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Hypomorphic describes a mutation that causes a partial loss of gene function. [1] A hypomorph is a reduction in gene function through reduced (protein, RNA) expression or reduced functional performance, but not a complete loss. The phenotype of a hypomorph is more severe in trans to a deletion allele than when homozygous. [2] m/DF > m/m
Frontotemporal lobar degeneration; Neuropathologic analysis of brain tissue from FTLD-TDP patients. Ubiquitin immunohistochemistry in cases of familial FTLD-TDP demonstrates staining of (a) neurites and neuronal cytoplasmic inclusions in the superficial cerebral neocortex, (b) neuronal cytoplasmic inclusions in hippocampal dentate granule cells, and (c) neuronal intranuclear inclusions in the ...
A null allele is a nonfunctional allele (a variant of a gene) caused by a genetic mutation.Such mutations can cause a complete lack of production of the associated gene product or a product that does not function properly; in either case, the allele may be considered nonfunctional.
The permissive temperature is the temperature at which a temperature-sensitive mutant gene product takes on a normal, functional phenotype. [2] When a temperature-sensitive mutant is grown in a permissive condition, the mutant gene product behaves normally (meaning that the phenotype is not observed), even if there is a mutant allele present.
Hypomorphic mutations in LIG4 and XLF cause LIG4 syndrome and XLF-SCID, respectively. These syndromes share many features including cellular radiosensitivity, microcephaly and severe combined immunodeficiency (SCID) due to defective V(D)J recombination. Loss-of-function mutations in Artemis also cause SCID, but these patients do not show the ...
A panel of global experts explains why BMI is not the most helpful measurement of body weight, and how else doctors can diagnose obesity. Image credit: VICTOR TORRES/Stocksy.
Haploinsufficiency model of dominant genetic disorders. A + is a normal allele. A − is a mutant allele with little or no function. In haplosufficiency (most genes), a single normal allele provides enough function, so A + A − individuals are healthy.
The hospice business has undergone a dramatic transformation over the past decade, from a collection of small religious-affiliated entities into a booming mega industry dominated by companies seeking to reap big profits from the business of dying.