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All the available ascertained affected PDB individuals from the third generation (III-1, III-3, III-12 and III-13) exhibited the M404V mutation of the p62/ SQSTM1 gene (Table 1), confirming the pathogenetic nature of this p62/ SQSTM1 gene mutation and suggesting segregation of the mutation with the polyostotic phenotype in this family.
However, for others, such as cardiovascular defects, craniosynostosis, facial defects (e.g. of the eye), other gastrointestinal defects, and genitourinary defects, many studies ascertained affected cases up to 1 year after birth or beyond, or when diagnoses were made in infancy (including referrals for corrective treatment).
Of the five clinically ascertained affected members of the family, four possessed the M404V mutation and exhibited the polyostotic form of PDB, except one patient with a single X-ray-assessed skeletal localization and one with a polyostotic disease who had died several years before the DNA analysis.
Over all, considering only the clinically ascertained affected subjects (III-1, III-3, III-6, III-12 and III-13), the number of bones involved in this family is 3.8 ± 2.31 (mean ± SD).
Similar(56)
When we restricted the analyses to only those studies that had at least 1-year follow-up to ascertain affected cases, the pooled OR was similar: 1.10 (95% CI 1.02 1.18).
Nonetheless, studies that aim to ascertain factors affecting FDI and its effect on specific economies are still in their infancy (Blonigen [2005]).
Each analysis was run under either a Coalescent (Constant Size), Yule, or Birth-Death prior to ascertain the affect of these tree priors on the resulting divergence estimates.
Day 0 neonate fibroblast cells were treated with 5-azacytidine followed by RNA/DNA fluorescence in situ hybridization (FISH) to ascertain the affect of CpG hypomethylation on the allelic expression profile of IGF2 in M. domestica.
First we ascertained if resistin affected stimulation of insulin-induced glucose transport.
We developed a pedigree-based analytical framework to characterise single-nucleotide polymorphism (SNP) associations with BC risk using data from 736 BC families ascertained through multiple affected individuals.
This is in keeping with the well-established preferential association between haplogroup J and m.14484T→C LHON pedigrees ascertained through clinically affected individuals.
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CEO of Professional Science Editing for Scientists @ prosciediting.com