Results 51 to 60 of about 1,715 (142)

Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability [PDF]

, 2018
Ocular albinism type 1 (OA1) is an X-linked inherited disease characterized by impaired visual acuity, congenital nystagmus, foveal hypoplasia, hypopigmentation of iris and fundus.
Jung, Jae-Ho, Oh, Eun Hye, Choi, Seo Young, Kim, Hyang-Sook, Shin, Jin-Hong, Lee, Changwook, Choi, Kwang-Dong, Choi, Jae-Hwan   +7 more
core   +1 more source

Characterization of Chicken Skin Yellowness and Exploration of Genes Involved in Skin Yellowness Deposition in Chicken

Frontiers in Physiology, 2021
Skin color is an important economic trait in meat-type chickens. A uniform bright skin color can increase the sales value of chicken. Chickens with bright yellow skin are more popular in China, especially in the broiler market of South China.
Jingwen Wu, Jingwen Wu, Zetong Lin, Zetong Lin, Genghua Chen, Genghua Chen, Qingbin Luo, Qingbin Luo, Qinghua Nie, Qinghua Nie, Xiquan Zhang, Xiquan Zhang, Wen Luo, Wen Luo   +13 more
doaj   +1 more source

Analysis of yellow mutant rainbow trout transcriptomes at different developmental stages reveals dynamic regulation of skin pigmentation genes

Scientific Reports, 2022
Yellow mutant rainbow trout (YR), an economically important aquaculture species, is popular among consumers due to its excellent meat quality and attractive appearance.
Shenji Wu, Jinqiang Huang, Yongjuan Li, Lu Zhao, Zhe Liu   +4 more
doaj   +1 more source

NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism

BMC Genomics, 2022
Background Oculocutaneous albinism (OCA) is a group of heterogeneous genetic diseases characterized by a reduction or complete lack of pigmentation in the hair, skin, and eyes.
Yuanyuan Xiao, Cong Zhou, Hanbing Xie, Shuang Huang, Jing Wang, Shanling Liu   +5 more
doaj   +1 more source

GPR143 SIGNALING ALTERS INTRACELLULAR TRAFFICKING OF PHOTORECEPTOR OUTER SEGMENTS [PDF]

, 2022
Photoreceptors undergo a daily renewal process by shedding the distal 10% of their outer segments (POS), which are phagocytosed and degraded by the retinal pigment epithelium (RPE).
Tung, Dorothy
core  

New Prognostic Biomarkers and Drug Targets for Skin Cutaneous Melanoma via Comprehensive Bioinformatic Analysis and Validation

Frontiers in Oncology, 2021
Skin cutaneous melanoma (SKCM) is the most aggressive and fatal type of skin cancer. Its highly heterogeneous features make personalized treatments difficult, so there is an urgent need to identify markers for early diagnosis and therapy.
Sitong Zhou, Yuanyuan Han, Jiehua Li, Xiaobing Pi, Jin Lyu, Shijian Xiang, Xinzhu Zhou, Xiaodong Chen, Zhengguang Wang, Ronghua Yang   +9 more
doaj   +1 more source

Myocilin is part of a large complex of proteins bound to the cytoplasmic domain of GPR143. [PDF]

, 2013
Elution fractions 3-6, containing WT MYOC from GPR143:MBP column were pooled and maintained in PBS prior to sedimentation, or adjusted to 0.1% SDS or 500 mM KCl to determine the stability of the protein complex.
Trent J. Bowen (498940), Nicole R. Congrove (498937), W. Michael Dismuke (498939), Brian S. McKay (498936), Adiv A. Johnson (498938), W. Daniel Stamer (270453)   +5 more
core   +1 more source

Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus

Frontiers in Genetics, 2020
BackgroundA large deletion in Xp22.3 can result in contiguous gene syndromes, including X-linked ichthyosis (XLI) and Kallmann syndrome (KS), presenting with short stature, chondrodysplasia punctata, intellectual disability, and strabismus.
Wanlu Ma, Jiangfeng Mao, Xi Wang, Lian Duan, Yuwen Song, Xiaolan Lian, Junjie Zheng, Zhaoxiang Liu, Min Nie, Xueyan Wu   +9 more
doaj   +1 more source

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism [PDF]

, 2021
Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky–Pudlak syndrome and Chédiak–Higashi syndrome.
Vijay K. Tailor, Maria Theodorou, Elena R. Schiff, Samantha Malka, Hwei Wuen Chan, Mariya Moosajee, Magella M. Neveu   +6 more
core   +4 more sources

Transforming Life Science Through Chromosome‐Level Genome Assemblies

Genes to Cells, Volume 31, Issue 5, September 2026.
Chromosome‐level genome assemblies provide a framework for “glocal biology” in species of interest, linking local molecular features to chromosome architecture and evolutionary context. When integrated with pangenome analysis, comparative multi‐omics, genome language models, and experimental approaches, these assemblies enable hypothesis generation and
Tetsuo Kon, Kosuke Kataoka, Yi‐Jyun Luo, Johannes Nicolaus Wibisana, Kouhei Toga, Narumi Uno, Yuki Monden, Mayuko Hamada   +7 more
wiley   +1 more source