2024
A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly
Khan M, Abdullah, Khan H, Zaman A, Ahmed S, Iqbal P, Bilal M, Ullah K, Hasni M, Ullah I, Mis E, Lakhani S, Ahmad W. A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly. Molecular Syndromology 2024, 15: 443-449. PMID: 40657133, PMCID: PMC12246549, DOI: 10.1159/000539279.Peer-Reviewed Original ResearchHomozygous missense variantWhole-exome sequencingHereditary limb malformationsSonic hedgehog pathwayAutosomal recessive mannerSequence variantsMissense variantsProtein foldingIsolated postaxial polydactylyExome sequencingSegregation analysisNovel variantsConsanguineous familySanger sequencingSMO genesExtra digitsHomology modelingCellular differentiationHedgehog pathwayRecessive mannerEmbryonic cellsPostaxial polydactylySequencePreaxial polydactylyVariants
2020
Chaotic activation of developmental signalling pathways drives idiopathic pulmonary fibrosis
Froidure A, Marchal-Duval E, Homps-Legrand M, Ghanem M, Justet A, Crestani B, Mailleux A. Chaotic activation of developmental signalling pathways drives idiopathic pulmonary fibrosis. European Respiratory Review 2020, 29: 190140. PMID: 33208483, PMCID: PMC9488512, DOI: 10.1183/16000617.0140-2019.Peer-Reviewed Original ResearchConceptsIdiopathic pulmonary fibrosisPulmonary fibrosisActivation of developmental pathwaysChronically injured lungTransforming growth factor-bChronic lung injuryStem cell therapyType 2 cell hyperplasiaSonic hedgehog pathwayRemodelling of lung parenchymaGrowth factor BIdiopathic pulmonary fibrosis fibroblastsRegulation of cell transformationLung repairLung injuryCell therapyExpression of pathwaysActivation of developmental signaling pathwaysLung architectureLung parenchymaDevelopmental signaling pathwaysTranscriptional integrityHedgehog pathwayFibrosisLung
2018
Hedgehog stimulates hair follicle neogenesis by creating inductive dermis during murine skin wound healing
Lim CH, Sun Q, Ratti K, Lee SH, Zheng Y, Takeo M, Lee W, Rabbani P, Plikus MV, Cain JE, Wang DH, Watkins DN, Millar S, Taketo MM, Myung P, Cotsarelis G, Ito M. Hedgehog stimulates hair follicle neogenesis by creating inductive dermis during murine skin wound healing. Nature Communications 2018, 9: 4903. PMID: 30464171, PMCID: PMC6249328, DOI: 10.1038/s41467-018-07142-9.Peer-Reviewed Original ResearchConceptsSonic hedgehog pathwayMechanisms of scarringHair follicle neogenesisHF neogenesisFibrotic repairScarring woundsMurine skinShh overexpressionWound repairHair follicle regenerationWound healingFollicle neogenesisHedgehog pathwayDermal papillaWnt activationFibrosisWoundsScarringHealingSignal activationNeogenesisActivation resultsMammalian woundsActivationFollicle regeneration
2012
Gene Expression, Molecular Class Changes, and Pathway Analysis after Neoadjuvant Systemic Therapy for Breast Cancer
Gonzalez-Angulo AM, Iwamoto T, Liu S, Chen H, Do KA, Hortobagyi GN, Mills GB, Meric-Bernstam F, Symmans WF, Pusztai L. Gene Expression, Molecular Class Changes, and Pathway Analysis after Neoadjuvant Systemic Therapy for Breast Cancer. Clinical Cancer Research 2012, 18: 1109-1119. PMID: 22235097, PMCID: PMC3288822, DOI: 10.1158/1078-0432.ccr-11-2762.Peer-Reviewed Original ResearchConceptsResidual cancerBreast cancerAdjuvant treatment strategiesNeoadjuvant systemic therapyLike breast cancerBasal-like cancersSmall G proteinsCalmodulin-dependent protein kinase IICancer stem cell signaturesEnergy metabolismFine-needle aspiration specimensGene expression differencesEpithelial-mesenchymal transitionSonic hedgehog (Shh) signalingNeedle aspiration specimensProtein kinase IIImmune-related pathwaysNew therapeutic insightsGene expression dataStem cell signatureSonic hedgehog pathwaySystemic therapy
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