About: haploinsufficiency

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mechanism of action to explain a phenotype when a diploid organism has lost one copy of a gene

Attributes	Values
rdf:type	Item
owl:sameAs	haploinsufficiency
description	mechanism of action to explain a phenotype when a diploid organism has lost one copy of a gene (en)
rdfs:label	Haploinsuffizienz (de) Haploinsuficijencija (bs) Haploinsuficjencja (pl) Haploinsufisiensi (id) aploinsufficienza (it) haploid elégtelenség (hu) haploinsufficiency (en) haploinsuffisance (fr) haploinsuffisiens (nn) haploinsuficiencia (es) Хаплоинсуфициенција (mk) ハプロ不全 (ja) 單一等位基因不足性 (zh)
skos:prefLabel	Haploinsuffizienz (de) Haploinsuficijencija (bs) Haploinsuficjencja (pl) Haploinsufisiensi (id) aploinsufficienza (it) haploid elégtelenség (hu) haploinsufficiency (en) haploinsuffisance (fr) haploinsuffisiens (nn) haploinsuficiencia (es) Хаплоинсуфициенција (mk) ハプロ不全 (ja) 單一等位基因不足性 (zh)
name	Haploinsuffizienz (de) Haploinsuficijencija (bs) Haploinsuficjencja (pl) Haploinsufisiensi (id) aploinsufficienza (it) haploid elégtelenség (hu) haploinsufficiency (en) haploinsuffisance (fr) haploinsuffisiens (nn) haploinsuficiencia (es) Хаплоинсуфициенција (mk) ハプロ不全 (ja) 單一等位基因不足性 (zh)
Freebase ID	wds:Q852654-A59059E8-F96A-4B20-8982-614D6EDA75B8
Freebase ID	/m/066vzg
Commons category	wds:Q852654-611A8C7F-B7D3-4DD6-B512-8A9C5A0A141F
Commons category	Haploinsufficiency
skos:altLabel	haploid-elégtelenség (hu) haploinszufficiencia (hu) 單套缺失 (zh)
OpenAlex ID	wds:Q852654-145291ED-49CA-4B2B-A53A-0106807C1F86
NALT ID	wds:Q852654-3190C709-B6E6-4040-B209-A51A08FEA33C
UMLS CUI	wds:Q852654-BB8FE5B0-B812-4AA3-B361-DD6F2A04890D
JSTOR topic ID	wds:Q852654-8D205A24-2BB1-4603-A134-6989F9CB558C
MeSH descriptor ID	wds:Q852654-1E0A9CF4-38FD-49A4-8C32-D6726800DB3A
Microsoft Academic ID	wds:Q852654-BBECFF22-998D-4E76-8E89-19944F638BAE
DeCS ID	wds:Q852654-A047188E-95F0-43D3-B0E8-B4554400DEAD
NALT ID	https://lod.nal.usda.gov/nalt/324466
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D057895
Microsoft Academic ID	https://makg.org/entity/68838962
OpenAlex ID	C68838962
NALT ID	324466
UMLS CUI	C2936267
JSTOR topic ID	haploinsufficiency
MeSH descriptor ID	D057895
Microsoft Academic ID	68838962
DeCS ID	54332
NCI Dictionary of Genetics Terms entry	wds:Q852654-f2ce9c59-4893-7c06-d6f9-ea4053adac97
NCI Dictionary of Genetics Terms entry	haploinsufficiency
is about of	haploinsufficiency https://pl.wikipedia.org/wiki/Haploinsuficjencja https://www.wikidata.org/wiki/Special:EntityData/Q852654 Haploinsufficiency https://de.wikipedia.org/wiki/Haploinsuffizienz Category:Haploinsufficiency https://it.wikipedia.org/wiki/Aploinsufficienza https://bs.wikipedia.org/wiki/Haploinsuficijencija https://hu.wikipedia.org/wiki/Haploid_el%C3%A9gtelens%C3%A9g https://id.wikipedia.org/wiki/Haploinsufisiensi https://mk.wikipedia.org/wiki/%D0%A5%D0%B0%D0%BF%D0%BB%D0%BE%D0%B8%D0%BD%D1%81%D1%83%D1%84%D0%B8%D1%86%D0%B8%D0%B5%D0%BD%D1%86%D0%B8%D1%98%D0%B0
is main subject of	Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx4 PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Haploinsufficiency and the sex chromosomes from yeasts to humans. Genetic analysis of Pten and Tsc2 functional interactions in the mouse reveals asymmetrical haploinsufficiency in tumor suppression Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma Down syndrome as a model of DNA polymerase beta haploinsufficiency and accelerated aging MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations Imbalanced base excision repair in response to folate deficiency is accelerated by polymerase beta haploinsufficiency Haploinsufficiency in DNA polymerase beta increases cancer risk with age and alters mortality rate. Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1 MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Reelin haploinsufficiency reduces the density of PV+ neurons in circumscribed regions of the striatum and selectively alters striatal-based behaviors Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease. Dicer1 functions as a haploinsufficient tumor suppressor Ischemia-reperfusion injury and cardioprotection: investigating PTEN, the phosphatase that negatively regulates PI3K, using a congenital model of PTEN haploinsufficiency Haploinsufficiency for tumor suppression: the hazards of being single and living a long time CBP loss cooperates with PTEN haploinsufficiency to drive prostate cancer: implications for epigenetic therapy. BRCA1 deficiency induces protective autophagy to mitigate stress and provides a mechanism for BRCA1 haploinsufficiency in tumorigenesis. The ribosomal protein gene RPL5 is a haploinsufficient tumor suppressor in multiple cancer types. Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function.

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