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 …

The comorbidity of autism with the genomic disorders of chromosome 15q11. 2-q13

A Hogart, D Wu, JM LaSalle, NC Schanen - Neurobiology of disease, 2010 - Elsevier
A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various
forms of stereotyped deletions and duplication events that cause a group of …

The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease

PA Barker, A Salehi - Journal of neuroscience research, 2002 - Wiley Online Library
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 …

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 …

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 …

Imprinted genes in the placenta–a review

PM Coan, GJ Burton, AC Ferguson-Smith - Placenta, 2005 - Elsevier
Imprinted genes are expressed monoallelically depending on their parental origin. High
expression of the majority of imprinted genes tested to date has been demonstrated in …

Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome

JM Bischof, CL Stewart, R Wevrick - Human molecular genetics, 2007 - academic.oup.com
Prader-Willi syndrome (PWS) is an imprinted genetic obesity disorder characterized by
abnormalities of growth and metabolism. Multiple mouse models with deficiency of one or …

Non‐coding RNAs in imprinted gene clusters

H Royo, J Cavaillé - Biology of the Cell, 2008 - Wiley Online Library
Imprinted ncRNA (non‐coding RNA) genes represent a family of untranslated transcripts that
are mono‐allelically expressed in a parent‐of‐origin manner (their expression is restricted to …

Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation

BV Skryabin, LV Gubar, B Seeger, J Pfeiffer… - PLoS …, 2007 - journals.plos.org
Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by
decreased fetal activity, muscular hypotonia, failure to thrive, short stature, obesity, mental …

The Human Magel2 Gene and Its Mouse Homologue Are Paternally Expressed and Mapped to the Prader-Willi Region

I Boccaccio, H Glatt-Deeley, F Watrin… - Human molecular …, 1999 - academic.oup.com
Prader-Willi syndrome (PWS) is a complex neurogenetic disorder. The phenotype is likely to
be a contiguous gene syndrome involving genes which are paternally expressed only …