Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans. - Wikidata - wikimedia - TriplyDB

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.

http://www.wikidata.org/entity/Q37415443

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Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH Zebrafish con/disp1 reveals multiple spatiotemporal requirements for Hedgehog-signaling in craniofacial development.Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients The molecular genetics of holoprosencephaly.Analysis of genotype-phenotype correlations in human holoprosencephaly.Abnormal sterol metabolism in holoprosencephaly Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.Clinical findings in patients with GLI2 mutations--phenotypic variability.Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia 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 interactions NOTCH, a new signaling pathway implicated in holoprosencephaly.The relationship between sonic Hedgehog signaling, cilia, and neural tube defects 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.Molecular analysis of holoprosencephaly in South America.Pharmacogenetics of antidepressant treatment in obsessive-compulsive disorder: an update and implications for clinicians.In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.Annals of morphology fields and prepatterns. Editorial Festschrift for John C. Carey, MD, MPH.Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

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Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.

http://www.wikidata.org/entity/Q37415443

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

@tr

scientific article published on 31 January 2009

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

@cs

name

Truncating loss-of-function mu ...... microform features in humans.

@en

Truncating loss-of-function mu ...... microform features in humans.

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type

label

Truncating loss-of-function mu ...... microform features in humans.

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Truncating loss-of-function mu ...... microform features in humans.

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prefLabel

Truncating loss-of-function mu ...... microform features in humans.

@en

Truncating loss-of-function mu ...... microform features in humans.

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Truncating loss-of-function mu ...... microform features in humans.

@en

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Christèle Dubourg

http://www.w3.org/2001/XMLSchema#string

Claude Bendavid

http://www.w3.org/2001/XMLSchema#string

Erich Roessler

http://www.w3.org/2001/XMLSchema#string

Felicitas Lacbawan

http://www.w3.org/2001/XMLSchema#string

Maia V Ouspenskaia

http://www.w3.org/2001/XMLSchema#string

Philip A Beachy

http://www.w3.org/2001/XMLSchema#string

Yong Ma

http://www.w3.org/2001/XMLSchema#string

P2860

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

Mouse dispatched mutants fail to distribute hedgehog proteins and are defective in hedgehog signaling

Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched

Dispatched, a novel sterol-sensing domain protein dedicated to the release of cholesterol-modified hedgehog from signaling cells

Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.

Mouse Disp1 is required in sonic hedgehog-expressing cells for paracrine activity of the cholesterol-modified ligand.

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

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s00439-009-0628-7

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393-400

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scholarly article

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10.1007/S00439-009-0628-7

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4

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125

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Maximilian Muenke

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2009-01-31T00:00:00Z

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23965870

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19184110

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holoprosencephaly

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2774849

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