Associated Papers
Outcomes of cochlear implantation in 75 patients with auditory neuropathy.
Wu J et al.
Frontiers in Neuroscience, 2023
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.
Chen J et al.
Frontiers in Genetics, 2022
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne E et al.
European Journal of Human Genetics : Ejhg, 2021
An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.
Chen RZ et al.
Scientific Reports, 2020
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
Down-regulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferation.
Guenou H et al.
The American Journal of Pathology, 2006
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
Kress W et al.
European Journal of Human Genetics : Ejhg, 2006
A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome.
Guenou H et al.
Human Molecular Genetics, 2005
Functional analysis of natural mutations in two TWIST protein motifs.
Funato N et al.
Human Mutation, 2005
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.
de Heer IM et al.
Plastic and Reconstructive Surgery, 2005
In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome.
Ratisoontorn C et al.
Bone, 2005
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
Cai J et al.
Human Genetics, 2003
Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation.
Yousfi M et al.
Human Molecular Genetics, 2002
Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome.
Yousfi M et al.
The Journal of Clinical Investigation, 2001
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.
El Ghouzzi V et al.
Human Molecular Genetics, 2000
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
Paznekas WA et al.
American Journal of Human Genetics, 1998
Novel mutation detection in craniosynostosis promotes characterization, identification, gene expression, tissue engineering and helps clinical practice and translational research.
Barik M et al.
Neurology India, 0