CHROMOSOMAL CHANGES IN BALKAN NEPHROPATHY

The Lancet ◽  
1971 ◽  
Vol 297 (7694) ◽  
pp. 348 ◽  
Author(s):  
I Bruckner ◽  
Ioana Motoiu
Genetics ◽  
2003 ◽  
Vol 165 (3) ◽  
pp. 1167-1181
Author(s):  
Pei-Wen Chiang ◽  
David M Kurnit

Abstract Using a sensitive RT-QPCR assay, we analyzed the regulatory effects of sex and different dosage compensation mutations in Drosophila. To validate the assay, we showed that regulation for several genes indeed varied with the number of functional copies of that gene. We then confirmed that dosage compensation occurred for most genes we examined in male and female flies. Finally, we examined the effects on regulation of several genes in the MSL pathway, presumed to be involved in sex-dependent determination of regulation. Rather than seeing global alterations of either X chromosomal or autosomal genes, regulation of genes on either the X chromosome or the autosomes could be elevated, depressed, or unaltered between sexes in unpredictable ways for the various MSL mutations. Relative dosage for a given gene between the sexes could vary at different developmental times. Autosomal genes often showed deranged regulatory levels, indicating they were in pathways perturbed by X chromosomal changes. As exemplified by the BR-C locus and its dependent Sgs genes, multiple genes in a given pathway could exhibit coordinate regulatory modulation. The variegated pattern shown for expression of both X chromosomal and autosomal loci underscores the complexity of gene expression so that the phenotype of MSL mutations does not reflect only simple perturbations of genes on the X chromosome.


2001 ◽  
Vol 124 (2) ◽  
pp. 105-111 ◽  
Author(s):  
Dennis P O'Malley ◽  
Kent E Opheim ◽  
Todd S Barry ◽  
Douglas B Chapman ◽  
Mary J Emond ◽  
...  

1964 ◽  
Vol 51 (20) ◽  
pp. 493-494 ◽  
Author(s):  
G. K. Manna ◽  
Dipankar Roy
Keyword(s):  

2012 ◽  
Vol 40 (04) ◽  
pp. 267-270 ◽  
Author(s):  
H. Escobar ◽  
I. Nolte ◽  
N. Reimann-Berg

SummaryFor human tumours there are many reports documenting the correlation between chromosome aberrations and tumour entities. Due to the complex canine karyotypic pattern (78 chromosomes), cytogenetic studies of tumours of the dog are rare. However, the reports in the literature show, that canine chromosome 13 (CFA 13) is predominantly involved in chromosomal changes. Interestingly, CFA 13 shows high homology to regions on the human chromosomes 4 (HSA 4) and 8 (HSA 8), which harbour the proto-oncogenes c-KIT and c-MYC. Both of these genes are involved in the development and progression of some human and canine tumour diseases.


PLoS ONE ◽  
2012 ◽  
Vol 7 (11) ◽  
pp. e44367 ◽  
Author(s):  
Maïté Hanot ◽  
Anthony Boivin ◽  
Céline Malésys ◽  
Michaël Beuve ◽  
Anthony Colliaux ◽  
...  

2000 ◽  
Vol 14 (1) ◽  
pp. 81-83 ◽  
Author(s):  
M.L. Voz ◽  
W.J.M. Van de Ven ◽  
K. Kas

Pleomorphic adenoma, or mixed tumor of the salivary glands, is a benign tumor originating from the major and minor salivary glands. Eighty-five percent of these tumors are found in the parotid gland, 10% in the minor (sublingual) salivary glands, and 5% in the submandibular gland. It is the most common type of salivary gland tumor, accounting for almost 50% of all neoplasms in these organs. In fact, after the first observation of recurrent loss of chromosome 22 in meningioma, this was the second type of benign tumor for which non-random chromosomal changes were reported. The rate of malignant change with the potential to metastasize has been reported to be only 2 to 3%, and only a few cases of metastasizing pleomorphic salivary gland adenomas have been described to date. The fact that these tumors arise in organs located in an ontogenetic transitional zone, a region where endoderm and ectoderm meet, might be one of the reasons for the often-problematic histopathological classification. This type of benign tumor has been cytogenetically very well-characterized, with several hundreds of tumors karyotyped. In addition to the cytogenetic subgroup with an apparently normal diploid stemline (making up approximately 30% of the cases), three major cytogenetic subgroups can be distinguished. In addition to a subgroup showing non-recurrent clonal abnormalities, another subgroup is composed of tumors with various translocations involving 12ql5. By far the largest cytogenetic subgroup, however, consists of tumors with chromosome 8 abnormalities, mainly showing translocations involving region 8ql2. The most frequently encountered aberration in this group is a t(3;8)(p21;q12).


2005 ◽  
Vol 206 (3) ◽  
pp. 305-311 ◽  
Author(s):  
Patrícia Castro ◽  
Mette Eknæs ◽  
Manuel R Teixeira ◽  
Håvard E Danielsen ◽  
Paula Soares ◽  
...  
Keyword(s):  

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