Your search matched a total of 65 documents. Results 1 - 10.
Homo sapiens
Gene: ... in all translated exons and flanking intronic sequences, in the EXT1 and EXT2 genes, by conformation... in vitro using recombinant enzymes. Interestingly, all four EXT1 missense mutations occurred in an arginine...Disease relevance of EXT1 Hereditary multiple exostoses( HME ), a dominantly inherited genetic...
Mus musculus
Gene: ... High impact information on Ext1 The importance of proteoglycans for proliferation increases during... 2. The average molecular sizes of the heparan sulfate chains from wild type and Ext1 mutant... and immunohistochemistry revealed that Ext1 mutant fibroblasts still produced small amounts of heparan sulfate. Thyroid...
MeSH term: ... members of two EXT1 families. Determining the complete exon- intron structure of JAG1 allowed detailed... inhibitors. Here we report that although all nonsense and frameshift mutations that cause premature... was found. All externally, suppressible frameshift mutations occur in glycine and proline codons to produce...
MeSH term: ... Disease relevance of Chondrosarcoma EXT1- and EXT2- mutation analysis was performed in a total... studies in sporadic and exostosis- derived chondrosarcomas suggest that the 8q24. 1- encoded EXT1 gene may... for EXT1 and chromosome 3q. Loss of heterozygosity in chondrosarcomas for markers linked to hereditary...
MeSH term: ... that a founder effect accounted for the recurrence of each mutation. Our detection of an EXT1 mutation in one... population, all families being linked to CCM1 on 7q( refs 4, 7). We conclude that PEX7 is responsible... mutation occurs in all the families with the shared BRCA2 haplotype indicating a founder effect. CETP...
MeSH term: ... Disease relevance of Exostoses, Multiple Hereditary It maps proximal of EXT1, which is affected..., and trichorhinophalangeal syndrome. Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses( familial osteochondromatosis). Germline mutation and functional loss of EXT1 or EXT2...
MeSH term: ... mutation. EXT1 is the most frequent single cause of EXT in the Caucasian population in Europe and North... in about 7% of all cases of RP in North America, a frequency similar to the RPGR gene( 8...
Links to contributing authors:
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
