[PDF][PDF] Genomic imprinting and physiological processes in mammals

…, RM John, GI McNamara, K Moorwood, F Muscatelli… - Cell, 2019 - cell.com
Complex multicellular organisms, such as mammals, express two complete sets of
chromosomes per nucleus, combining the genetic material of both parents. However, epigenetic …

[HTML][HTML] Ontogenesis of oxytocin pathways in the mammalian brain: late maturation and psychosocial disorders

…, B Chini, M Tauber, F Muscatelli - Frontiers in …, 2015 - frontiersin.org
… Francoise Muscatelli's group created a mouse model deficient for Magel2. These mice
showed an altered onset of suckling activity and subsequent impaired feeding leading to 50% of …

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

E Zanaria, F Muscatelli, B Bardoni, TM Strom, S Guioli… - Nature, 1994 - nature.com
X-linked adrenal hypoplasia congenita is a developmental disorder of the human adrenal
gland that results in profound hormonal deficiencies and is lethal if untreated. We have …

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

F Muscatelli, TM Strom, AP Walker, E Zanaria, D Récan… - Nature, 1994 - nature.com
… 1 Physical mapping of the AHC-HHG critical region, a, The YAC contig was mapped by
partial digestion with Sfil (F); BssHll (B); and Eagl (E). A double slash across a YAC indicates the …

[HTML][HTML] Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies

F Althammer, F Muscatelli, V Grinevich… - Translational …, 2022 - nature.com
The prosocial neuropeptide oxytocin is being developed as a potential treatment for various
neuropsychiatric disorders including autism spectrum disorder (ASD). Early studies using …

A novel putative receptor protein tyrosine kinase of the met family.

C Ronsin, F Muscatelli, MG Mattei, R Breathnach - Oncogene, 1993 - europepmc.org
By successive screenings of cDNA libraries prepared from human tumours and from human
foreskin keratinocytes, we have isolated overlapping cDNAs coding for a novel protein …

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 …

A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene

…, P Szepetowski, F Muscatelli - Human molecular …, 2010 - academic.oup.com
… rhythm, infertility and behaviour problems) in surviving mutants of our Magel2 KO model (F.
Muscatelli, personal communication). This suggests that, indeed, the phenotype might be …

ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs

…, E Basyuk, E Le Meur, E Bertrand, F Muscatelli… - The Journal of cell …, 2005 - rupress.org
Posttranscriptional, site-specific adenosine to inosine (A-to-I) base conversions, designated
as RNA editing, play significant roles in generating diversity of gene expression. However, …

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

…, P Cau, P Berta, M Lalande, F Muscatelli - Nature …, 1997 - nature.com
… A complete lack of NDN expression in PWS brain and f ibroblasts indicates that the gene is
expressed exclusively from the paternal allele in these tissues and suggests a possible role …