45 research outputs found
Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families.
Dyslexia is a frequent neurodevelopmental
learning disorder. To date, nine susceptibility loci have
been identified, one of them being DYX9, located in Xq27.
We performed the first French SNP linkage study followed
by candidate gene investigation in dyslexia by studying 12
multiplex families (58 subjects) with at least two children
affected, according to categorical restrictive criteria for
phenotype definition. Significant results emerged on
Xq27.3 within DYX9. The maximum multipoint LOD
score reached 3,884 between rs12558359 and rs454992.
Within this region, seven candidate genes were investigated
for mutations in exonic sequences (CXORF1,
CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB),
all having a role during brain development. We further
looked for 50
UTR trinucleotide repeats in FMR1 and FMR2
genes. No mutation or polymorphism co-segregating with
dyslexia was found. This finding in French families with
Dyslexia showed significant linkage on Xq27.3 enclosing
FRAXA, and consequently confirmed the DYX9 region as
a robust susceptibility locus. We reduced the previously
described interval from 6.8 (DXS1227–DXS8091) to 4 Mb
also disclosing a higher LOD score
Molecular cloning and expression analysis of adiponectin and its receptors (AdipoR1 and AdipoR2) in the hypothalamus of the Huoyan goose during different stages of the egg-laying cycle
Activation of the LH receptor up regulates the type 2 adiponectin receptor in human granulosa cells
Expression of adiponectin, chemerin and visfatin in plasma and different tissues during a laying season in turkeys
Congenital hypothyroid goiter and amiodarone
Amiodarone is an anti-arrhythmic drug with a content of 39% iodine. No adverse effects on fetal thyroid function have previously been observed with maternal ingestion of amiodarone during pregnancy. A case of severe congenital hypothyroidism with goiter, associated with maternal ingestion of 200 mg amiodarone daily from the 13th week of pregnancy, is described here. No other environmental causes of goiter, nor a congenital organic thyroid disorder could be demonstrated.SCOPUS: ar.jinfo:eu-repo/semantics/publishe