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71.
Concepción Núñez Diana Alecsandru Jezabel Varadé Isabel Polanco Carlos Maluenda Miguel Fernández-Arquero Emilio G de la Concha Elena Urcelay Alfonso Martínez 《BMC medical genetics》2006,7(1):32-5
Background
Celiac disease (CD) is a chronic disorder characterized by a pathological inflammatory response after exposure to gluten in genetically susceptible individuals. The HLA complex accounts for less than half of the genetic component of the disease, and additional genes must be implicated. Interleukin-10 (IL-10) is an important regulator of mucosal immunity, and several reports have described alterations of IL-10 levels in celiac patients. The IL-10 gene is located on chromosome 1, and its promoter carries several single nucleotide polymorphisms (SNPs) and microsatellites which have been associated to production levels. Our aim was to study the role of those polymorphisms in susceptibility to CD in our population. 相似文献72.
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75.
Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells 总被引:7,自引:0,他引:7
Qian Q Hunter LW Li M Marin-Padilla M Prakash YS Somlo S Harris PC Torres VE Sieck GC 《Human molecular genetics》2003,12(15):1875-1880
Autosomal-dominant polycystic kidney disease is a multiorgan disease and its vascular manifestations are common and life-threatening. Despite this, little is known about their pathogenesis. Somatic mutations to the normal PKD allele in cystic epithelia and cyst development associated with the unstable Pkd2(WS25) allele suggest a two-hit model of cystogenesis. However, it is unclear if this model can account for the cardiovascular pathology or if haploinsufficiency alone is disease-associated. In the present study, we found a decreased polycystin-2 (PC2, protein encoded by Pkd2 gene) expression in Pkd2( +/-) vessels, roughly half the wild-type level, and an enhanced level of intracranial vascular abnormalities in Pkd2 (+/-) mice when induced to develop hypertension. Consistent with these observations, freshly dissociated Pkd2 (+/-) vascular smooth muscle cells have significantly altered intracellular Ca(2+) homeostasis. The resting [Ca(2+)](i) is 17.1% lower in Pkd2 (+/-) compared with wild-type cells (P=0.0003) and the total sarcoplasmic reticulum Ca(2+) store (emptied by caffeine plus thapsigargin) is decreased (P<0.0001). The store operated Ca(2+) (SOC) channel activity is also decreased in Pkd2 (+/-) cells (P=0.008). These results indicate that inactivation of just one Pkd2 allele is sufficient to significantly alter intracellular Ca(2+) homeostasis, and that PC2 is necessary to maintain normal SOC activity and the SR Ca(2+) store in VSMCs. Based on these findings, and the fact that [Ca(2+)](i) signaling is essential to the regulation of contraction, production and secretion of extracellular matrix, cellular proliferation and apoptosis, we propose that the abnormal intracellular Ca(2+) regulation associated with Pkd2 haploinsufficiency is directly related to the vascular phenotype. 相似文献
76.
Reza-Albarran AA Gomez-Perez FJ Lopez JC Herrera M Gamboa-Dominguez A Keirns C Aranda A Rull JA 《Endocrine pathology》1999,10(3):251-257
Pigmented nodular cortical hyperplasia, a rare cause of Cushing’s syndrome, is characterized by resistance to inhibition with
dexamethasone and normal sized adrenal glands with multiple, small pigmented nodules. The disorder may be a component of a
syndrome inherited as an autosomal dominant pattern that includes intra- and extracardiac myxomas, lentiginous lesions, blue
nevi, other functional endocrine tumors, and peripheral nerve tumors (Carney’s complex).
We report a patient in whom bilateral myelolipomas were found, in addition to the usual features of this complex. A 29-yr-old
man was admitted to the hospital for Cushing’s syndrome of probably more than 15 yr duration. Physical examination showed
diffuse facial hyperchromatic macules, 0.2–0.5 cm, predominantly around the lips and on the palmar surfaces of the fingers.
Results with dexamethasone suppression nocturnal testing (1 and 8 mg) were compatible with an adrenal adenoma. The computed
tomography (CT) of the sella turcica was normal. Adrenal CT showed a tumor in the left gland with a double component: one
solid and another suggestive of fat, consistent with an angiomyelolipoma. Following 5 wk treatment with ketoconazole, 800
mg per day po, serum cortisol decreased to 5.9 μg/dL, morning and evening, respectively.
Bilateral adrenalectomy was performed. Pathologic examination revealed pigmented nodular cortical hypersplasia and a dominant
myelolipoma in the left adrenal. A microscopic myelolipoma was identified in the right adrenal.
