[HTML][HTML] Genotype–phenotype associations and human eye color
D White, M Rabago-Smith - Journal of human genetics, 2011 - nature.com
… -coding region, has been linked more strongly to eye color. Both genes are located on …
These genes are of the greatest importance for eye color. Numerous ubiquitin ligases are coded …
These genes are of the greatest importance for eye color. Numerous ubiquitin ligases are coded …
[图书][B] … Biophysical Characterization of the Human HECT E3 Ubiquitin Ligase, HERC2 with Implications in Breast Cancer, Prader-Willi Syndrome, and Eye Coloration
K Rich - 2020 - search.proquest.com
… HECT domain and RCC1-like domain Containing protein 2 (HERC2) is a HECT E3 ubiquitin
ligase protein that is implicated in breast cancer, Prader-Willi syndrome, and eye color …
ligase protein that is implicated in breast cancer, Prader-Willi syndrome, and eye color …
The potential role of ubiquitination and deubiquitination in melanogenesis
S Hu, L Wang - Experimental Dermatology, 2023 - Wiley Online Library
… The colour of mammalian fur, eyes and hair is mainly de… the action of E3 ubiquitin ligase
and deubiquitinating enzymes… coat coloration and addressing pigment-related diseases. …
and deubiquitinating enzymes… coat coloration and addressing pigment-related diseases. …
Eye color: A potential indicator of alcohol dependence risk in European Americans
… phenotypic association of AD with light eye colors, particularly blue eye color (Table I),
significant enrichment of genetic interactions between selected eye color genes and AD genes (…
significant enrichment of genetic interactions between selected eye color genes and AD genes (…
E3 ubiquitin ligase-mediated regulation of vertebrate ocular development; new insights into the function of SIAH enzymes
WP Piedade, JK Famulski - Biochemical Society Transactions, 2021 - portlandpress.com
… aspects of Drosophila eye development, including eye size, … fly eye size is regulated by
activity of two E3 ubiquitin ligases… requires activity of the E3 ubiquitin ligase, Ubr3 [52] which …
activity of two E3 ubiquitin ligases… requires activity of the E3 ubiquitin ligase, Ubr3 [52] which …
The ABCs of Eye Color in Tribolium castaneum: Orthologs of the Drosophila white, scarlet, and brown Genes
N Grubbs, S Haas, RW Beeman, MD Lorenzen - Genetics, 2015 - academic.oup.com
… Since RNAi of both Tcw and Tcst resulted in white eyes in pupae and adults, we examined
known eye-color mutants to determine if any represented defects in these two genes. Since …
known eye-color mutants to determine if any represented defects in these two genes. Since …
[HTML][HTML] Increased histological tumor pigmentation in uveal melanoma is related to eye color and loss of chromosome 3/BAP1
MC Gelmi, APA Wierenga, WGM Kroes… - Ophthalmology …, 2023 - Elsevier
… Eye color is largely determined by SNPs in specific genes, such as OCA2 melanosomal
transmembrane protein (OCA2), HECT and RLD domain containing E3 ubiquitin protein ligase 2 …
transmembrane protein (OCA2), HECT and RLD domain containing E3 ubiquitin protein ligase 2 …
Expression atlas of the deubiquitinating enzymes in the adult mouse retina, their evolutionary diversification and phenotypic roles
… activity and composition of ubiquitin ligases has been largely … specialized neurons in the eye
that capture and process light … , and in which ubiquitin and ubiquitination play a relevant role…
that capture and process light … , and in which ubiquitin and ubiquitination play a relevant role…
Hedgehog-dependent E3-ligase Midline1 regulates ubiquitin-mediated proteasomal degradation of Pax6 during visual system development
T Pfirrmann, E Jandt, S Ranft… - Proceedings of the …, 2016 - National Acad Sciences
… Because Mid1 is an E3 ubiquitin ligase, we assume that Mid1 regulates Pax6 expression on
… -ubiquitination of Pax6. We also demonstrate that mid1 expression during eye development …
… -ubiquitination of Pax6. We also demonstrate that mid1 expression during eye development …
The role of MITF phosphorylation sites during coat color and eye development in mice analyzed by bacterial artificial chromosome transgene rescue
GL Bauer, C Praetorius, K Bergsteinsdóttir… - Genetics, 2009 - academic.oup.com
… is partially rescued, resulting in mice with normal eyes, a … the eye defect of the Mitf mi-vga9
mutation, and the coat color … the eye developmental defect but rescues the coat color defect …
mutation, and the coat color … the eye developmental defect but rescues the coat color defect …
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- herc ubiquitin ligases
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