De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
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Structural basis for fibroblast growth factor receptor 2 activation in Apert syndromeGenetic variation among world populations: inferences from 100 Alu insertion polymorphismsGrowth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studiesRoles for retrotransposon insertions in human diseaseA Genetic-Pathophysiological Framework for CraniosynostosisHuman transposon tectonicsPaternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndromeEvidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse modelGenomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosisIdentification of three new Alu Yb subfamilies by source tracking of recently integrated Alu Yb elementsAlu mobile elements: from junk DNA to genomic gemsFox-2 mediates epithelial cell-specific fibroblast growth factor receptor 2 exon choiceIntronic Alus influence alternative splicing.Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogoniaUnder the genomic radar: the stealth model of Alu amplificationTherapeutic effect of nanogel-based delivery of soluble FGFR2 with S252W mutation on craniosynostosis.Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndromeMobile elements and viral integrations prompt considerations for bacterial DNA integration as a novel carcinogenBiochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.Gene properties and chromatin state influence the accumulation of transposable elements in genesMobilizing diversity: transposable element insertions in genetic variation and disease.Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.The Fibroblast Growth Factor signaling pathwayp.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruptionFGFs, their receptors, and human limb malformations: clinical and molecular correlations.A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Parent-of-origin effects in SOX2 anophthalmia syndromeExpanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes.Central nervous system and cervical spine abnormalities in Apert syndrome.Retroelements versus APOBEC3 family members: No great escape from the magnificent sevenPopulation and clinical genetics of human transposable elements in the (post) genomic era.Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.Syndromic craniosynostosis: from history to hydrogen bonds.Understanding craniosynostosis as a growth disorder
P2860
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P2860
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
description
1999 nî lūn-bûn
@nan
1999 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
De novo alu-element insertions ...... gical basis for Apert syndrome
@ast
De novo alu-element insertions ...... gical basis for Apert syndrome
@en
De novo alu-element insertions ...... gical basis for Apert syndrome
@nl
type
label
De novo alu-element insertions ...... gical basis for Apert syndrome
@ast
De novo alu-element insertions ...... gical basis for Apert syndrome
@en
De novo alu-element insertions ...... gical basis for Apert syndrome
@nl
prefLabel
De novo alu-element insertions ...... gical basis for Apert syndrome
@ast
De novo alu-element insertions ...... gical basis for Apert syndrome
@en
De novo alu-element insertions ...... gical basis for Apert syndrome
@nl
P2093
P2860
P50
P356
P1476
De novo alu-element insertions ...... gical basis for Apert syndrome
@en
P2093
D M McDonald-McGinn
E H Zackai
G M Morriss-Kay
M Oldridge
P2860
P304
P356
10.1086/302245
P407
P577
1999-02-01T00:00:00Z