjali Bheda and Michael Nevels and Jun Liu and D Delano and Chitose Taya and Soomi Cheong and David Kavanagh and Maha Karnoub and Hilmar Lapp and Christian Pallasch and Daniel Mietchen and Biju Balakrishnan and Keith Ashman and Juan Carlos Sobrino and Anshu Bhardwaj and Grzegorz Wickiel and Matthew Day and Anthony Sebastian and Vedran Katavic and Liang Long and Barry Wanner and Sarah Snelling and Fernando Montanes and Omobosede Fashedemi and Gustavo Cervantes and Manoj Kumar and Edward D Great and Paul Paukstelis and Roy Soetikno and Ana I Caño-Delgado and Minsoo Choi and Lei Wang and Brenda Riley and A Michelle Moon and Jon Moulton and Mahmoud Elshahawy and Meagan Gillespie and Banundari Rachmawati and Qian Han and Eric Danner and Xavier Fouillet and Madhusudhan Acharya and Brian Young and Chandra Sekhar Mukhopadhyay and shrawan bhattacharjee and Marieke van der Linden and cj hoban and Sandi Pniauskas and jackie gao and Metin Bilgin and Gillian L. Dalgliesh and Karl Wotton and Iveta Herichova and Yuji Morita and Marta Hernandez and Gregor Krings and Marco Briones and Tim D. Smith and Yiumo Michael Chan and Zhenyu Guo and Barry Barclay and Hong Wang and tarali chowdhury and Tilman Brummer and Nuno Faria and Tamir Ben David and Myles Axton and Yannick Fonseca and Francis Castets and Modesto Redrejo-Rodríguez and Bruce Herron and Toshio Fujita and Elena Puccetti and Zhang Zhang and John Osborne and Illes J Farkas and Fernando Andres and Phyllis Pugh and Jonathan Court and Tim Vickers and Nir Friedman and Holger Dick and Ya-Chen Liang and Jonathan Froehlich and Haitham Sobhy and David Abraham and Stephane Krief and Yaroslav Nikolaev and Qiping Feng and d gupta and R Thapar and Susan Wee and Michael Rehman and SOUMITRA GHOSH and Mohamed Eweida and Cedric Uytingco and Nie hongchuan and David Steenblock and Mark A. Kukucka and Zoli Fekete and Sergei Kozlov and Javier Jara and Osama Naguib and Felix Benninger and jean-marc lo-guidice and VASUDEVA BHAT and Anne O. Summers and Bjoern Titz and Anna Levine and Klas Udekwu and Robert Hoffmann
