Functional analysis of natural mutations in two TWIST protein motifs.

Functional analysis of natural mutations in two TWIST protein motifs.

The basic helix-loop-helix protein Twist, a transcriptional repressor, is essential for embryogenesis in both invertebrates and vertebrates. Haploinsufficiency of the human TWIST1 gene, which causes the craniosynostosis disorder Saethre-Chotzen syndrome (SCS), is related to failure to repress transc...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	Funato, N, Twigg, SR, Higashihori, N, Ohyama, K, Wall, SA, Wilkie, A, Nakamura, M
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2005

Antzeko izenburuak

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome
nork: Zhou, Y, et al.
Argitaratua: (2018)

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
nork: Twigg, SR, et al.
Argitaratua: (2004)

Evolution of the Twist Subfamily Vertebrate Proteins: Discovery of a Signature Motif and Origin of the Twist1 Glycine-Rich Motifs in the Amino-Terminus Disordered Domain.
nork: Yacidzohara Rodriguez, et al.
Argitaratua: (2016-01-01)

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
nork: Vasudevan, P, et al.
Argitaratua: (2006)

Correction: Evolution of the Twist Subfamily Vertebrate Proteins: Discovery of a Signature Motif and Origin of the Twist1 Glycine-Rich Motifs in the Amino-Terminus Disordered Domain.
nork: Yacidzohara Rodriguez, et al.
Argitaratua: (2016-01-01)

Hearing loss in a mouse model of Muenke syndrome.
nork: Mansour, S, et al.
Argitaratua: (2009)

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
nork: Hamilton, M, et al.
Argitaratua: (2017)

Intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome
nork: Woods, R, et al.
Argitaratua: (2009)

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
nork: Sharma, V, et al.
Argitaratua: (2013)

Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link.
nork: Hansen, R, et al.
Argitaratua: (2005)

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).
nork: Kan, R, et al.
Argitaratua: (2004)

Composite structural motifs of binding sites for delineating biological functions of proteins.
nork: Akira R Kinjo, et al.
Argitaratua: (2012-01-01)

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
nork: Woods, R, et al.
Argitaratua: (2009)

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in C. elegans
nork: Kim, S, et al.
Argitaratua: (2017)

FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
nork: Thomas, G, et al.
Argitaratua: (2005)

Identification of DNA Motif with Mutation
nork: Shu, Jian-Jun
Argitaratua: (2015)

Two mutations in the HR2 region of Newcastle disease virus fusion protein with a cleavage motif “RRQRRL” are critical for fusogenic activity
nork: Yanhong Wang, et al.
Argitaratua: (2017-09-01)

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
nork: Babbs, C, et al.
Argitaratua: (2014)

Language development, hearing loss, and intracranial hypertension in children with TWIST1-confirmed Saethre-Chotzen syndrome
nork: Kilcoyne, S, et al.
Argitaratua: (2019)

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
nork: van den Elzen, M, et al.
Argitaratua: (2014)

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
nork: Kan, S, et al.
Argitaratua: (2002)

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
nork: Twigg, SR, et al.
Argitaratua: (2012)

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
nork: Wilkie, A, et al.
Argitaratua: (2010)

Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.
nork: Sharma, V, et al.
Argitaratua: (2012)

A new twist in measuring mutation rates
nork: Bartram L Smith, et al.
Argitaratua: (2017-07-01)

New insights into craniofacial malformations.
nork: Twigg, S, et al.
Argitaratua: (2015)

A genetic-pathophysiological framework for craniosynostosis
nork: Twigg, S, et al.
Argitaratua: (2015)

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
nork: Twigg, SR, et al.
Argitaratua: (2006)

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia.
nork: Goriely, A, et al.
Argitaratua: (2005)

Review of recurrently mutated genes in craniosynostosis supports expansion of diagnostic gene panels
nork: Tooze, RS, et al.
Argitaratua: (2023)

Protein Corona, with a Twist
nork: Gun Su Han, et al.
Argitaratua: (2019-12-01)

Two Bubbles – But with a Twist
nork: Lalit Parida, et al.
Argitaratua: (2024-04-01)

Two Bubbles – But with a Twist
nork: Lalit Parida, et al.
Argitaratua: (2024-08-01)

Spirocyclic Motifs in Natural Products
nork: Evgeny Chupakhin, et al.
Argitaratua: (2019-11-01)

YMDD motif mutation after lamivudine therapy
nork: Jazayeri Seyed, et al.
Argitaratua: (2011-01-01)

Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.
nork: Brown, J, et al.
Argitaratua: (2005)

Automatic annotation of protein motif function with Gene Ontology terms
nork: Gopalakrishnan Vanathi, et al.
Argitaratua: (2004-09-01)

An interaction-motif-based scoring function for protein-ligand docking
nork: Xie Zhong-Ru, et al.
Argitaratua: (2010-06-01)

DATABASE OF TWO-HELICAL MOTIFS OF PROTEIN MOLECULES AND COMPUTER SERVICES FOR THEIR ANALYSIS
nork: Владимир Руднев, et al.
Argitaratua: (2019-11-01)

Functional network motifs defined through integration of protein-protein and genetic interactions
nork: Amruta Sahoo, et al.
Argitaratua: (2022-02-01)