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Comment to the Description of a Novel Cohesinopathy in Chronic Intestinal Pseudo Obstruction.

作者信息

Bonora Elena, Bianco Francesca, Giorgio Roberto De

机构信息

Department of Medical and Surgical Sciences, IRCCS Azienda Ospedaliero-Universitaria di Bologna, University of Bologna, Italy.

Department of Veterinary Medical Sciences, University of Bologna, Italy.

出版信息

J Neurogastroenterol Motil. 2022 Jul 30;28(3):501-502. doi: 10.5056/jnm22017.

DOI:10.5056/jnm22017
PMID:35799243
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9274473/
Abstract
摘要

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本文引用的文献

1
A Novel Cohesinopathy Causing Chronic Intestinal Pseudo Obstruction in 2 Siblings and Literature Review.一种导致两名兄弟姐妹慢性假性肠梗阻的新型黏连蛋白病及文献综述
J Neurogastroenterol Motil. 2021 Jul 30;27(3):436-437. doi: 10.5056/jnm20259.
2
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.LIG3 中的双等位基因变异导致新型线粒体神经胃肠脑肌病。
Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056.
3
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.ACTG2基因的变异与慢性肠假性梗阻的严重程度和巨膀胱的存在相关。
Eur J Hum Genet. 2016 Aug;24(8):1211-5. doi: 10.1038/ejhg.2015.275. Epub 2016 Jan 27.
4
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.RAD21基因的突变会破坏慢性肠道假性梗阻患者中载脂蛋白B的调控。
Gastroenterology. 2015 Apr;148(4):771-782.e11. doi: 10.1053/j.gastro.2014.12.034. Epub 2015 Jan 6.
5
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.SGOL1 基因突变导致一种新型黏连蛋白病，影响心脏和肠道节律。
Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. Epub 2014 Oct 5.
6
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.平滑肌肌动蛋白（ACTG2）基因的杂合性新生突变和遗传突变是巨膀胱-小结肠-肠蠕动不良综合征的病因。
PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar.
7
New perspectives in the diagnosis and management of enteric neuropathies.肠神经病变的诊断和治疗新视角。
Nat Rev Gastroenterol Hepatol. 2013 Apr;10(4):206-18. doi: 10.1038/nrgastro.2013.18. Epub 2013 Feb 12.
8
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.肠平滑肌肌球蛋白γ-2 错义变异与常染色体显性家族性内脏肌病的分离。
Gastroenterology. 2012 Dec;143(6):1482-1491.e3. doi: 10.1053/j.gastro.2012.08.045. Epub 2012 Sep 6.
9
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.Xq28重复综合征表现为肠道和膀胱功能障碍及独特面容。
Eur J Hum Genet. 2009 Apr;17(4):434-43. doi: 10.1038/ejhg.2008.192. Epub 2008 Oct 15.
10
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.在伴有中枢神经系统受累的X连锁慢性特发性肠道假性梗阻中，细丝蛋白A发生了突变。
Am J Hum Genet. 2007 Apr;80(4):751-8. doi: 10.1086/513321. Epub 2007 Feb 26.