[HTML][HTML] Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies
KI Gawlik, M Durbeej - Skeletal muscle, 2011 - Springer
Laminin-211 is a cell-adhesion molecule that is strongly expressed in the basement
membrane of skeletal muscle. By binding to the cell surface receptors dystroglycan and …
membrane of skeletal muscle. By binding to the cell surface receptors dystroglycan and …
[HTML][HTML] Usher syndrome: genetics and molecular links of hearing loss and directions for therapy
M Whatley, A Francis, ZY Ng, XE Khoh, MD Atlas… - Frontiers in …, 2020 - frontiersin.org
Usher syndrome (USH) is an autosomal recessive (AR) disorder that permanently and
severely affects the senses of hearing, vision, and balance. Three clinically distinct types of …
severely affects the senses of hearing, vision, and balance. Three clinically distinct types of …
Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
Sensorineural hearing loss is genetically heterogeneous. Here, we report that mutations in
CIB2, which encodes a calcium-and integrin-binding protein, are associated with …
CIB2, which encodes a calcium-and integrin-binding protein, are associated with …
[HTML][HTML] Loss of CIB2 causes profound hearing loss and abolishes mechanoelectrical transduction in mice
Calcium and integrin-binding protein 2 (CIB2) belongs to a protein family with four known
members, CIB1 through CIB4, which are characterized by multiple calcium-binding EF-hand …
members, CIB1 through CIB4, which are characterized by multiple calcium-binding EF-hand …
[HTML][HTML] Molecular analysis of CIB4 gene and protein in Kermani sheep
MR Mohammadabadi, AHD Jafari… - Brazilian Journal of …, 2017 - SciELO Brasil
The human calcium-and integrin-binding protein (CIB) family is composed of CIB1, CIB2,
CIB3, and CIB4 proteins and the CIB 4 gene affects fertility. Kermani sheep is one of the …
CIB3, and CIB4 proteins and the CIB 4 gene affects fertility. Kermani sheep is one of the …
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival
Defects of CIB 2, calcium‐and integrin‐binding protein 2, have been reported to cause
isolated deafness, DFNB 48 and Usher syndrome type‐IJ, characterized by congenital …
isolated deafness, DFNB 48 and Usher syndrome type‐IJ, characterized by congenital …
Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy
Q Nguyen, KRQ Lim, T Yokota - The application of clinical genetics, 2019 - Taylor & Francis
Congenital muscular dystrophy (CMD) is a class of severe early-onset muscular dystrophies
affecting skeletal/cardiac muscles as well as the central nervous system (CNS). Laminin-α2 …
affecting skeletal/cardiac muscles as well as the central nervous system (CNS). Laminin-α2 …
CIB1 is a regulator of pathological cardiac hypertrophy
Hypertrophic heart disease is a leading health problem in Western countries. Here we
identified the small EF hand domain–containing protein Ca2+ and integrin–binding protein …
identified the small EF hand domain–containing protein Ca2+ and integrin–binding protein …
Laminin-α2 chain-deficient congenital muscular dystrophy: pathophysiology and development of treatment
M Durbeej - Current topics in membranes, 2015 - Elsevier
Laminin-211 is a major constituent of the skeletal muscle basement membrane. It stabilizes
skeletal muscle and influences signal transduction events from the myomatrix to the muscle …
skeletal muscle and influences signal transduction events from the myomatrix to the muscle …
[HTML][HTML] A comprehensive transcriptome analysis of skeletal muscles in two Polish pig breeds differing in fat and meat quality traits
Pork is the most popular meat in the world. Unfortunately, the selection pressure focused on
high meat content led to a reduction in pork quality. The present study used RNA-seq …
high meat content led to a reduction in pork quality. The present study used RNA-seq …