Longitudinal personal DNA methylome dynamics in a human with a chronic condition

The DNA methylome: a novel biomarker.

that disrupt the protein coding exons completely (null mutations) on one allele, intragenic deletions that impact exons 4 to 7 that result in dominant-negative isoforms, and biallelic deletions that result in a null phenotype. Single base mutations also occur, many of which would be predicted to impair function. 5 Although the contribution of each allele might vary, the functional impact of suc...

Testicular Biopsy in Males With Infertility: A Longitudinal Study

Background & objective: Regarding the importance of histologic examination of testicular biopsy for clinical planning of infertility, the current study was conducted to compare 2 separate histologic examination of testicular biopsy. Also, some cases with known fertility outcome were followed and their histological patterns were also compared with those of the outcome. ...

SnapShot: The Human DNA Methylome in Health and Disease

DNA repair, DNA replication and human disorders: a personal journey.

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The human blood DNA methylome displays a highly distinctive profile compared with other somatic tissues

In mammals, DNA methylation profiles vary substantially between tissues. Recent genome-scale studies report that blood displays a highly distinctive methylomic profile from other somatic tissues. In this study, we sought to understand why blood DNA methylation state is so different to the one found in other tissues. We found that whole blood contains approximately twice as many tissue-specific ...