Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0028738 (
nystagmus
)
7,431
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
FRMD7
mutations are associated with X-linked idiopathic congenital
nystagmus
(ICN); however, the underlying mechanisms whereby mutations of
FRMD7
lead to ICN remain unclear. In a previous study, the first
FRMD7
splice variant (
FRMD7-S
) was cloned and identified, and
FRMD7-S
was hypothesized to play a significant role in neuronal differentiation and development. The present study investigated a novel multiple exon-skipping mRNA splice variant of
FRMD7
, termed
FRMD7
_
SV2
, which was detected in NT2 cells using northern blotting. The mRNA expression levels of
FRMD7
_
SV2
in the developing human fetal brain were examined using reverse transcription polymerase chain reaction (PCR), while the expression levels in NT2 cells treated with retinoid acid (RA) or
bone morphogenetic protein
-2 were investigated using quantitative PCR. The results revealed that the expression of
FRMD7
_
SV2
was spatially and temporally restricted in human fetal brain development, and was upregulated upon RA-induced neuronal differentiation of the NT2 cells. These results indicated that as a novel splice variant of
FRMD7
,
FRMD7
_
SV2
may play a role in neuronal development.
...
PMID:Expression of a novel splice variant of
FRMD7
in developing human fetal brains that is upregulated upon the differentiation of NT2 cells. 2518 10
