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17 wrz 2024 · We describe a unique case of monozygotic triplets concordant for developmental delay, WM lesions, autoimmune manifestations, and MPO-ANCA positivity in whom we identified a de novo interstitial deletion of chromosome 18p.
- Characterization of a loss-of-function NSF attachment protein beta ...
The novel, homozygous inherited variant we discovered in the...
- Characterization of a loss-of-function NSF attachment protein beta ...
18 wrz 2024 · By chromosomal microarray analysis and whole genome sequencing, we found the triplets to carry a de novo interstitial 5.9 Mb deletion of chromosome 18p11.31p11.21 spanning 19 protein-coding genes.
7 sty 2024 · The novel, homozygous inherited variant we discovered in the Palestinian triplets results in the loss of splice donor site and presumably null expression of NAPB protein. To investigate the molecular and biological consequence of NAPB LoF in human neurons, we generated induced pluripotent stem cell (iPSC) lines from all three probands and their ...
4 cze 2019 · Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression. Ingrid S. Tarr, Emily P. McCann, Beben Benyamin, Timothy J....
In this paper, we showed that lymphoblastoid cell lines derived from the HL-free triplet had higher MKL1 mRNA and protein levels when compared to the HL affected triplets, while cells derived from the HL treated triplets resembled the healthy controls used in the study.
The PITX2 gene was found as a candidate of monozygotic twinning in a molecular screening of an “experimental twinning” model in chickens . PITX2 encodes a protein that acts as a transcription factor, regulating the expression of genes involved with the formation of the embryonic axis.
28 wrz 2021 · Monozygotic (MZ) twins and higher-order multiples arise when a zygote splits during pre-implantation stages of development. The mechanisms underpinning this event have remained a mystery. Because...
