Fktn - fukutin-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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246179 Fktn

基因描述

Type	Description
Definition	fukutin

研究结论

Date	Results	Publications
2020-04-11 10:57:00	Study shows molecular pathogenesis of muscular dystrophy-associated cardiomyopathy in mice lacking the Fktn gene. Although cardiac Fktn elimination markedly reduced alpha-dystroglycan glycosylation and dystrophin-glycoprotein complex proteins in sarcolemma at all developmental stages, cardiac dysfunction was observed only in later adulthood, suggesting that membrane fragility is not the sole etiology of cardiac dysfunc...	31848331
2016-10-08 10:22:00	Rapamycin treatment in fukutin-deficient mouse model of dystroglycanopathy delays/reduces disease burden.	27257474
2016-07-30 10:39:00	Fktn deficient mice express moderate to severe muscular dystrophy; glycosylated alpha-dystroglycan has a unique role in muscle regeneration in these mice	26751696
2012-11-24 11:00:00	Mouse fukutin deletion impairs dystroglycan processing, recapitulates muscular dystrophy and is relevant to modifications near the dystroglycan O-mannose sugar.	22922256
2012-05-05 10:04:00	disease-causing missense mutations cause abnormal folding and localization of fukutin protein	22275357

名称对应

Type	IDs
Synonymous	D830030O17Rik, Fcmd
Gene	UniProtKB-ID: FKTN_MOUSE, A0A1Y7VM91_MOUSE UniprotKB: Q8R507, A0A1Y7VM91 UniParc: UPI0000022EA0, UPI0003D70372 EMBL: AK085931, AJ511807, AB077383, BC017538, AL844585, AL807745 Ensembl: ENSMUSG00000028414 KO: mmu:246179
Nucleutide sequences	EMBL-CDS: BAB87769.1, BAC39572.1, CAD54302.1, AAH17538.1 Ensembl_TRS: ENSMUST00000128667, ENSMUST00000061771, ENSMUST00000221657
Protein sequencees	Ensembl_PRO: ENSMUSP00000114699, ENSMUSP00000061489, ENSMUSP00000152867 RefSeq: XP_030109438.1, NP_001350055.1, NP_647470.1, XP_006538006.1, XP_006538004.1, NP_001350056.1, NP_001350057.1
Others	UniRef100: UniRef100_Q8R507 UniRef90: UniRef90_Q8R507 UniRef50: UniRef50_O75072 UniGene: Mm.247210 CCDS: CCDS18191.1

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
31848331	Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure. Nat Commun Yoshihiro Ujihara , Motoi Kanagawa , Satoshi Mohri , Satomi Takatsu , Kazuhiro Kobayashi , Tatsushi Toda , Keiji Naruse , Yuki Katanosaka	2019-12-17	-
29360985	Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage. Hum. Mol. Genet. Atsushi Sudo , Motoi Kanagawa , Mai Kondo , Chiyomi Ito , Kazuhiro Kobayashi , Mitsuharu Endo , Yasuhiro Minami , Atsu Aiba , Tatsushi Toda	2018-04-01	-
27257474	Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy. Skelet Muscle Steven J Foltz , Junna Luan , Jarrod A Call , Ankit Patel , Kristen B Peissig , Marisa J Fortunato , Aaron M Beedle	2016-01-01	-
26751696	Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice. PLoS ONE Steven J Foltz , Jill N Modi , Garrett A Melick , Marin I Abousaud , Junna Luan , Marisa J Fortunato , Aaron M Beedle	2016-01-01	-
25661440	Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression. Sci Rep Yoshihisa Ohtsuka , Motoi Kanagawa , Chih-Chieh Yu , Chiyomi Ito , Tomoko Chiyo , Kazuhiro Kobayashi , Takashi Okada , Shin'ichi Takeda , Tatsushi Toda	2015-01-01	-
24722207	Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice. Hum. Mol. Genet. Fumiaki Saito , Motoi Kanagawa , Miki Ikeda , Hiroki Hagiwara , Toshihiro Masaki , Hidehiko Ohkuma , Yuki Katanosaka , Teruo Shimizu , Masahiro Sonoo , Tatsushi Toda , Kiichiro Matsumura	2014-09-01	Igf1, Lama2, Large, Fktn
25198651	Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. PLoS ONE Motoi Kanagawa , Zhongpeng Lu , Chiyomi Ito , Chie Matsuda , Katsuya Miyake , Tatsushi Toda	2014-01-01	Large, Fktn, Dysf
23562821	Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. Hum. Mol. Genet. Motoi Kanagawa , Chih-Chieh Yu , Chiyomi Ito , So-ichiro Fukada , Masako Hozoji-Inada , Tomoko Chiyo , Atsushi Kuga , Megumi Matsuo , Kanoko Sato , Masahiko Yamaguchi , Takahito Ito , Yoshihisa Ohtsuka , Yuki Katanosaka , Yuko Miyagoe-Suzuki , Keiji Naruse , Kazuhiro Kobayashi , Takashi Okada , Shin'ichi Takeda , Tatsushi Toda	2013-08-01	Myf5, Fktn
24256719	AGO61-dependent GlcNAc modification primes the formation of functional glycans on Î±-dystroglycan. Sci Rep Hirokazu Yagi , Naoki Nakagawa , Takuya Saito , Hiroshi Kiyonari , Takaya Abe , Tatsushi Toda , Sz-Wei Wu , Kay-Hooi Khoo , Shogo Oka , Koichi Kato	2013-01-01	B4gat1, Dag1, Large, Nes, Pomgnt2, Pomt2, Gyltl1b, Fkrp, Fktn, Pomgnt1, Ispd, Pomt1
22922256	Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. J. Clin. Invest. Aaron M Beedle , Amy J Turner , Yoshiaki Saito , John D Lueck , Steven J Foltz , Marisa J Fortunato , Patricia M Nienaber , Kevin P Campbell	2012-09-01	Myf5, Fktn

研究热度

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