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:C1833369 (
OFC3
)
7
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Clefts of the orofacial region are among the most common facial defects and are caused by abnormal facial development during gestation. Cleft lip with or without cleft palate (CL/P) is a birth defect with a complex etiology resulting from a mixture of genetic and environmental factors. In the present study we considered myosin 14 (
MYH14
) as a candidate gene for CL/P. This gene codes for the heavy chain of non-muscle myosin IIC (NMMHC-IIC), maps in the
OFC3
region, and shares significant homology with myosin 9, a gene that our group has recently seen to be involved in CL/P. A linkage disequilibrium investigation was conducted with six single nucleotide polymorphisms in
MYH14
and a sample of 239 CL/P nonsyndromic patients and their parents. Our family-based investigation provided no evidence of association between
MYH14
and CL/P alleles. These data do not support the involvement of
MYH14
in CL/P among the Italian population.
...
PMID:Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. 1847 Dec 49
