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B Mercier

Publications and source records attributed to B Mercier.

132 records · Page 8Linked to original sources
PubMed1984

Microtubules in the cochlea of the hypothyroid developing rat.

In order to study the effects of hypothyroidism on the development of microtubules in the cochlea, rat pups were rendered hypothyroid by daily administration of propylthiouracil. Microtubules were studied by immunofluorescence and electron microscopy. The absence of immunostaining of pillar cells with antimicrotubule or antitubulin antibodies was correlated with a retarded morphological development of microtubules within these same structures. The above alterations induced an abnormal development of pillar cells, non-appearance of the tunnel of Corti, and stunted epithelial growth. In contrast, a distinct immunoreaction was observed under the outer hair cells. This was attributed to abnormal persistence of afferent dendrites containing microtubules. The results suggest that, while the effect of thyroid hormone on microtubules in afferent cochlear dendrites could not be demonstrated, thyroid hormone is necessary for the normal development of microtubules in epithelial structures.

Animals↗
PubMedDate not supplied

Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.

An analysis of 274 non-delta F508 Italian cystic fibrosis chromosomes was carried out to determine their molecular defect. In a first step, the delta F508 and 59 other mutations were detected by polyacrylamide gel electrophoresis, restriction digestion, and the amplification refractory mutation system (ARMS) technique. The molecular defects of the other chromosomes were screened for by denaturing gradient gel electrophoresis analysis of exons 3, 4, 7, 11, 12, 13, 14a, 17b, 19 and 20. Direct sequencing was carried out if necessary. This approach allowed us to identify 3 novel mutations, namely M348K, D614G and F693L.

Cystic Fibrosis↗
PubMedDate not supplied

Prenatal diagnosis of cystic fibrosis in different European populations: application of denaturing gradient gel electrophoresis.

The cystic fibrosis transmembrane regulator gene, one of the most commonly mutated in the European population, was cloned in 1989 and since then has been extensively analysed in patients of various ethnic backgrounds. We have screened the entire coding sequences of the cystic fibrosis transmembrane regulator gene and identified many mutations and polymorphisms. In this paper we propose a general strategy to improve prenatal diagnosis and genetic counselling of cystic fibrosis (CF). As this approach based on denaturing gradient gel electrophoresis is adaptable to different populations, it greatly increases the sensibility and specificity of CF prenatal diagnosis.

Chorionic Villi Sampling↗