In mammals, the term genomic imprinting is an epigenetic phenomenon that, in some autosomal genes, gene expression depends on the parent-of-origin so that only one gene copy from the two parental alleles is preferentially active, either maternally or paternally [1]. In humans, there are approxi...
Greater knowledge of gene expression control is of major importance for human health as disruption of gene regulation has become recognised as a significant cause of human disease. Appreciation of the role of cis-regulatory polymorphism in natural variation and susceptibility to common disease is also...
In the first article, we discuss genetic variants of the G protein subunits and accessory proteins that are associated with human phenotypes; in the second article, we build upon this to discuss “G protein-coupled receptor (GPCR) gene variants and human genetic disease” and in the third ...
Nature Genet 6:310-313 Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ (1993): Modification of 15qll-ql3 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Molec Genet 2:1377-1382 Guillemot F, Caspary T, ...
Mutations of NLRP7 and C6ORF221 account for familial biparental hydatidiform mole, which is a maternal effect recessive disorder resulting from failure of maternal imprints.109,110 Mutation searches of NLRP7 were performed on the mother of a patient showing both transient neonatal diabetes mellitus ...
The two imprinted domains are controlled by imprinting control regions (ICRs) which carry opposite germ line imprints and they are regulated by two major mechanisms of imprinting control. Dysregulation of 11p15 genomic imprinting results in two fetal growth disorders [Silver–Russell (SRS) and ...
as when under dark spiritual attack, we must always act in right alignment, right action and with integrity, regardless of what others may say or think. During this ascension stage, the previous life stream’s records in the blood are being purified from accumulated karmic ancestral records; th...
Solid tumors comprise approx 95% of all malignancies, but account for only a little over 25% of cases in published cytogenetic studies. The main reasons are:...
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib Nat. Genet, 37 (1) (2005), pp. 25-27 CrossrefView in ScopusGoogle Scholar [121] G. Grigelioniene, et al. A large inversion involving GNAS exon A/B and all...
[4,5]. In particular, historical processes have left marked imprints on the genetic structure of extant marine populations. For example, the extent of genetic divergence between genomes varies among marine species and can be used to estimate the time of their separation. Marine populations ...