Übersetzung für 'haploinsufficiency' von Englisch nach Deutsch

haploinsufficiency <HI>

Haploinsuffizienz {f} <HI>biol.

• Depending on the mutation type, AGGF1 mutations can be lethal in either the heterozygous or homozygous genotype due to its haploinsufficiency.
• It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development.
• Conversely, loss-of-function mutations in humans indicate that SLC30A8 haploinsufficiency protects against T2D.
• Hypomorphs are usually recessive, but occasional alleles are dominant due to haploinsufficiency.
• The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency).

• VWS mutations appear to result in haploinsufficiency while PPS mutations may be dominant negative in nature.
• An example of this is seen in the case of Williams syndrome, a neurodevelopmental disorder caused by the haploinsufficiency of genes at 7q11.23.
• "TCOF1" is the primary gene associated with TCS, a mutation in this gene being found in 90–95% of the individuals with TCS. Mutations in "TCOF1" lead to haploinsufficiency of the treacle protein.
• Despite the common mechanism of haploinsufficiency, there is distinct phenotypic variability amongst patients.
• Aberrant splicing and de novo heterozygous LoF mutations in SON gene disrupts the process of gene expression and can result in SON haploinsufficiency.

• A haploinsufficiency of the ATP2C1 gene located on chromosome 3, which encodes the protein hSPCA1, causes malformation of the desmosomes.
• Given the molecular role of known DENN modules, This suggested that certain aspects of the ALS and FTD disease pathology might result from haploinsufficiency of C9ORF72, leading to a defect in intracellular membrane traffic, which adds to neuronal damage from RNA-mediated and dipeptide toxicities by reducing function of microglia, the macrophage-like cells of the brain.
• While Nager syndrome is thought to be most often caused by haploinsufficiency of the spliceosomal factor SF3B4, in over one third of patients tested, the SF3B4 mutation is not found.
• In HFD-fed mice, the combination of FOXO1 and Notch-1 haploinsufficiency was more effective at restoring insulin sensitivity than FOXO1 haploinsufficiency alone.
• It can also seen with exposure to methimazole and carbimazole in utero. This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.