Missense mutations of human homeoboxes: A review (Q34415477)

2 August 2017

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title

Missense mutations of human homeoboxes: A review (English)

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2 August 2017

2

Tell G

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2 August 2017

D'Elia AV

1

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2 August 2017

Paron I

3

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2 August 2017

Pellizzari L

4

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2 August 2017

Lonigro R

5

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2 August 2017

Damante G

6

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2 August 2017

publication date

1 November 2001

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2 August 2017

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2 August 2017

volume

18

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2 August 2017

issue

5

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2 August 2017

page(s)

361-374

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Pituitary dwarfism in the R271W Pit-1 gene mutation

2 August 2017

cites work

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Differential DNA-binding specificity of the engrailed homeodomain: the role of residue 50.

21 January 2018

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Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

21 January 2018

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A transcriptional activating region with two contrasting modes of protein interaction

21 January 2018

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Involvement of the HLXB9 homeobox gene in Currarino syndrome

21 January 2018

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Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

21 January 2018

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Determination of the nuclear magnetic resonance solution structure of an Antennapedia homeodomain-DNA complex

21 January 2018

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Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

21 January 2018

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A comparison of in vivo and in vitro DNA-binding specificities suggests a new model for homeoprotein DNA binding in Drosophila embryos

21 January 2018

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The DNA binding specificity of Ultrabithorax is modulated by cooperative interactions with extradenticle, another homeoprotein.

21 January 2018

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Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

21 January 2018

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Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

21 January 2018

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Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

21 January 2018

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21 January 2018

MetaHox gene clusters

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Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

21 January 2018

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Reprogrammable recognition codes in bicoid homeodomain-DNA interaction

21 January 2018

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Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

21 January 2018

1 reference

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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

21 January 2018

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Human Prop-1: cloning, mapping, genomic structure

21 January 2018

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Analysis of the solution structure of the homeodomain of rat thyroid transcription factor 1 by 1H-NMR spectroscopy and restrained molecular mechanics

21 January 2018

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In the TTF-1 homeodomain the contribution of several amino acids to DNA recognition depends on the bound sequence

21 January 2018

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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

21 January 2018

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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

21 January 2018

1 reference

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Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

21 January 2018

1 reference

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Homeo boxes in the study of development

21 January 2018

1 reference

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21 January 2018

1 reference

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Homeodomain-DNA recognition

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene

21 January 2018

1 reference

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A Genetic Model for Interaction of the Homeodomain Recognition Helix with DNA

21 January 2018

1 reference

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Specific DNA recognition and intersite spacing are critical for action of the bicoid morphogen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

The nuclear localization signal (NLS) of PDX-1 is part of the homeodomain and represents a novel type of NLS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution: a framework for understanding homeodomain-DNA interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Homeobox proteins as sequence-specific transcription factors

21 January 2018

1 reference

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Activity regulation of a Hox protein and a role for the homeodomain in inhibiting transcriptional activation

21 January 2018

1 reference

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Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

A new class of yeast transcriptional activators

21 January 2018

1 reference

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Paralogous Hox genes: function and regulation

21 January 2018

1 reference

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The homeobox gene Hesx1 is required in the anterior neural ectoderm for normal forebrain formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Mutation analysis of LMX1B gene in nail-patella syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

The homeodomain of PDX-1 mediates multiple protein-protein interactions in the formation of a transcriptional activation complex on the insulin promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Functional differences between HOX proteins conferred by two residues in the homeodomain N-terminal arm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

The virtuoso of versatility: POU proteins that flex to fit

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Molecular basis for the inhibition of Drosophila eye development by Antennapedia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Homeodomain determinants of major groove recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

21 January 2018

PAX6 mutations reviewed

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Transcriptional activation by recruitment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

The structure of the Antennapedia homeodomain determined by NMR spectroscopy in solution: comparison with prokaryotic repressors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Nuclear magnetic resonance solution structure of the fushi tarazu homeodomain from Drosophila and comparison with the Antennapedia homeodomain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Overexpression of HOXB3 in hematopoietic cells causes defective lymphoid development and progressive myeloproliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Functional specificity of the homeodomain protein fushi tarazu: the role of DNA-binding specificity in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Congenital heart disease caused by mutations in the transcription factor NKX2-5

21 January 2018

1 reference

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Sequence-specific recognition of double helical nucleic acids by proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene

21 January 2018

1 reference

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Early mouse development: lessons from gene targeting

21 January 2018

1 reference

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Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

21 January 2018

1 reference

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The mutational spectrum in Waardenburg syndrome.

21 January 2018

1 reference

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Overexpression of HOXA10 in murine hematopoietic cells perturbs both myeloid and lymphoid differentiation and leads to acute myeloid leukemia

21 January 2018

1 reference

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A single amino acid can determine the DNA binding specificity of homeodomain proteins.

21 January 2018

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Structure and function of transcriptional activation domains

21 January 2018

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The Three-dimensional Solution Structure of the NK-2 Homeodomain fromDrosophila

21 January 2018

1 reference

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Induced alpha helix in the VP16 activation domain upon binding to a human TAF

21 January 2018

1 reference

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Analysis of the mouse Splotch-delayed mutation indicates that the Pax-3 paired domain can influence homeodomain DNA-binding activity

21 January 2018

1 reference

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A human MSX1 homeodomain missense mutation causes selective tooth agenesis

21 January 2018

1 reference

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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

21 January 2018

1 reference

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Two homeo domain proteins bind with similar specificity to a wide range of DNA sites in Drosophila embryos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Crystal structure of a MAT alpha 2 homeodomain-operator complex suggests a general model for homeodomain-DNA interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Mutations in PROP1 cause familial combined pituitary hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding

21 January 2018

1 reference

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Recognition of multiple patterns of DNA sites by Drosophila homeodomain protein Bicoid

21 January 2018

1 reference

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Evidence for regulation of cartilage differentiation by the homeobox gene Hoxc-8.

21 January 2018

1 reference

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Specificity of HOX protein function depends on DNA-protein and protein-protein interactions, both mediated by the homeo domain

21 January 2018

1 reference

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Target selectivity of bicoid is dependent on nonconsensus site recognition and protein-protein interaction

21 January 2018

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Maintenance of functional equivalence during paralogous Hox gene evolution

21 January 2018

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Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency

21 January 2018

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7 January 2021

Hox proteins meet more partners

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

7 January 2021

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

7 January 2021

Structural and functional properties of the N transcriptional activation domain of thyroid transcription factor-1: similarities with the acidic activation domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

7 January 2021

A homeo domain protein lacking specific side chains of helix 3 can still bind DNA and direct transcriptional repression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1207

7 January 2021

Identifiers

DOI

10.1002/HUMU.1207

1 reference

2 August 2017

1 reference