This review focuses on the research to date detailing the expression of laminin isoforms, their potential function, as well as known pathways involved in laminin signaling in metabolic tissues. (bvsalud.org)
When expression of laminin α4 and laminin α1 are simultaneously disrupted, notochord differentiation and ISVs are as severely affected as sly or gup mutants. (johnshopkins.edu)
Isoforms2
In metabolic tissues such as the pancreas, adipose, muscle, and liver, laminin isoforms are expressed in discrete temporal and spatial patterns suggesting that certain isoforms may support the development and function of particular metabolic cell types. (bvsalud.org)
This suggests that other α chains, and hence other isoforms, act redundantly to laminin 1 in posterior notochord and ISV development. (johnshopkins.edu)
Transgenic1
Moreover, live imaging of transgenic embryos expressing enhanced green fluorescent protein in forming ISVs reveals that the vascular defects in these embryos are due to an inability of ISV sprouts to migrate correctly along the intersegmental, normally laminin-rich regions. (johnshopkins.edu)
Deficiency1
Cardiac complications are especially common in patients with a mutation in FKRP and occasionally in patients with laminin-α2 deficiency. (medscape.com)
Laminins are major constituents of basement membranes and have wide ranging functions during development and in the adult. (johnshopkins.edu)
Cell1
Through interactions with cell surface receptors, laminins stimulate intracellular signaling cascades which direct specific survival and differentiation outcomes. (bvsalud.org)
Important2
The zebrafish is an important and widely used vertebrate model organism in scientific research, for example in drug development, in particular pre-clinical development. (wikipedia.org)
We previously reported that two zebrafish loci, grumpy (gup) and sleepy (sly), encode laminin β1 and γ1, which are important both for notochord differentiation and for proper intersegmental blood vessel (ISV) formation. (johnshopkins.edu)
Study2
In 2015, a study was published about zebrafishes' capacity for episodic memory. (wikipedia.org)
Congenital muscular dystrophy type 1A (MDC1A), the most common congenital muscular dystrophy in Western countries, is caused by recessive mutations in LAMA2, the gene encoding laminin alpha 2. (nih.gov)
CK levels are mildly to markedly elevated (2-150 times normal) in most patients with congenital muscular dystrophy due to abnormal glycosylation or with laminin-α2 mutations. (medscape.com)
In those with congenital muscular dystrophies due to mutations in laminin-α2 or with any other congenital muscular dystrophy due to abnormal O-glycosylation, brain MRI findings are abnormal. (medscape.com)
NCS results are normal except in some cases with mutations in laminin-α2, in which mild neuropathic changes may be seen (some with demyelinating features). (medscape.com)
Prenatal diagnosis had been performed most commonly in families with mutations in laminin-α2, in part, because this is the most common congenital muscular dystrophy. (medscape.com)
However, the combination of these 2 techniques along with rigorous controls has been highly accurate and reliable in the prenatal diagnosis of laminin-α2 mutations. (medscape.com)
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. (medscape.com)