Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome
about
3' deletions cause aniridia by preventing PAX6 gene expressionThe histone deacetylase 9 gene encodes multiple protein isoformsNormal and disease-related biological functions of Twist1 and underlying molecular mechanismsThe proto-oncogene TWIST1 is regulated by microRNAsTWIST1 Gene: First Insights in Felis catus.AT-rich palindromes mediate the constitutional t(11;22) translocation.Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.Tamoxifen inhibits ER-negative breast cancer cell invasion and metastasis by accelerating Twist1 degradation.Molecular Analysis of Twist1 and FGF Receptors in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of OriginUltra-high resolution array painting facilitates breakpoint sequencing.Inducible knockout of Twist1 in young and adult mice prolongs hair growth cycle and has mild effects on general health, supporting Twist1 as a preferential cancer targetMolecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal.Specific inactivation of Twist1 in the mandibular arch neural crest cells affects the development of the ramus and reveals interactions with hand2.Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.Genetic analysis of patients with the Saethre-Chotzen phenotype.Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.
P2860
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P2860
Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome
description
1997 nî lūn-bûn
@nan
1997 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Translocation breakpoint maps ...... with Saethre-Chotzen syndrome
@ast
Translocation breakpoint maps ...... with Saethre-Chotzen syndrome
@en
Translocation breakpoint maps ...... with Saethre-Chotzen syndrome
@nl
type
label
Translocation breakpoint maps ...... with Saethre-Chotzen syndrome
@ast
Translocation breakpoint maps ...... with Saethre-Chotzen syndrome
@en
Translocation breakpoint maps ...... with Saethre-Chotzen syndrome
@nl
prefLabel
Translocation breakpoint maps ...... with Saethre-Chotzen syndrome
@ast
Translocation breakpoint maps ...... with Saethre-Chotzen syndrome
@en
Translocation breakpoint maps ...... with Saethre-Chotzen syndrome
@nl
P2093
P356
P1476
Translocation breakpoint maps ...... with Saethre-Chotzen syndrome
@en
P2093
E M Füchtbauer
J M Rommens
K H Grzeschik
P304
P356
10.1093/HMG/6.7.1079
P407
P577
1997-07-01T00:00:00Z