Inherited amyloidosis.
作者信息
Benson M D
机构信息
Department of Medicine, Indiana University School of Medicine, Indianapolis 46223.
出版信息
J Med Genet. 1991 Feb;28(2):73-8. doi: 10.1136/jmg.28.2.73.
Abstract
摘要
相似文献
1
Inherited amyloidosis.遗传性淀粉样变性
J Med Genet. 1991 Feb;28(2):73-8. doi: 10.1136/jmg.28.2.73.
2
Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin.凝溶胶蛋白相关淀粉样变性。芬兰遗传性淀粉样变性中淀粉样蛋白被鉴定为变异型凝溶胶蛋白的一个片段。
J Clin Invest. 1991 Apr;87(4):1195-9. doi: 10.1172/JCI115118.
3
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.芬兰遗传性淀粉样变性是由凝溶胶蛋白基因中的单个核苷酸替换引起的。
FEBS Lett. 1990 Dec 10;276(1-2):75-7. doi: 10.1016/0014-5793(90)80510-p.
4
5
Mutation in gelsolin gene in Finnish hereditary amyloidosis.芬兰遗传性淀粉样变性中凝溶胶蛋白基因的突变
J Exp Med. 1990 Dec 1;172(6):1865-7. doi: 10.1084/jem.172.6.1865.
6
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.芬兰型家族性淀粉样变性中的凝溶胶蛋白变体（Asn-187）。
Biochem J. 1990 Dec 15;272(3):827-30. doi: 10.1042/bj2720827.
7
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type.芬兰型家族性淀粉样变性特异性循环65K凝溶胶蛋白变体的证实。
Biochem Biophys Res Commun. 1993 Feb 26;191(1):41-4. doi: 10.1006/bbrc.1993.1181.
8
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein.家族性淀粉样变性（芬兰型）中的淀粉样蛋白与凝溶胶蛋白（一种肌动蛋白结合蛋白）同源。
Biochem Biophys Res Commun. 1990 Mar 30;167(3):927-32. doi: 10.1016/0006-291x(90)90612-q.
9
Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I.排除9q32 - 34上的凝溶胶蛋白基因作为I型家族性格子状角膜营养不良病因的可能性。
Am J Hum Genet. 1992 Jul;51(1):156-60.
10
Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.芬兰型家族性淀粉样变性中凝溶胶蛋白Asn187突变的纯合性与严重肾脏疾病相关。
Genomics. 1992 Jul;13(3):902-3. doi: 10.1016/0888-7543(92)90183-s.
引用本文的文献
1
2
Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?当代肥厚型心肌病遗传学研究进展：是否即将开启临床检测新纪元？
J Am Heart Assoc. 2020 Apr 21;9(8):e015473. doi: 10.1161/JAHA.119.015473. Epub 2020 Apr 18.
3
Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.利用大规模基因表达分析预测基因-表型关联，提高外显子组测序的诊断产量。
Nat Commun. 2019 Jun 28;10(1):2837. doi: 10.1038/s41467-019-10649-4.
4
The Genetic Challenges and Opportunities in Advanced Heart Failure.晚期心力衰竭中的遗传挑战与机遇
Can J Cardiol. 2015 Nov;31(11):1338-50. doi: 10.1016/j.cjca.2015.07.735. Epub 2015 Aug 21.
5
Use of yeast as a model system to investigate protein conformational diseases.利用酵母作为模型系统来研究蛋白质构象疾病。
Mol Biotechnol. 2005 Jun;30(2):171-80. doi: 10.1385/MB:30:2:171.
6
Long term results of heart transplantation in patients with amyloid heart disease.淀粉样心脏病患者心脏移植的长期结果。
Heart. 2001 Feb;85(2):202-7. doi: 10.1136/heart.85.2.202.
7
Retrospective molecular detection of Transthyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues.
Hum Genet. 1993 Oct 1;92(3):265-8. doi: 10.1007/BF00244470.
8
Verification of the transthyretin Met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequencing.通过DNA测序验证丹麦裔家族性淀粉样心肌病中甲状腺素运载蛋白Met 111突变
Hum Genet. 1994 Apr;93(4):484-5. doi: 10.1007/BF00201686.
9
Hereditary renal amyloidosis with a novel variant fibrinogen.伴有新型纤维蛋白原变异体的遗传性肾淀粉样变性
J Clin Invest. 1994 Feb;93(2):731-6. doi: 10.1172/JCI117027.
10
Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).两个德裔美国家庭中的淀粉样多神经病：一种新的转甲状腺素蛋白变体（Val 107）
J Med Genet. 1994 May;31(5):416-7. doi: 10.1136/jmg.31.5.416.
本文引用的文献
1
Familial primary amyloidosis with severe amyloid heart disease.伴有严重淀粉样心脏病的家族性原发性淀粉样变性
Am J Med. 1962 Sep;33:328-48. doi: 10.1016/0002-9343(62)90230-9.
2
A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves.一种特殊形式的周围神经病变；家族性非典型全身性淀粉样变性，周围神经有特殊受累情况。
Brain. 1952 Sep;75(3):408-27. doi: 10.1093/brain/75.3.408.
3
4
Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer.遗传性全身性淀粉样变性易感性。一个伴有神经病变、肾病和消化性溃疡的家族的临床及病理研究。
Neurology. 1969 Jan;19(1):10-25. doi: 10.1212/wnl.19.1.10.
5
Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.变异载脂蛋白AI作为人类遗传性淀粉样蛋白的主要成分。
Biochem Biophys Res Commun. 1988 Oct 31;156(2):762-8. doi: 10.1016/s0006-291x(88)80909-4.
6
Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain.血浆和细胞质凝溶胶蛋白由单一基因编码，并含有一个重复的肌动蛋白结合结构域。
Nature. 1986;323(6087):455-8. doi: 10.1038/323455a0.
7
Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification.对II型马里兰/德国家族性淀粉样多神经病基因进行直接测序，并通过等位基因特异性酶促扩增进行基因分型。
Genomics. 1989 Oct;5(3):535-40. doi: 10.1016/0888-7543(89)90020-7.
8
A new mutation causing familial amyloidotic polyneuropathy.一种导致家族性淀粉样多神经病的新突变。
Biochem Biophys Res Commun. 1989 Nov 15;164(3):1240-6. doi: 10.1016/0006-291x(89)91802-0.
9
A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.
Biochem Biophys Res Commun. 1990 May 31;169(1):143-7. doi: 10.1016/0006-291x(90)91445-x.
10
Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences.遗传性淀粉样变性：通过扩增基因组DNA序列的限制性酶切分析检测变异型前白蛋白基因。
Clin Genet. 1990 Jan;37(1):44-53. doi: 10.1111/j.1399-0004.1990.tb03389.x.
Zotero 插件