Using the same method as above, we measured TREX1 activity in a lymphoblastoid cell line from the affected child. Interestingly, and in contrast to AGS-affected patients with disease resulting from biallelic TREX1 mutations, we found that TREX1 exonuclease activity was within 50%–100% of the ...
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Matrix Gla protein (MGP) is a vitamin K-dependent post-translationally modified protein, highly expressed in vascular and cartilaginous tissues. It is a potent inhibitor of extracellular matrix mineralization. Biallelic loss-of-function variants in the M
Their study showed that the full breakdown of KvLQT1 mediated K+ secretion in the cochlea linked to the biallelic inheritance of 2 truncating/haploid insufficient pathogenic variants (complete loss-of-function) is the major mechanism that affects the homeostasis of inner ear fluid, causing the ...
(ADCA, also known as spinocerebellar ataxias [SCAs]) due to heterozygous variants or polyglutamine triplet expansions leading to adult-onset ataxia, and autosomal recessive spinocerebellar ataxias (ARCAs, also known as SCARs) due to biallelic variants, usually resulting in more severe and earlier-...
if this second variant is functionally relevant, inheritance would be compatible with a recessive or codominant model as reported forMC4R. In the codominant mode of inheritance, both monoallelic and biallelic mutations can cause the disorder and patients with biallelic mutations are more affected than...
Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth due to a pronounced reduction in brain volume and intellectual disability. Biallelic mutations in the WD repeat-containing protein 62 g
In some Roma patients the disease may also be caused by two different biallelic pathogenic mutations. 展开 关键词: Hereditary spastic paraplegia Czech Roma population Prevalent variant SPG11 SPG77 年份: 2020 收藏 引用 批量引用 报错 分享
‘Feizixiao’ VCF file. Only biallelic SNPs were selected for haplotype phasing using HapCUT2 (ref.41) (v.1.1), combined with Hi-C and corrected PacBio reads. We extracted the MVP blocks and filtered out both unphased SNPs and unknown genotypes. Eventually, blocks of haplotypic SNPs were ...
Moreover, triple combinations of a CDK4/6i with a PI3Ki and ET are active in PDXs harboring biallelic RB1 mutation (or pRb protein loss). Although CDK4/6i are mostly administrated in combination with ET, abemaciclib has shown activity in ER+/HER2-negative metastatic BC that progressed on...