Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains (Q42609875)

3 November 2017

title

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains (English)

1 reference

3 November 2017

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14519685

16 March 2024

genetic polymorphism

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14519685

16 March 2024

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16 March 2024

9

Guy A Rouleau

1 reference

3 November 2017

10

Bernard Brais

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Hugo Lavoie

1

object named as

Hugo Lavoie

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14519685

16 March 2024

6

Marie-Josée Dicaire

1 reference

Louis-Philippe Corbeil-Girard

3 November 2017

5

object named as

Louis-Philippe Corbeil-Girard

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3 November 2017

7

Anik Saint-Denis

1 reference

3 November 2017

Francois Debeane

2

1 reference

3 November 2017

Quoc-Dien Trinh

3

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3 November 2017

Jean-Francois Turcotte

4

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3 November 2017

Martin Pagé

8

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3 November 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14519685

16 March 2024

publication date

30 September 2003

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3 November 2017

published in

Human Molecular Genetics

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3 November 2017

volume

12

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3 November 2017

issue

22

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3 November 2017

page(s)

2967-2979

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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

3 November 2017

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Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

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Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

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A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

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Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

21 January 2018

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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

21 January 2018

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Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

21 January 2018

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Triplet repeat polymorphism in the transmembrane region of the MICA gene: a strong association of six GCT repetitions with Behçet disease

21 January 2018

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An in-frame trinucleotide repeat in the coding region of the human cellular glutathione peroxidase (GPX1) gene: in vivo polymorphism and in vitro instability

21 January 2018

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hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6

21 January 2018

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Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis

21 January 2018

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A soluble transcription factor, Oct-1, is also found in the insoluble nuclear matrix and possesses silencing activity in its alanine-rich domain

21 January 2018

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Drosophila Krüppel protein is a transcriptional repressor.

21 January 2018

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Selective repression of transcriptional activators at a distance by the Drosophila Krüppel protein

21 January 2018

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Mapping and mutagenesis of the amino-terminal transcriptional repression domain of the Drosophila Krüppel protein

21 January 2018

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Transcriptional repression by the Drosophila even-skipped protein: definition of a minimal repression domain

21 January 2018

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Cell-specific action and mutable structure of a transcription factor effector domain.

21 January 2018

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Molecular orientation and two-component nature of the crystalline fraction of spider dragline silk.

21 January 2018

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Structures of mollusc shell framework proteins

21 January 2018

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Tough tendons. Mussel byssus has collagen with silk-like domains.

21 January 2018

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Solvent effects on the energy landscapes and folding kinetics of polyalanine

21 January 2018

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Formation of an extremely stable polyalanine beta-sheet macromolecule

21 January 2018

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Physical reasons for the unusual alpha-helix stabilization afforded by charged or neutral polar residues in alanine-rich peptides

21 January 2018

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Polyalanine-based peptides as models for self-associated beta-pleated-sheet complexes

21 January 2018

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Class III POU genes: generation of homopolymeric amino acid repeats under GC pressure in mammals

21 January 2018

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Evolution of N-terminal sequences of the vertebrate HOXA13 protein

21 January 2018

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The Drosophila poly(A)-binding protein II is ubiquitous throughout Drosophila development and has the same function in mRNA polyadenylation as its bovine homolog in vitro

21 January 2018

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Extreme diversity, conservation, and convergence of spider silk fibroin sequences

21 January 2018

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Database resources of the National Center for Biotechnology

21 January 2018

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Codon usage tabulated from international DNA sequence databases: status for the year 2000

21 January 2018

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Initial sequencing and analysis of the human genome

21 January 2018

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Open-reading-frame sequence tags (OSTs) support the existence of at least 17,300 genes in C. elegans

21 January 2018

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Homology-based annotation yields 1,042 new candidate genes in the Drosophila melanogaster genome

21 January 2018

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Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence

21 January 2018

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Analysis of expressed sequence tags indicates 35,000 human genes

21 January 2018

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Molecular evolution of the homeodomain family of transcription factors

21 January 2018

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Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

21 January 2018

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Did homeodomain proteins duplicate before the origin of angiosperms, fungi, and metazoa?

21 January 2018

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Vertebrate genomics: More fishy tales about Hox genes.

