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Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
TLDR
A mutation was identified in the alpha-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype. Expand
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
TLDR
A mutation was identified in the α-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype. Expand
Mind bomb is a ubiquitin ligase that is essential for efficient activation of Notch signaling by Delta.
TLDR
Cell transplantation studies suggest that mib function is essential in the signaling cell for efficient activation of Notch in neighboring cells, and observations support a model for Notch activation where the Delta-Notch interaction is followed by endocytosis of Delta and transendocyTosis of the Notch extracellular domain by the signalingcell. Expand
Repressor activity of Headless/Tcf3 is essential for vertebrate head formation
TLDR
The zebrafish headless (hdl) mutant is described and it is shown that its severe head defects are due to a mutation in T-cell factor-3, a member of the Tcf/Lef family, providing genetic evidence that a component of the Wnt signalling pathway is essential in vertebrate head formation and patterning. Expand
Positional cloning of the gene for multiple endocrine neoplasia-type 1.
TLDR
The identification of MEN1 will enable improved understanding of the mechanism of endocrine tumorigenesis and should facilitate early diagnosis of multiple endocrine neoplasia-type 1. Expand
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
TLDR
It is concluded that AGS is caused by haploinsufficiency of JAG1, the human homologue of rat Jagged1, which encodes a ligand for the Notch receptor, an attractive candidate gene for a developmental disorder in humans. Expand
Menin Interacts with the AP1 Transcription Factor JunD and Represses JunD-Activated Transcription
TLDR
Observations suggest that menin's tumor suppressor function involves direct binding to JunD and inhibition of JunD activated transcription. Expand
A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors.
TLDR
A mouse model was generated through homologous recombination of the mouse homolog Men1 to examine the role of MEN1 in tumor formation, supporting its role as a tumor suppressor gene. Expand
Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.
TLDR
Familial multiple endocrine neoplasia type 1 (FMEN1) is an autosomal dominant trait characterized by tumors of the parathyroids, gastro-intestinal endocrine tissue, anterior pituitary and other tissues, supporting the prediction that MEN1 is a tumor suppressing gene. Expand
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
TLDR
The identification of the gene BBS1 is reported and show that a missense mutation of this gene is a frequent cause of BBS, and data is provided showing that this common mutation is not involved in triallelic inheritance. Expand
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