Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification (Q28140224)

ORCID Public Data File 2021

author name string

A O Wilkie

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Z Tang

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N Elanko

3

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S Walsh

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J A Hurst

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S A Wall

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K H Chrzanowska

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R E Maxson

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

9

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language of work or name

English

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publication date

April 2000

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published in

Nature Genetics

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volume

24

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issue

4

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page(s)

387-90

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cites work

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7 January 2021

Normal variants and congenital anomalies in the region of the obelion

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Symptomatic large parietal foramina

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Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family

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A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

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The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

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Molecular and clinical examination of an Italian DEFECT 11 family

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Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families

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A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

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Parietal foramina clavicular hypoplasia. An autosomal dominant syndrome

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Prenatal sonographic appearance of foramina parietalia permagna

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Foramina parietalia permagna: report of nine cases in one family

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Homeodomain-DNA recognition

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Homology modeling using simulated annealing of restrained molecular dynamics and conformational search calculations with CONGEN: application in predicting the three-dimensional structure of murine homeodomain Msx-1.

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Covariation of residues in the homeodomain sequence family

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Multiple amino acids determine the DNA binding specificity of the Msx-1 homeodomain

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A human MSX1 homeodomain missense mutation causes selective tooth agenesis

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Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis

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MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

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7 January 2021

Nucleotides flanking a conserved TAAT core dictate the DNA binding specificity of three murine homeodomain proteins

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7 January 2021

Msx2 gene dosage influences the number of proliferative osteogenic cells in growth centers of the developing murine skull: a possible mechanism for MSX2-mediated craniosynostosis in humans.

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7 January 2021

Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation

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The molecular basis of genetic dominance

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TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

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Expression of a human homeobox-containing gene is regulated by 1,25(OH)2D3 in bone cells

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7 January 2021