CDHR1 - cadherin related family member 1-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

收藏

92211 CDHR1

基因描述

Type	Description
Definition	cadherin related family member 1

研究结论

Date	Results	Publications
2021-01-16 15:58:00	Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.	32277948
2019-12-28 10:53:00	Patients with biallelic c.783G>A CDHR1 mutations demonstrate a retinal phenotype consistent with autosomal recessive central areolar choroidal dystrophy (CACD).	31387115
2019-12-14 10:48:00	our study is the first to indicate that the novel homozygous variant c.T1641A (p.Y547*) in the CHDR1 gene might be the disease-causing mutation for retinal dystrophy in our patient, extending its mutation spectrums.	30160356
2019-02-09 10:20:00	Mutations in CDHR1 are a rare cause of retinal dystrophy. This study further expands the mutational spectrum of this gene and the associated clinical presentation.	28765526
2018-03-31 10:22:00	CDHR1-related retinal dystrophy should be considered in adult patients with a retinal dystrophy who present with symptoms of cone-and-rod dysfunction and macular atrophy on ophthalmoscopic examination.	28885867

名称对应

Type	IDs
Synonymous	CORD15, PCDH21, PRCAD, RP65
Gene	UniProtKB-ID: CDHR1_HUMAN, F1T0L2_HUMAN UniprotKB: Q96JP9, F1T0L2 UniParc: UPI0000161C2F, UPI000007430F EMBL: AL080188, AC022389, AB593155, AB593154, BC038799, AB053448, CH471142 Ensembl: ENSG00000148600 KO: hsa:92211
Nucleutide sequences	EMBL-CDS: BAB61905.1, AAH38799.1, CAH10732.1, EAW80362.1, BAJ84087.1, BAJ84086.1 Gene_ORFName: hCG_1811065 Ensembl_TRS: ENST00000332904, ENST00000623527
Protein sequencees	Ensembl_PRO: ENSP00000331063, ENSP00000485478 RefSeq: XP_011538640.1, NP_149091.1, XP_011538641.1, XP_011538642.1, NP_001165442.1, XP_011538639.1
Others	UniRef100: UniRef100_Q96JP9 UniRef90: UniRef90_Q96JP9 UniRef50: UniRef50_Q96JP9 UniGene: Hs.137556, Hs.660813 CCDS: CCDS53548.1, CCDS7372.1

全选

{{proteinIndex+1}}

mRNA

Protein

UniprotKB

Description

Refseq

{{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}

Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location

( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

收藏到我的文献

全选

Pubmed编号	文献信息	发表日期	相关基因
32277948	Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa. Clin Chim Acta Li Gan , Chen Yang , Yi Shu , Fang Liu , Ruiting Sun , Bolin Deng , Jiaxin Xu , Guo Huang , Chao Qu , Bo Gong , Jing Li	2020-08-01	-
31387115	A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping. Invest Ophthalmol Vis Sci Peter Charbel Issa , Martin Gliem , Imran H Yusuf , Johannes Birtel , Philipp L MÃ¼ller , Elisabeth Mangold , Susan M Downes , Robert E MacLaren , Christian Betz , Hanno J Bolz	2019-08-01	-
30160356	A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis. J Cell Mol Med Jiewen Fu , Lu Ma , Jingliang Cheng , Lisha Yang , Chunli Wei , Shangyi Fu , Hongbin Lv , Rui Chen , Junjiang Fu	2018-11-01	-
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-
28885867	Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature. Ophthalmic Genet. A P Bessette , M J DeBenedictis , E I Traboulsi	2017-09-08	-
28765526	CDHR1 mutations in retinal dystrophies. Sci Rep Katarina Stingl , Anja K Mayer , Pablo Llavona , Lejla Mulahasanovic , GÃ¼nther Rudolph , Samuel G Jacobson , Eberhart Zrenner , Susanne Kohl , Bernd Wissinger , Nicole Weisschuh	2017-08-01	-
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
27623334	Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1. Invest Ophthalmol Vis Sci Gavin Arno , Sarah Hull , Keren Carss , Arundhati Dev-Borman , Christina Chakarova , Kinga Bujakowska , L Ingeborgh van den Born , Anthony G Robson , Graham E Holder , Michel Michaelides , Frans P M Cremers , Eric Pierce , F Lucy Raymond , Anthony T Moore , Andrew R Webster	2016-09-01	-
26350383	Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy. Sci Rep Konstantinos Nikopoulos , Almudena Avila-Fernandez , Marta Corton , Maria Isabel Lopez-Molina , Raquel Perez-Carro , Lara Bontadelli , Silvio Alessandro Di Gioia , Olga Zurita , Blanca Garcia-Sandoval , Carlo Rivolta , Carmen Ayuso	2015-01-01	-
24265541	Clinical characteristics of early retinal disease due to CDHR1 mutation. Mol. Vis. Rola Ba-Abbad , Panagiotis I Sergouniotis , Vincent Plagnol , Anthony G Robson , Michel Michaelides , Graham E Holder , Andrew R Webster	2013-01-01	CDHR1

研究热度

热点单位

排名	科研单位	文献
{{affIndex+1}}	{{aff.value}}	{{aff.size}}

目前还没有研究热点单位

热点人员

排名	研究人员	文献
{{authorIndex+1}}	{{author.value}}	{{author.size}}

目前还没有研究热点人员

© 2017 biocloud.net版权所有 ICP证：京10042835号