某基因的隐性突变导致具有正常纤毛超微结构的原发性纤毛运动障碍。 - Suppr

Recessive Mutations in Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.

作者信息

Biebach Luisa, Cindrić Sandra, Koenig Julia, Aprea Isabella, Dougherty Gerard W, Raidt Johanna, Bracht Diana, Ruppel Renate, Schreiber Jens, Hjeij Rim, Olbrich Heike, Omran Heymut

机构信息

University Children's Hospital Muenster Muenster, Germany.

University Hospital Erlangen Erlangen, Germany.

出版信息

Am J Respir Cell Mol Biol. 2022 Sep;67(3):409-413. doi: 10.1165/rcmb.2022-0032LE.

DOI:10.1165/rcmb.2022-0032LE

PMID:36047773

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9447143/

Abstract

摘要

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Recessive Mutations in Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.某基因的隐性突变导致具有正常纤毛超微结构的原发性纤毛运动障碍。

Am J Respir Cell Mol Biol. 2022 Sep;67(3):409-413. doi: 10.1165/rcmb.2022-0032LE.

Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.分子医学时代透射电子显微镜在原发性纤毛运动障碍诊断中的价值：具有正常和非诊断性纤毛超微结构的遗传缺陷

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Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19.

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.原发性纤毛运动障碍患者东欧队列中放射辐条头基因的突变和超微结构纤毛缺陷。

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Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.RSPH1 基因功能丧失性突变导致中央复合体和辐条缺陷的原发性纤毛运动障碍。

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Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.原发性纤毛运动障碍：超微结构缺陷和基因型对肺部疾病的纵向研究。

Am J Respir Crit Care Med. 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC.

Movement.运动。

Paediatr Respir Rev. 2017 Sep;24:19-20. doi: 10.1016/j.prrv.2017.06.005. Epub 2017 Jun 12.

Gene mutations in primary ciliary dyskinesia related to otitis media.原发性纤毛运动障碍相关的中耳炎基因突变。

Curr Allergy Asthma Rep. 2014 Mar;14(3):420. doi: 10.1007/s11882-014-0420-1.

CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.CCDC65 突变导致超微结构正常但纤毛运动亢进的原发性纤毛运动障碍。

PLoS One. 2013 Aug 26;8(8):e72299. doi: 10.1371/journal.pone.0072299. eCollection 2013.

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.与正常轴丝超微结构相关的原发性纤毛运动障碍由DNAH11突变引起。

Hum Mutat. 2008 Feb;29(2):289-98. doi: 10.1002/humu.20656.

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Front Mol Biosci. 2025 Mar 20;12:1547152. doi: 10.3389/fmolb.2025.1547152. eCollection 2025.

Pathogenic variants in , , and cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.、、和中的致病变异会导致原发性纤毛运动障碍，并伴有中央微管的C1d投影缺陷。

Eur Respir J. 2024 Dec 12;64(6). doi: 10.1183/13993003.00790-2024. Print 2024 Dec.

Primary Ciliary Dyskinesia: A Clinical Review.原发性纤毛运动障碍：临床综述。

Cells. 2024 Jun 4;13(11):974. doi: 10.3390/cells13110974.

[Primary ciliary dyskinesia].[原发性纤毛运动障碍]

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J Clin Med. 2023 Sep 16;12(18):6010. doi: 10.3390/jcm12186010.

as a Model Organism to Study the Molecular Background of Human Motile Ciliopathies.作为一种研究人类运动纤毛疾病分子背景的模式生物。

Int J Mol Sci. 2023 Feb 24;24(5):4472. doi: 10.3390/ijms24054472.

本文引用的文献

Central Apparatus, the Molecular Kickstarter of Ciliary and Flagellar Nanomachines.中央机构：纤毛和鞭毛纳米机器的分子启动器。

Int J Mol Sci. 2021 Mar 16;22(6):3013. doi: 10.3390/ijms22063013.

Motile ciliopathies.动力毛细胞疾病。

Nat Rev Dis Primers. 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6.

Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.CFAP74 的双等位基因突变可能导致人类原发性纤毛运动障碍和 MMAF 表型。

J Hum Genet. 2020 Nov;65(11):961-969. doi: 10.1038/s10038-020-0790-2. Epub 2020 Jun 18.

Limitations of Nasal Nitric Oxide Testing in Primary Ciliary Dyskinesia.原发性纤毛运动障碍中鼻一氧化氮检测的局限性

Am J Respir Crit Care Med. 2020 Aug 1;202(3):476-477. doi: 10.1164/rccm.202003-0835LE.

Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD.导致鞭毛和纤毛桥之间不同缺陷的 SPEF2 中的新突变：MMAF 和 PCD 之间的表型联系。

Hum Genet. 2020 Feb;139(2):257-271. doi: 10.1007/s00439-020-02110-0. Epub 2020 Jan 16.

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.FOXJ1 中的新生突变导致伴有脑积水的能动纤毛病和左右体对称性随机化。

Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. doi: 10.1016/j.ajhg.2019.09.022. Epub 2019 Oct 17.

and -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.并且 - 突变的纤毛缺乏中央对相关蛋白 SPEF2，有助于原发性纤毛运动障碍的诊断。

Am J Respir Cell Mol Biol. 2020 Mar;62(3):382-396. doi: 10.1165/rcmb.2019-0086OC.

Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF).SPEF2 基因功能丧失性突变导致精子鞭毛多发形态异常（MMAF）。

J Med Genet. 2019 Oct;56(10):678-684. doi: 10.1136/jmedgenet-2018-105952. Epub 2019 May 31.

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.原发性纤毛运动障碍的诊断。美国胸科学会临床实践指南。

Am J Respir Crit Care Med. 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST.

Advances in the Genetics of Primary Ciliary Dyskinesia: Clinical Implications.原发性纤毛运动障碍的遗传学进展：临床意义。

Chest. 2018 Sep;154(3):645-652. doi: 10.1016/j.chest.2018.05.007. Epub 2018 May 22.

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Recessive Mutations in Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.

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