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非囊性纤维化相关胎粪性肠梗阻：通过快速新生儿全外显子组测序发现的 GUCY2C 相关疾病。

Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing.

机构信息

David Geffen School of Medicine at the University of California, Los Angeles (UCLA), Los Angeles, CA.

Cedars-Sinai Medical Center, Los Angeles, CA.

出版信息

J Pediatr. 2019 Aug;211:207-210. doi: 10.1016/j.jpeds.2019.04.022. Epub 2019 May 10.

DOI:10.1016/j.jpeds.2019.04.022
PMID:31079856
Abstract

Meconium ileus is caused by cystic fibrosis; however, mutations in the GUCY2C gene also cause this disease. We report non-cystic fibrosis meconium ileus in an infant of non-Middle Eastern origin with compound heterozygous mutations in GUCY2C.

摘要

先天性肠闭锁是由囊性纤维化引起的；然而，GUCY2C 基因突变也会导致这种疾病。我们报告了一例非中东起源的婴儿患有先天性肠闭锁，该患儿携带 GUCY2C 的复合杂合突变。

相似文献

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Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing.非囊性纤维化相关胎粪性肠梗阻：通过快速新生儿全外显子组测序发现的 GUCY2C 相关疾病。
J Pediatr. 2019 Aug;211:207-210. doi: 10.1016/j.jpeds.2019.04.022. Epub 2019 May 10.
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Meconium Ileus due to GUCY2C gene mutations in three unrelated South Indian families.三个不相关的南印度家庭中因GUCY2C基因突变导致的胎粪性肠梗阻
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Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.由 GUCY2C 基因突变引起的胎粪性肠梗阻，该基因编码 CFTR 激活型鸟苷酸环化酶 2C。
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引用本文的文献

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Receptor Guanylyl Cyclase C and Cyclic GMP in Health and Disease: Perspectives and Therapeutic Opportunities.受体鸟苷酸环化酶 C 和环鸟苷酸在健康和疾病中的作用：观点和治疗机会。
Front Endocrinol (Lausanne). 2022 Jun 29;13:911459. doi: 10.3389/fendo.2022.911459. eCollection 2022.
2
Gut-associated cGMP mediates colitis and dysbiosis in a mouse model of an activating mutation in GUCY2C.肠相关 cGMP 在 GUCY2C 激活突变的小鼠模型中介导结肠炎和菌群失调。
J Exp Med. 2021 Nov 1;218(11). doi: 10.1084/jem.20210479. Epub 2021 Sep 21.
3
Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach.
新型 GUCY2C 变异导致门诺派家族性腹泻及潜在治疗方法
Am J Med Genet A. 2021 Jul;185(7):2046-2055. doi: 10.1002/ajmg.a.62207. Epub 2021 May 5.
4
Mutational landscape of receptor guanylyl cyclase C: Functional analysis and disease-related mutations.受体鸟苷酸环化酶 C 的突变图谱：功能分析和与疾病相关的突变。
IUBMB Life. 2020 Jun;72(6):1145-1159. doi: 10.1002/iub.2283. Epub 2020 Apr 15.