Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome (Q28279180)

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Gabriele Lieb

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Birgit Petersen

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Maria Büsse-Ratzka

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Jürgen Kunz

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Edeltraut Reinhart

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Wolf-Dieter Schäfer

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Johanna Sold

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Florian Hoppe

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Jan Pahnke

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Andreas Trusen

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Niels Sörensen

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Jürgen Krauss

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Hartmut Collmann

European Journal of Human Genetics

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language of work or name

English

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publication date

January 2006

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published in

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volume

14

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issue

1

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page(s)

39-48

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cites work

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Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

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Mutations of the TWIST gene in the Saethre-Chotzen syndrome

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Mutations in the human TWIST gene

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Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome

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A TWIST in the fate of human osteoblasts identifies signaling molecules involved in skull development

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Genetics of craniofacial development and malformation

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Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity

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A Twist in fate: evolutionary comparison of Twist structure and function

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A twist code determines the onset of osteoblast differentiation

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Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.

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Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses)

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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome

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The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation

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A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

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A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome

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Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity

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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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The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family.

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Prognosis for mental function in Apert's syndrome

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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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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

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A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation

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Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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Saethre-Chotzen syndrome: A broad and variable pattern of skeletal malformations

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