About: Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

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About: Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Goto Sponge NotDistinct Permalink

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scientific article published on 01 December 1996

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в грудні 1996 (uk) im Dezember 1996 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'avientu de 1996 (ast) scientific article published on 01 December 1996 (en) գիտական հոդված հրատարակված 1996 թվականի դեկտեմբերի 1-ին (hy)
publication date	wds:Q71959076-3120149C-01D2-486D-830A-0104698A056B
publication date	1996-12-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q71959076-0192FFB9-31D3-4FAD-9EDD-4D9CDCF50D8C wds:Q71959076-29AABB5B-E451-44AD-A0EC-A364F774E5FB wds:Q71959076-66EFF82C-9E9C-4BB6-B40E-FDFA0A84014D wds:Q71959076-70943BA8-AF77-4EF8-8563-F805E67BB58C wds:Q71959076-79B97333-75DE-49BE-BE03-32422BC03197 wds:Q71959076-81FEE605-27AD-4335-BD0E-E77C4CDA636D wds:Q71959076-8F3FD456-2A40-4FF1-B730-EF173A24E7A3 wds:Q71959076-FDEF9A12-E4F8-4DDD-819E-1AED588EAECE
author name string	Hennekam RC Kosaki K Muenke M Roessler E Jones MC Feldman GL Kelley RL Palumbos JC
rdfs:label	Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? (en) Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? (nl)
skos:prefLabel	Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? (en) Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? (nl)
name	Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? (en) Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? (nl)
title	wds:Q71959076-8063999F-866E-4C70-B416-0EF50B92A17B
title	Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? (en)
page(s)	wds:Q71959076-6F983D55-F573-4A53-B474-E3CBB95DA1D2
page(s)	478-484
instance of	wds:Q71959076-B7C5BE5E-2915-4CC7-AFC4-7EBF549D8636
instance of	scholarly article
main subject	wds:Q71959076-A65A2D65-3065-4D54-AE18-B2BB077BB9CE
main subject	holoprosencephaly
PubMed ID	wds:Q71959076-5680FF84-9303-4804-81A0-B96955E6CE7E
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8989473
PubMed ID	8989473
published in	wds:Q71959076-8BEBA061-318E-4E2A-996F-2740FBA75BC7
published in	American Journal of Medical Genetics Part A
issue	wds:Q71959076-4C344FEB-F894-4E08-94A7-9458E5B6764F
volume	wds:Q71959076-762BA783-FC8A-4AF1-81C9-1B8256B61B9C
issue	4
volume	66
DOI	wds:Q71959076-4B682A17-2D15-45F9-B1BB-3AF3325AFC26
DOI	http://dx.doi.org/10.1002/(SICI)1096-8628(19961230)66:4%3C478::AID-AJMG22%3E3.0.CO;2-Q
DOI	10.1002/(SICI)1096-8628(19961230)66:4<478::AID-AJMG22>3.0.CO;2-Q
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q71959076
is cites work of	The sonic hedgehog-patched-gli pathway in human development and disease Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene Holoprosencephaly: new models, new insights Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Fetal alcohol exposure impairs Hedgehog cholesterol modification and signaling. Genetic malformations of the human cerebral cortex Cholesterol in signal transduction Holoprosencephaly Developmental roles and clinical significance of hedgehog signaling Holoprosencephaly: a paradigm for the complex genetics of brain development. Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein The Smith-Lemli-Opitz syndrome Gli proteins and Hedgehog signaling: development and cancer Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype Patterning of the embryonic forebrain Transcription factors Zic1 and Zic2 bind and transactivate the apolipoprotein E gene promoter. Sonic hedgehog The primary cilium at the crossroads of mammalian hedgehog signaling Human developmental disorders and the Sonic hedgehog pathway Cholesterol modification of proteins Semilobar holoprosencephaly with 21q22 deletion: an autopsy report Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management Multiple hits during early embryonic development: digenic diseases and holoprosencephaly Murine models of holoprosencephaly Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts MRI and 1H�MRS findings in Smith-Lemli-Opitz syndrome Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome Towards a greater understanding of the pathogenesis of holoprosencephaly Sterol metabolism disorders and neurodevelopment-an update. Inability to fully suppress sterol synthesis rates with exogenous sterol in embryonic and extraembyronic fetal tissues Malformation syndromes caused by disorders of cholesterol synthesis Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome. Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism Hedgehog signaling pathway: a novel model and molecular mechanisms of signal transduction Hedgehog signaling and steroidogenesis Holoprosencephaly in an 8.5-week triploidy gestation Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. The function of cholesterol in embryogenesis Mutational spectrum of smith-lemli-opitz syndrome patients in hungary Endogenous B-ring oxysterols inhibit the Hedgehog component Smoothened in a manner distinct from cyclopamine or side-chain oxysterols Multiple ligand binding sites regulate the Hedgehog signal transducer Smoothened in vertebrates. Reproducibility of academic preclinical translational research: lessons from the development of Hedgehog pathway inhibitors to treat cancer How the Ciliary Membrane Is Organized Inside-Out to Communicate Outside-In Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development. Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.

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