An echocardiogram showed a mass on the posterior wall of the left ventricle which was a myxoma. Study of the patient's family
disclosed two sisters with facial lentigines. Echocardiograms were performed on all available first degree relatives: all
were normal. Nocturnal inhibition with dexamethasone revealed that one of the patient’s sisters with lentigines also had hypercortisolism.
Myelolipoma has been reported in association to Cushing syndrome in humans and experimentally after pituitary extracts in
animals. The relationship between this finding and the Carney’s complex remain elusive. 相似文献
77.
Diestra JE Scheffer GL Català I Maliepaard M Schellens JH Scheper RJ Germà-Lluch JR Izquierdo MA 《The Journal of pathology》2002,196(2):213-219
The expression and cellular localization of angiotensin II (Ang II) and AT(1) receptor proteins were examined in the normal human prostate and benign prostatic hyperplasia (BPH) by immunohistochemistry. In the normal prostate, Ang II immunoreactivity was localized to the basal layer of the epithelium and AT(1) receptor immunostaining was found predominantly on stromal smooth muscle and also on vascular smooth muscle of prostatic blood vessels. Ang II immunoreactivity was markedly increased in hyperplastic acini in BPH compared with acini in the normal prostate (normal: 7.4+/-0.2%, n=5 vs. BPH: 22.7+/-1.9%, n=5, p<0.001). However, AT(1) receptor immunoreactivity was significantly decreased in BPH compared with the normal prostate [normal: 16.4+/-2.2%, n=4 vs. BPH: 9.4+/-1.3%, n=5, p<0.05 (p=0.025)]. The present study demonstrates the presence of Ang II peptide in the basal layer of the epithelium and AT(1) receptors on stromal smooth muscle, suggesting that Ang II may mediate paracrine functions on cellular growth and smooth muscle tone in the human prostate. Furthermore, AT(1) receptor down-regulation in BPH may be due to receptor hyperstimulation by increased local levels of Ang II in BPH. These data extend previous findings in support of the novel concept that overactivity of the renin-angiotensin system (RAS) may be involved in the pathophysiology of BPH. 相似文献
78.
HLA allele and haplotype frequencies in Algerians : Relatedness to Spaniards and Basques 总被引:9,自引:0,他引:9
Antonio Arnaiz-Villena Djamal Benmamar Miguel Alvarez Nieves Diaz-Campos Pilar Varela Eduardo Gomez-Casado Jorge Martinez-Laso 《Human immunology》1995,43(4):259-268
The powerful genetic polymorphism of the HLA system has been used to identify individuals and populations. Ethnic groups may be characterized by specific HLA allele frequencies and particular extended HLA haplotypes; also, genetic relationships among these groups may be deduced. In the present study, serology and DNA typing were used to detect HLA-A, -B, -C, -DR, and -DQ alleles in each individual and to calculae characteristic haplotypes in Algerians. These results were compared to those previously obtained in other populations, particularly northern Mediterraneans; genetic distances and their respective dendrograms place Basques and Spaniards closer to Algerians than to other Europeans. Also, characteristic Basque and/or Spanish haplotypes are found in Algerians; i.e., A30-B18-Cw3-DR3-DQ2 and Al-B57-Ctv7-DR7-DQ2. This supports the evidence that the Algerian population, mainly its paleo-North African component (Berbers), has a common descent with Basques and Spaniards, probably reflecting a preneolithic relationship between Iberians and paleo-North Africans. 相似文献
79.
Miguel Urioste María Luisa Martínez-Frías Eva Bermejo Nicols Jimnez Dolores Romero Carmen Nieto Amelia Villa 《American journal of medical genetics. Part A》1994,49(1):94-97
We report on a newborn infant with clinical and radiological manifestations of some type of short rib-polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib-polydactyly syndromes, or else be related to the mechanism of short rib-polydactyly syndromes. © 1994 Wiley-Liss, Inc. 相似文献
80.
The sequence is presented of RNA-5 of Echinochloa hoja blanca tenuivirus, a second tenuivirus associated with rice cultivation in Latin America (after rice hoja blanca virus). The RNA is 1334 nucleotides long and contains in the complementary sense RNA a single long open reading frame. The deduced amino acid sequence of this open reading frame shows that it encodes a highly basic and hydrophilic 44 kD protein (pc5) with about 50% similarity to the pc5 protein of maize stripe virus (MStV). This and other features of the RNA are discussed.The GenBank accession number of the sequence reported in this paper is L47430. 相似文献