المؤلفون: Alexander German, Jelena Jukic, Andreas Laner, Philipp Arnold, Eileen Socher, Angelika Mennecke, Manuel A. Schmidt, Jürgen Winkler, Angela Abicht, Martin Regensburger

المصدر: Genes, Vol 15, Iss 1, p 14 (2023)

مصطلحات موضوعية: hereditary spastic paraplegia, SPG35, FA2H, FAHN, genetic variant modeling, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/1/14Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/59d3811eff3b429f8ddf9cda7e03b544Test

المؤلفون: Cuiling Wu, Jianying Li, Xinming Xu, Qi Xu, Chongkai Qin, Guifen Liu, Chen Wei, Guoping Zhang, Kechuan Tian, Xuefeng Fu

المصدر: BMC Genomics, Vol 23, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Jiangnan cashmere goats, Cashmere fineness, FA2H, Dermal papilla cells, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2164Test

الوصول الحر: https://doaj.org/article/07bc7bcaf5ff45f48c2ec4f567b7bf01Test

المؤلفون: Xin Luo, Yuwen Su, Lian Zhong, Qiqi Kuang, Yanshan Zhu, Xiao Zhou, Guishao Tang, Yunfeng Fu, Siying Li, Ruifang Wu

المصدر: Biomedicine & Pharmacotherapy, Vol 160, Iss , Pp 114421- (2023)

مصطلحات موضوعية: Auranofin, Psoriasis vulgaris, Keratinocyte, Fatty acid 2-hydroxylase, FA2H, Anti-inflammation, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0753332223002093Test; https://doaj.org/toc/0753-3322Test

الوصول الحر: https://doaj.org/article/29a5efedf38e42db95179df806556a03Test

المؤلفون: Frida Mandik, Yuliia Kanana, Jost Rody, Sophie Misera, Bernd Wilken, Björn-Hergen Laabs von Holt, Christine Klein, Melissa Vos

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: fatty acid hydroxylase-associated neurodegeneration, Drosophila melanogaster, FA2H, autophagy, mitochondria, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2022.1000553/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/cbfa4ab939774d59ab40eef54e1c88bbTest

المؤلفون: Takashi Watanabe, Akemi Suzuki, Shin Ohira, Shinji Go, Yuta Ishizuka, Takuya Moriya, Yoshiyuki Miyaji, Tota Nakatsuka, Keita Hirata, Atsushi Nagai, Junko Matsuda

المصدر: Journal of Lipid Research, Vol 63, Iss 12, Pp 100303- (2022)

مصطلحات موضوعية: sphingolipids, ceramides, 20-carbon long-chain base, 2-hydroxy fatty acid, DES2, FA2H, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0022227522001365Test; https://doaj.org/toc/0022-2275Test

الوصول الحر: https://doaj.org/article/147c5259c428431f998dd5ba707b2309Test

المؤلفون: Frida Mandik (14255618), Yuliia Kanana (14255621), Jost Rody (14255624), Sophie Misera (14255627), Bernd Wilken (11005612), Björn-Hergen Laabs von Holt (14255630), Christine Klein (178235), Melissa Vos (189339)

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), fatty acid hydroxylase-associated neurodegeneration, Drosophila melanogaster, FA2H, autophagy, mitochondria

العلاقة: https://figshare.com/articles/presentation/Presentation1_A_new_model_for_fatty_acid_hydroxylase-associated_neurodegeneration_reveals_mitochondrial_and_autophagy_abnormalities_PPTX/21721916Test

الإتاحة: https://doi.org/10.3389/fcell.2022.1000553.s002Test

المؤلفون: Kshitiz Singh, Brianna M. Quinville, Melissa Mitchell, Zhilin Chen, Jagdeep S. Walia

المصدر: Genes; Volume 13; Issue 11; Pages: 2020

مصطلحات موضوعية: Sandhoff disease, qPCR, gene expression, Hexb, Wfdc17, Ccl3, Lyz2, Fa2h, Mog, Ugt8a

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13112020Test

الإتاحة: https://doi.org/10.3390/genes13112020Test

المؤلفون: Ayako Senju, Jyunpei Shibahara, Koichi Kusuhara, Masahiro Ishii, Masayuki Shimono, Naoki Shiota, Ryota Igarashi, Tomofumi Fukuda, 下野 昌幸, 五十嵐 亮太, 千手 絢子, 塩田 直樹, 柴原 淳平, 楠原 浩一, 石井 雅宏, 福田 智文

المصدر: 脳と発達 / NO TO HATTATSU. 2022, 54(1):46

المؤلفون: Masoud Edizadeh, Negar Chegeninejad, Soheila Akbari, Maryam Salehirad, Rezvan Pakmanesh, Shokoufeh Ahmadipour, Kourosh Hayatigolkhatmi, Hamidreza Khodadadi

المصدر: Clinical Case Reports, Vol 9, Iss 6, Pp n/a-n/a (2021)

مصطلحات موضوعية: developmental delay, FA2H, spastic paraplegia, TECPR2, whole‐exome sequencing, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/cbb0abe2e1e446c5848d4251822059c4Test

المؤلفون: G. Rudenskaya E., V. Kadnikova A., A. Chukhrova L., T. Markova V., O. Ryzhkova P., Г. Руденская Е., В. Кадникова А., А. Чухрова Л., Т. Маркова В., О. Рыжкова П.

المصدر: Medical Genetics; Том 18, № 11 (2019); 26-35 ; Медицинская генетика; Том 18, № 11 (2019); 26-35 ; 2073-7998

مصطلحات موضوعية: спастические параплегии типов 5, гены CYP7B1, панельное экзомное секвенирование, SPG types 5, genes CYP7B1, panel exome sequencing, гены B4GALNT1, гены FA2H, гены PNPLA6, спастические параплегии типов26, спастические параплегии типов35, спастические параплегии типов39, мутации, фенотипы, SPG types26, SPG types35, SPG types39, genes B4GALNT1, genes FA2H, genes PNPLA6, mutations, phenotypes

وصف الملف: application/pdf

العلاقة: https://www.medgen-journal.ru/jour/article/view/739/459Test; https://www.medgen-journal.ru/jour/article/view/739Test

الإتاحة: https://doi.org/10.25557/2073-7998.2019.11.26-35Test
https://www.medgen-journal.ru/jour/article/view/739Test