About: Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

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About: Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в березні 1995 (uk) article scientifique publié en 1995 (fr) im März 1995 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57278667-CD0178A7-F0A4-4AA8-A754-36E5AD17E63E
publication date	1995-03-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57278667-74245BF4-D074-45F1-968A-119DB95E8500
language of work or name	English
exact match	wds:Q57278667-A6F8A17C-4A0B-4019-AC21-F2C65820BBCD
exact match	https://scigraph.springernature.com/pub.10.1038/ng0395-232
cites work	wds:Q57278667-06CDEEC7-5F8C-42C8-AF1E-053830AC59E1 wds:Q57278667-48502D60-3CC0-4965-8775-A0ADAF8DA377 wds:Q57278667-70D8FDA8-286B-444A-A318-AC27B0410C9F wds:Q57278667-79392645-3D36-405A-9E3A-CB342C1D8244
cites work	Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 Craniofacial syndromes: no such thing as a single gene disease
author name string	wds:Q57278667-1B53691A-CB7E-4A97-8D2A-E4A12DA52905 wds:Q57278667-7147A659-D4E2-444A-AA46-73F6B1CFC5AD wds:Q57278667-B20E845E-83F8-46F7-A611-6FA014A80D17
author name string	Xiang Li Reed E. Pyeritz Woo-Jin Park
rdfs:label	Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome (en) Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome (nl)
skos:prefLabel	Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome (en) Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome (nl)
name	Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome (en) Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome (nl)
author	wds:Q57278667-62780417-7089-41B7-AED0-F2CAD01693AC
author	Ethylin Wang Jabs
title	wds:Q57278667-6B455BEF-96FF-4B89-8D86-730B023A5F77
title	Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome (en)
page(s)	wds:Q57278667-ED0A2FA8-A524-4345-BB7F-64DE9A28003F
page(s)	232-233
instance of	wds:Q57278667-1709A3D7-14F6-4450-8D83-228B67608AB4
instance of	scholarly article
PubMed ID	wds:Q57278667-1C420332-1538-4DE8-8590-8FB95766B818
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7773284
PubMed ID	7773284
published in	wds:Q57278667-E3E3BBCD-B25E-463B-9431-235E19FD70C1
published in	Nature Genetics
issue	wds:Q57278667-E6A31BD9-4DD3-4670-A3BA-A2DD3A5F4468
volume	wds:Q57278667-CFE7A272-BEF5-4E50-9CD2-A5A69375B5C6
issue	3
volume	9
DOI	wds:Q57278667-CC43E423-69BA-4F75-9AB6-A74B1CF5FCB2
DOI	http://dx.doi.org/10.1038/NG0395-232
DOI	10.1038/NG0395-232
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57278667
is cites work of	Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome Fibroblast-growth-factor receptor mutations in human skeletal disorders Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain Elevated expression of activated forms of Neu/ErbB-2 and ErbB-3 are involved in the induction of mammary tumors in transgenic mice: implications for human breast cancer Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome Outline structures for the extracellular domains of the fibroblast growth factor receptors Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. How neutral are synonymous codon mutations? A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans Skeletal disorders associated with fibroblast growth factor receptor mutations Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes The heparan sulfate-fibroblast growth factor family: diversity of structure and function. Molecular genetics of craniosynostotic syndromes A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis. Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene The functional relevance of somatic synonymous mutations in melanoma and other cancers Analysis of the alternative splicing of an FGFR2 transcript due to a novel 5' splice site mutation (1084+1G>A): case report. An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome. Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome Fibroblast growth factor receptor-2 mutations in craniosynostosis Fibroblast growth factors, their receptors and receptor disorders
is cites work of	wds:Q33677764-704471F3-26E5-4E6A-BE81-8FA8EA067F14 wds:Q34289809-32DC21DB-E3E0-42B4-9F8B-73E774458A2C wds:Q41620072-77CABBD6-4E1D-447E-A5C4-F9E997DB2A8B wds:Q61806639-970D25EF-3681-4D89-84E8-B145F5651F45 wds:Q34538016-43810F15-93EA-4EAB-828F-839534C6010A wds:Q34400979-C01E6EBC-1ECA-4F9F-A2E3-80C33E3EDC63 wds:Q33680815-32EC993B-FB1B-4BD5-AB98-E44363DDB456 wds:Q53228472-40D5339F-40E5-44DA-BF10-EB61728183DD wds:Q41029798-A42871FB-E693-4E9F-B916-0CB6B6A26D13 wds:Q36805023-4CFE0214-1D8E-492D-964A-7754C05B99A9 wds:Q28138231-0D1F3E94-F8D1-4F9F-A416-C6F453F8EAD4 wds:Q28609659-484CC6F4-4B1D-4827-863D-91750BF3DE2A wds:Q39812803-7CF7463E-74AD-4A33-9D4E-D2524D3933D0 wds:Q40960541-1D88444C-32B9-484C-8736-A9DF2112B4AD wds:Q24524120-2D7EADB5-259D-4109-AFD9-C5D23BE1A294 wds:Q35881482-DF617DA5-8DD8-4375-B72E-921FDFD4E655 wds:Q41680432-DD8BD7D7-0721-4B8A-9B32-11F1B0DCE1CA wds:Q55036781-F388C9B5-3F64-4EB9-8158-4FCEC8E43C48 wds:Q73552939-4B342C28-8332-48F5-B215-AAAD5BA01A91

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