Publications:

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Eccentric contraction-induced strength loss in dystrophin-deficient muscle: Preparations, protocols, and mechanisms.

The Journal Of General Physiology

Kiriaev, Leonit L; Baumann, Cory W CW; Lindsay, Angus A

Publication Date: 2023-02-06

Variant appearance in text: DMD: L54R

PubMed Link: 36651896

Variant Present in the following documents:

• Main text
• JGP_202213208.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: DMD: L54R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Genes

Alcántara-Ortigoza, Miguel Angel MA; Reyna-Fabián, Miriam Erandi ME; González-Del Angel, Ariadna A; Estandia-Ortega, Bernardette B; Bermúdez-López, Cesárea C; Cruz-Miranda, Gabriela Marisol GM; Ruíz-García, Matilde M

Publication Date: 2019-10-29

Variant appearance in text: DMD: Leu54Arg; rs128626231

PubMed Link: 31671740

Variant Present in the following documents:

• Main text
• genes-10-00856.pdf

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Structural Interface Forms and Their Involvement in Stabilization of Multidomain Proteins or Protein Complexes.

International Journal Of Molecular Sciences

Dygut, Jacek J; Kalinowska, Barbara B; Banach, Mateusz M; Piwowar, Monika M; Konieczny, Leszek L; Roterman, Irena I

Publication Date: 2016-10-18

Variant appearance in text: DMD: L54R

PubMed Link: 27763556

Variant Present in the following documents:

• Main text
• ijms-17-01741.pdf

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Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.

Plos One

Toh, Zhi Yon Charles ZY; Thandar Aung-Htut, May M; Pinniger, Gavin G; Adams, Abbie M AM; Krishnaswarmy, Sudarsan S; Wong, Brenda L BL; Fletcher, Sue S; Wilton, Steve D SD

Publication Date: 2016

Variant appearance in text: DMD: L54R

PubMed Link: 26745801

Variant Present in the following documents:

• Main text
• pone.0145620.pdf

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Disease-proportional proteasomal degradation of missense dystrophins.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Talsness, Dana M DM; Belanto, Joseph J JJ; Ervasti, James M JM

Publication Date: 2015-10-06

Variant appearance in text: DMD: L54R

PubMed Link: 26392559

Variant Present in the following documents:

• Main text

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DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

Plos One

Juan-Mateu, Jonas J; Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Baena, Manel M; Verdura, Edgard E; Nascimento, Andres A; Ortez, Carlos C; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2015

Variant appearance in text: DMD: Leu54Arg

PubMed Link: 26284620

Variant Present in the following documents:

• Main text
• pone.0135189.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: DMD: L54R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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The Dystrophin Complex: Structure, Function, and Implications for Therapy.

Comprehensive Physiology

Gao, Quan Q QQ; McNally, Elizabeth M EM

Publication Date: 2015-07-01

Variant appearance in text: DMD: L54R

PubMed Link: 26140716

Variant Present in the following documents:

• Main text

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Thermodynamic stability, unfolding kinetics, and aggregation of the N-terminal actin-binding domains of utrophin and dystrophin.

Proteins

Singh, Surinder M SM; Molas, Justine F JF; Kongari, Narsimulu N; Bandi, Swati S; Armstrong, Geoffrey S GS; Winder, Steve J SJ; Mallela, Krishna M G KM

Publication Date: 2012-05

Variant appearance in text: DMD: L54R

PubMed Link: 22275054

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• Main text

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Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Singh, Surinder M SM; Kongari, Narsimulu N; Cabello-Villegas, Javier J; Mallela, Krishna M G KM

Publication Date: 2010-08-24

Variant appearance in text: DMD: L54R

PubMed Link: 20696926

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• Main text

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Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Henderson, Davin M DM; Lee, Ann A; Ervasti, James M JM

Publication Date: 2010-05-25

Variant appearance in text: DMD: L54R

PubMed Link: 20457930

Variant Present in the following documents:

• Main text

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