DNA methylation and human disease
KD Robertson - Nature Reviews Genetics, 2005 - nature.com
DNA methylation is a crucial epigenetic modification of the genome that is involved in
regulating many cellular processes. These include embryonic development, transcription …
regulating many cellular processes. These include embryonic development, transcription …
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
RD Nicholls, JL Knepper - Annual review of genomics and …, 2001 - annualreviews.org
The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman syndromes
(PWS and AS) represents a paradigm for understanding the relationships between genome …
(PWS and AS) represents a paradigm for understanding the relationships between genome …
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
Angelman syndrome is a severe neurodevelopmental disorder caused by deletion or
mutation of the maternal allele of the ubiquitin protein ligase E3A (UBE3A),,. In neurons, the …
mutation of the maternal allele of the ubiquitin protein ligase E3A (UBE3A),,. In neurons, the …
Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
J Cavaillé, K Buiting, M Kiefmann… - Proceedings of the …, 2000 - National Acad Sciences
We have identified three C/D-box small nucleolar RNAs (snoRNAs) and one H/ACA-box
snoRNA in mouse and human. In mice, all four snoRNAs (MBII-13, MBII-52, MBII-85, and …
snoRNA in mouse and human. In mice, all four snoRNAs (MBII-13, MBII-52, MBII-85, and …
Prader-Willi syndrome: advances in genetics, pathophysiology and treatment
AP Goldstone - Trends in Endocrinology & Metabolism, 2004 - cell.com
Prader-Willi syndrome (PWS) is a complex human genetic disease that arises from lack of
expression of paternally inherited imprinted genes on chromosome 15q11-q13 …
expression of paternally inherited imprinted genes on chromosome 15q11-q13 …
The IC-SNURF–SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
M Runte, A Hüttenhofer, S Groß… - Human molecular …, 2001 - academic.oup.com
The imprinted domain on human chromosome 15 consists of two oppositely imprinted gene
clusters, which are under the coordinated control of an imprinting center (IC) at the 5′ end …
clusters, which are under the coordinated control of an imprinting center (IC) at the 5′ end …
The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease
Since the identification of the first MAGE gene in 1991, the MAGE family has expanded
dramatically, and over 25 MAGE genes have now been identified in humans. The focus of …
dramatically, and over 25 MAGE genes have now been identified in humans. The focus of …
Epigenetics and human disease
HY Zoghbi, AL Beaudet - Cold Spring Harbor …, 2016 - cshperspectives.cshlp.org
Genetic causes for human disorders are being discovered at an unprecedented pace. A
growing subclass of disease-causing mutations involves changes in the epigenome or in the …
growing subclass of disease-causing mutations involves changes in the epigenome or in the …
Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader–Willi syndrome
F Muscatelli, DN Abrous, A Massacrier… - Human molecular …, 2000 - academic.oup.com
Prader–Willi syndrome (PWS) is a complex neurogenetic disorder with considerable clinical
variability that is thought in large part to be the result of a hypothalamic defect. PWS results …
variability that is thought in large part to be the result of a hypothalamic defect. PWS results …
Physiological functions of imprinted genes
B Tycko, IM Morison - Journal of cellular physiology, 2002 - Wiley Online Library
Genomic imprinting in gametogenesis marks a subset of mammalian genes for parent‐of‐
origin‐dependent monoallelic expression in the offspring. Embryological and classical …
origin‐dependent monoallelic expression in the offspring. Embryological and classical …