Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
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Medical sequencing of candidate genes for nonsyndromic cleft lip and palateA potential role of alternative splicing in the regulation of the transcriptional activity of human GLI2 in gonadal tissues.Testing reported associations of genetic risk factors for oral clefts in a large Irish study populationNovel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionFunctional analysis of mutations in TGIF associated with holoprosencephaly.The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological ConsiderationsModeling congenital disease and inborn errors of development in Drosophila melanogasterHoloprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humansContext-dependent signal integration by the GLI code: the oncogenic load, pathways, modifiers and implications for cancer therapyRegulation of a remote Shh forebrain enhancer by the Six3 homeoproteinGeneration of mice with functional inactivation of talpid3, a gene first identified in chickenSox2 cooperates with Chd7 to regulate genes that are mutated in human syndromesThe buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signalingPhenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia.Holoprosencephaly.Single median maxillary central incisor: new data and mutation review.Hypopituitarism oddities: congenital causes.Identification of Hedgehog signaling inhibitors with relevant human exposure by small molecule screening.Genetic regulation of pituitary gland development in human and mouseControlling destiny through chemistry: small-molecule regulators of cell fate.Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literatureCurrent recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsThe molecular genetics of holoprosencephaly.Analysis of genotype-phenotype correlations in human holoprosencephaly.Ascl1/Mash1 is a novel target of Gli2 during Gli2-induced neurogenesis in P19 EC cells.The use of neuroimaging for assessing disorders of pituitary development.Holoprosencephaly: recommendations for diagnosis and managementBoc modifies the spectrum of holoprosencephaly in the absence of Gas1 functionCharacterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.Novel insights into the aetiology and pathogenesis of hypopituitarism.CDO, an Hh-coreceptor, mediates lung cancer cell proliferation and tumorigenicity through Hedgehog signalingCis-regulatory control of human GLI2 expression in the developing neural tube and limb bud.A genome-wide linkage scan for quantitative trait loci influencing the craniofacial complex in humans (Homo sapiens sapiens).Renal anomalies associated with ectopic neurohypophysisClinical findings in patients with GLI2 mutations--phenotypic variability.The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.The hedgehog/Gli signaling paradigm in prostate cancerMinimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.Direct and indirect requirements of Shh/Gli signaling in early pituitary development.
P2860
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P2860
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 27 October 2003
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Loss-of-function mutations in ...... loprosencephaly-like features.
@en
Loss-of-function mutations in ...... loprosencephaly-like features.
@nl
type
label
Loss-of-function mutations in ...... loprosencephaly-like features.
@en
Loss-of-function mutations in ...... loprosencephaly-like features.
@nl
prefLabel
Loss-of-function mutations in ...... loprosencephaly-like features.
@en
Loss-of-function mutations in ...... loprosencephaly-like features.
@nl
P2093
P2860
P356
P1476
Loss-of-function mutations in ...... loprosencephaly-like features.
@en
P2093
Ariel Ruiz i Altaba
Elizabeth R Roeder
Erich Roessler
Esther Casas
Jeffrey E Ming
Jose L Mullor
Maximilian Muenke
William P Allen
Yang-Zhu Du
P2860
P304
13424-13429
P356
10.1073/PNAS.2235734100
P407
P577
2003-10-27T00:00:00Z