about
Isolation of the human Xp21 glycerol kinase gene by positional cloningBMX, a novel nonreceptor tyrosine kinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadismMutations and phenotype in isolated glycerol kinase deficiencyThe Prader-Willi syndrome murine imprinting center is not involved in the spatio-temporal transcriptional regulation of the Necdin geneThe human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal regionA novel putative receptor protein tyrosine kinase of the met familyMouse 5-hydroxytryptamine5A and 5-hydroxytryptamine5B receptors define a new family of serotonin receptors: cloning, functional expression, and chromosomal localizationThe high-affinity interleukin 8 receptor gene (IL8RA) maps to the 2q33-q36 region of the human genome: cloning of a pseudogene (IL8RBP) for the low-affinity receptorStochastic loss of silencing of the imprinted Ndn/NDN allele, in a mouse model and humans with prader-willi syndrome, has functional consequences.Sensory defects in Necdin deficient mice result from a loss of sensory neurons correlated within an increase of developmental programmed cell death.Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region.Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins.Ontogenesis of oxytocin pathways in the mammalian brain: late maturation and psychosocial disordersNecdin mediates skeletal muscle regeneration by promoting myoblast survival and differentiationADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAsNRAGE, a p75NTR adaptor protein, is required for developmental apoptosis in vivo.Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus: A whisper with functional consequences.Prader-Willi syndrome as a model of human hyperphagia.The Use of Oxytocin to Improve Feeding and Social Skills in Infants With Prader-Willi Syndrome.Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn.Functional consequences of necdin nucleocytoplasmic localization.Necdin plays a role in the serotonergic modulation of the mouse respiratory network: implication for Prader-Willi syndrome.Necdin gene, respiratory disturbances and Prader-Willi syndrome.Necdin shapes serotonergic development and SERT activity modulating breathing in a mouse model for Prader-Willi syndrome.Oxytocin Signaling in the Early Life of Mammals: Link to Neurodevelopmental Disorders Associated with ASD.Cross-cultural comparisons of obesity and growth in Prader-Willi syndrome.Inactivation of Socs3 in the hypothalamus enhances the hindbrain response to endogenous satiety signals via oxytocin signaling.An Early Postnatal Oxytocin Treatment Prevents Social and Learning Deficits in Adult Mice Deficient for Magel2, a Gene Involved in Prader-Willi Syndrome and Autism.Activation of Akt/FKHR in the medulla oblongata contributes to spontaneous respiratory recovery after incomplete spinal cord injury in adult rats.Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome.Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero.Expression of the Prader-Willi gene Necdin during mouse nervous system development correlates with neuronal differentiation and p75NTR expression.Homologous chromosomal locations of the four genes for inter-α-inhibitor and pre-α-inhibitor family in human and mouse: Assignment of the ancestral gene for the lipocalin superfamilyGene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadismA male with two contiguous inactivation centers on a single X chromosome: study of X inactivation and XIST expressionPhysical mapping of an Xq-proximal interstitial duplication in a malePhysical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndromeComprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Françoise Muscatelli
@ast
Françoise Muscatelli
@en
Françoise Muscatelli
@es
Françoise Muscatelli
@nl
Françoise Muscatelli
@sl
type
label
Françoise Muscatelli
@ast
Françoise Muscatelli
@en
Françoise Muscatelli
@es
Françoise Muscatelli
@nl
Françoise Muscatelli
@sl
prefLabel
Françoise Muscatelli
@ast
Françoise Muscatelli
@en
Françoise Muscatelli
@es
Françoise Muscatelli
@nl
Françoise Muscatelli
@sl
P1053
P-4650-2016
P106
P108
P21
P31
P3829
P496
0000-0003-4001-6528