Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation (Q37156177)

18 August 2017

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation (English)

1 reference

18 August 2017

6

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18 August 2017

7

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18 August 2017

Christina A Gurnett

1

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18 August 2017

Farhang Alaee

2

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18 August 2017

Lisa M Kruse

3

1 reference

18 August 2017

David M Desruisseau

4

1 reference

18 August 2017

Jacqueline T Hecht

5

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18 August 2017

Matthew B Dobbs

8

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18 August 2017

language of work or name

English

0 references

publication date

23 October 2008

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American Journal of Human Genetics

18 August 2017

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18 August 2017

83

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18 August 2017

5

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18 August 2017

616-622

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Parallel genetic origins of pelvic reduction in vertebrates

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Mutations in the human TBX4 gene cause small patella syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

The genetic basis for skeletal diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Patterning Systems—From One End of the Limb to the Other

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Establishment of vertebrate left-right asymmetry

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Identification of a dominant negative homeodomain mutation in Rieger syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Hindlimb patterning and mandible development require the Ptx1 gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

The transcription factor Pitx2 mediates situs-specific morphogenesis in response to left-right asymmetric signals

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Parametric and nonparametric linkage analysis: a unified multipoint approach

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

DNA specificity of the bicoid activator protein is determined by homeodomain recognition helix residue 9

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Club foot in the Maori: a genetic study of 50 kindreds

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Pitx2 participates in the late phase of the pathway controlling left-right asymmetry

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Pitx2 determines left-right asymmetry of internal organs in vertebrates.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Evidence of a role for T-box genes in the evolution of limb morphogenesis and the specification of forelimb/hindlimb identity

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Brief clinical report: unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonomacrocephaly with a note on "developmental resistance".

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Solution structure of the K50 class homeodomain PITX2 bound to DNA and implications for mutations that cause Rieger syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Pitx1 and Pitx2 are required for development of hindlimb buds.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668044

Genetic epidemiology study of idiopathic talipes equinovarus

3 September 2018

1 reference

12 December 2020

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36

1 reference

12 December 2020

FAMILY STUDIES AND THE CAUSE OF CONGENITAL CLUB FOOT. TALIPES EQUINOVARUS, TALIPES CALCANEO-VALGUS AND METATARSUS VARUS

1 reference

12 December 2020

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

1 reference

12 December 2020

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

12 December 2020

Parallel evolution of Pitx1 underlies pelvic reduction in Scottish threespine stickleback (Gasterosteus aculeatus)

1 reference

12 December 2020

Genetic and epidemiological studies of clubfoot in Hawaii. General and medical considerations

1 reference

12 December 2020

Genetic and Environmental Factors in the Etiology of Talipes Equinovarus

1 reference

12 December 2020

Autosomal dominant inheritance of tibial meromelia. Report of a kindred

1 reference

12 December 2020

Correlation of forelimb malformation asymmetries with visceral organ situs in the transgenic mouse insertional mutation, legless

1 reference

12 December 2020

10.1016/J.AJHG.2008.10.004

Identifiers

DOI

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

18950742

1 reference