Glaucoma genes and mechanisms
JL Wiggs - Progress in molecular biology and translational …, 2015 - Elsevier
Genetic studies have yielded important genes contributing to both early-onset and adult-
onset forms of glaucoma. The proteins encoded by the current collection of glaucoma genes …
onset forms of glaucoma. The proteins encoded by the current collection of glaucoma genes …
[PDF][PDF] High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
T Mitani, S Isikay, A Gezdirici, EY Gulec… - The American Journal of …, 2021 - cell.com
Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many
such disorders are secondary to perturbation in brain development and/or function. The …
such disorders are secondary to perturbation in brain development and/or function. The …
[HTML][HTML] To be or not to be an ion channel: cryo-EM structures have a say
GL Chen, J Li, J Zhang, B Zeng - Cells, 2023 - mdpi.com
Ion channels are the second largest class of drug targets after G protein-coupled receptors.
In addition to well-recognized ones like voltage-gated Na/K/Ca channels in the heart and …
In addition to well-recognized ones like voltage-gated Na/K/Ca channels in the heart and …
[HTML][HTML] Assessing structural variation in a personal genome—towards a human reference diploid genome
AC English, WJ Salerno, OA Hampton… - BMC genomics, 2015 - Springer
Background Characterizing large genomic variants is essential to expanding the research
and clinical applications of genome sequencing. While multiple data types and methods are …
and clinical applications of genome sequencing. While multiple data types and methods are …
[HTML][HTML] TMCO1 is essential for ovarian follicle development by regulating ER Ca2+ store of granulosa cells
TMCO1 (transmembrane and coiled-coil domains 1) is an endoplasmic reticulum (ER)
transmembrane protein that actively prevents Ca2+ stores from overfilling. To characterize …
transmembrane protein that actively prevents Ca2+ stores from overfilling. To characterize …
[HTML][HTML] TMCO1-mediated Ca2+ leak underlies osteoblast functions via CaMKII signaling
J Li, C Liu, Y Li, Q Zheng, Y Xu, B Liu, W Sun… - Nature …, 2019 - nature.com
Transmembrane and coiled-coil domains 1 (TMCO1) is a recently identified Ca2+ leak
channel in the endoplasmic reticulum. TMCO1 dysfunction in humans is associated with …
channel in the endoplasmic reticulum. TMCO1 dysfunction in humans is associated with …
iASPP suppresses Gp78-mediated TMCO1 degradation to maintain Ca2+ homeostasis and control tumor growth and drug resistance
S Zheng, D Zhao, G Hou, S Zhao… - Proceedings of the …, 2022 - National Acad Sciences
Ca2+ release from the endoplasmic reticulum (ER) is an essential event in the modulation of
Ca2+ homeostasis, which is coordinated by multiple biological processes, ranging from cell …
Ca2+ homeostasis, which is coordinated by multiple biological processes, ranging from cell …
[HTML][HTML] Ca2+ homeostasis maintained by TMCO1 underlies corpus callosum development via ERK signaling
KY Yang, S Zhao, H Feng, J Shen, Y Chen… - Cell Death & …, 2022 - nature.com
Transmembrane of coiled-coil domains 1 (TMCO1) plays an important role in maintaining
homeostasis of calcium (Ca2+) stores in the endoplasmic reticulum (ER). TMCO1-defect …
homeostasis of calcium (Ca2+) stores in the endoplasmic reticulum (ER). TMCO1-defect …
[HTML][HTML] DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma
Purpose.: We examined the role of DNA copy number variants (CNVs) of known glaucoma
genes in relation to primary open angle glaucoma (POAG). Methods.: Our study included …
genes in relation to primary open angle glaucoma (POAG). Methods.: Our study included …
Novel peptides and combination of peptides for use in immunotherapy against hepatocellular carcinoma (hcc) and other cancers
T Weinschenk, M Andrea, J Fritsche… - US Patent App. 15 …, 2017 - Google Patents
First worldwide family litigation filed litigation Critical https://patents. darts-ip. com/? family=
52630910&utm_source= google_patent&utm_medium= platform_link&utm_campaign …
52630910&utm_source= google_patent&utm_medium= platform_link&utm_campaign …