COL7A1 - collagen type VII alpha 1 chain-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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1294 COL7A1

基因描述

Type	Description
Definition	collagen type VII alpha 1 chain

研究结论

Date	Results	Publications
2021-02-27 13:48:00	Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in COL7A1.	33081018
2021-02-13 13:29:00	A novel mutation of COL7A1 in a Chinese DEB-Pt family and review of the literature.	31709745
2020-03-28 10:13:00	Our strategy could potentially be extended to a large number of COL7A1 mutation-bearing exons within the long collagenous domain of this gene, opening the way to precision medicine for Recessive Dystrophic Epidermolysis Bullosa	30930113
2019-08-31 12:11:00	Study reports novel COL7A1 mutation c.5327G>T (p.G1776V) in patient with dominant dystrophic epidermolysis bullosa-bullous dermolysis of the newborn whose affected family members had typical dominant dystrophic epidermolysis bullosa, nails only.	29574987
2019-08-24 10:56:00	In summary, we have found a novel mutation of COL7A1 gene in Chinese patients with DEBPr.	29512192

名称对应

Type	IDs
Synonymous	EBD1, EBDCT, EBR1, NDNC8
Gene	UniProtKB-ID: CO7A1_HUMAN, Q59F16_HUMAN UniprotKB: Q02388, Q59F16 UniParc: UPI0000F53472, UPI0000126D20, UPI00004F6D9F EMBL: S51236, L02870, AB209645, M96984, L06862, M65158, D13694, L23982 Ensembl: ENSG00000114270 KO: hsa:1294
Nucleutide sequences	EMBL-CDS: AAA75438.1, BAA02853.1, AAA36357.2, AAB24637.1, AAA89196.1, AAA96439.1, AAA58965.1, BAD92882.1 Ensembl_TRS: ENST00000328333
Protein sequencees	Ensembl_PRO: ENSP00000332371 RefSeq: XP_016861181.1, XP_016861179.1, XP_016861180.1, NP_000085.1, XP_016861177.1, XP_016861178.1
Others	UniRef100: UniRef100_Q02388, UniRef100_Q59F16 UniRef90: UniRef90_Q02388, UniRef90_Q59F16 UniRef50: UniRef50_Q02388, UniRef50_Q59F16 UniGene: Hs.476218 CCDS: CCDS2773.1

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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
33081018	Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in COL7A1. Int J Mol Sci Kristin A Ham , May Thandar Aung-Htut , Sue Fletcher , Steve D Wilton	2020-10-18	-
31709745	A novel mutation of COL7A1 in a Chinese DEB-Pt family and review of the literature. J Cosmet Dermatol Ling Jin , Zhi Li , Cong Xin , Lili Tang , Xuejun Zhang , Bo Zhang , Sen Yang	2020-06-01	-
30930113	Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing. Mol. Ther. Jose Bonafont , Ãngeles MencÃa , Marta GarcÃa , RaÃºl Torres , Sandra RodrÃguez , Marta Carretero , Esteban ChacÃ³n-Solano , Silvia Modamio-HÃ¸ybjÃ¸r , LucÃa Marinas , Carlos LeÃ³n , MarÃa J Escamez , Ingrid Hausser , Marcela Del RÃo , Rodolfo Murillas , Fernando Larcher	2019-05-08	-
29512197	Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India - implications on diagnosis, prognosis and prenatal testing. J Eur Acad Dermatol Venereol R Mahajan , S K Vellarikkal , S Handa , A Verma , R Jayarajan , A Kumar , D De , J Kaur , I Panigrahi , V S Vineeth , S Sivasubbu , V Scaria	2018-12-01	-
29512192	The clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa. J Eur Acad Dermatol Venereol Y-Z Mu , Z-C Du , Z-Z Zhang , H Yang , X Chen , Y-B Wang , L-L Liu	2018-10-01	-
29574987	Novel COL7A1 mutation in a family with bullous dermolysis of the newborn: Phenotypic variability associated with a COL7A1 mutation within the same family. J. Dermatol. Shota Takashima , Satoru Shinkuma , Yasuyuki Fujita , Ken Natsuga , Toshifumi Nomura , Tokimasa Hida , Shuku Ishikawa , Hideki Nakamura , Riichiro Abe , Hiroshi Shimizu	2018-09-01	-
29473190	Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico. Clin. Exp. Dermatol. A H Saeidian , L Youssefian , M G Moreno Trevino , G Fortuna , H Vahidnezhad , V S Atanasova , J Uitto , J C Salas-Alanis , A P South	2018-07-01	-
29182795	Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations. Acta Derm. Venereol. Liliana Guerra , Angelo Giuseppe Condorelli , Paola Fortugno , Valentina Calabresi , Cristina Pedicelli , Giovanni Di Zenzo , Daniele Castiglia	2018-04-16	-
29504492	Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa. Pediatr. Dev. Pathol. Gordon I Hale , Marta C Cohen , Oliver W Quarrell , John A McGrath , Andrew G Messenger	2018-03-04	-
29499655	Identification of novel enriched recurrent chimeric COL7A1-UCN2 in human laryngeal cancer samples using deep sequencing. BMC Cancer Ye Tao , Neil Gross , Xiaojiao Fan , Jianming Yang , Maikun Teng , Xu Li , Guojun Li , Yang Zhang , Zhigang Huang	2018-03-02	-

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