Genetic & epigenetic approach to human obesity

KR Rao, N Lal, NV Giridharan - Indian Journal of Medical …, 2014 - journals.lww.com
Obesity is an important clinical and public health challenge, epitomized by excess adipose
tissue accumulation resulting from an imbalance in energy intake and energy expenditure. It …

Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13

SJ Chamberlain, M Lalande - Neurobiology of disease, 2010 - Elsevier
Human chromosome 15q11–q13 is subject to regulation by genomic imprinting, an
epigenetic process by which genes are expressed in a parent-of-origin specific manner …

Histone acetylation-mediated regulation of genes in leukaemic cells

AE Chambers, S Banerjee, T Chaplin, J Dunne… - European journal of …, 2003 - Elsevier
Histone deacetylase (HDAC) and histone acetyltransferase (HAT) functions are associated
with various cancers, and the inhibition of HDAC has been found to arrest disease …

Genetics of pubertal timing

A Mancini, JC Magnotto, AP Abreu - Best Practice & Research Clinical …, 2022 - Elsevier
Puberty marks the end of childhood and is a period when individuals undergo physiological
and psychological changes to achieve sexual maturation and fertility. The onset of puberty is …

Regulatory RNAs

VA Erdmann, MZ Barciszewska, A Hochberg… - Cellular and Molecular …, 2001 - Springer
In addition to mRNA, rRNA and tRNA, which play central roles within cells, there are a
number of regulatory, non-coding RNAs (ncRNAs). Of varying lengths, ncRNAs have no …

Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation

AW Mould, Z Pang, M Pakusch, ID Tonks, M Stark… - Epigenetics & …, 2013 - Springer
Background Smchd1 is an epigenetic modifier essential for X chromosome inactivation:
female embryos lacking Smchd1 fail during midgestational development. Male mice are less …

The non-coding RNAs as riboregulators

VA Erdmann, MZ Barciszewska… - Nucleic Acids …, 2001 - academic.oup.com
The non-coding RNAs database (http://biobases. ibch. poznan. pl/ncRNA/) contains
currently available data on RNAs, which do not have long open reading frames and act as …

Unravelling the mystery of puberty

SR Ojeda, A Lomniczi - Nature Reviews Endocrinology, 2014 - nature.com
In 2013, considerable progress was made towards deciphering the molecular foundations of
puberty. Loss of transcriptional repression was identified as a core mechanism underlying …

Short interspersed transposable elements (SINEs) are excluded from imprinted regions in the human genome

JM Greally - Proceedings of the National Academy of …, 2002 - National Acad Sciences
To test whether regions undergoing genomic imprinting have unique genomic
characteristics, imprinted and nonimprinted human loci were compared for nucleotide and …

De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch

B Bielinska, SM Blaydes, K Buiting, T Yang… - Nature …, 2000 - nature.com
Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile
hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties …