Chromosome assignment of genes encoding the? and? subunits of glycoprotein hormones in man and mouse

1983 ◽  
Vol 9 (6) ◽  
pp. 757-770 ◽  
Author(s):  
Susan L. Naylor ◽  
William W. Chin ◽  
Howard M. Goodman ◽  
Peter A. Lalley ◽  
Karl-Heinz Grzeschik ◽  
...  
Keyword(s):  
Glycoprotein Hormones ◽  
Chromosome Assignment ◽  
Genes Encoding

DNA methylation in satellite repeats disorders

2019 ◽  
Vol 63 (6) ◽  
pp. 757-771 ◽  
Author(s):  
Claire Francastel ◽  
Frédérique Magdinier
Keyword(s):  
Dna Methylation ◽  
Human Genome ◽  
Repetitive Dna ◽  
Dna Sequences ◽  
Satellite Repeats ◽  
Tremendous Progress ◽  
Genes Encoding ◽  
Dna Elements ◽  
Near Future

Abstract Despite the tremendous progress made in recent years in assembling the human genome, tandemly repeated DNA elements remain poorly characterized. These sequences account for the vast majority of methylated sites in the human genome and their methylated state is necessary for this repetitive DNA to function properly and to maintain genome integrity. Furthermore, recent advances highlight the emerging role of these sequences in regulating the functions of the human genome and its variability during evolution, among individuals, or in disease susceptibility. In addition, a number of inherited rare diseases are directly linked to the alteration of some of these repetitive DNA sequences, either through changes in the organization or size of the tandem repeat arrays or through mutations in genes encoding chromatin modifiers involved in the epigenetic regulation of these elements. Although largely overlooked so far in the functional annotation of the human genome, satellite elements play key roles in its architectural and topological organization. This includes functions as boundary elements delimitating functional domains or assembly of repressive nuclear compartments, with local or distal impact on gene expression. Thus, the consideration of satellite repeats organization and their associated epigenetic landmarks, including DNA methylation (DNAme), will become unavoidable in the near future to fully decipher human phenotypes and associated diseases.

Polymorphisms within genes encoding co-stimulatory molecules modulate the susceptibility to Graves' disease and orbitopathy

2014 ◽  
Author(s):  
Jacek Daroszewski ◽  
Edyta Pawlak-Adamska ◽  
Janusz Przemyslaw ◽  
Irena Frydecka ◽  
Lidia Karabon ◽  
...  
Keyword(s):  
Graves Disease ◽  
Genes Encoding

Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese

Diabetes ◽  
1996 ◽  
Vol 45 (2) ◽  
pp. 267-269 ◽  
Author(s):  
N. Iwasaki ◽  
M. Kawamura ◽  
K. Yamagata ◽  
N. J. Cox ◽  
S. Karibe ◽  
...  
Keyword(s):  
Beta Cell ◽  
Microsatellite Markers ◽  
K Channel ◽  
Linkage Studies ◽  
Human Genes ◽  
Genes Encoding

Isolation and characterization of the genes encoding antimicrobial neutrophil cationic peptides, defensins.

Ensho ◽  
1995 ◽  
Vol 15 (1) ◽  
pp. 33-41
Author(s):  
Isao Nagaoka ◽  
Noriko Ishihara ◽  
Akimasa Someya ◽  
Kazuhisa Iwabuchi ◽  
Shin Yomogida ◽  
...  
Keyword(s):  
Cationic Peptides ◽  
Isolation And Characterization ◽  
Genes Encoding
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