Noncoding RNA in development

PP Amaral, JS Mattick - Mammalian genome, 2008 - Springer
Non-protein-coding sequences increasingly dominate the genomes of multicellular
organisms as their complexity increases, in contrast to protein-coding genes, which remain …

Epigenetics of autism spectrum disorders

NC Schanen - Human molecular genetics, 2006 - academic.oup.com
The autism spectrum disorders (ASD) comprise a complex group of behaviorally related
disorders that are primarily genetic in origin. Involvement of epigenetic regulatory …

Eukaryotic regulatory RNAs: an answer to the 'genome complexity'conundrum

KV Prasanth, DL Spector - Genes & development, 2007 - genesdev.cshlp.org
A large portion of the eukaryotic genome is transcribed as noncoding RNAs (ncRNAs).
While once thought of primarily as “junk,” recent studies indicate that a large number of …

In-utero stress and mode of conception: impact on regulation of imprinted genes, fetal development and future health

M Argyraki, P Damdimopoulou… - Human reproduction …, 2019 - academic.oup.com
BACKGROUND Genomic imprinting is an epigenetic gene regulatory mechanism; disruption
of this process during early embryonic development can have major consequences on both …

The genetic aetiology of Silver–Russell syndrome

S Abu-Amero, D Monk, J Frost, M Preece… - Journal of medical …, 2008 - jmg.bmj.com
Silver–Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine
and/or postnatal growth restriction and typical facies. However, the clinical picture is …

[HTML][HTML] A survey of genetic and epigenetic variation affecting human gene expression

T Pastinen, R Sladek, S Gurd, B Ge… - Physiological …, 2004 - journals.physiology.org
The identification of human sequence polymorphisms that regulate gene expression is key
to understanding human genetic diseases. We report a survey of human genes that …

Frequent IGF2/H19 Domain Epigenetic Alterations and Elevated IGF2 Expression in Epithelial Ovarian Cancer

SK Murphy, Z Huang, Y Wen, MA Spillman… - Molecular cancer …, 2006 - AACR
Overexpression of the imprinted insulin-like growth factor-II (IGF2) is a prominent
characteristic of gynecologic malignancies. The purpose of this study was to determine …

[HTML][HTML] Methylation defects of imprinted genes in human testicular spermatozoa

CJ Marques, T Francisco, S Sousa, F Carvalho… - Fertility and sterility, 2010 - Elsevier
OBJECTIVE: To study the methylation imprinting marks of two oppositely imprinted genes,
H19 and MEST/PEG1, in human testicular spermatozoa from azoospermic patients with …

A new frontier for molecular medicine: noncoding RNAs

M Szymanski, MZ Barciszewska, VA Erdmann… - … et Biophysica Acta (BBA …, 2005 - Elsevier
It is now becoming evident that the variety of noncoding RNA (ncRNA) molecules play
important roles in many cellular processes and they are not just mere intermediates in …

Association of specific language impairment (SLI) to the region of 7q31

EK O'Brien, X Zhang, C Nishimura, JB Tomblin… - The American Journal of …, 2003 - cell.com
FOXP2 (forkhead box P2) was the first gene characterized in which a mutation affects
human speech and language abilities. A common developmental language disorder …