Genomic imprinting: parental influence on the genome
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
currently available data on RNAs, which do not have long open reading frames and act as …