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  1. 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 ...

  2. 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.

  3. 11 cze 2024 · Hence, we used metabolomics and proteomics to identify metabolites and proteins in peripheral blood to discriminate MZ twins. We identified 1749 known metabolites and 622 proteins in proteomic analysis. The metabolic profiles of four pairs of MZ twins revealed minor differences in intra-MZ twins and major differences in inter-MZ twins.

  4. 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.

  5. 9 paź 2024 · The monozygosity of the triplets was confirmed by genotyping 24 highly polymorphic STR loci using the GlobalFiler TM PCR Amplification kit (Thermo Fisher Scientific, Waltham, MA, USA), which resulted in the same STR profile per individual, respectively.

  6. 10 lip 2024 · Cases of MZ twins from IVF clinics were found by using combinations of terms including ‘monozygotic twins’ with ‘IVF case report’, ‘ART’, ‘single embryo transfer’, or ‘dichorionic’. The papers retrieved were categorized based on the implicated mechanisms or as those with unexplained mechanisms.

  7. 7 sty 2021 · We first estimated the number of discordant postzygotic mutations in pairs of monozygotic twins (381 twin pairs; 2 triplets) by comparing sequence variation in somatic tissues (1 adipose, 204...

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