25 research outputs found
Turner's Syndrome with Agenesis of the Corpus Callosum, Hashimoto's Thyroiditis and Horseshoe Kidney
No full textBrown tumors of primary hyperparathyroidism may be a source of extrarenal 1,25-dihydroxyvitamin D production
No full text
Observer agreement and clinical significance of chest CT reporting in patients suspected of COVID-19
No full text
Testicular atrophy induced by di(2-ethylhexyl)phthalate: changes in histology, cell specific enzyme activities and zinc concentrations in rat testis
No full textDramatic lives and relevant becomings:Toward a Deleuze- and Guatarri-inspired cartography of young women's violent conflicts
No full text
Integrated miRNA and mRNA expression profiling to identify mRNA targets of dysregulated miRNAs in non-obstructive azoospermia
No full textStructure of the X–linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome
No full textInternational audienceThe gene for the X-linked Kallmann syndrome (KAL), a developmental disorder characterized by hypogonadotropic hypogonadism and anosmia, maps to Xp22.3 and has a homologous locus, KALP, on Yq11. We show here that KAL consists of 14 exons spanning 120-200 kilobases that correlate with the distribution of domains in the predicted protein including four fibronectin type III repeats. The KALP locus reveals several large deletions and a number of small insertions, deletions and base substitutions which indicate it is a non-processed pseudogene. The sequence divergence between KAL and KALP in humans, and the chromosomal location of KAL homologous sequences in other primates, suggest that KALP and the steroid sulphatase pseudogene on Yq11 were involved in the same rearrangement event on the Y chromosome during primate evolution
