Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome (Q24310222)

embryonic cranial skeleton morphogenesis

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

W Reardon

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R M Winter

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P Rutland

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L J Pulleyn

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B M Jones

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S Malcolm

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

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language of work or name

English

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publication date

September 1994

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98-103

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cites work

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Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR2)

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Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p

20 April 2017

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A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.

21 January 2018

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Novel tyrosine kinase identified by phosphotyrosine antibody screening of cDNA libraries

21 January 2018

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The human fibroblast growth factor receptor genes: a common structural arrangement underlies the mechanisms for generating receptor forms that differ in their third immunoglobulin domain

21 January 2018

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

21 January 2018

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Control of BEK and K-SAM splice sites in alternative splicing of the fibroblast growth factor receptor 2 pre-mRNA.

21 January 2018

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Newly recognized autosomal dominant disorder with craniosynostosis

21 January 2018

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7 January 2021

Assignment of a gene locus involved in craniosynostosis to chromosome 5qter

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The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p

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Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.

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Saethre-Chotzen syndrome with familial translocation at chromosome 7p22

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7 January 2021

Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.

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7 January 2021

Purification and complementary DNA cloning of a receptor for basic fibroblast growth factor.

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Receptor for acidic fibroblast growth factor is related to the tyrosine kinase encoded by the fms-like gene (FLG).

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Two forms of the basic fibroblast growth factor receptor-like mRNA are expressed in the developing mouse brain

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A murine fibroblast growth factor (FGF) receptor expressed in CHO cells is activated by basic FGF and Kaposi FGF

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A distinctive family of embryonic protein-tyrosine kinase receptors

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Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3

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7 January 2021

Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene

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7 January 2021

Assignment by in situ hybridization of a fibroblast growth factor receptor gene to human chromosome band 10q26

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7 January 2021

BEK, a receptor for multiple members of the fibroblast growth factor (FGF) family, maps to human chromosome 10q25.3----q26

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7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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Thanatophoric dysplasia and cloverleaf skull

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A simple salting out procedure for extracting DNA from human nucleated cells

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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Strategies for multilocus linkage analysis in humans

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7 January 2021