21 January 2018

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21 January 2018

Evolution of Hox genes

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The evolution of the Hox cluster: insights from outgroups

21 January 2018

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21 January 2018

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Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families

21 January 2018

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Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

21 January 2018

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Synpolydactyly in mice with a targeted deficiency in the HoxD complex

21 January 2018

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Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.

21 January 2018

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Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13

21 January 2018

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Trinucleotide repeats associated with human disease

21 January 2018

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CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro

21 January 2018

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The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure

21 January 2018

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Solution structures of the individual single strands of the fragile X DNA triplets (GCC)n.(GGC)n

21 January 2018

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Tandem repeats in protein coding regions of primate genes

21 January 2018

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A transcriptional repressor obtained by alternative translation of a trinucleotide repeat

21 January 2018

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Mapping the transactivation domain of the Oct-6 POU transcription factor

21 January 2018

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Convergent evolution of antifreeze glycoproteins in Antarctic notothenioid fish and Arctic cod

21 January 2018

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Conservation of structure and cold-regulation of RNA-binding proteins in cyanobacteria: probable convergent evolution with eukaryotic glycine-rich RNA-binding proteins

21 January 2018

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Cooperative interaction between GATA-4 and GATA-6 regulates myocardial gene expression

21 January 2018

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Association with the nuclear matrix and interaction with Groucho and RUNX proteins regulate the transcription repression activity of the basic helix loop helix factor Hes1

21 January 2018

1 reference

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Groucho acts as a corepressor for a subset of negative regulators, including Hairy and Engrailed

21 January 2018

1 reference

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Two distinct types of repression domain in engrailed: one interacts with the groucho corepressor and is preferentially active on integrated target genes

21 January 2018

1 reference

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Groucho-mediated transcriptional repression establishes progenitor cell pattern and neuronal fate in the ventral neural tube

21 January 2018

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A homeodomain protein code specifies progenitor cell identity and neuronal fate in the ventral neural tube

21 January 2018

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Groucho-dependent and -independent repression activities of Runt domain proteins

21 January 2018

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Molecular interaction between TLE1 and the carboxyl-terminal domain of HES-1 containing the WRPW motif

21 January 2018

1 reference

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Groucho/transducin-like enhancer of split (TLE) family members interact with the yeast transcriptional co-repressor SSN6 and mammalian SSN6-related proteins: implications for evolutionary conservation of transcription repression mechanisms

21 January 2018

1 reference

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Transducin-like Enhancer of split 2, a mammalian homologue of Drosophila Groucho, acts as a transcriptional repressor, interacts with Hairy/Enhancer of split proteins, and is expressed during neuronal development

21 January 2018

1 reference

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The basic helix-loop-helix transcription factors dHAND and eHAND exhibit dimerization characteristics that suggest complex regulation of function

21 January 2018

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Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

21 January 2018

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Clustering of highly homologous sequences to reduce the size of large protein databases

21 January 2018

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21 January 2018

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WormBase: a cross-species database for comparative genomics

21 January 2018

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Conservation of polyglutamine tract size between mice and humans depends on codon interruption

21 January 2018

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SOURCE: a unified genomic resource of functional annotations, ontologies, and gene expression data

21 January 2018

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Betaine improves the PCR amplification of GC-rich DNA sequences

21 January 2018

1 reference

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The Gene Ontology Annotation (GOA) project: implementation of GO in SWISS-PROT, TrEMBL, and InterPro

21 January 2018

1 reference

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Creating the gene ontology resource: design and implementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG329

Improving the accuracy of PSI-BLAST protein database searches with composition-based statistics and other refinements

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG329

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG329

Taking variation of evolutionary rates between sites into account in inferring phylogenies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG329

Weighted neighbor joining: a likelihood-based approach to distance-based phylogeny reconstruction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG329

Trinucleotide repeat length variation in the human ribosomal protein L14 gene (RPL14): localization to 3p21.3 and loss of heterozygosity in lung and oral cancers

21 January 2018

15

1 reference

Early evolutionary origin of major homeodomain sequence classes

16 March 2024

46

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The trinucleotide repeat sequence d(CGG)15 forms a heat-stable hairpin containing Gsyn. Ganti base pairs

16 March 2024

62

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CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

16 March 2024

83

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16 March 2024

Identifiers

DOI

10.1093/HMG/DDG329

1 reference

3 November 2017

1 reference