Literature DB >> 10192379

A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

K N North, N Yang, D Wattanasirichaigoon, M Mills, S Easteal, A H Beggs.   

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Year:  1999        PMID： 10192379     DOI： 10.1038/7675

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  117 in total

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Review 2.  Animal models of muscular dystrophy.

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Review 3.  Genes and human elite athletic performance.

Authors:  Daniel G Macarthur; Kathryn N North
Journal:  Hum Genet       Date:  2005-02-22       Impact factor: 4.132

Review 4.  The sarcomeric Z-disc: a nodal point in signalling and disease.

Authors:  Derk Frank; Christian Kuhn; Hugo A Katus; Norbert Frey
Journal:  J Mol Med (Berl)       Date:  2006-01-17       Impact factor: 4.599

5.  Does complete deficiency of muscle alpha actinin 3 alter functional capacity in elderly women? A preliminary report.

Authors:  A F San Juan; F Gomez-Gallego; S Cañete; C Santiago; M Pérez; A Lucia
Journal:  Br J Sports Med       Date:  2006-01       Impact factor: 13.800

6.  Human skeletal muscle type 1 fibre distribution and response of stress-sensing proteins along the titin molecule after submaximal exhaustive exercise.

Authors:  Satu O A Koskinen; Heikki Kyröläinen; Riina Flink; Harri P Selänne; Sheila S Gagnon; Juha P Ahtiainen; Bradley C Nindl; Maarit Lehti
Journal:  Histochem Cell Biol       Date:  2017-07-15       Impact factor: 4.304

7.  Functional characterization of a haplotype in the AKT1 gene associated with glucose homeostasis and metabolic syndrome.

Authors:  Brennan T Harmon; Stephanie A Devaney; Heather Gordish-Dressman; Erica K Reeves; Po Zhao; Joseph M Devaney; Eric P Hoffman
Journal:  Hum Genet       Date:  2010-09-26       Impact factor: 4.132

8.  Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis.

Authors:  Kenneth C Parker; Sek Won Kong; Ronan J Walsh; Mohammad Salajegheh; Behzad Moghadaszadeh; Anthony A Amato; Remedios Nazareno; Yin Yin Lin; Bryan Krastins; David A Sarracino; Alan H Beggs; Jack L Pinkus; Steven A Greenberg
Journal:  Muscle Nerve       Date:  2009-06       Impact factor: 3.217

9.  ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.

Authors:  Jane T Seto; Kate G R Quinlan; Monkol Lek; Xi Fiona Zheng; Fleur Garton; Daniel G MacArthur; Marshall W Hogarth; Peter J Houweling; Paul Gregorevic; Nigel Turner; Gregory J Cooney; Nan Yang; Kathryn N North
Journal:  J Clin Invest       Date:  2013-09-16       Impact factor: 14.808

10.  ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

Authors:  Xavière Lornage; Norma B Romero; Claire A Grosgogeat; Edoardo Malfatti; Sandra Donkervoort; Michael M Marchetti; Sarah B Neuhaus; A Reghan Foley; Clémence Labasse; Raphaël Schneider; Robert Y Carlier; Katherine R Chao; Livija Medne; Jean-François Deleuze; David Orlikowski; Carsten G Bönnemann; Vandana A Gupta; Michel Fardeau; Johann Böhm; Jocelyn Laporte
Journal:  Acta Neuropathol       Date:  2019-01-30       Impact factor: 17.088
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