Your search matched a total of 62 documents. Results 1 - 10.
Homo sapiens
Gene: ... Disease relevance of SMN1 Homozygous mutation of SMN1 is associated with proximal spinal muscular... by homozygous loss of the survival motor neuron 1( SMN1) gene. The majority of SMA patients( 96 %) carry homozygous deletion or gene conversion of SMN1 into SMN2, which can be easily genetically tested. About 4...
Mus musculus
Gene: ... Disease relevance of Smn1 Residual Cajal bodies in coilin knockout mice fail to recruit Sm sn... as in skeletal muscle during the critical period of neuromuscular maturation. High impact information on Smn1... highly homologous copy( cBCD541, 1/ 54). Chemical compound and disease context of Smn1 A role...
Danio rerio
Gene: ... High impact information on smn1 We have demonstrated that smn1 (+) is essential for viability in S. pombe and yeast expressing missense mutations in Smn1p, which mimic mutations in patients with Type I SMA, show significant mislocalization of the protein and a decrease in cell viability....
Rattus norvegicus
Gene: ... Disease relevance of Smn1 The Ewing' s sarcoma protein interacts with the Tudor domain... by deletion and/ or mutation of the survival motor neuron protein Gene( SMN1) that results in the expression of a truncated protein lacking the C terminal exon- 7. High impact information on Smn1 Recently, genetic mouse...
Bos taurus
Gene: ... Disease relevance of SMN1 The interaction between TGS1 and SMN is disrupted by a mutation in SMN... Piedmont calf. High impact information on SMN1 SMA- determining candidate genes, SMN1 and SMN2, have been... of SMN1 Description and physical localization of the bovine survival of motor neuron gene( SMN).... / Synonyms: SMN1
MeSH term: ... Disease relevance of Motor Neurons Spinal muscular atrophy results from the lack of functional survival of motor neuron 1 gene( SMN1 ), even though all affected individuals carry a nearly identical, normal SMN2 gene. Homozygous mutation of SMN1 is associated with proximal spinal muscular atrophy( SMA...
MeSH term: ... common neurodegenerative disease caused by homozygous loss of the survival motor neuron 1( SMN1) gene...
MeSH term: ... muscular atrophy( SMA) is caused by mutations in the telomeric copy of SMN1. Mutations in the gene encoding... or mutation of the SMN1 gene reduces intracellular survival motor neurone protein levels causes spinal... Quantitative analyses of SMN1 and SMN2 based on real- time lightCycler PCR: fast and highly reliable carrier...
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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
