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Downstream E-box-mediated regulation of the human telomerase reverse transcriptase (hTERT) gene transcription: evidence for an endogenous mechanism of transcriptional repression 总被引:26,自引:0,他引:26 下载免费PDF全文
Horikawa I Cable PL Mazur SJ Appella E Afshari CA Barrett JC 《Molecular biology of the cell》2002,13(8):2585-2597
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T. Gevaert B. Engels D. Verellen P. Deconinck M. Duchateau T. Reynders K. Tournel T. Depuydt M. Boussaer K. Poels M. De Ridder 《Physica medica : PM : an international journal devoted to the applications of physics to medicine and biology : official journal of the Italian Association of Biomedical Physics (AIFB)》2011
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T. Gevaert D. Verellen I. Van de Vondel B. Engels K. Tournel M. Duchateau T. Reynders Tom Depuydt M. Boussaer K. Poels M. De Ridder 《Physica medica : PM : an international journal devoted to the applications of physics to medicine and biology : official journal of the Italian Association of Biomedical Physics (AIFB)》2011
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Donly C Verellen L Cladman W Caveney S 《Insect biochemistry and molecular biology》2007,37(9):933-940
We have cloned two new lepidopteran octopamine transporters (OATs), members of the solute-linked carrier family 6 (SLC6) of nutrient transporters, from the CNS of the European corn borer Ostrinia nubilalis and the cabbage white Pieris rapae. Comparison of these sequences with the previously cloned OAT from the cabbage looper Trichoplusia ni showed that the T. ni OAT sequence previously reported was truncated by 74 amino acids at the N-terminus. The cytoplasmic N-termini deduced here are considerably longer than the N-termini of other monoamine transporters in the SLC6 family and contain many more high-probability serine- and threonine-phosphorylation sites. Monoamine uptake and competitive inhibition studies on baculovirus-infected Sf9 cells expressing these three cloned OATs indicate that they are able to transport tyramine, octopamine and dopamine with high affinity (K(m) and K(i) range, 0.4 microM-2.7 microM) and capacity ((3)H-dopamine uptake by TrnOAT, 2.5 pmol/well/min). We aimed to examine the role of the N-terminus of OAT by comparing the properties of the full-length T. ni OAT with those of the previously reported N-truncated version. Results for the new full-length T. ni OAT showed no difference in the protein's affinity for octopamine or dopamine, although at low levels of viral infection it did show slightly higher transport activity ((3)H-dopamine uptake by truncated TrnOAT, 1.5 pmol/well/min). Treatment of Sf9 cells expressing full-length or truncated TrnOAT with a variety of protein kinase activators and inhibitors, however, did not change transporter activity. Neither an intact N-terminus, nor apparently a particular phosphorylation state of this extended N-terminus, is required for OAT to transport monoamines. 相似文献
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Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. 总被引:9,自引:0,他引:9
A I McClatchey P Van den Bergh M A Pericak-Vance W Raskind C Verellen D McKenna-Yasek K Rao J L Haines T Bird R H Brown 《Cell》1992,68(4):769-774
Paramyotonia congenita (PMC), a dominant disorder featuring cold-induced myotonia (muscle stiffness), has recently been genetically linked to a candidate gene, the skeletal muscle sodium channel gene SCN4A. We have now established that SCN4A is the disease gene in PMC by identifying two different single-base coding sequence alterations in PMC families. Both mutations affect highly conserved residues in the III-IV cytoplasmic loop, a portion of the sodium channel thought to pivot in response to membrane depolarization, thereby blocking and inactivating the channel. Abnormal function of this cytoplasmic loop therefore appears to produce the Na+ current abnormality and the unique temperature-sensitive clinical phenotype in this disorder. 相似文献
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Chorea-acanthocytosis: genetic linkage to chromosome 9q21. 总被引:2,自引:0,他引:2
J P Rubio A Danek C Stone R Chalmers N Wood C Verellen X Ferrer A Malandrini G M Fabrizi M Manfredi J Vance M Pericak-Vance R Brown G Rudolf F Picard E Alonso M Brin A H Nmeth M Farrall A P Monaco 《American journal of human genetics》1997,61(4):899-908
Chorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurodegeneration and unusual red-cell morphology (acanthocytosis), with onset in the third to fifth decade of life. Neurological impairment with acanthocytosis (neuroacanthocytosis) also is seen in abetalipoproteinemia and X-linked McLeod syndrome. Whereas the molecular etiology of McLeod syndrome has been defined (Ho et al. 1994), that of CHAC is still unknown. In the absence of cytogenetic rearrangements, we initiated a genomewide scan for linkage in 11 families, segregating for CHAC, who are of diverse geographical origin. We report here that the disease is linked, in all families, to a 6-cM region of chromosome 9q21 that is flanked by the recombinant markers GATA89a11 and D9S1843. A maximum two-point LOD score of 7.1 (theta = .00) for D9S1867 was achieved, and the linked region has been confirmed by homozygosity-by-descent, in offspring from inbred families. These findings provide strong evidence for the involvement of a single locus for CHAC and are the first step in positional cloning of the disease gene. 相似文献
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Epidemiology of multiple congenital anomalies in Europe: A EUROCAT population‐based registry study 下载免费PDF全文
Elisa Calzolari Ingeborg Barisic Maria Loane Joan Morris Diana Wellesley Helen Dolk Marie‐Claude Addor Larraitz Arriola Fabrizio Bianchi Amanda J. Neville Judith L.S. Budd Kari Klungsoyr Babak Khoshnood Bob McDonnell Vera Nelen Annette Queisser‐Luft Judith Rankin Anke Rissmann Catherine Rounding David Tucker Christine Verellen‐Dumoulin Hermien de Walle Ester Garne 《Birth defects research. Part A, Clinical and molecular teratology》2014,100(4):270-276
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The session began with three presenters - LouAnn Benson, Walter Porter, and Lisa Dolchok - all of whom are or have been affiliated with the Circle of Healing Program at Southcentral Foundation in Anchorage, Alaska. The Southcentral Foundation is a Native Health Corporation that administers what used to be the Indian Health Service Hospital and Medical Center. In the Circle of Healing Program, the Southcentral Foundation has designed and implemented an approach to health care that allows its patients simultaneously to access Western medicine, traditional Native healing, and other alternative approaches to health care, such as acupuncture. An important figure in this effort is Dr. Robert Morgan, a psychologist who has worked with the program for several years, and who helped suggest presenters for this part of the program. Originally, Bob planned to be present in Quebec City, but family priorities meant a change in plans. Bob's absence had a silver lining, however, because in his stead he sent LouAnn Benson, one of his able colleagues, who talked about the program from the perspective of an insider. 相似文献