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使用“发育迟缓”在脆性 X 智力低下基因 1(FRAXA)、 fragile X 相关蛋白(FMRP)、 fragile X 智力低下基因 1(FMR1) 和其他命名中。

The Use of "Retardation" in FRAXA, FMRP, FMR1 and Other Designations.

机构信息

Faculty of Law, Oxford University, Oxford OX1 3UL, UK.

The Fragile X Society, Great Dunmow CM6 1DA, UK.

出版信息

Cells. 2022 Mar 19;11(6):1044. doi: 10.3390/cells11061044.


DOI:10.3390/cells11061044
PMID:35326495
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8947541/
Abstract

The European Fragile X Network met in Wroclaw, Poland, November 2021, and agreed to work towards the eradication of the word "retardation" in regard to the naming of the fragile X gene (FRAXA) and protein (FMRP). There are further genes which have "retardation" or abbreviations for "retardation" in their names or full designations, including FMR1, FMR2, FXR1, FXR2, NUFIP1, AFF1, CYFIP1, etc. "Retardation" was commonly used as a term in years past, but now any reference, even in an abbreviation, is offensive. This article discusses the stigmatisation associated with "retardation", which leads to discrimination; the inaccuracy of using "retardation" in these designations; and the breadth of fragile X syndrome being beyond that of neurodiversity. A more inclusive terminology is called for, one which ceases to use any reference to "retardation". Precedents for offensive gene names being altered is set out. The proposal is to approach the HGNC (HUGO [Human Genome Organisation] Gene Nomenclature Committee) for new terminology to be enacted. Ideas from other researchers in the field are welcomed.

摘要

欧洲脆性 X 网络于 2021 年 11 月在波兰弗罗茨瓦夫举行会议,会上一致同意努力消除脆性 X 基因(FRAXA)和蛋白(FMRP)命名中“智力迟钝”一词。还有其他一些基因的名称或全称中带有“智力迟钝”或其缩写,包括 FMR1、FMR2、FXR1、FXR2、NUFIP1、AFF1、CYFIP1 等。“智力迟钝”一词在过去曾被广泛使用,但现在任何提及,即使是缩写,也会被视为冒犯。本文讨论了与“智力迟钝”相关的污名化问题,这种污名化会导致歧视;在这些命名中使用“智力迟钝”是不准确的;脆性 X 综合征的范围超出了神经多样性。因此需要使用更具包容性的术语,不再使用任何与“智力迟钝”相关的词汇。本文还列出了修改冒犯性基因名称的先例。建议向 HGNC(HUGO [人类基因组组织]基因命名委员会)提出新的术语建议。欢迎该领域的其他研究人员提出想法。

相似文献

[1]
The Use of "Retardation" in FRAXA, FMRP, FMR1 and Other Designations.

Cells. 2022-3-19

[2]
Comment on Herring et al. The Use of "Retardation" in FRAXA, FMRP, FMR1 and Other Designations. 2022, , 1044.

Cells. 2022-6-16

[3]
Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse models.

J Neurophysiol. 2009-5

[4]
Expression of FMR1, FXR1, and FXR2 genes in human prenatal tissues.

J Neuropathol Exp Neurol. 1999-8

[5]
Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2.

PLoS One. 2010-11-2

[6]
Expression of fragile X mental retardation-1 gene with nuclear export signal mutation changes the expression profiling of mouse cerebella immortal neuronal cell.

Proteomics. 2005-10

[7]
The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.

EMBO J. 1995-11-1

[8]
Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice.

Hum Mol Genet. 2012-12-18

[9]
microRNAs and Fragile X Syndrome.

Adv Exp Med Biol. 2015

[10]
Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.

ASN Neuro. 2014-9-23

引用本文的文献

[1]
From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research.

Biomedicines. 2025-3-27

[2]
C G composition in transposon-derived genes is increased in FXD with perturbed immune system.

NAR Mol Med. 2024-10-10

[3]
Septotemporal Variation of Information Processing in the Hippocampus of Fmr1 KO Rat.

Dev Neurosci. 2024

[4]
Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study.

J Community Genet. 2023-8

[5]
Mouse models of fragile X-related disorders.

Dis Model Mech. 2023-2-1

[6]
Inhibition of glycogen synthase kinase 3 by lithium, a mechanism in search of specificity.

Front Mol Neurosci. 2022-11-24

[7]
Combining affinity purification and mass spectrometry to define the network of the nuclear proteins interacting with the N-terminal region of FMRP.

Front Mol Biosci. 2022-9-27

[8]
Divergent presentation of anxiety in high-risk groups within the intellectual disability population.

J Neurodev Disord. 2022-10-5

[9]
FMRP, a multifunctional RNA-binding protein in quest of a new identity.

Front Genet. 2022-8-10

[10]
Comment on Herring et al. The Use of "Retardation" in FRAXA, FMRP, FMR1 and Other Designations. 2022, , 1044.

Cells. 2022-6-16

本文引用的文献

[1]
Fragile X Premutation Associated Conditions (FXPAC).

Front Pediatr. 2020-5-27

[2]
Fragile X mental retardation 1 gene enhances the translation of large autism-related proteins.

Science. 2018-8-17

[3]
Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.

Pediatrics. 2017-6

[4]
Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells.

Stem Cells. 2017-1

[5]
Erasing stigma is much more than changing words.

Psychiatr Serv. 2014-10

[6]
The DSM-5: Classification and criteria changes.

World Psychiatry. 2013-6

[7]
What's in a name? Attitudes surrounding the use of the term 'mental retardation'.

Paediatr Child Health. 2012-2

[8]
Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator.

J Hum Genet. 2001

[9]
FMR1 protein: conserved RNP family domains and selective RNA binding.

Science. 1993-10-22

[10]
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

Cell. 1991-5-31

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