Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
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Histogenesis of retinal dysplasia in trisomy 13Functional analysis of mutations in TGIF associated with holoprosencephaly.Modeling congenital disease and inborn errors of development in Drosophila melanogasterHedgehog Cholesterolysis: Specialized Gatekeeper to Oncogenic SignalingHoloprosencephaly.Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signalingThe molecular genetics of holoprosencephaly.Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.Processing and turnover of the Hedgehog protein in the endoplasmic reticulum.New chemical probes targeting cholesterylation of Sonic Hedgehog in human cells and zebrafish.Hedgehog signaling stimulates the conversion of cholesterol to steroids.Förster resonance energy transfer-based cholesterolysis assay identifies a novel hedgehog inhibitor.Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactionsHedgehog secretion and signal transduction in vertebrates.New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.Proteins of the Hedgehog signaling pathway as therapeutic targets against cancer.Smoothened antagonists: a promising new class of antitumor agents.Morphogen transport: theoretical and experimental controversies.In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.Dispatched and scube mediate the efficient secretion of the cholesterol-modified hedgehog ligand.Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.Increase of proliferating oligodendroglial progenitors in the adult mouse brain upon Sonic hedgehog delivery in the lateral ventricle.Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.HPE SHH variants don't undergo autoproteolytic cleavageAutoproteolytic cleavage of Hh precursorsComplex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.Emerging Roles of DYRK Kinases in Embryogenesis and Hedgehog Pathway Control.
P2860
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P2860
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Functional characterization of ...... ciated with holoprosencephaly.
@en
type
label
Functional characterization of ...... ciated with holoprosencephaly.
@en
prefLabel
Functional characterization of ...... ciated with holoprosencephaly.
@en
P2093
P2860
P356
P1476
Functional characterization of ...... ciated with holoprosencephaly.
@en
P2093
Christèle Dubourg
Elisabeth Traiffort
Hélène Faure
Marie-Renée Durou
Martial Ruat
Sylvie Odent
Véronique David
P2860
P304
42889-42897
P356
10.1074/JBC.M405161200
P407
P577
2004-07-28T00:00:00Z