Cytogenetics and cell genetics最新文献_第10页

Assignment of the human PHLDA1 gene to chromosome 12q15 by radiation hybrid mapping. 人类PHLDA1基因在12q15染色体上的定位

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015575

M D Kuske, J P Johnson

{"title":"Assignment of the human PHLDA1 gene to chromosome 12q15 by radiation hybrid mapping.","authors":"M D Kuske, J P Johnson","doi":"10.1159/000015575","DOIUrl":"https://doi.org/10.1159/000015575","url":null,"abstract":"Many complications after renal transplantation can be prevented if they are detected early. Guidelines have been developed for the prevention of diseases in the general population, but there are no comprehensive guidelines for the prevention of diseases and complications after renal transplantation. Therefore, the Clinical Practice Guidelines Committee of the American Society of Transplantation developed these guidelines to help physicians and other health care workers provide optimal care for renal transplant recipients. The guidelines are also intended to indirectly help patients receive the access to care that they need to ensure long-term allograft survival, by attempting to systematically define what that care encompasses. The guidelines are applicable to all adult and pediatric renal transplant recipients, and they cover the outpatient screening for and prevention of diseases and complications that commonly occur after renal transplantation. They do not cover the diagnosis and treatment of diseases and complications after they become manifest, and they do not cover the pretransplant evaluation of renal transplant candidates. The guidelines are comprehensive, but they do not pretend to cover every aspect of care. As much as possible, the guidelines are evidence-based, and each recommendation has been given a subjective grade to indicate the strength of evidence that supports the recommendation. It is hoped that these guidelines will provide a framework for additional discussion and research that will improve the care of renal transplant recipients.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015575","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21735835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 220

Assignment of human xylosylprotein beta-1,4-galactosyltransferase gene (B4GALT7) to human chromosome 5q35.2-->q35.3 by in situ hybridization. 人木糖蛋白-1,4-半乳糖转移酶基因(B4GALT7)在人染色体5q35.2- >q35.3上的原位杂交

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015578

A Kuroiwa, Y Matsuda, T Okajima, K Furukawa

引用次数: 2

Fine mapping of the human preprocortistatin gene (CORT) to neuroblastoma consensus deletion region 1p36.3-->p36.2, but absence of mutations in primary tumors. 人类促肾上腺素抑制素前基因(CORT)在神经母细胞瘤一致缺失区1p36.3- >p36.2的精细定位，但在原发性肿瘤中没有突变。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015566

K Ejeskär, F Abel, R Sjöberg, J Bäckström, P Kogner, T Martinsson

{"title":"Fine mapping of the human preprocortistatin gene (CORT) to neuroblastoma consensus deletion region 1p36.3-->p36.2, but absence of mutations in primary tumors.","authors":"K Ejeskär, F Abel, R Sjöberg, J Bäckström, P Kogner, T Martinsson","doi":"10.1159/000015566","DOIUrl":"https://doi.org/10.1159/000015566","url":null,"abstract":"The processed product of the human gene preprocortistatin, the peptide cortistatin-17 (hCST-17), bears a strong structural resemblance to the peptide somatostatin (SST), which has an identical receptor binding domain. CST has affinity to all known SST receptor (SSTR) subtypes. Expression of both SST and its receptors has been shown in previous studies to have biological and clinical significance in neuroblastomas, with a putative role in tumor differentiation and apoptosis in vivo. In this work we have employed radiation hybrid mapping and BAC physical mapping to map the human preprocortistatin gene (CORT) to chromosome region 1p36.3-->p36.2, close to the genetic marker D1S244. D1S244 defines the centromeric border of the smallest region of overlap of deletion in our primary neuroblastoma material. We have also defined the genomic sequence of the gene by BAC sequencing and found that preprocortistatin consists of two exons divided by a 1-kb intron. Two polymorphic sites, neither of which causes amino acid exchange, have been detected in the coding region of the gene. Expression studies showed that preprocortistatin is expressed in neuroblastomas of all different stages, as well as in ganglioneuromas. Through genomic sequencing we made mutation analyses of exonic sequences in 49 primary neuroblastomas of all different stages, but no mutations could be detected.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015566","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21737095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 33

Sex-specific expression of an evolutionarily conserved male regulatory gene, DMRT1, in birds. 一个进化保守的雄性调控基因DMRT1在鸟类中的性别特异性表达。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015626

