(Q51919647)

English

Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia.

scientific article published in January 2010

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scholarly article

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

1 reference

Europe PubMed Central

Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. (English)

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

thanatophoric dysplasia

1 reference

based on heuristic

inferred from title

Eva Bermejo-sanchez

3

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

author name string

María Luisa Martínez-Frías

1

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

Cristina A de Frutos

2

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

M Angela Nieto

4

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

ECEMC Working Group

5

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

language of work or name

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publication date

1 January 2010

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

American Journal of Medical Genetics

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Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

152A

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Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

1

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Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

245-255

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Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Suppressors of cytokine signaling (SOCS) 1 and SOCS3 interact with and modulate fibroblast growth factor receptor signaling

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Diversity in function and regulation of MAP kinase pathways

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Fibroblast growth factor receptor 3 induces gene expression primarily through Ras-independent signal transduction pathways.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Some chondrodysplasias with short limbs: molecular perspectives

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Snail1 is a transcriptional effector of FGFR3 signaling during chondrogenesis and achondroplasias

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Cellular signaling by fibroblast growth factor receptors

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Growth hormone therapy in achondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries: an international feasibility study.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Signal transduction pathway of human fibroblast growth factor receptor 3. Identification of a novel 66-kDa phosphoprotein

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Present status of the use of growth hormone in short children with bone diseases (diseases of the skeleton).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Cell responses to FGFR3 signalling: growth, differentiation and apoptosis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Achondroplasia: clinical radiologic features with comment on genetic implications

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

The kinase activity of fibroblast growth factor receptor 3 with activation loop mutations affects receptor trafficking and signaling

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

K644E/M FGFR3 mutants activate Erk1/2 from the endoplasmic reticulum through FRS2 alpha and PLC gamma-independent pathways

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Prevalence of dominant mutations in Spain: effect of changes in maternal age distribution

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Thanatophoric dysplasia: an autosomal dominant condition?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Up-regulation of the chondrogenic Sox9 gene by fibroblast growth factors is mediated by the mitogen-activated protein kinase pathway

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

The snail superfamily of zinc-finger transcription factors

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Thanatophoric dysplasia of the straight-bone type (type 2)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Thanatophoric dysplasia caused by double missense FGFR3 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Genomic organization of the human fibroblast growth factor receptor 3 (FGFR3) gene and comparative sequence analysis with the mouse Fgfr3 gene.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Human combinatorial Fab library yielding specific and functional antibodies against the human fibroblast growth factor receptor 3.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

p38 MAP kinase signalling is required for hypertrophic chondrocyte differentiation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypothalamic-pituitary function, and genotype.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Human growth hormone treatment in prepubertal children with achondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

The achondroplasia mutation does not alter the dimerization energetics of the fibroblast growth factor receptor 3 transmembrane domain.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Constitutive activation of MKK6 in chondrocytes of transgenic mice inhibits proliferation and delays endochondral bone formation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33188

21 January 2018

Identifiers

10.1002/AJMG.A.33188

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/20034074

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