In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

Myofibrillar myopathies (MFMs) are an expanding and increasingly recognized group of neuromuscular disorders caused by mutations in DES, CRYAB, MYOT, and ZASP. The latest gene to be associated with MFM was FLNC; a p.W2710X mutation in the 24th immunoglobulin-like repeat of filamin C was shown to be...

Bibliografske podrobnosti
Main Authors:	Shatunov, A, Olivé, M, Odgerel, Z, Stadelmann-Nessler, C, Irlbacher, K, van Landeghem, F, Bayarsaikhan, M, Lee, H, Goudeau, B, Chinnery, P, Straub, V, Hilton-Jones, D, Damian, MS, Kaminska, A, Vicart, P, Bushby, K, Dalakas, M, Sambuughin, N, Ferrer, I, Goebel, H, Goldfarb, L
Format:	Journal article
Jezik:	English
Izdano:	2009

Podobne knjige/članki

Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems
od: Dominik Sellung, et al.
Izdano: (2023-05-01)

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
od: Dagvadorj, A, et al.
Izdano: (2003)

A meckelin-filamin A interaction mediates ciliogenesis.
od: Adams, M, et al.
Izdano: (2012)

The molecular basis of filamin binding to integrins and competition with talin.
od: Kiema, T, et al.
Izdano: (2006)

Evidence for the mechanosensor function of filamin in tissue development
od: Huelsmann, S, et al.
Izdano: (2016)

Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias
od: Joyce C. Ohiri, et al.
Izdano: (2024-05-01)

The cross-linking mechanism of filamin A in the actin cytoskeleton
od: Hartemink, Christopher Allan, 1974-
Izdano: (2008)

Targeting Cleavage of C-Terminal Fragment of Cytoskeletal Filamin A in Cancers
od: Ozgur Cakici, et al.
Izdano: (2024-08-01)

Modeling the interaction between actin and filamin 1 in the cell cytoskeleton
od: Hartemink, Christopher Allan, 1974-
Izdano: (2013)

Pathogenic Truncating Filamin C Mutations Presenting as Acute Myocarditis
od: Apostolos Vrettos, et al.
Izdano: (2024-01-01)

Role of Filamin A in Growth and Migration of Breast Cancer—Review
od: Patryk Zawadka, et al.
Izdano: (2024-04-01)

The seventh scroll /
od: 218351 Smith, Wilbur A.
Izdano: (1995)

THE SEVENTH SECRET/
od: Wallace, Irving, 1916-1990.
Izdano: (1986)

Seven Remarks on the Seventh Angel
od: Foucault, M
Izdano: (2017)

Mapping interactions of filamin and migfilin : mechanism of inside-out signaling integrins.
od: Lu, Lewis Zhiping.
Izdano: (2013)

Integrin binding immunoglobulin type filamin domains have variable stability.
od: Jiang, P, et al.
Izdano: (2008)

Structural basis of the migfilin-filamin interaction and competition with integrin beta tails.
od: Lad, Y, et al.
Izdano: (2008)

Cardiac malformations and midline skeletal defects in mice lacking filamin A.
od: Hart, A, et al.
Izdano: (2006)

Contrasting effects of filamin A and B proteins in modulating filovirus entry.
od: Ariel Shepley-McTaggart, et al.
Izdano: (2023-08-01)

Filamin A cooperates with the androgen receptor in preventing skeletal muscle senescence
od: Marzia Di Donato, et al.
Izdano: (2023-12-01)

Desmin myopathy: Distinct filamentopathy caused by mutations in the desmin gene
od: Dalakas, M, et al.
Izdano: (2002)

Rare filamin C variants among patients with hypertrophic cardiomyopathy referred for septal myectomy
od: S. E. Andreeva, et al.
Izdano: (2024-11-01)

Structure of three tandem filamin domains reveals auto-inhibition of ligand binding
od: Lad, Y, et al.
Izdano: (2007)

Structure of three tandem filamin domains reveals auto-inhibition of ligand binding.
od: Lad, Y, et al.
Izdano: (2007)

Secondary spontaneous pneumothorax as the presenting manifestation of filamin A-associated lung disease
od: Simon Holden, et al.
Izdano: (2024-09-01)

Seventh Year Of JNMA
od: No Author
Izdano: (2003-01-01)

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
od: Robertson, S, et al.
Izdano: (2003)

Assembly of a filamin four-domain fragment and the influence of splicing variant-1 on the structure.
od: Pentikäinen, U, et al.
Izdano: (2011)

Filamin protects myofibrils from contractile damage through changes in its mechanosensory region.
od: Lucas A B Fisher, et al.
Izdano: (2024-06-01)

Sustained generation of neurons destined for neocortex with oxidative metabolic upregulation upon filamin abrogation
od: Caroline A. Kopsidas, et al.
Izdano: (2024-07-01)

Generation of two hiPSCs lines of two patients carrying truncating mutations in the dimerization domain of filamin C
od: N.M. Daya, et al.
Izdano: (2024-04-01)

Seventh Annual Report. 1977
od: Irish Welfare Bureau, IWB
Izdano: (1977)

The seventh issue of Archaeology International
Izdano: (2012-12-01)

Communication in the Seventh Grade Classroom
od: Magdalena Alfaro-Rodríguez, et al.
Izdano: (2010-12-01)

Mitochondrial bioenergetics are not associated with myofibrillar protein synthesis rates
od: Andrew M. Holwerda, et al.
Izdano: (2024-10-01)

Optimization of glycosylation process of tilapia myofibrillar protein
od: LIN Ze-qian, et al.
Izdano: (2023-06-01)

Case Report: Filamin C gene mutation associated with restrictive cardiomyopathy leading to heart transplantation
od: Ludmila De Oliveira Jaime Sales, et al.
Izdano: (2024-12-01)

Unraveling the pathogenic mechanism of a novel filamin a frameshift variant in periventricular nodular heterotopia
od: Chunran Xue, et al.
Izdano: (2024-09-01)

114. NEUROMIELITIS ÓPTICA: UN CASO PARA APRENDER
od: J. Garcés Martínez, et al.
Izdano: (2024-11-01)

Assessment of Seventh Grade Students’ Capacity of Logical Thinking
od: M. Fadiana, et al.
Izdano: (2019-03-01)