文献检索文档翻译深度研究

邀请有礼套餐&价格历史记录

新学期，新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

不再提醒

插件&应用

Zotero 插件浏览器插件 Mac 客户端 Windows 客户端微信小程序

高级版

套餐订阅购买积分包

AI 工具

文献检索文档翻译深度研究

关于我们

关于 Suppr 公司介绍联系我们用户协议隐私条款

关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究

粤ICP备2023148730 号-1Suppr @ 2025

Delineating the expanding phenotype associated with SCAPER gene mutation.

作者信息

Fasham James, Arno Gavin, Lin Siying, Xu Mingchu, Carss Keren J, Hull Sarah, Lane Amelia, Robson Anthony G, Wenger Olivia, Self Jay E, Harlalka Gaurav V, Salter Claire G, Schema Lynn, Moss Timothy J, Cheetham Michael E, Moore Anthony T, Raymond F Lucy, Chen Rui, Baple Emma L, Webster Andrew R, Crosby Andrew H

机构信息

Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.

Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital (Heavitree), Exeter, United Kingdom.

出版信息

Am J Med Genet A. 2019 Aug;179(8):1665-1671. doi: 10.1002/ajmg.a.61202. Epub 2019 Jun 13.

DOI:10.1002/ajmg.a.61202

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6772143/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4bd/6772143/6a5d3cf730e2/AJMG-179-1665-g001.jpg

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4bd/6772143/6a5d3cf730e2/AJMG-179-1665-g001.jpg

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4bd/6772143/6a5d3cf730e2/AJMG-179-1665-g001.jpg

相似文献

[1]

Delineating the expanding phenotype associated with SCAPER gene mutation.

Am J Med Genet A. 2019-8

[2]

-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses.

Genes (Basel). 2024-6-16

[3]

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Am J Med Genet A. 2019-7

[4]

SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.

Am J Med Genet A. 2018-12-18

[5]

Syndromic retinitis pigmentosa caused by biallelic frameshift variant.

Ophthalmic Genet. 2024-2

[6]

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

Eur J Hum Genet. 2019-2-5

[7]

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Clin Genet. 2018-2-5

[8]

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Am J Med Genet A. 2018-9

[9]

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Hum Mutat. 2013-9-17

[10]

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

Am J Med Genet A. 2015-12

引用本文的文献

[1]

Multi-omics integration identifies molecular markers and biological pathways for carcass and meat quality traits in Nellore cattle.

Sci Rep. 2025-3-26

[2]

Soluble αβ-tubulins reversibly sequester TTC5 to regulate tubulin mRNA decay.

Nat Commun. 2024-11-17

[3]

-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses.

Genes (Basel). 2024-6-16

[4]

Enhanced Learning and Memory in Patients with Retinopathy.

Genes (Basel). 2024-5-22

[5]

A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome.

Eur J Hum Genet. 2023-12

[6]

Control of mRNA fate by its encoded nascent polypeptide.

Mol Cell. 2023-8-17

[7]

Mechanism of ribosome-associated mRNA degradation during tubulin autoregulation.

Mol Cell. 2023-7-6

[8]

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.

Biomolecules. 2023-2-1

[9]

Absence of SCAPER causes male infertility in humans and by modulating microtubule dynamics during meiosis.

J Med Genet. 2021-4

本文引用的文献

[1]

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

Eur J Hum Genet. 2019-2-5

[2]

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.

Eur J Hum Genet. 2019-1-8

[3]

SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.

Am J Med Genet A. 2018-12-18

[4]

Genetics of intellectual disability in consanguineous families.

Mol Psychiatry. 2018-1-4

[5]

Mutations in cause autosomal recessive retinitis pigmentosa with intellectual disability.

J Med Genet. 2017-9-18

[6]

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Am J Hum Genet. 2017-1-5

[7]

The Matchmaker Exchange: a platform for rare disease gene discovery.

Hum Mutat. 2015-10

[8]

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.

Hum Mutat. 2015-10

[9]

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.

Invest Ophthalmol Vis Sci. 2015-6

[10]

Bardet-Biedl syndrome.

Eur J Hum Genet. 2012-6-20

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

推荐工具

医学文档翻译智能文献检索