About: Polymorphism screening of PIP5K2A: A candidate gene for chromosome 10p-linked psychiatric disorders

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About: Polymorphism screening of PIP5K2A: A candidate gene for chromosome 10p-linked psychiatric disorders Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Lithium is a potent noncompetitive inhibitor of inositol monophosphatases, enzymes involved in phosphoinositide (PI) and inositol phosphate metabolism. A critical component of the PI pathway is phosphatidylinositol 4,5-bisphosphate (Ptdlns(4,5)P-2), which is hydrolyzed to second messengers and has a direct role in synaptic vesicle function. Interestingly, a number of genes involved in the synthesis and dephosphorylation of Ptdlns(4,5)P-2 are found in regions of the genome previously mapped in bipolar disorder (BD) including 10p12, 21q22, and 22q11, among others. Some of these regions overlap with loci mapped in schizophrenia (SZ). One gene involved in PI metabolism that maps to a region of interest is 10p12-linked PIP5K2A, a member of the phosphatidylinositol 4-phosphate 5-kinase family. Polymorphism screening revealed the existence of an imperfect CT repeat polymorphism located near the exon 9-intron 9 splice donor site. A modest difference was found in the distribution of alleles from this highly po Lithium is a potent noncompetitive inhibitor of inositol monophosphatases, enzymes involved in phosphoinositide (PI) and inositol phosphate metabolism. A critical component of the PI pathway is phosphatidylinositol 4,5-bisphosphate (Ptdlns(4,5)P-2), which is hydrolyzed to second messengers and has a direct role in synaptic vesicle function. Interestingly, a number of genes involved in the synthesis and dephosphorylation of Ptdlns(4,5)P-2 are found in regions of the genome previously mapped in bipolar disorder (BD) including 10p12, 21q22, and 22q11, among others. Some of these regions overlap with loci mapped in schizophrenia (SZ). One gene involved in PI metabolism that maps to a region of interest is 10p12-linked PIP5K2A, a member of the phosphatidylinositol 4-phosphate 5-kinase family. Polymorphism screening revealed the existence of an imperfect CT repeat polymorphism located near the exon 9-intron 9 splice donor site. A modest difference was found in the distribution of alleles from this highly po (en)
Title	Polymorphism screening of PIP5K2A: A candidate gene for chromosome 10p-linked psychiatric disorders Polymorphism screening of PIP5K2A: A candidate gene for chromosome 10p-linked psychiatric disorders (en)
skos:prefLabel	Polymorphism screening of PIP5K2A: A candidate gene for chromosome 10p-linked psychiatric disorders Polymorphism screening of PIP5K2A: A candidate gene for chromosome 10p-linked psychiatric disorders (en)
skos:notation	RIV/00023752:_____/03:00000296!RIV/2004/MSM/L28004/N
http://linked.open.../vavai/riv/strany	50-58
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM 111100001)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2004
http://linked.open...aciTvurceVysledku	Stopková, Pavla
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Národní ústav duševního zdraví
http://linked.open...dnocenehoVysledku	621551
http://linked.open...ai/riv/idVysledku	RIV/00023752:_____/03:00000296
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	candidate gene; PIP2; synaptic vesicle; exocytosis; endocytosis (en)
http://linked.open.../riv/klicoveSlovo	candidate gene exocytosis endocytosis PIP2 synaptic vesicle
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[F8151A6628A3]
http://linked.open...i/riv/nazevZdroje	American Journal of Medical Genetics. Part B-Neuropsychiatric Genetics
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (xsd:int)
http://linked.open...ocetUcastnikuAkce	0 (xsd:int)
http://linked.open...nichUcastnikuAkce	0 (xsd:int)
http://linked.open...UplatneniVysledku	2003
http://linked.open...v/svazekPeriodika	123B
http://linked.open...iv/tvurceVysledku	Stopková, Pavla Paclt, I. Saito, T. Lachman, H. M. Žukov, I. Vevera, J. Fann, C. S. J. Papolos, D. F. Strous, R. D. Stryjer, R.
http://linked.open...n/vavai/riv/zamer	http://linked.opendata.cz/resource/domain/vavai/zamer/MSM%20111100001
issn	0148-7299
number of pages	9 (xsd:int)

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