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Statements

Subject Item: dbr:Prader–Willi_syndrome
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:FGF3
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Muller's_morphs
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Mutation
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Subject Item: dbr:Noggin_(protein)
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Birt–Hogg–Dubé_syndrome
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Subject Item: dbr:Desmosome
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Subject Item: dbr:Allele
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Subject Item: dbr:Huntington's_disease
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Van_der_Woude_syndrome
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Index_of_genetics_articles
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Index_of_molecular_biology_articles
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:JAG1
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:SIM1
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Pseudopseudohypoparathyroidism
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Subject Item: dbr:Genetics_of_amyotrophic_lateral_sclerosis
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Zygosity
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Zinc_transporter_8
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Chromosome_5q_deletion_syndrome
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Chronic_myelomonocytic_leukemia
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Glossary_of_genetics
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Subject Item: dbr:Glossary_of_genetics_(0–L)
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Subject Item: dbr:Nager_acrofacial_dysostosis
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Subject Item: dbr:Otodental_syndrome
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Li_Gan
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Subject Item: dbr:Cleidocranial_dysostosis
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Subject Item: dbr:Emberger_syndrome
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Subject Item: dbr:Hailey–Hailey_disease
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Treacher_Collins_syndrome
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Subject Item: dbr:Tumor_suppressor_gene
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Subject Item: dbr:Pitt–Hopkins_syndrome
dbo:wikiPageWikiLink: dbr:Haploinsufficiency

Subject Item: dbr:Autosomal_dominant_polycystic_kidney_disease
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Subject Item: dbr:GATA2
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Subject Item: dbr:GATA2_deficiency
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Subject Item: dbr:GATA3
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Subject Item: dbr:Gap-43_protein
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Subject Item: dbr:HIRA
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Subject Item: dbr:Tenascin_X
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Subject Item: dbr:Achromatopsia
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Subject Item: dbr:40S_ribosomal_protein_S4,_X_isoform
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Subject Item: dbr:40S_ribosomal_protein_S4,_Y_isoform_1
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Subject Item: dbr:40S_ribosomal_protein_S4,_Y_isoform_2
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Subject Item: dbr:Darier's_disease
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Subject Item: dbr:Familial_hemiplegic_migraine
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Subject Item: dbr:Barakat_syndrome
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Subject Item: dbr:Carcinogenesis
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Subject Item: dbr:Chromosome_10
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Subject Item: dbr:Gonadal_dysgenesis
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Subject Item: dbr:Haploinsufficiency
rdfs:label: Haploinsufisiensi Haploinsuficjencja Haploinsuffizienz Haploinsufficiency
rdfs:comment: Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype. Haploinsufficiency may arise from a de novo or inherited loss-of-function mutation in the variant allele, such that it yields little or no gene product (often a protein). Although the other, standard allele still produces the standard amount of product, the total product is insufficient to produce the standard phenotype. This heterozygous genotype may result in a non- or sub-standard, deleterious, and (or) disease phenotype. Haploinsufficiency is the standard explanation for dominant deleterious alleles. Haploinsuffizienz ist ein Begriff aus der Genetik. Die Haploinsuffizienz bezeichnet ein diploides („doppeltes“) Gen, das im haploiden („einfachen“) Zustand nicht den normalen Phänotyp bewirken kann.Haploinsuffizienz ist ein Beispiel dafür, wie die Dominanz eines krankmachenden Allels zustande kommt. Im Gegensatz dazu erkranken bei rezessiv vererbten Krankheiten nur homozygote, also reinerbige, Genträger. Weitere Beispiele für menschliche Erbkrankheiten, die auf Haploinsuffizienz beruhen, sind: * Chondrodysplasie * Chorea Huntington * Lamb-Shaffer-Syndrom * Marfan-Syndrom * Polydactylie Haploinsuficjencja (ang. haploinsufficiency) – w genetyce, sytuacja, gdy jeden prawidłowy allel genu w diploidalnej komórce nie wystarcza, aby zapobiec chorobie spowodowanej mutacją z utratą funkcji drugiego allelu. Do chorób człowieka spowodowanych najprawdopodobniej haploinsuficjencją należą: * dysplazja obojczykowo-czaszkowa * zespół Turnera * pląsawica Huntingtona * polidaktylia * niektóre nowotwory * zespół Marfana. Haploinsufisiensi adalah keadaan yang terjadi ketika makhluk diploid hanya memiliki satu gen, dari dua, yang berfungsi baik. Pasangan gen lainnya dinonaktifkan oleh proses mutasi. Satu gen tersebut tidak dapat mencukupi pembuatan protein. Hal ini akan membuat suatu kelainan dan penyakit.
