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We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 19 laboratories in France. We have analyzed 7, 420 CF alleles, demonstrating a total of 310 different mutations including 24 not reported previously, accounting for 93.56% of CF genes. The most common were F508del (67.18%; range 61-80), G542X (2.86%; range 1-6.7%), N1303K(More)
Aromatase activity has been measured in Leydig cells and Sertoli cells from both immature and mature rats. Cytochrome P450 aromatase (P450arom) has been immunolocalized in germ cells of the rodent, bear, and rooster. Our purpose was to investigate expression of and to immunolocalize P450arom in adult rat testicular cells. After Western blotting with a(More)
Expression of cytochrome P450 mRNA in rat germ cells was characterized by reverse transcription PCR with various primers located at the 3'-end of the coding region. At least two unusual isoforms (Ex10-S and INT) of P450 aromatase (P450arom) mRNA were expressed. Analysis of their sequences demonstrated that an alternative splicing event occurred first at the(More)
BACKGROUND Patients with pseudohypoparathyroidism type Ib (PHP-1b) develop resistance toward PTH, leading to hypocalcemia and hyperphosphatemia. PHP-1b is an imprinted human disorder associated with methylation changes at one or several differentially methylated regions at the GNAS locus. This complex locus gives rise to several different transcripts with(More)
BACKGROUND The bone morphogenetic proteins (BMPs) are growth factors involved in the folliculogenesis. Alteration in their expression may compromise the reproductive process in disease such as the polycystic ovary syndrome (PCOS). This study investigated the expression and role of granulosa cell (GC) BMP from normal cycling and PCOS women. METHODS AND(More)
The sequencing of aromatase cDNA from rabbit granulosa cells was obtained by RACE PCR. This cDNA is 2.9 kb long. The first 119 nucleotides correspond to the first untranslated exon. Nucleotides 120 to 1,629 correspond to the coding region (1,509 nucleotides) and the rest of the sequence is non coding and contains a polyadenylation signal. Translation of the(More)
To elucidate the molecular profile of oestrogen receptors alpha and beta (ERalpha, ERbeta) we studied ERalpha and ERbeta expression at the mRNA and protein levels using real-time polymerase chain reaction (RT-PCR), Western blot analysis and immunohistochemical (IHC) methods in 41 primary breast cancers and surrounding tissues. ERalpha mRNA and ERbeta mRNA(More)
Aromatase is a steroidogenic enzyme complex which catalyses the conversion of androgens to estrogens. In a previous study, we elucidated the structure of a 2.9 kb aromatase cDNA from ovarian rabbit tissue. We report here, the structure of another shorter aromatase cDNA (1.5 kb) from the same tissue. This cDNA is likely to encode for a nonfunctional(More)
A fluorescent estradiol macromolecular complex was used to study and to characterize steroid binding to membranes of living target cells. Ligand binding to plasma membranes was quantitated with a sensitivity of 0.1 nM. In this way, we found two types of estradiol-binding sites on hormone sensitive MCF-7 cells. Type A sites (8000-16000 sites per cell) were(More)
To assess the practical usefulness of array-comparative genomic hybridization (a-CGH) when supernumerary marker chromosomes (SMCs) are detected during prenatal diagnosis, we retrospectively studied SMC management in our laboratory before a-CGH availability. In this 11-year study, SMCs were observed in 20/16,810 routine karyotypes (0.12%). Their chromosomal(More)