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| http://dx.doi.org/10.4161/cam.23276 | DOI Listing |
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A potential pathogenic mutation of LAMA4 in a Chinese family with dilated cardiomyopathy and conduction system disease.
Medicine (Baltimore)
December 2024
Department of Cardiovascular Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China.
Dilated cardiomyopathy (DCM) is characterized by ventricular dilation and poor systolic function. Approximately half of idiopathic DCM cases are assigned to genetic causes in familial or apparently sporadic cases, and more than 50 genes are reported to cause DCM. However, genetic basis of most DCM patients still keeps unknown and require further study.
View Article and Find Full Text PDFNative DGC structure rationalizes muscular dystrophy-causing mutations.
Nature
December 2024
Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder marked by progressive muscle wasting leading to premature mortality. Discovery of the DMD gene encoding dystrophin both revealed the cause of DMD and helped identify a family of at least ten dystrophin-associated proteins at the muscle cell membrane, collectively forming the dystrophin-glycoprotein complex (DGC). The DGC links the extracellular matrix to the cytoskeleton, but, despite its importance, its molecular architecture has remained elusive.
View Article and Find Full Text PDFMictlan-D3: A novel medium sized RGD-Disintegrin obtained from Crotalus mictlantecuhtli venom, in vitro tested against human breast Cancer and endothelial cells.
Toxicol In Vitro
December 2024
Departamento de Farmacología y Toxicología, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, Mexico. Electronic address:
Article Synopsis
- Disintegrins are non-toxic proteins found in viper snake venom, known for blocking integrin receptors, which are important for cell adhesion and interactions in cancer progression.
- The study focused on isolating and characterizing a specific disintegrin called mictlan-D3 from the venom of a newly identified rattlesnake species, Crotalus mictlantecuhtli, which consists of two isoforms.
- Mictlan-D3 showed significant inhibition of cancer cell adhesion and migration, particularly reducing the adhesion of MDA-MB-231 cancer cells to extracellular matrix proteins by up to 81% and their migration by 80%.
Laminin β4 is required for the development of human peripheral sensory neurons.
bioRxiv
November 2024
Center for Molecular Medicine, University of Georgia, Athens GA, USA.
The extracellular matrix (ECM) is a mixture of glycoproteins and fibrous proteins that provide the biophysical properties necessary to maintain cellular homeostasis. ECM integrity is of particular importance during development, where it allows proper migration and cellular differentiation. Laminins are ECM heterotrimeric proteins consisting of α, β, and γ chains.
View Article and Find Full Text PDFFamilial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle.
J Vet Intern Med
November 2024
Institute of Genetics, Department of Clinical Research and Veterinary Public Health, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Background: Skeletal dysplasia encompasses a heterogeneous group of genetic disorders characterized by an abnormal development of bones, joints, and cartilage. Two Chianina half-sibling calves from consanguineous mating with congenital skeletal malformations and cardiac abnormalities were identified.
Hypothesis/objectives: To characterize the disease phenotype, to evaluate its genetic cause, and to determine the prevalence of the deleterious alleles in the Chianina population.
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