Cysteine and glycine-rich protein 3 also known as cardiac LIM protein (CLP) or muscle LIM protein (MLP) is a protein that in humans is encoded by the CSRP3 gene. (wikipedia.org)
The CSRP3 gene was discovered in rat in 1994. (wikipedia.org)
Mutations in the CSRP3 gene have been detected in patients with dilated cardiomyopathy (DCM) [e.g. (wikipedia.org)
10 SNPs located in the TNNT2, TPM1, ACTN, PDLIM3 and CSRP3 genes had a significantly higher frequency in cases compared to controls. (cagh.org.uk)
Candidate genes2
This has led to the identification of a number of candidate genes which may help differentiate between elite and non-elite athletes. (evolutionisamyth.com)
These results suggest an association of HCM with TNNT2 and other candidate genes across feline breeds. (cagh.org.uk)
Mutations3
These diseases are best diagnosed by their gene mutations, because their presentations and histopathologies are not sufficiently specific. (msdmanuals.com)
In humans, HCM is typically caused by mutations in cardiac sarcomere protein genes and occasionally in non-sarcomeric genes. (cagh.org.uk)
We hypothesised that HCM in cats is associated with mutations in the same genes as in human HCM. (cagh.org.uk)
Protein2
The two primary allele frequencies in the gene that synthesizes the protein ACTN3 for certain muscle fibers are divided between two types: "R" and "X." The "R" allele is dominant, expressing about 56% of the time . (evolutionisamyth.com)
This syndrome is an autosomal recessive disorder that affects 1/8200 Finnish neonates and is caused by a mutation in the NPHS1 gene, which codes for a podocytic slit-diaphragm protein (nephrin). (msdmanuals.com)
Humans1
To investigate this, we performed targeted re-sequencing of 18 genes known to cause HCM in humans in a group of 48 cats (25 cases and 23 breed-matched controls) of 8 different breeds. (cagh.org.uk)
Influence1
Recent research has examined the influence of this gene on other performance phenotypes, including exercise adaptation, exercise recovery, and sporting injury risk. (evolutionisamyth.com)
Carry2
Human parents carry gene variants in their sex cells (called gametes), which are used to transfer genetic traits to their offspring called "alleles. (evolutionisamyth.com)
It is caused by a defect in a gene which 1:35 of us carry. (abdn.ac.uk)
Found1
Eritrean runners have been found to contain a version of the ACE-producing gene that causes better oxygen consumption suitable for endurance running. (prernalal.com)
Muscle2
At the 577th sequential position (with a single "letter" C-to-T substitution) -1 This allele confers a gene variant to offspring related to muscle development with two variations -1 This particular variant is therefore written out as ACTN3 577X. (evolutionisamyth.com)
Overexpression of MLP enhances myotube differentiation, an effect attributed to the direct association of MLP with muscle specific transcription factors such as MyoD, myogenin and MRF4 and consequently the transcriptional control of fundamental muscle-specific genes. (wikipedia.org)
Mutations4
In adult NCCM patients the main causes were single missense mutations in sarcomere genes. (nih.gov)
MYH7 was involved in 48% of the sarcomere gene mutations. (nih.gov)
These diseases are best diagnosed by their gene mutations, because their presentations and histopathologies are not sufficiently specific. (msdmanuals.com)
Mutations in the CSRP3 gene have been detected in patients with dilated cardiomyopathy (DCM) [e.g. (wikipedia.org)
Protein3
This syndrome is an autosomal recessive disorder that affects 1/8200 Finnish neonates and is caused by a mutation in the NPHS1 gene, which codes for a podocytic slit-diaphragm protein (nephrin). (msdmanuals.com)
Cysteine and glycine-rich protein 3 also known as cardiac LIM protein (CLP) or muscle LIM protein (MLP) is a protein that in humans is encoded by the CSRP3 gene. (wikipedia.org)
Our RNA interference screen for genes that prevent integrin-dependent cell spreading identifies Z band alternatively spliced PDZ-motif protein ( zasp ), encoding the only known Drosophila melanogaster Alp/Enigma PDZ-LIM domain protein. (silverchair.com)
Expression1
Data underlying the research on Identification of oxygen-independent pathways for pyridine-nucleotide and Coenzyme-A synthesis in anaerobic fungi by expression of candidate genes in yeast. (4tu.nl)