Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 (Q24315050)

embryonic cranial skeleton morphogenesis

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

E W Jabs

1

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X Li

2

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A F Scott

3

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G Meyers

4

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W Chen

5

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M Eccles

6

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J I Mao

7

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L R Charnas

8

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C E Jackson

9

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M Jaye

https://scigraph.springernature.com/pub.10.1038/ng1194-275

10

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language of work or name

English

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publication date

November 1994

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published in

Nature Genetics

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volume

8

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issue

3

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page(s)

275-9

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exact match

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cites work

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

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

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The heparin-binding (fibroblast) growth factor family of proteins

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Molecular cloning of a novel cytokine cDNA encoding the ninth member of the fibroblast growth factor family, which has a unique secretion property

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Fibroblast growth factor receptor tyrosine kinases: molecular analysis and signal transduction

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

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Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26

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

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Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

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Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred

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

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A novel form of FGF receptor-3 using an alternative exon in the immunoglobulin domain III

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Signal transduction by receptors with tyrosine kinase activity

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

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Fluorescence detection in automated DNA sequence analysis.

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