The interface of genetics with pathology in alport nephritis.
作者信息
Liapis Helen, Jain Sanjay
机构信息
Department of Pathology and Immunology, and Renal Division, Department of Internal Medicine, Washington University School of Medicine, Saint Louis, Missouri.
出版信息
J Am Soc Nephrol. 2013 Dec;24(12):1925-7. doi: 10.1681/ASN.2013080913. Epub 2013 Sep 26.
Abstract
摘要
相似文献
1
The interface of genetics with pathology in alport nephritis.遗传性肾炎中遗传学与病理学的联系
J Am Soc Nephrol. 2013 Dec;24(12):1925-7. doi: 10.1681/ASN.2013080913. Epub 2013 Sep 26.
2
Clinical utility gene card for: Alport syndrome - update 2014.阿尔波特综合征临床实用基因卡 - 2014年更新版
Eur J Hum Genet. 2015 Sep;23(9). doi: 10.1038/ejhg.2014.254. Epub 2014 Nov 12.
3
Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome.一个患有常染色体隐性遗传性奥尔波特综合征的近亲家族中的新型COL4A3基因突变。
Nephrology (Carlton). 2015 Aug;20(8):580. doi: 10.1111/nep.12430.
4
Could This Be Alport Syndrome?这会是奥尔波特综合征吗？
Clin J Am Soc Nephrol. 2021 Nov;16(11):1743-1745. doi: 10.2215/CJN.00120121. Epub 2021 Apr 13.
5
A preclinical model for phenogroup 3 HFpEF.3型射血分数保留的心力衰竭（HFpEF）的临床前模型。
Aging (Albany NY). 2019 Jul 15;11(13):4305-4307. doi: 10.18632/aging.102102.
6
Alport syndrome in a Kazakh family: a case study.一个哈萨克族家庭中的阿尔波特综合征：病例研究
J Genet. 2014 Dec;93(3):855-8. doi: 10.1007/s12041-014-0448-y.
7
Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome.患有常染色体隐性遗传性阿尔波特综合征的非裔美国同胞中的新型COL4A3突变。
Am J Kidney Dis. 2008 May;51(5):e25-8. doi: 10.1053/j.ajkd.2007.09.028. Epub 2008 Apr 2.
8
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.COL4A3/COL4A4 基因突变及常染色体隐性遗传型 Alport 综合征的特征。
J Am Soc Nephrol. 2013 Dec;24(12):1945-54. doi: 10.1681/ASN.2012100985. Epub 2013 Sep 19.
9
A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers.COL4A3基因的一种新突变导致常染色体显性遗传性奥尔波特综合征，该突变仅在部分携带者中引发听力丧失。
Eur J Med Genet. 2015 Jan;58(1):35-8. doi: 10.1016/j.ejmg.2014.10.003. Epub 2014 Oct 28.
10
Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.IV型胶原肾病的常染色体显性遗传形式存在于临床病理诊断困难的遗传性肾炎患者中。
Nephrology (Carlton). 2018 Oct;23(10):940-947. doi: 10.1111/nep.13115.
引用本文的文献
1
Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.对经活检证实为 FSGS 的有家族性血尿的中国儿童进行遗传突变检测。
Mol Med Rep. 2018 Jan;17(1):1513-1526. doi: 10.3892/mmr.2017.8023. Epub 2017 Nov 10.
2
Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.常规使用基于临床外显子组的下一代测序技术评估血栓性微血管病患者。
Mod Pathol. 2017 Dec;30(12):1739-1747. doi: 10.1038/modpathol.2017.90. Epub 2017 Jul 28.
本文引用的文献
1
Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.结合临床病理信息的靶向外显子组测序揭示了Alport综合征或蛋白尿非典型、疑似和不明病例中的新的罕见突变。
PLoS One. 2013 Oct 10;8(10):e76360. doi: 10.1371/journal.pone.0076360. eCollection 2013.
2
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.COL4A3/COL4A4 基因突变及常染色体隐性遗传型 Alport 综合征的特征。
J Am Soc Nephrol. 2013 Dec;24(12):1945-54. doi: 10.1681/ASN.2012100985. Epub 2013 Sep 19.
3
The renal biopsy in the genomic era.基因组时代的肾活检。
Pediatr Nephrol. 2013 Aug;28(8):1207-19. doi: 10.1007/s00467-012-2356-9. Epub 2012 Nov 21.
4
Alport syndrome--insights from basic and clinical research.阿波特综合征——基础与临床研究的新视角。
Nat Rev Nephrol. 2013 Mar;9(3):170-8. doi: 10.1038/nrneph.2012.259. Epub 2012 Nov 20.
5
Plasma leakage through glomerular basement membrane ruptures triggers the proliferation of parietal epithelial cells and crescent formation in non-inflammatory glomerular injury.通过肾小球基底膜破裂的血浆渗漏引发了壁层上皮细胞的增殖以及非炎症性肾小球损伤中的新月体形成。
J Pathol. 2012 Dec;228(4):482-94. doi: 10.1002/path.4046. Epub 2012 Jul 26.
6
Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative.临床实践中治疗 Alport 综合征的建议：Alport 综合征研究协作组的声明。
Pediatr Nephrol. 2013 Jan;28(1):5-11. doi: 10.1007/s00467-012-2138-4. Epub 2012 Mar 30.
7
Advances in Alport syndrome diagnosis using next-generation sequencing.利用新一代测序技术提高 Alport 综合征的诊断水平。
Eur J Hum Genet. 2012 Jan;20(1):50-7. doi: 10.1038/ejhg.2011.164. Epub 2011 Sep 7.
8
Molecular testing for adult type Alport syndrome.成人型 Alport 综合征的分子检测。
BMC Nephrol. 2009 Nov 17;10:38. doi: 10.1186/1471-2369-10-38.
9
The renal lesions of Alport syndrome.奥尔波特综合征的肾脏病变。
J Am Soc Nephrol. 2009 Jun;20(6):1210-5. doi: 10.1681/ASN.2008090984. Epub 2009 May 21.
10
COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.在薄基底膜肾病中产生局灶节段性肾小球硬化和肾衰竭的COL4A3/COL4A4突变。
J Am Soc Nephrol. 2007 Nov;18(11):3004-16. doi: 10.1681/ASN.2007040444. Epub 2007 Oct 17.
Zotero 插件