Rogelio González Sarmiento

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Cloning and molecular characterization of an homologous gene to proenkephalin in a teleost, the zebrafish Danio rerio is presented in this paper. The new zebrafish proenkephalin (zfPENK) encodes a 249 amino acid polypeptide that displays an identity of 40% to mammalian PENKs and which contains the consensus sequences for four Met-enkephalins, one(More)
Paget disease of bone (PDB) is a focal bone disorder affecting the skeleton segmentally. The main alteration resides in osteoclasts that increase in size, number and activity. Many osteoclasts have cytoplasmic inclusions that have been associated with protein aggregates, increasing the evidences of a possible deregulation of autophagy in the development of(More)
A cDNA that encodes a kappa opioid receptor like from zebrafish (ZFOR3) has been cloned and characterized. The encoded protein is 377 residues long and presents 70% identity with the mammalian kappa receptors, although less homology is found in the amino- and carboxyl-terminus as well as in the extracellular loops. In situ hybridization studies have(More)
Some individuals with Down syndrome develop an Alzheimer-type dementia in the third and fourth decades of life. Dementia in Alzheimer disease has been associated with the presence of genotype epsilon 4/epsilon 4 in apolipoprotein E (apo E). By means of molecular analysis techniques genotypes in lipoprotein apo E were identified in 21 patients with Down(More)
Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones, and eyes. CDPX2 patients display skin defects, including ichthyotic lesions, follicular atrophoderma, cicatricial alopecia, and less frequently ichthyosiform erythroderma, cataracts, and(More)
Paragangliomas and pheochromocytomas are neuroendocrine tumors arising in the extraadrenal and adrenal medulla, respectively. These tumors appear in certain familial syndromes, such as multiple endocrine neoplasia types 1 and 2, Von Hippel Lindau disease, neurofibromatosis type 1 and familial paraganglioma syndromes. The latter syndromes show a strong(More)
OBJECTIVES To examine the relationship between polymorphisms of the epidermal growth factor receptor (EGFR) pathway and toxicity in head and neck squamous cell carcinoma (HNSCC) patients treated with cetuximab. MATERIAL AND METHODS Multicenter, retrospective, observational pilot study which included 110 patients with histologically-confirmed human(More)
In some cases of lamellar ichthyosis, mutations in the epidermal transglutaminase gene and a reduction in the thickness of the cornified envelope have been documented. Involucrin is a major component of the cornified envelope and a substrate for epidermal transglutaminase. The aim of the present work was to analyse the expression of involucrin in lamellar(More)