The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

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Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients The molecular genetics of holoprosencephaly.Analysis of genotype-phenotype correlations in human holoprosencephaly.A novel proteolytic event controls Hedgehog intracellular sorting and distribution to receptive fields Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.Holoprosencephaly: a guide to diagnosis and clinical management Holoprosencephaly: recommendations for diagnosis and management A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.Processing and turnover of the Hedgehog protein in the endoplasmic reticulum.Boc modifies the holoprosencephaly spectrum of Cdo mutant mice.TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype Förster resonance energy transfer-based cholesterolysis assay identifies a novel hedgehog inhibitor.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 interactions The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18 New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.NOTCH, a new signaling pathway implicated in holoprosencephaly.High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly Identification of N-terminal residues of Sonic Hedgehog important for palmitoylation by Hedgehog acyltransferase Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.Mechanism of inhibition of the tumor suppressor Patched by Sonic Hedgehog.Molecular analysis of holoprosencephaly in South America.Palmitoylation of Hedgehog proteins.The molecular basis of human congenital limb malformations.Morphogen transport: theoretical and experimental controversies.In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.A Single Aspartate Coordinates Two Catalytic Steps in Hedgehog Autoprocessing Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene.Bioorthogonal probes for imaging sterols in cells.Genetic interactions between the hedgehog co-receptors Gas1 and Boc regulate cell proliferation during murine palatogenesis.Human germline hedgehog pathway mutations predispose to fatty liver.Hh mutants abrogate ligand secretion Hh mutants that don't undergo autocatalytic processing are degraded by ERAD Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.HPE SHH variants don't undergo autoproteolytic cleavage Autoproteolytic cleavage of Hh precursors A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.

P2860

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P2860

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

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http://www.wikidata.org/entity/Q37411003

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article científic

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on October 2009

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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