foaf:depiction: n17:Haploinsufficiency_graph_only.jpg
dcterms:subject: dbc:Genetics
dbo:wikiPageID: 1929037
dbo:wikiPageRevisionID: 1117991281
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owl:sameAs: dbpedia-de:Haploinsuffizienz n8:51YUT dbpedia-id:Haploinsufisiensi dbpedia-hu:Haploid_elégtelenség dbpedia-pl:Haploinsuficjencja freebase:m.066vzg n21:Haploinsuficijencija wikidata:Q852654
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dbo:thumbnail: n17:Haploinsufficiency_graph_only.jpg?width=300
dbo:abstract: Haploinsuficjencja (ang. haploinsufficiency) – w genetyce, sytuacja, gdy jeden prawidłowy allel genu w diploidalnej komórce nie wystarcza, aby zapobiec chorobie spowodowanej mutacją z utratą funkcji drugiego allelu. Do chorób człowieka spowodowanych najprawdopodobniej haploinsuficjencją należą: * dysplazja obojczykowo-czaszkowa * zespół Turnera * pląsawica Huntingtona * polidaktylia * niektóre nowotwory * zespół Marfana. Haploinsufisiensi adalah keadaan yang terjadi ketika makhluk diploid hanya memiliki satu gen, dari dua, yang berfungsi baik. Pasangan gen lainnya dinonaktifkan oleh proses mutasi. Satu gen tersebut tidak dapat mencukupi pembuatan protein. Hal ini akan membuat suatu kelainan dan penyakit. Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype. Haploinsufficiency may arise from a de novo or inherited loss-of-function mutation in the variant allele, such that it yields little or no gene product (often a protein). Although the other, standard allele still produces the standard amount of product, the total product is insufficient to produce the standard phenotype. This heterozygous genotype may result in a non- or sub-standard, deleterious, and (or) disease phenotype. Haploinsufficiency is the standard explanation for dominant deleterious alleles. In the alternative case of haplosufficiency, the loss-of-function allele behaves as above, but the single standard allele in the heterozygous genotype produces sufficient gene product to produce the same, standard phenotype as seen in the homozygote. Haplosufficiency accounts for the typical dominance of the “standard” allele over variant alleles, where the phenotypic identity of genotypes heterozygous and homozygous for the allele defines it as dominant, versus a variant phenotype produced only by the genotype homozygous for the alternative allele, which defines it as recessive. Haploinsuffizienz ist ein Begriff aus der Genetik. Die Haploinsuffizienz bezeichnet ein diploides („doppeltes“) Gen, das im haploiden („einfachen“) Zustand nicht den normalen Phänotyp bewirken kann.Haploinsuffizienz ist ein Beispiel dafür, wie die Dominanz eines krankmachenden Allels zustande kommt. Jeder diploide Organismus hat auf seinen homologen Chromosomen zwei Kopien eines Gens. Wenn die eine Kopie durch eine vererbte Mutation funktionsunfähig geworden ist, und die eine funktionierende Kopie des Gens nicht die Herstellung einer ausreichenden Menge des Genprodukts (normalerweise eines Proteins) bewirkt, so tritt die Erbkrankheit auf. Ein einzelnes mutiertes Allel reicht also aus, um die Krankheit auszuprägen, es erkranken auch heterozygote, also mischerbige, Träger der Erbkrankheit. Für Proteine, die im Organismus als Oligomere vorliegen, gilt, dass missense- oder nonsense-Mutationen auf einem Allel auftreten und zu inaktiven Oligomeren führen können. So wird die Funktionalität erhaltener Allele dramatisch herabgesetzt. Ein Beispiel ist das Tumorsuppressorgen p53, das (neben seiner Bedeutung für viele Tumoren) mit dem Li-Fraumeni-Syndrom verbunden ist. Auch begünstigen Mutanten auf einem Allel die gleiche Mutation auf dem zweiten Allel durch eine mitotische Rekombination oder durch ein copy choice bei der DNA-Replikation. Diese Varianten führen neben spontanen Mutationen zu einem Loss of heterozygosity und können zu Krebs führen. Zu nennen wäre beispielsweise das erbliche, bilaterale Retinoblastom oder die Familiäre adenomatöse Polyposis. Im Gegensatz dazu erkranken bei rezessiv vererbten Krankheiten nur homozygote, also reinerbige, Genträger. Weitere Beispiele für menschliche Erbkrankheiten, die auf Haploinsuffizienz beruhen, sind: * Chondrodysplasie * Chorea Huntington * Lamb-Shaffer-Syndrom * Marfan-Syndrom * Polydactylie
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Subject Item: dbr:Folliculin
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Subject Item: dbr:1q21.1_deletion_syndrome
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Subject Item: dbr:AGGF1
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Subject Item: dbr:Heritability_of_autism
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Subject Item: dbr:Hereditary_neuropathy_with_liability_to_pressure_palsy
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Subject Item: dbr:ZFPM2
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Subject Item: dbr:Reelin
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Subject Item: dbr:DiGeorge_syndrome
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Subject Item: dbr:Dominance_(genetics)
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Subject Item: dbr:Marfan_syndrome
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Subject Item: dbr:C9orf72
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Subject Item: dbr:CTLA-4
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Subject Item: dbr:ZTTK_syndrome
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Subject Item: dbr:Severe_congenital_neutropenia
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Subject Item: dbr:Myosin_binding_protein_C,_cardiac
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Subject Item: dbr:Maxillary_lateral_incisor_agenesis
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Subject Item: dbr:Williams_syndrome
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Subject Item: dbr:Neuroepigenetics
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Subject Item: dbr:Short-stature_homeobox_gene
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Subject Item: dbr:Expressivity_(genetics)
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Subject Item: dbr:IRF6
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Subject Item: dbr:Lymphedema
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Subject Item: dbr:MonoMAC
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Subject Item: dbr:Sensorineural_hearing_loss
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Subject Item: dbr:SYNGAP1-related_intellectual_disability
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Subject Item: dbr:Outline_of_genetics
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Subject Item: dbr:PRPF31
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Subject Item: dbr:Parathyroid_hormone-related_protein
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Subject Item: dbr:SNX8
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Subject Item: dbr:Two-hit_hypothesis
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Subject Item: dbr:XYY_syndrome
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Subject Item: dbr:Haplosufficiency
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Subject Item: wikipedia-en:Haploinsufficiency
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