Genomic imprinting: parental influence on the genome

W Reik, J Walter - Nature Reviews Genetics, 2001 - nature.com
Genomic imprinting affects several dozen mammalian genes and results in the expression of
those genes from only one of the two parental chromosomes. This is brought about by …

KCNQ potassium channels: physiology, pathophysiology, and pharmacology

J Robbins - Pharmacology & therapeutics, 2001 - Elsevier
KCNQ genes encode a growing family of six transmembrane domains, single pore-loop, K+
channel α-subunits that have a wide range of physiological correlates. KCNQ1 (KvLTQ1) is …

Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting

LS Weinstein, S Yu, DR Warner, J Liu - Endocrine reviews, 2001 - academic.oup.com
The heterotrimeric G protein Gs couples hormone receptors (as well as other receptors) to
the effector enzyme adenylyl cyclase and is therefore required for hormone-stimulated …

DNA methylation in genomic imprinting, development, and disease

M Paulsen, AC Ferguson‐Smith - The Journal of pathology, 2001 - Wiley Online Library
Abstract Changes in DNA methylation profiles are common features of development and in a
number of human diseases, such as cancer and imprinting disorders like Beckwith …

Tumor development in the Beckwith–Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of …

R Weksberg, J Nishikawa, O Caluseriu… - Human molecular …, 2001 - academic.oup.com
Dysregulation of imprinted genes on human chromosome 11p15 has been implicated in
Beckwith–Wiedemann syndrome (BWS), an overgrowth syndrome associated with …

The Prader–Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a

SJ Chamberlain, CI Brannan - Genomics, 2001 - Elsevier
The imprinted UBE3A gene exhibits maternal-only expression in specific cell types in the
brain, but exhibits biallelic expression in other cell types. UBE3A is located adjacent to a …

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith–Wiedemann syndrome

V Gaston, Y Le Bouc, V Soupre, L Burglen… - European journal of …, 2001 - nature.com
Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder involving developmental
abnormalities, tissue and organ hyperplasia and an increased risk of embryonal tumours …

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases …

J Bliek, SM Maas, JM Ruijter… - Human molecular …, 2001 - academic.oup.com
Beckwith–Wiedemann syndrome (BWS) is an overgrowth malformation syndrome that maps
to human chromosome 11p15. 5, a region that harbours a number of imprinted genes. We …

American college of medical genetics statement on diagnostic testing for uniparental disomy

LG Shaffer, N Agan, JD Goldberg, DH Ledbetter… - Genetics in …, 2001 - nature.com
Uniparental disomy represents a departure from the usual situation in which one member of
each pair of chromosomes (called homologous chromosomes) is normally inherited from …

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 …