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Updated: May 26, 2025

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay
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Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay

Published on: February 20, 2015

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与PAX2相关疾病的基因型与脏和眼部表现相关

Ji Hyun Kim1,2, Yo Han Ahn3,4,5, Yeonji Jang6

  • 1Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.

European journal of human genetics : EJHG
|February 24, 2025
PubMed
概括

PAX2基因中的致病变体与脏和眼睛异常有关. 预测功能丧失 (pLoF) PAX2变体与更严重的脏和眼部结果有关,有助于个性化患者管理.

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Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring07:35

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相关概念视频

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Genetic Lingo

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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Lethal Alleles

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Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
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