Results 61 to 70 of about 1,181 (166)

Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy

open access: yesFrontiers in Genetics, 2019
Even though genetic studies of individuals with neuromuscular diseases have uncovered the molecular background of many cardiac disorders such as cardiomyopathies and inherited arrhythmic syndromes, the genetic cause of a proportion of cardiomyopathies ...
Artem Kiselev   +21 more
doaj   +1 more source

Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity. [PDF]

open access: yesPLoS ONE, 2010
Dysferlin is critical for repair of muscle membranes after damage. Mutations in dysferlin lead to a progressive muscular dystrophy. Recent studies suggest additional roles for dysferlin.
Antoine de Morrée   +7 more
doaj   +1 more source

Localization of dysferlin and myoferlin in airway epithelial cells. [PDF]

open access: yes, 2012
16HBE cells were grown to confluency on 8 well chamber slides and fixed for immunofluorescence analysis. Immunofluorescent staining for (A) dysferlin (red), (B) myoferlin (red), (C) mouse immunoglobulin isotype, and nuclei stained with 4′,6-diamidino-2 ...
Tillie-Louise Hackett (92016)   +3 more
core   +1 more source

Coupling of Cell Surface Biotinylation and SILAC-Based Quantitative Proteomics Identified Myoferlin as a Potential Therapeutic Target for Nasopharyngeal Carcinoma Metastasis

open access: yesFrontiers in Cell and Developmental Biology, 2021
Distant metastasis is a major cause of treatment failure in nasopharyngeal carcinoma (NPC) patients. Cell surface proteins represent attractive targets for cancer diagnosis or therapy. However, the cell surface proteins associated with NPC metastasis are
Maoyu Li   +10 more
doaj   +1 more source

Prognostic role of myoferlin expression in patients with clear cell renal cell carcinoma [PDF]

open access: yesOncotarget, 2017
In patients with cancer, myoferlin protein hyperexpression has been correlated with poor patient prognosis. Here, we evaluated myoferlin expression in patients with clear cell renal cell carcinoma (ccRCC) and investigated the prognostic significance of myoferlin expression in these patients.One hundred and fifty-two patients with ccRCC who underwent ...
Song, Dae Hyun   +9 more
openaire   +2 more sources

Morphology change following myoferlin depletion in MDA-MB-231 cells. [PDF]

open access: yes, 2012
Immunofluorescence micrographs showing the morphology of MDA-MB-231 wild type (WT), lentiviral transduction control (LTV-ctrl), and myoferlin knockdown (MYOF-KD) stable cell lines in culture.
Samir Ghadiali (155520)   +5 more
core   +3 more sources

The multifactorial impact of receiving a hereditary angioedema diagnosis

open access: yesWorld Allergy Organization Journal, 2023
Hereditary angioedema (HAE) is a rare, chronic, debilitating genetic disorder characterized by recurrent, unpredictable, and potentially life-threatening episodes of swelling that typically affect the extremities, face, abdomen, genitals, and larynx. The
Jason Raasch, MD   +2 more
doaj   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling   +6 more
wiley   +1 more source

Characterization of FER1L5, a novel dysferlin myoferlin related protein [PDF]

open access: yes, 2009
The ferlins are mammalian homologues of the C-elegans sperm vesicle fusion protein FER-1 characterised by multiple C2 domains and a C-terminal anchor.
Ramachandran, Usha Kalyani
core  

The International Guideline for the Definition, Classification, Diagnosis and Management of Urticaria

open access: yesAllergy, EarlyView.
ABSTRACT This update and revision of the international guideline for urticaria was developed in accordance with the methods recommended by Cochrane and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group. It is an initiative of the Global Allergy and Asthma Excellence Network (GA2LEN) and its Urticaria and ...
T. Zuberbier   +221 more
wiley   +1 more source

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