Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
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Fog2 is required for normal diaphragm and lung development in mice and humansOesophageal atresiaHistogenesis of retinal dysplasia in trisomy 13Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defectsHoloprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-pairedCharacterization of two patched receptors for the vertebrate hedgehog protein familyA homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesisThe sonic hedgehog-patched-gli pathway in human development and diseaseIndian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levelsStructural insights into hedgehog ligand sequestration by the human hedgehog-interacting protein HHIPHolt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyWNT5A mutations in patients with autosomal dominant Robinow syndromeA human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene familyOpitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathyFamilial syndromic esophageal atresia maps to 2p23-p24.A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis.Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual systemExpression of human GLI in mice results in failure to thrive, early death, and patchy Hirschsprung-like gastrointestinal dilatationOesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiologyFunctional analysis of mutations in TGIF associated with holoprosencephaly.Inhibition of Hedgehog signaling by direct binding of cyclopamine to SmoothenedRoughing up Smoothened: chemical modulators of hedgehog signalingThe therapeutic potential of modulators of the Hedgehog-Gli signaling pathwayTargeting self-renewal pathways in cancer stem cells: clinical implications for cancer therapyHedgehog Cholesterolysis: Specialized Gatekeeper to Oncogenic SignalingHoloprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humansHedgehog signaling inhibitors as anti-cancer agents in osteosarcomaThe mode of Hedgehog binding to Ihog homologues is not conserved across different phylaTooth agenesis and orofacial clefting: genetic brothers in arms?Genetic and teratogenic approaches to craniofacial developmentExclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndromeDevelopmental field defects: coming together of associations and sequences during blastogenesisMolecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesisEye development and retinogenesisA sonic hedgehog missense mutation associated with holoprosencephaly causes defective binding to GAS1Zic2 regulates the kinetics of neurulationGas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehogSonic hedgehog is essential to foregut developmentRegulation of a remote Shh forebrain enhancer by the Six3 homeoprotein
P2860
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P2860
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
description
1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1996
@ast
im November 1996 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1996/11/01)
@sk
vědecký článek publikovaný v roce 1996
@cs
wetenschappelijk artikel (gepubliceerd op 1996/11/01)
@nl
наукова стаття, опублікована в листопаді 1996
@uk
name
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
@ast
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
@en
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
@nl
type
label
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
@ast
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
@en
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
@nl
prefLabel
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
@ast
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
@en
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
@nl
P2093
P2860
P3181
P356
P1433
P1476
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
@en
P2093
E. Belloni
E. Roessler
K. Gaudenz
L. C. Tsui
S. W. Scherer
P2860
P2888
P304
P3181
P356
10.1038/NG1196-357
P407
P577
1996-11-01T00:00:00Z