Somatic mosaicism has been observed previously in the lymphocyte population of patients with Fanconi anemia (FA). To identify the cellular origin of the genotypic reversion, we examined each ...

2021年8月17日 讯 /生物谷BIOON/ --在发育、生活和衰老过程中，所有人类细胞都会积累突变，导致所谓的镶嵌现象（mosaicism）出现，即同一个人机体不同的细胞中含有不同的DNA序列或遗传组成。镶嵌现象发生在每个人身上，但在大多数情况下我们是察觉不到的；然而 ...

Somatic chromosomal mosaicism is defined as the presence of two or more chromosomally distinct cell lines and represents a challenging task not only to detect but also to interpret. Owing to various ...

2021年3月23日 讯 /生物谷BIOON/ --近日，一篇发表在国际杂志Nature上题为“Inherent mosaicism and extensive mutation of human placentas”的研究报告中，来自英国桑格学院研究所等机构的科学家们通过研究证实，胎盘的正常结构与其他人体器官或许并不相同，但却与肿瘤相似，并 ...

Researchers identified mosaicism as a possible factor influencing Alzheimer’s risk in adults with Down syndrome, offering new insights into amyloid biomarkers and their broader implications for the ...

Somatic mosaicism is the accumulation of mutations in DNA sequence or copy number in cellular genomes after fertilization. It is a known cause of neurological disorders including developmental brain ...

The first affected male in this family was the second of four sons born to nonconsanguineous healthy parents after an unremarkable pregnancy. In particular, the mother did not exhibit any dysmorphism ...

In most people, every cell in their body contains the same genetic information. However, sometimes people can have two or more genetically different sets of cells. This usually happens during fetal ...

Macrophages play a critical role in the immune system by fighting infections and aiding in tissue repair. Understanding how these cells are activated in different scenarios is important for developing ...

NA denotes not applicable, and ND not detected. Febrile seizures plus are febrile seizures that occur after the age when these seizures usually occur (3 months to 6 years) or when there are concurrent ...

Scientists at the University of Pennsylvania Perelman School of Medicine and the Children’s Hospital of Philadelphia (CHOP), have been able to examine a rare disease in which the maternal and paternal ...

A hyperpigmented revertant patch is visible on the wrist, surrounded by pink, blistered skin. The site of the biopsy of the patch is circled in black ink. The patient is Patient 13. Mutations Present ...