Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation - Wikidata - wikimedia - TriplyDB

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation

http://www.wikidata.org/entity/Q28208124

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Severe defects in proliferation and differentiation of lens cells in Foxe3 null mice FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation Contemporary genetic technologies and female reproduction FoxL2 and Smad3 coordinately regulate follistatin gene transcription Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families Analyzing the coordinated gene network underlying temperature-dependent sex determination in reptiles Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene Impaired fertility and FSH synthesis in gonadotrope-specific Foxl2 knockout mice Molecular abnormalities in ovarian cancer subtypes other than high-grade serous carcinoma.FOXL2 suppresses proliferation, invasion and promotes apoptosis of cervical cancer cells Pathogenesis and causes of premature ovarian failure: an update.Human forkhead L2 represses key genes in granulosa cell differentiation including aromatase, P450scc, and cyclin D2 Long-range control of gene expression: emerging mechanisms and disruption in disease.LATS1 phosphorylates forkhead L2 and regulates its transcriptional activity.Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.Roles of binding elements, FOXL2 domains, and interactions with cJUN and SMADs in regulation of FSHβ.Ovarian aging and premature ovarian failure.An investigation into FOXE1 polyalanine tract length in premature ovarian failure.FOXL2 Is an Essential Activator of SF-1-Induced Transcriptional Regulation of Anti-Müllerian Hormone in Human Granulosa Cells.Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome Overexpression of wild-type but not C134W mutant FOXL2 enhances GnRH-induced cell apoptosis by increasing GnRH receptor expression in human granulosa cell tumors.Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.MiR-30a upregulates BCL2A1, IER3 and cyclin D2 expression by targeting FOXL2 The Local Control of the Pituitary by Activin Signaling and Modulation.Mutant Forkhead L2 (FOXL2) proteins associated with premature ovarian failure (POF) dimerize with wild-type FOXL2, leading to altered regulation of genes associated with granulosa cell differentiation.Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome.Minireview: roles of the forkhead transcription factor FOXL2 in granulosa cell biology and pathology DSDs: genetics, underlying pathologies and psychosexual differentiation.Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failure FOXL2 is involved in the synergy between activin and progestins on the follicle-stimulating hormone β-subunit promoter Single stage surgery for Blepharophimosis syndrome.Cell-type specific modulation of pituitary cells by activin, inhibin and follistatin.Identification of disease genes by whole genome CGH arrays.The genetic basis of premature ovarian failure.In control of biology: of mice, men and Foxes Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome.

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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation

http://www.wikidata.org/entity/Q28208124

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2001 nî lūn-bûn

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2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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Spectrum of FOXL2 gene mutatio ...... enotype--phenotype correlation

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Spectrum of FOXL2 gene mutatio ...... enotype--phenotype correlation

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Spectrum of FOXL2 gene mutatio ...... enotype--phenotype correlation

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Spectrum of FOXL2 gene mutatio ...... enotype--phenotype correlation

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Spectrum of FOXL2 gene mutatio ...... enotype--phenotype correlation

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Spectrum of FOXL2 gene mutatio ...... enotype--phenotype correlation

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Spectrum of FOXL2 gene mutatio ...... enotype--phenotype correlation

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Spectrum of FOXL2 gene mutatio ...... enotype--phenotype correlation

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