PMC Links for Protein (Select 4557405) - PMC

Select item 67702891.

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

Abstract Article PDF–2.6M

Select item 67426462.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 59156243.

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

Abstract Article PDF–341K

Select item 68594134.

Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia

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

Abstract Article PDF–291K

Select item 67565005.

Characterization of the Goose CAPN3 Gene and its Expression Pattern in Muscle Tissues of Sichuan White Geese at Different Growth Stages

Hengyong Xu, Yahui Zhang, Quan Zou, Liang Li, Chunchun Han, Hehe Liu, Jiwei Hu, Tao Zhong, Yan Wang

J Poult Sci. 2018; 55(3): 172–181. Published online 2018 Feb 25. doi: 10.2141/jpsa.0170150

PMCID:: PMC6756500

Abstract Article PDF–2.6M

Select item 52666446.

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Hemakumar M. Reddy, Kyung-Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D. Jones, Satomi Mitsuhashi, Basil T. Darras, Anthony A. Amato, Hart G.W. Lidov, Catherine A. Brownstein, David M. Margulies, Timothy W. Yu, Mustafa A. Salih, Louis M. Kunkel, Daniel G. MacArthur, Peter B. Kang

J Hum Genet. Author manuscript; available in PMC 2017 Apr 6.

Published in final edited form as: J Hum Genet. 2017 Feb; 62(2): 243–252. Published online 2016 Oct 6. doi: 10.1038/jhg.2016.116

PMCID:: PMC5266644

Abstract Article PDF–600K

Select item 48187447.

Natural history of LGMD2A for delineating outcome measures in clinical trials

Isabelle Richard, Jean‐Yves Hogrel, Daniel Stockholm, Christine A. M. Payan, Françoise Fougerousse, The Calpainopathy Study Group, Bruno Eymard, Claude Mignard, Adolfo Lopez de Munain, Michel Fardeau, Jon Andoni Urtizberea

Ann Clin Transl Neurol. 2016 Apr; 3(4): 248–265. Published online 2016 Mar 4. doi: 10.1002/acn3.287

PMCID:: PMC4818744

Abstract Article PDF–2.0M

Select item 35259678.

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

Guojie Zhang, Zhang Pei, Edward V Ball, Matthew Mort, Hildegard Kehrer-Sawatzki, David N Cooper

Hum Genomics. 2011; 5(5): 453–484. Published online 2011 Jul 1. doi: 10.1186/1479-7364-5-5-453

PMCID:: PMC3525967

Abstract Article PDF–194K

Select item 33293769.

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

Cristina Dias, Murat Sincan, Praveen F. Cherukuri, Rosemarie Rupps, Yan Huang, Hannah Briemberg, Kathryn Selby, James C. Mullikin, Thomas C. Markello, David R. Adams, William A. Gahl, Cornelius F. Boerkoel

Hum Mutat. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: Hum Mutat. 2012 Apr; 33(4): 614–626. Published online 2012 Feb 28. doi: 10.1002/humu.22032

PMCID:: PMC3329376

Abstract Article PDF–2.0M

Select item 315387610.

Calpain chronicle—an enzyme family under multidisciplinary characterization

Hiroyuki SORIMACHI, Shoji HATA, Yasuko ONO

Proc Jpn Acad Ser B Phys Biol Sci. 2011 Jun 10; 87(6): 287–327. doi: 10.2183/pjab.87.287

PMCID:: PMC3153876

Abstract Article PDF–4.7M

Select item 291238511.

Calpain 8/nCL-2 and Calpain 9/nCL-4 Constitute an Active Protease Complex, G-Calpain, Involved in Gastric Mucosal Defense

Shoji Hata, Manabu Abe, Hidenori Suzuki, Fujiko Kitamura, Noriko Toyama-Sorimachi, Keiko Abe, Kenji Sakimura, Hiroyuki Sorimachi

PLoS Genet. 2010 Jul; 6(7): e1001040. Published online 2010 Jul 29. doi: 10.1371/journal.pgen.1001040

PMCID:: PMC2912385

Abstract Article PDF–4.6M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 11

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity