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Currently, the most characterized defects in components involved in mitochondrial dynamics have been found in inherited neurological and neurodegenerative disorders.
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Recently, activated ER stress pathways have been found in some inherited myelin disorders and MS but little is known regarding how ER stress is triggered in these cells under pathological conditions.
Germline mutations in PTEN have also been found in the dominantly inherited Cowden, Lhermitte-Duclos, and Bannayan-Zonana syndromes, which are characterised by the formation of multiple benign tumours (Nelen et al, 1997).
Indeed, mutations in tau have been found in patients with the inherited tauopathy known as frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17) [3]–[5].
For example, type 1 papillary RCC is characterised by mutations in the tyrosine kinase domain of c-Met oncogene, while mutations in the fumarate hydratase gene of the Krebs cycle have been found in hereditary leiomyomatosis RCC, an inherited form of type 2 papillary RCC.
Mutations in this gene have been found in very rare cases of dominantly inherited chromosome-X-linked ALS (X-ALS) and ALS with FTLD (Deng et al., 2011).
SOD1 gene mutations have been found in approximately 20% of individuals with the inherited form of amyotrophic lateral sclerosis (ALS) motor neuron disease (MND), a rapidly progressive and fatal neurological disorder [ 1].
The Denisovans, for example: Tiny pieces of genes inherited from them have been found in modern humans in Papua New Guinea.
A second observation that supports an immunosuppressive role for ROS is found in the inherited syndrome CGD.
We also show evidence suggesting that the progressive phenotype results from these mutations functioning in a dominant negative manner and that in silico modeling and in vitro experiments can be used together to distinguish between these severe dominant mutations and those that are found in recessive inherited conditions or alleles with amino acid substitutions found in healthy controls.
They are mitotically stable and were found in several instances inherited through the germ line [3], [4].
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