Results 81 to 90 of about 1,715 (142)

Ocular albinism with infertility and late-onset sensorineural hearing loss [PDF]

, 2018
Ocular albinism type 1 (OA1) is caused by mutations in the GPR143 gene located at Xp22.2. The manifestations, which are due to hypopigmentation, are confined to the eyes and optic pathway.
Plomp, Astrid S., Plomp, A.S., Michael B. Petersen, Arthur A. Bergen, Neumann, Linda, Duno, M., Dreschler, Wouter A., Linda Neumann, Winiarska, Beata S., Vorum, Henrik; id_orcid, Bergen, Arthur A., Astrid S. Plomp, Morten Duno, Vestergaard, E.M., Michael Gaihede, Bjørn K. Fabian‐Jessing, Else Marie Vestergaard, Petersen, Michael B., Beata S. Winiarska, Wouter A. Dreschler, Vestergaard, Else Marie, Fabian-Jessing, Bjørn K., Winiarska, Beate S., Henrik Vorum, Gaihede, Michael, Duno, Morten, Bergen, A.A., Vorum, Henrik, Dreschler, W.A.   +28 more
core   +1 more source

Structural and functional characterization of G protein-coupled adenosine receptors and the orphan receptor GPR143 [PDF]

, 2016
The present thesis deals with the characterization of G protein-coupled receptors (GPCRs) and their interaction with modulators on a molecular level. We focused on the structural and functional investigation of different types of GPCRs: the well known ...
De Filippo, Elisabetta
core  

Amelioration of both Functional and Morphological Abnormalities in the Retina of a Mouse Model of Ocular Albinism Following AAV-Mediated Gene Transfer. [PDF]

, 2005
X-linked recessive ocular albinism type I (OA1) is due to mutations in the OA1 gene (approved gene symbol GPR143), which is expressed in the retinal pigment epithelium (RPE).
CELLERINO A., AURICCHIO A., SURACE E. M, Venturi C, Cotugno G, Tacchetti C, CELLERINO, Alessandro, DOMENICI L., COTUGNO G., MARIGO, Valeria, BALLABIO, ANDREA, Surace EM, DOMENICI, LUCIANO, BALLABIO A, SURACE, Enrico Maria, CORTESE, KATIA, Cortese K, Domenici L, Di Vicino U, VENTURI C., BALLABIO A., TACCHETTI, CARLO, CORTESE K., SURACE E. M., DI VICINO U., AURICCHIO, ALBERTO, TACCHETTI C., Cellerino A, MARIGO V., Marigo V   +29 more
core   +1 more source

SuperDopa (SD), SuperDopa amide (SDA) and Thioredoxin-mimetic peptides protect ARPE-19 cells from photic- and non-photic stress

Journal of Photochemistry and Photobiology
Oxidative stress and inflammation in the retinal pigment epithelium (RPE) cells have been identified as significant risk factors in the development and progression of retinal associated diseases including age-related macular degeneration (AMD).
Magdalena M Olchawa, Grzegorz Szewczyk, Marva Lachish, Tadeusz Sarna, Daphne Atlas   +4 more
doaj   +1 more source

Single-cell multi-omics dissection of RevitalAge Markers uncovers age-dependent immunotherapy resistance and druggable targets in melanoma

Biology Direct
Aging-related molecular reprogramming profoundly influences melanoma progression and therapeutic sensitivity, yet underlying mechanisms remain poorly understood.
Hanxiao Zhou, Benliang Wei, Wenlu Tan, Ji Shi, Changyuan Ren, Jinhao Zhang, Changlin Yang, Zheng Zhao, Shangwei Ning   +8 more
doaj   +1 more source

Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia

Journal of Translational Medicine
Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with amblyopia with poor prognosis.
Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J. Fielding Hejtmancik, Qingjiong Zhang   +8 more
doaj   +1 more source

PHYSIOLOGICAL ROLES OF L-DOPAERGIC NEUROTRANSMISSION [PDF]

, 2020
新規生理活性物質の同定は医学・生物学研究における重要課題の一つである．L-3,4-dihydroxyphenylalanine（L-DOPA，レボドパ，ドーパ）の薬理作用はドパミンへの変換を介してのみ発現し，それ自体は不活性のアミノ酸であると考えられてきた．一方，ドーパがある一定の刺激により遊離されること，ドパミンへの変換を介さない生体応答が存在し，その応答がドーパ類縁化合物により拮抗されること等，ドーパが神経伝達物質として機能するという知見が集積されてきた．その受容体の存在は長らく不明であったが ...
増川, 太輝, マスカワ, ダイキ
core   +1 more source

Cutaneous Depigmentation in a Child With Ocular Albinism Type 1: Expanding the Clinical Phenotype. [PDF]

Cureus
Monteiro M, Fazendeiro Matos J, Sá J, Nabais Sá MJ, Queirós C.   +4 more
europepmc   +1 more source

Levodopa Suppresses Choroidal Neovascularization Through a Tyrosinase-Dependent Dual Mechanism. [PDF]

Invest Ophthalmol Vis Sci
Veernala I, Cuamatzi-Castelan AS, Rajesh A, Gong J, D'Souza GJ, Lavine JA.   +5 more
europepmc   +1 more source

Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism. [PDF]

Invest Ophthalmol Vis Sci
Chen S, Yi Z, Zheng Y, Jiang Y, Guo D, Jia X, Li S, Xiao X, Zhang Q, Sun W.   +9 more
europepmc   +1 more source