about
The Greig cephalopolysyndactyly syndromeGLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localizationThe sonic hedgehog-patched-gli pathway in human development and diseaseMutation in GLI3 in postaxial polydactyly type AMolecular analysis of SALL1 mutations in Townes-Brocks syndrome.Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers.Point mutations in GLI3 lead to misregulation of its subcellular localization.Developmental pathways: Sonic hedgehog-Patched-GLIReconstructing the history of human limb development: lessons from birth defects.Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb developmentTranscription factors in dysmorphology.Acromelia-oligodontia syndrome.Long-range control of gene expression: emerging mechanisms and disruption in disease.Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsThe VACTERL association: lessons from the Sonic hedgehog pathway.SALL1 mutations in Townes-Brocks syndrome and related disorders.The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.Suppressor of Fused Is Required for Determining Digit Number and Identity via Gli3/Fgfs/GremlinA large duplication involving the IHH locus mimics acrocallosal syndrome.Craniofacial Ciliopathies Reveal Specific Requirements for GLI Proteins during Development of the Facial Midline.Estimating the selective effects of heterozygous protein-truncating variants from human exome data.A review of hedgehog signaling in cranial bone developmentMolecular basis for skeletal variation: insights from developmental genetic studies in mice.The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.Recent perspectives on the genetic background of neural tube defects with special regard to iniencephaly.Megabladder mouse model of congenital obstructive nephropathy: genetic etiology and renal adaptation.Primary cilia in neurodevelopmental disorders.Integration of a transposon into the Gli3 gene in the Pdn mouse.In vitro screening of embryos by whole-genome sequencing: now, in the future or never?Pulmonary Hypertension and Cancer: Etiology, Diagnosis, and Management.A novel Gli3 enhancer controls the Gli3 spatiotemporal expression pattern through a TALE homeodomain protein binding siteA novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient.Cis-regulatory underpinnings of human GLI3 expression in embryonic craniofacial structures and internal organs.Exencephaly induction by valproic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn.GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.Sonic hedgehog expression in Gli3 depressed mouse embryo, Pdn/Pdn.Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.Prevention of ochratoxin A-induced neural tube defects by folic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn.Genetic susceptibility in the neural tube defects induced by ochratoxin A in the genetic arhinencephaly mouse, Pdn/Pdn.
P2860
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P2860
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Point mutations in human GLI3 cause Greig syndrome.
@en
Point mutations in human GLI3 cause Greig syndrome.
@nl
type
label
Point mutations in human GLI3 cause Greig syndrome.
@en
Point mutations in human GLI3 cause Greig syndrome.
@nl
prefLabel
Point mutations in human GLI3 cause Greig syndrome.
@en
Point mutations in human GLI3 cause Greig syndrome.
@nl
P2093
P2860
P356
P1476
Point mutations in human GLI3 cause Greig syndrome.
@en
P2093
Bornholdt D
Grzeschik KH
Kalff-Suske M
Vortkamp A
P2860
P304
P356
10.1093/HMG/6.11.1979
P577
1997-10-01T00:00:00Z