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Defects in enteric innervation and kidney development in mice lacking GDNF
GLIAL-CELL-LINE-DERIVED neurotrophic factor (GDNF) has been isolated as a neurotrophic factor for midbrain dopaminergic neurons1. Because of its neurotrophic activity on a wide range of neuronalExpand
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Dickkopf1 is required for embryonic head induction and limb morphogenesis in the mouse.
Dickkopf1 (Dkk1) is a secreted protein that acts as a Wnt inhibitor and, together with BMP inhibitors, is able to induce the formation of ectopic heads in Xenopus. Here, we show that Dkk1 null mutantExpand
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Specification of Pituitary Cell Lineages by the LIM Homeobox Gene Lhx3
During pituitary organogenesis, the progressive differentiation of distinct pituitary-specific cell lineages from a common primordium involves a series of developmental decisions and inductiveExpand
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Altered striatal function in a mutant mouse lacking D1A dopamine receptors.
Of the five known dopamine receptors, D1A and D2 represent the major subtypes expressed in the striatum of the adult brain. Within the striatum, these two subtypes are differentially distributed inExpand
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Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange– Nielsen Syndrome
KCNQ1 encodes KCNQ1, which belongs to a family of voltage-dependent K+ ion channel proteins. KCNQ1 associates with a regulatory subunit, KCNE1, to produce the cardiac repolarizing current, IKs.Expand
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A transcriptional insulator at the imprinted H19/Igf2 locus.
Igf2 and H19 exhibit parent-of-origin-specific monoallelic expression. H19 is expressed from the maternal chromosome and Igf2 from the paternal. The two genes share enhancer elements and monoallelicExpand
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H19 and Igf2 monoallelic expression is regulated in two distinct ways by a shared cis acting regulatory region upstream of H19.
H19 and Igf2 are expressed in a monoallelic fashion from the maternal and paternal chromosomes, respectively. A region upstream of H19 has been shown to regulate such imprinted expression of bothExpand
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Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans.
Inherited long QT syndrome is most frequently associated with mutations in KCNQ1, which encodes the primary subunit of a potassium channel. Patients with mutations in KCNQ1 may show only the cardiacExpand
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Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene
GAUCHER'S disease is the most prevalent lysosomal storage disorder in humans and results from an autosomally inherited deficiency of the enzyme glucocerebrosidase (β-D-glucosyl-N-acylsphingosineExpand
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A large upstream region is not necessary for gene expression or hypersensitive site formation at the mouse beta -globin locus.
Developmental expression at the beta-globin locus is regulated in part by the locus control region, a region upstream of the genes containing at least five major DNase I hypersensitive sites (HSs) inExpand
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