PRPF31Müller退

Alessandro Bellapianta1, Jingjing Qi2, Michele Giugliano3

  • 1Research Group Cellular and Molecular Ophthalmology, University Clinic for Ophthalmology and Optometry, Johannes Kepler University Linz, Kepler University Hospital, Altenberger Strasse 69, 4040 Linz and Krankenhausstrasse 5, 4020 Linz, Austria.

Biomedicines
|January 28, 2026
PubMed
概括

在PRPF31中发生的突变导致RP11,一种视网膜疾病. 这项研究使用视网膜器官来揭示RP11中的早期分子变化和细胞反应,为疾病进展提供了洞察力.

相关概念视频

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
14.9K
Mutations01:39

Mutations

Overview
94.4K
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.5K
Glial Cells01:04

Glial Cells

Overview
93.6K
Photoreceptors and Plant Responses to Light02:00

Photoreceptors and Plant Responses to Light

Light plays a significant role in regulating the growth and development of plants. In addition to providing energy for photosynthesis, light provides other important cues to regulate a range of developmental and physiological responses in plants.
28.4K
Nervous Tissue: Glial Cells01:31

Nervous Tissue: Glial Cells

Glia, or neuroglia, are vital support cells that assist neurons in their functions. The term "glia" originates from the Greek word for "glue," reflecting their role in holding the nervous system together. These cells can be categorized into six types: four in the central nervous system (CNS) and two in the peripheral nervous system (PNS).
The CNS glial cell includes the astrocytes, the oligodendrocytes, the microglia, and the ependymal cells.
Astrocytes are star-shaped glial...
6.9K