Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
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Histogenesis of retinal dysplasia in trisomy 13Testing reported associations of genetic risk factors for oral clefts in a large Irish study populationMutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotypeFunctional analysis of mutations in TGIF associated with holoprosencephaly.The therapeutic potential of modulators of the Hedgehog-Gli signaling pathwayThe you gene encodes an EGF-CUB protein essential for Hedgehog signaling in zebrafishModeling congenital disease and inborn errors of development in Drosophila melanogasterLanguage Impairments in ASD Resulting from a Failed Domestication of the Human BrainMedulloblastoma exome sequencing uncovers subtype-specific somatic mutationsHoloprosencephaly.Controlling destiny through chemistry: small-molecule regulators of cell fate.Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsThe molecular genetics of holoprosencephaly.Holoprosencephaly due to numeric chromosome abnormalities.Analysis of genotype-phenotype correlations in human holoprosencephaly.Cleft lip and palate genetics and application in early embryological development.Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice.Abnormal sterol metabolism in holoprosencephalyHoloprosencephaly: recommendations for diagnosis and managementBoc modifies the spectrum of holoprosencephaly in the absence of Gas1 functionPTCH1 duplication in a family with microcephaly and mild developmental delayThe unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.CDO, an Hh-coreceptor, mediates lung cancer cell proliferation and tumorigenicity through Hedgehog signalingA genome-wide linkage scan for quantitative trait loci influencing the craniofacial complex in humans (Homo sapiens sapiens).Multiple hits during early embryonic development: digenic diseases and holoprosencephalyPTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic reviewImpact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice.The Hedgehog signaling pathway--implications for drug targets in cancer and neurodegenerative disorders.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 interactionsNevoid basal cell carcinoma (Gorlin) syndrome.Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionAn ENU mutagenesis screen in zebrafish for visual system mutants identifies a novel splice-acceptor site mutation in patched2 that results in Colobomas.Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkThe relationship between sonic Hedgehog signaling, cilia, and neural tube defectsZebrafish blowout provides genetic evidence for Patched1-mediated negative regulation of Hedgehog signaling within the proximal optic vesicle of the vertebrate eye.Gene-environment interactions reveal a homeostatic role for cholesterol metabolism during dietary folate perturbation in mice.Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.
P2860
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P2860
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
description
2002 nî lūn-bûn
@nan
2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Mutations in PATCHED-1, the re ...... ociated with holoprosencephaly
@ast
Mutations in PATCHED-1, the re ...... ociated with holoprosencephaly
@en
Mutations in PATCHED-1, the re ...... ociated with holoprosencephaly
@nl
type
label
Mutations in PATCHED-1, the re ...... ociated with holoprosencephaly
@ast
Mutations in PATCHED-1, the re ...... ociated with holoprosencephaly
@en
Mutations in PATCHED-1, the re ...... ociated with holoprosencephaly
@nl
prefLabel
Mutations in PATCHED-1, the re ...... ociated with holoprosencephaly
@ast
Mutations in PATCHED-1, the re ...... ociated with holoprosencephaly
@en
Mutations in PATCHED-1, the re ...... ociated with holoprosencephaly
@nl
P2093
P3181
P1433
P1476
Mutations in PATCHED-1, the re ...... ociated with holoprosencephaly
@en
P2093
Erich Roessler
Eva Sujansky
Han G Brunner
Jeffrey E Ming
Mahin Golabi
Michelle E Kaupas
Robert F Stratton
Sherri J Bale
P2888
P304
P3181
P356
10.1007/S00439-002-0695-5
P407
P577
2002-04-01T00:00:00Z
P6179
1052434342