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Mirror movements are involuntary contralateral movements that mirror voluntary ones and are often associated with defects in midline crossing of the developing central nervous system. We studied two large families, one French Canadian and one Iranian, in which isolated congenital mirror movements were inherited as an autosomal dominant trait. We found that affected individuals carried protein-truncating mutations in DCC (deleted in colorectal carcinoma), a gene on chromosome 18q21.2 that encodes a receptor for netrin-1, a diffusible protein that helps guide axon growth across the midline. Functional analysis of the mutant DCC protein from the French Canadian family revealed a defect in netrin-1 binding. Thus, DCC has an important role in lateralization of the human nervous system.

Titel:	Mutations in DCC cause congenital mirror movements.
Autor/in / Beteiligte Person:	Srour, M ; Rivière, JB ; Pham, JM ; Dubé, MP ; Girard, S ; Morin, S ; Dion, PA ; Asselin, G ; Rochefort, D ; Hince, P ; Diab, S ; Sharafaddinzadeh, N ; Chouinard, S ; Théoret, H ; Charron, F ; Rouleau, GA
Link:	Volltext (PDF)
Zeitschrift:	Science (New York, N.Y.), Jg. 328 (2010-04-30), Heft 5978, S. 592
Veröffentlichung:	<Oct. 4, 1991- > : Washington, DC : American Association for the Advancement of Science ; <i>Original Publication</i>: New York, N.Y. : [s.n.] 1880-, 2010
Medientyp:	academicJournal
ISSN:	1095-9203 (electronic)
DOI:	10.1126/science.1186463
Schlagwort:	Axons physiology Codon, Terminator DCC Receptor Female Functional Laterality Genes, Dominant Genome-Wide Association Study Haplotypes Humans Male Mutant Proteins chemistry Mutant Proteins metabolism Nerve Growth Factors metabolism Nervous System growth & development Netrin-1 Pedigree Protein Binding Receptors, Cell Surface chemistry Receptors, Cell Surface genetics Tumor Suppressor Proteins chemistry Tumor Suppressor Proteins genetics Dyskinesias congenital Dyskinesias genetics Frameshift Mutation Genes, DCC Receptors, Cell Surface metabolism Tumor Suppressor Proteins metabolism
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article Language: English [Science] 2010 Apr 30; Vol. 328 (5978), pp. 592. MeSH Terms: Frameshift Mutation* ; Genes, DCC* ; Dyskinesias / congenital ; Dyskinesias / genetics ; Receptors, Cell Surface / metabolism ; Tumor Suppressor Proteins / metabolism ; Axons / physiology ; Codon, Terminator ; DCC Receptor ; Female ; Functional Laterality ; Genes, Dominant ; Genome-Wide Association Study ; Haplotypes ; Humans ; Male ; Mutant Proteins / chemistry ; Mutant Proteins / metabolism ; Nerve Growth Factors / metabolism ; Nervous System / growth & development ; Netrin-1 ; Pedigree ; Protein Binding ; Receptors, Cell Surface / chemistry ; Receptors, Cell Surface / genetics ; Tumor Suppressor Proteins / chemistry ; Tumor Suppressor Proteins / genetics Substance Nomenclature: 0 (Codon, Terminator) ; 0 (DCC Receptor) ; 0 (DCC protein, human) ; 0 (Mutant Proteins) ; 0 (NTN1 protein, human) ; 0 (Nerve Growth Factors) ; 0 (Receptors, Cell Surface) ; 0 (Tumor Suppressor Proteins) ; 158651-98-0 (Netrin-1) Entry Date(s): Date Created: 20100501 Date Completed: 20100511 Latest Revision: 20171116 Update Code: 20231215

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Mutations in DCC cause congenital mirror movements.