Literature DB >> 12847163

Single section Western blot: improving the molecular diagnosis of the muscular dystrophies.

Sandra T Cooper1, Harriet P Lo, Kathryn N North.   

Abstract

Single section Western blot (SSWB) is an improved methodology for molecular diagnosis of the muscular dystrophies, requiring only a single 8-microm muscle biopsy cryosection for the simultaneous analysis of multiple disease candidates. The authors demonstrate that SSWB can be used for diagnosis of dystrophinopathies, to identify haploinsufficiency in autosomal dominant laminopathy, and as a tool to distinguish between primary and secondary immunohistochemical abnormalities in limb-girdle muscular dystrophy type 2B.

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Year:  2003        PMID: 12847163     DOI: 10.1212/01.wnl.0000069460.53438.38

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  32 in total

1.  Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Authors:  Nicole J Lake; Bryn D Webb; David A Stroud; Tara R Richman; Benedetta Ruzzenente; Alison G Compton; Hayley S Mountford; Juliette Pulman; Coralie Zangarelli; Marlene Rio; Nathalie Boddaert; Zahra Assouline; Mingma D Sherpa; Eric E Schadt; Sander M Houten; James Byrnes; Elizabeth M McCormick; Zarazuela Zolkipli-Cunningham; Katrina Haude; Zhancheng Zhang; Kyle Retterer; Renkui Bai; Sarah E Calvo; Vamsi K Mootha; John Christodoulou; Agnes Rötig; Aleksandra Filipovska; Ingrid Cristian; Marni J Falk; Metodi D Metodiev; David R Thorburn
Journal:  Am J Hum Genet       Date:  2017-08-03       Impact factor: 11.025

2.  Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Authors:  Sarah E Calvo; Alison G Compton; Steven G Hershman; Sze Chern Lim; Daniel S Lieber; Elena J Tucker; Adrienne Laskowski; Caterina Garone; Shangtao Liu; David B Jaffe; John Christodoulou; Janice M Fletcher; Damien L Bruno; Jack Goldblatt; Salvatore Dimauro; David R Thorburn; Vamsi K Mootha
Journal:  Sci Transl Med       Date:  2012-01-25       Impact factor: 17.956

3.  Profiling of skeletal muscle Ankrd2 protein in human cardiac tissue and neonatal rat cardiomyocytes.

Authors:  Jovana Jasnic-Savovic; Aleksandra Nestorovic; Slobodan Savic; Sinisa Karasek; Nicola Vitulo; Giorgio Valle; Georgine Faulkner; Dragica Radojkovic; Snezana Kojic
Journal:  Histochem Cell Biol       Date:  2015-01-14       Impact factor: 4.304

4.  Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Authors:  Beryl B Cummings; Jamie L Marshall; Taru Tukiainen; Monkol Lek; Sandra Donkervoort; A Reghan Foley; Veronique Bolduc; Leigh B Waddell; Sarah A Sandaradura; Gina L O'Grady; Elicia Estrella; Hemakumar M Reddy; Fengmei Zhao; Ben Weisburd; Konrad J Karczewski; Anne H O'Donnell-Luria; Daniel Birnbaum; Anna Sarkozy; Ying Hu; Hernan Gonorazky; Kristl Claeys; Himanshu Joshi; Adam Bournazos; Emily C Oates; Roula Ghaoui; Mark R Davis; Nigel G Laing; Ana Topf; Peter B Kang; Alan H Beggs; Kathryn N North; Volker Straub; James J Dowling; Francesco Muntoni; Nigel F Clarke; Sandra T Cooper; Carsten G Bönnemann; Daniel G MacArthur
Journal:  Sci Transl Med       Date:  2017-04-19       Impact factor: 17.956

5.  Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Authors:  Michaela Yuen; Sarah A Sandaradura; James J Dowling; Alla S Kostyukova; Natalia Moroz; Kate G Quinlan; Vilma-Lotta Lehtokari; Gianina Ravenscroft; Emily J Todd; Ozge Ceyhan-Birsoy; David S Gokhin; Jérome Maluenda; Monkol Lek; Flora Nolent; Christopher T Pappas; Stefanie M Novak; Adele D'Amico; Edoardo Malfatti; Brett P Thomas; Stacey B Gabriel; Namrata Gupta; Mark J Daly; Biljana Ilkovski; Peter J Houweling; Ann E Davidson; Lindsay C Swanson; Catherine A Brownstein; Vandana A Gupta; Livija Medne; Patrick Shannon; Nicole Martin; David P Bick; Anders Flisberg; Eva Holmberg; Peter Van den Bergh; Pablo Lapunzina; Leigh B Waddell; Darcée D Sloboda; Enrico Bertini; David Chitayat; William R Telfer; Annie Laquerrière; Carol C Gregorio; Coen A C Ottenheijm; Carsten G Bönnemann; Katarina Pelin; Alan H Beggs; Yukiko K Hayashi; Norma B Romero; Nigel G Laing; Ichizo Nishino; Carina Wallgren-Pettersson; Judith Melki; Velia M Fowler; Daniel G MacArthur; Kathryn N North; Nigel F Clarke
Journal:  J Clin Invest       Date:  2014-09-24       Impact factor: 14.808

6.  Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.

Authors:  Samantha J Bryen; Himanshu Joshi; Frances J Evesson; Cyrille Girard; Roula Ghaoui; Leigh B Waddell; Alison C Testa; Beryl Cummings; Susan Arbuckle; Nicole Graf; Richard Webster; Daniel G MacArthur; Nigel G Laing; Mark R Davis; Reinhard Lührmann; Sandra T Cooper
Journal:  Am J Hum Genet       Date:  2019-08-22       Impact factor: 11.025

7.  Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats.

Authors:  Paul T Martin; G Diane Shelton; Peter J Dickinson; Beverly K Sturges; Rui Xu; Richard A LeCouteur; Ling T Guo; Robert A Grahn; Harriet P Lo; Kathryn N North; Richard Malik; Eva Engvall; Leslie A Lyons
Journal:  Neuromuscul Disord       Date:  2008-11-05       Impact factor: 4.296

8.  Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

Authors:  Elizabeth Stevens; Keren J Carss; Sebahattin Cirak; A Reghan Foley; Silvia Torelli; Tobias Willer; Dimira E Tambunan; Shu Yau; Lina Brodd; Caroline A Sewry; Lucy Feng; Goknur Haliloglu; Diclehan Orhan; William B Dobyns; Gregory M Enns; Melanie Manning; Amanda Krause; Mustafa A Salih; Christopher A Walsh; Matthew Hurles; Kevin P Campbell; M Chiara Manzini; Derek Stemple; Yung-Yao Lin; Francesco Muntoni
Journal:  Am J Hum Genet       Date:  2013-02-28       Impact factor: 11.025

9.  The polyproline site in hinge 2 influences the functional capacity of truncated dystrophins.

Authors:  Glen B Banks; Luke M Judge; James M Allen; Jeffrey S Chamberlain
Journal:  PLoS Genet       Date:  2010-05-20       Impact factor: 5.917

10.  Investigation of age-related changes in LMNA splicing and expression of progerin in human skeletal muscles.

Authors:  Yue-Bei Luo; Chalermchai Mitrpant; Russell D Johnsen; Victoria A Fabian; Sue Fletcher; Frank L Mastaglia; Steve D Wilton
Journal:  Int J Clin Exp Pathol       Date:  2013-11-15
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