一名因甘氨酸164丝氨酸C1qC突变导致纯合C1q缺陷的患者出现罗思蒙德-汤姆森综合征和肾小球肾炎。 - Suppr

Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.

作者信息

López-Lera Alberto, Torres-Canizales Juan M, Garrido Sofía, Morales Adelaida, López-Trascasa Margarita

机构信息

Immunology Unit and Institute for Health Research (IdiPAZ) at La Paz University Hospital, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.

Immunology Unit and Institute for Health Research (IdiPAZ) at La Paz University Hospital, Madrid, Spain.

出版信息

J Invest Dermatol. 2014 Apr;134(4):1152-1154. doi: 10.1038/jid.2013.444. Epub 2013 Oct 24.

DOI:10.1038/jid.2013.444

PMID:24157463

Abstract

摘要

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Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.一名因甘氨酸164丝氨酸C1qC突变导致纯合C1q缺陷的患者出现罗思蒙德-汤姆森综合征和肾小球肾炎。

J Invest Dermatol. 2014 Apr;134(4):1152-1154. doi: 10.1038/jid.2013.444. Epub 2013 Oct 24.

A Rothmund-Thomson case with hypertension.一例伴有高血压的罗思蒙德-汤姆森综合征病例。

Clin Genet. 1983 Oct;24(4):266-72. doi: 10.1111/j.1399-0004.1983.tb00081.x.

Familial C1q deficiency associated with renal and cutaneous disease.与肾脏和皮肤疾病相关的家族性C1q缺乏症。

Clin Exp Immunol. 1981 Apr;44(1):173-80.

The ophthalmic manifestations of Rothmund's syndrome.罗思蒙德综合征的眼部表现。

Can J Ophthalmol. 1975 Jan;10(1):1-14.

[Rothmund-Thomson syndrome (case report)].[罗思蒙德-汤姆森综合征（病例报告）]

Beitr Orthop Traumatol. 1986 Aug;33(8):369-74.

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.与8号染色体三体镶嵌现象相关的罗思蒙德-汤姆森综合征。

J Med Genet. 1990 Apr;27(4):258-60. doi: 10.1136/jmg.27.4.258.

[Rothmund-Thomson syndrome. Apropos of 4 cases].[罗思蒙德 - 汤姆森综合征。附4例报告]

Ann Pediatr (Paris). 1988 Sep;35(7):501-6.

[Rothmund's syndrome: observations in one case].[罗思蒙德综合征：1例观察报告]

J Genet Hum. 1976 Nov;24 Suppl:151-64.

Rothmund-Thomson syndrome in two siblings.两名兄弟姐妹患罗思蒙德-汤姆森综合征。

Pediatr Dermatol. 1989 Dec;6(4):325-8. doi: 10.1111/j.1525-1470.1989.tb00919.x.

An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome.

Mutat Res. 2002 Oct 31;508(1-2):99-105. doi: 10.1016/s0027-5107(02)00189-6.

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Functional complement C1q abnormality leads to impaired immune complexes and apoptotic cell clearance.功能补体 C1q 异常导致免疫复合物和凋亡细胞清除受损。

J Immunol. 2011 Oct 15;187(8):4369-73. doi: 10.4049/jimmunol.1101749. Epub 2011 Sep 19.

Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations.遗传性 C1q 缺陷的分子基础——再探：几种新的致病突变的鉴定。

Genes Immun. 2011 Dec;12(8):626-34. doi: 10.1038/gene.2011.39. Epub 2011 Jun 9.

Rothmund-Thomson syndrome.Rothmund-Thomson 综合征。

Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2.

The crystal structure of the globular head of complement protein C1q provides a basis for its versatile recognition properties.补体蛋白C1q球状头部的晶体结构为其多样的识别特性提供了基础。

J Biol Chem. 2003 Nov 21;278(47):46974-82. doi: 10.1074/jbc.M307764200. Epub 2003 Sep 5.

Mice lacking DNA topoisomerase IIIbeta develop to maturity but show a reduced mean lifespan.缺乏DNA拓扑异构酶IIIβ的小鼠能够发育成熟，但平均寿命缩短。

Proc Natl Acad Sci U S A. 2001 May 8;98(10):5717-21. doi: 10.1073/pnas.101132498. Epub 2001 May 1.

Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies.纯合子C1q缺乏会导致与多个凋亡小体相关的肾小球肾炎。

Nat Genet. 1998 May;19(1):56-9. doi: 10.1038/ng0598-56.

Familial C1q deficiency associated with renal and cutaneous disease.与肾脏和皮肤疾病相关的家族性C1q缺乏症。

Clin Exp Immunol. 1981 Apr;44(1):173-80.

Dominantly inherited glomerulonephritis and an unusual skin disease.显性遗传性肾小球肾炎及一种罕见的皮肤病。

Arch Dis Child. 1987 Dec;62(12):1278-80. doi: 10.1136/adc.62.12.1278.

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Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.

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