Z Shan, I Nanda, Y Wang, M Schmid, A Vortkamp, T Haaf

引用次数: 102

Cloning and characterisation of ITGAV, the genomic sequence for human cell adhesion protein (vitronectin) receptor alpha subunit, CD51. 人细胞粘附蛋白(玻璃体粘连蛋白)受体α亚基CD51基因组序列的克隆与鉴定。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015631

M A Sims, S D Field, M R Barnes, N Shaikh, K Ellington, K E Murphy, N Spurr, D A Campbell

引用次数: 18

Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping. 辐射杂交定位人类GABAA受体δ亚基基因(GABRD)在NIB1364远端染色体1p36.3带的定位

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015636

W Emberger, C Windpassinger, E Petek, P M Kroisel, K Wagner

{"title":"Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping.","authors":"W Emberger, C Windpassinger, E Petek, P M Kroisel, K Wagner","doi":"10.1159/000015636","DOIUrl":"https://doi.org/10.1159/000015636","url":null,"abstract":"The gamma-aminobutyric acid type A (GABAA; Kuriyama et al., 1993) receptor represents a mechanism integral in functioning of the central nervous system and a locus for the action of many moodand emotion-altering agents such as benzodiazepines, barbiturates, steroids, and alcohol. Anxiety syndromes, sleep disorders, and convulsive disorders have been treated with therapeutic agents that enhance the action of gamma-aminobutyric acid (GABA) at the GABAA receptor or increase the concentration of GABA in nervous tissue (Rabow et al., 1995). GABAA receptors are heterooligomeric ligandgated ion channels that mediate the effect of the inhibitory neurotransmitter GABA which represents the main means of synaptic inhibition in neuronal tissue. The GABAA receptors consist of at least 15 different receptor subunits that can be classified into five subfamilies (alpha, beta, gamma, delta, rho). Sommer et al. isolated and characterized the murine gene for the GABAA receptor delta subunit (GABRD) by high-resolution mapping and DNA sequencing and they localized the human delta subunit gene to the short arm of chromosome 1. Materials and methods","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015636","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21800150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 16

Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1. 小鼠SALL1同源基因SALL1的克隆、染色体定位及表达。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015598

A Buck, L Archangelo, C Dixkens, J Kohlhase

引用次数: 42

Assignment of B-cell lymphoma 6, member B (zinc finger protein) gene (BCL6B) to human chromosome 17p13.1 by in situ hybridization. B细胞淋巴瘤6，成员B(锌指蛋白)基因(BCL6B)在人染色体17p13.1上的原位杂交。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015617

J Fitzgibbon, M J Neat, L Jones, N Foot, T A Lister, R K Gupta

引用次数: 5

The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly. 作为前脑畸形候选基因的DKK1头部诱导基因的基因组结构、染色体定位和分析。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015618

E Roessler, Y Du, A Glinka, A Dutra, C Niehrs, M Muenke

引用次数: 29

Cloning and chromosomal mapping of the mouse and human genes encoding the orphan glucocorticoid-induced receptor (GPR83). 编码孤儿糖皮质激素诱导受体(GPR83)的小鼠和人类基因的克隆和染色体定位。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015650

L De Moerlooze, J Williamson, F Liners, J Perret, M Parmentier

{"title":"Cloning and chromosomal mapping of the mouse and human genes encoding the orphan glucocorticoid-induced receptor (GPR83).","authors":"L De Moerlooze, J Williamson, F Liners, J Perret, M Parmentier","doi":"10.1159/000015650","DOIUrl":"https://doi.org/10.1159/000015650","url":null,"abstract":"The mouse glucocorticoid-induced receptor (GIR) is an orphan G protein-coupled receptor highly expressed in brain and thymus (Harrigan et al., 1989; 1991). We have cloned the mouse GIR gene (Gpr83), determined its genomic organization and compared it with the human gene. The genomic organization of the gene is similar in both species although differences leading to specific splicing variants in the mouse have been found. Three introns interrupting the coding sequence are common to both mouse and human. A short sequence in the second intron of the mouse gene can be alternatively spliced in, leading to an insertion in the second intracellular loop of the receptor. This insertion constitutes an additional exon which is not present in the human genome. The human GIR polypeptide shares 89.5% and 91.5% identity with its mouse and dog orthologs respectively. Splice variants lacking the first extracellular loop and the third transmembrane domain have been found in human and mouse species. The receptor variants resulting from these minor transcripts are likely to be non functional. Comparative genetic mapping of the Gpr83 gene showed that it maps to regions of conserved synteny on mouse chromosome 9 (A2-3 region) and human chromosome 11 (q21 region).","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015650","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21886956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 22