Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation
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Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb developmentThe Dlx5 and Foxg1 transcription factors, linked via miRNA-9 and -200, are required for the development of the olfactory and GnRH system.Sp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb developmentAltered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial DysostosisThe shape of the human language-ready brainDlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.Phenotypic subregions within the split-hand/foot malformation 1 locus.Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformationA LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequenceUnderstanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray.DLX3 regulates bone mass by targeting genes supporting osteoblast differentiation and mineral homeostasis in vivoExome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.Coding exons function as tissue-specific enhancers of nearby genesDeletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.BMP-mediated functional cooperation between Dlx5;Dlx6 and Msx1;Msx2 during mammalian limb developmentSystematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation.DLX4 is associated with orofacial clefting and abnormal jaw development.The apical ectodermal ridge of the mouse model of ectrodactyly Dlx5;Dlx6-/- shows altered stratification and cell polarity, which are restored by exogenous Wnt5a ligandSplit Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.Split-hand/foot malformation - molecular cause and implications in genetic counseling.Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.Central and ulnar cleft hands: a review of concurrent deformities in a series of 47 patients and their pathogenesis.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Transcriptional control of chondrocyte specification and differentiation.DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations.Limb development: a paradigm of gene regulation.Signaling pathways and tissue interactions in neural plate border formation.A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1.Functional characterization of tissue-specific enhancers in the DLX5/6 locus.7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance.Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.Classification of dorsal and ventral dimelia in humans.Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation.Deletion of a Long-Range Dlx5 Enhancer Disrupts Inner Ear Development in Mice.Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
P2860
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P2860
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Identification of a novel DLX5 ...... lit hand and foot malformation
@ast
Identification of a novel DLX5 ...... lit hand and foot malformation
@en
Identification of a novel DLX5 ...... lit hand and foot malformation
@nl
type
label
Identification of a novel DLX5 ...... lit hand and foot malformation
@ast
Identification of a novel DLX5 ...... lit hand and foot malformation
@en
Identification of a novel DLX5 ...... lit hand and foot malformation
@nl
prefLabel
Identification of a novel DLX5 ...... lit hand and foot malformation
@ast
Identification of a novel DLX5 ...... lit hand and foot malformation
@en
Identification of a novel DLX5 ...... lit hand and foot malformation
@nl
P2093
P3181
P1476
Identification of a novel DLX5 ...... lit hand and foot malformation
@en
P2093
Hanan E Shamseldin
Maha A Faden
Walid Alashram
P3181
P356
10.1136/JMEDGENET-2011-100556
P407
P577
2012-01-01T00:00:00Z