PMC Links for Gene (Select 825) - PMC

STOJAN PERIC, JELENA STEVANOVIC, KATHERINE JOHNSON, ANA KOSAC, MARINA PERIC, MARIJA BRANKOVIC, ANA MARJANOVIC, MILENA JANKOVIC, BOJAN BANKO, SANJA MILENKOVIC, MILICA DURDIC, IVO BOZOVIC, JELENA NIKODINOVIC GLUMAC, DRAGANA LAVRNIC, RUZICA MAKSIMOVIC, VEDRANA MILIC-RASIC, VIDOSAVA RAKOCEVIC-STOJANOVIC

Acta Myol. 2019 Sep; 38(3): 163–171. Published online 2019 Sep 1.

PMCID:: PMC6859413

Article PDF–291K

Select item 68566195.

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

Fabiola Mavillard, Marcos Madruga‐Garrido, Eloy Rivas, Emilia Servián‐Morilla, Rainiero Ávila‐Polo, Irene Marcos, Francisco J. Morón, Carmen Paradas, Macarena Cabrera‐Serrano

Ann Clin Transl Neurol. 2019 Nov; 6(11): 2328–2333. Published online 2019 Oct 14. doi: 10.1002/acn3.50910

PMCID:: PMC6856619

Article PDF–874K

Select item 67702896.

Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations

Jaione Lasa-Elgarresta, Laura Mosqueira-Martín, Neia Naldaiz-Gastesi, Amets Sáenz, Adolfo López de Munain, Ainara Vallejo-Illarramendi

Int J Mol Sci. 2019 Sep; 20(18): 4548. Published online 2019 Sep 13. doi: 10.3390/ijms20184548

PMCID:: PMC6770289

Article PDF–2.6M

Select item 59156247.

AUTOSOMAL DOMINANT CALPAINOPATHY DUE TO HETEROZYGOUS CAPN3 C.643_663DEL21

JENNIFER M. MARTINEZ-THOMPSON, ZHIYV NIU, JENNIFER A. TRACY, STEVEN A. MOORE, ANDREA SWENSON, ERIC D. WIEBEN, MARGHERITA MILONE

Muscle Nerve. Author manuscript; available in PMC 2018 Apr 24.

Published in final edited form as: Muscle Nerve. 2018 Apr; 57(4): 679–683. Published online 2017 Sep 30. doi: 10.1002/mus.25970

PMCID:: PMC5915624

Article PDF–341K

Select item 52458898.

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation

Carlos A. Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C. Zenteno

PLoS One. 2017; 12(1): e0170280. Published online 2017 Jan 19. doi: 10.1371/journal.pone.0170280

PMCID:: PMC5245889

Article PDF–1.2M

Select item 48553459.

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Inna Inashkina, Eriks Jankevics, Janis Stavusis, Inta Vasiljeva, Kristine Viksne, Ieva Micule, Jurgis Strautmanis, Maruta S. Naudina, Loreta Cimbalistiene, Vaidutis Kucinskas, Astrida Krumina, Algirdas Utkus, Birute Burnyte, Ausra Matuleviciene, Baiba Lace

BMC Musculoskelet Disord. 2016; 17: 200. Published online 2016 May 4. doi: 10.1186/s12891-016-1058-z

PMCID:: PMC4855345

Article PDF–438K

Select item 469695010.

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

Hyung Jun Park, Hoon Jang, Jung Hwan Lee, Ha Young Shin, Sung-Rae Cho, Kee Duk Park, Duhee Bang, Min Goo Lee, Seung Min Kim, Ji Hyun Lee, Young-Chul Choi

Yonsei Med J. 2016 Jan 1; 57(1): 173–179. Published online 2015 Nov 30. doi: 10.3349/ymj.2016.57.1.173

PMCID:: PMC4696950

Article PDF–2.2M

Select item 431996911.

Calpain-3 Impairs Cell Proliferation and Stimulates Oxidative Stress-Mediated Cell Death in Melanoma Cells

Daniele Moretti, Barbara Del Bello, Giulia Allavena, Alessandro Corti, Cinzia Signorini, Emilia Maellaro

PLoS One. 2015; 10(2): e0117258. Published online 2015 Feb 6. doi: 10.1371/journal.pone.0117258

PMCID:: PMC4319969

Article PDF–1.4M

Select item 428060912.

The N- and C-terminal autolytic fragments of CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation

Yasuko Ono, Mayumi Shindo, Naoko Doi, Fujiko Kitamura, Carol C. Gregorio, Hiroyuki Sorimachi

Proc Natl Acad Sci U S A. 2014 Dec 23; 111(51): E5527–E5536. Published online 2014 Dec 15. doi: 10.1073/pnas.1411959111

PMCID:: PMC4280609

Article PDF–1.3M

Select item 333838613.

Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

Simon Hauerslev, Marie-Louise Sveen, Morten Duno, Corrado Angelini, John Vissing, Thomas O Krag

BMC Musculoskelet Disord. 2012; 13: 43. Published online 2012 Mar 23. doi: 10.1186/1471-2474-13-43

PMCID:: PMC3338386

Article PDF–2.1M

Select item 298626714.

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

Marina Fanin, Anna Chiara Nascimbeni, Elisabetta Tasca, Corrado Angelini

Eur J Hum Genet. 2009 May; 17(5): 598–603. Published online 2008 Oct 15. doi: 10.1038/ejhg.2008.193

PMCID:: PMC2986267

Article PDF–119K

Select item 296686515.

Transcriptional and Translational Effects of Intronic CAPN3 Gene Mutations

Anna Chiara Nascimbeni, Marina Fanin, Elisabetta Tasca, Corrado Angelini

Hum Mutat. 2010 Jul 15; 31(9): e1658–e1669. doi: 10.1002/humu.21320

PMCID:: PMC2966865

Article PDF–334K

Select item 269363916.

Mutations of CAPN3 in Korean Patients with Limb-Girdle Muscular Dystrophy

Jin-Hong Shin, Hyang-Suk Kim, Chang-Hoon Lee, Cheol-Min Kim, Kyu-Hyun Park, Dae-Seong Kim

J Korean Med Sci. 2007 Jun; 22(3): 463–469. Published online 2007 Jun 30. doi: 10.3346/jkms.2007.22.3.463

PMCID:: PMC2693639

Article PDF–278K

Select item 261482417.

Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance

Jacques S Beckmann, Melissa Spencer

Neuromuscul Disord. Author manuscript; available in PMC 2009 Dec 1.

Published in final edited form as: Neuromuscul Disord. 2008 Dec; 18(12): 913–921. Published online 2008 Oct 29. doi: 10.1016/j.nmd.2008.08.005

PMCID:: PMC2614824

Article PDF–798K

Select item 259790618.

Screening of calpain‐3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations

M Fanin, A C Nascimbeni, C Angelini

J Med Genet. 2007 Jan; 44(1): 38–43. doi: 10.1136/jmg.2006.044859

PMCID:: PMC2597906

Article PDF–693K

Select item 173613319.

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

G Piluso, L Politano, S Aurino, M Fanin, E Ricci, V Ventriglia, A Belsito, A Totaro, V Saccone, H Topaloglu, A Nascimbeni, L Fulizio, A Broccolini, N Canki-Klain, L Comi, G Nigro, C Angelini, V Nigro

J Med Genet. 2005 Sep; 42(9): 686–693. doi: 10.1136/jmg.2004.028738