Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Haploinsufficiency> ?p ?o }
Showing triples 1 to 68 of
68
with 100 triples per page.
- Haploinsufficiency abstract "Haploinsufficiency occurs when a diploid organism has only a single functional copy of a gene (with the other copy inactivated by mutation) and the single functional copy does not produce enough of a gene product (typically a protein) to bring about a wild-type condition, leading to an abnormal or diseased state. It is responsible for some but not all autosomal dominant disorders.Haplosufficiency is the opposite case: when a diploid organism has only a single functional copy of a gene (with the other copy inactivated by mutation) and the single functional copy produces enough of a gene product (typically a protein) to bring about a wild-type condition.The wild-type allele (i.e. version) of a haplosufficient gene is dominant over the mutant allele, since a heterozygote (with one mutant and one normal allele) displays the normal wild-type phenotype (i.e. is not diseased). On the other hand, the wild-type allele of a haploinsufficient gene is recessive to the mutant allele, since a heterozygote (with one mutant and one normal allele) displays the mutant (disease) phenotype. It is also possible that the heterozygote will display a third phenotype (such as diseased but of lesser severity) and in that case, the mutant allele is incompletely dominant to the recessive wild-type allele.".
- Haploinsufficiency wikiPageID "1929037".
- Haploinsufficiency wikiPageLength "6208".
- Haploinsufficiency wikiPageOutDegree "39".
- Haploinsufficiency wikiPageRevisionID "674267498".
- Haploinsufficiency wikiPageWikiLink 1q21.1_deletion_syndrome.
- Haploinsufficiency wikiPageWikiLink 22q13_deletion_syndrome.
- Haploinsufficiency wikiPageWikiLink Allele.
- Haploinsufficiency wikiPageWikiLink Aortic_stenosis.
- Haploinsufficiency wikiPageWikiLink Autosomal_dominant.
- Haploinsufficiency wikiPageWikiLink Bone_marrow_failure.
- Haploinsufficiency wikiPageWikiLink Cancer.
- Haploinsufficiency wikiPageWikiLink Category:Genetics.
- Haploinsufficiency wikiPageWikiLink Cleidocranial_dysostosis.
- Haploinsufficiency wikiPageWikiLink Copy-number_variation.
- Haploinsufficiency wikiPageWikiLink Diploid.
- Haploinsufficiency wikiPageWikiLink Dominance_(genetics).
- Haploinsufficiency wikiPageWikiLink Dyskeratosis_congenita.
- Haploinsufficiency wikiPageWikiLink ELN_(gene).
- Haploinsufficiency wikiPageWikiLink Ehlers-Danlos_syndrome.
- Haploinsufficiency wikiPageWikiLink Ehlers–Danlos_syndrome.
- Haploinsufficiency wikiPageWikiLink Elastin.
- Haploinsufficiency wikiPageWikiLink Expressivity_(genetics).
- Haploinsufficiency wikiPageWikiLink Frontotemporal_dementia.
- Haploinsufficiency wikiPageWikiLink Gene.
- Haploinsufficiency wikiPageWikiLink Gene_product.
- Haploinsufficiency wikiPageWikiLink Granulin.
- Haploinsufficiency wikiPageWikiLink Heterozygous.
- Haploinsufficiency wikiPageWikiLink Holt–Oram_syndrome.
- Haploinsufficiency wikiPageWikiLink Marfan_syndrome.
- Haploinsufficiency wikiPageWikiLink Mutation.
- Haploinsufficiency wikiPageWikiLink Myelodysplastic_syndrome.
- Haploinsufficiency wikiPageWikiLink Non-allelic_homologous_recombination.
- Haploinsufficiency wikiPageWikiLink Non_allelic_homologous_recombination.
- Haploinsufficiency wikiPageWikiLink Null_allele.
- Haploinsufficiency wikiPageWikiLink Null_mutation.
- Haploinsufficiency wikiPageWikiLink Organism.
- Haploinsufficiency wikiPageWikiLink PRPF31.
- Haploinsufficiency wikiPageWikiLink Phelan-McDermid_syndrome.
- Haploinsufficiency wikiPageWikiLink Phenotype.
- Haploinsufficiency wikiPageWikiLink Ploidy.
- Haploinsufficiency wikiPageWikiLink Polydactyly.
- Haploinsufficiency wikiPageWikiLink Progranulin.
- Haploinsufficiency wikiPageWikiLink Protein.
- Haploinsufficiency wikiPageWikiLink Pulmonary_fibrosis.
- Haploinsufficiency wikiPageWikiLink Retinitis_pigmentosa.
- Haploinsufficiency wikiPageWikiLink Telomerase_reverse_transcriptase.
- Haploinsufficiency wikiPageWikiLink Wild-type.
- Haploinsufficiency wikiPageWikiLink Wild_type.
- Haploinsufficiency wikiPageWikiLink Williams_syndrome.
- Haploinsufficiency wikiPageWikiLink Zygosity.
- Haploinsufficiency wikiPageWikiLinkText "Haploinsufficiency".
- Haploinsufficiency wikiPageWikiLinkText "haploinsufficiency".
- Haploinsufficiency wikiPageWikiLinkText "haploinsufficient".
- Haploinsufficiency wikiPageWikiLinkText "inadequate production".
- Haploinsufficiency hasPhotoCollection Haploinsufficiency.
- Haploinsufficiency subject Category:Genetics.
- Haploinsufficiency comment "Haploinsufficiency occurs when a diploid organism has only a single functional copy of a gene (with the other copy inactivated by mutation) and the single functional copy does not produce enough of a gene product (typically a protein) to bring about a wild-type condition, leading to an abnormal or diseased state.".
- Haploinsufficiency label "Haploinsufficiency".
- Haploinsufficiency sameAs Haploinsuffizienz.
- Haploinsufficiency sameAs Haploid_elégtelenség.
- Haploinsufficiency sameAs Haploinsufisiensi.
- Haploinsufficiency sameAs Haploinsuficjencja.
- Haploinsufficiency sameAs m.066vzg.
- Haploinsufficiency sameAs Q852654.
- Haploinsufficiency sameAs Q852654.
- Haploinsufficiency wasDerivedFrom Haploinsufficiency?oldid=674267498.
- Haploinsufficiency isPrimaryTopicOf Haploinsufficiency.