Literature DB >> 1322360

Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.

C P Maury1, J Kere, R Tolvanen, A de la Chapelle.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1992        PMID： 1322360     DOI： 10.1016/0888-7543(92)90183-s

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


× No keyword cloud information.
  15 in total

Review 1.  Leukocyte Cell-Derived Chemotaxin 2-Associated Amyloidosis: A Recently Recognized Disease with Distinct Clinicopathologic Characteristics.

Authors:  Samih H Nasr; Ahmet Dogan; Christopher P Larsen
Journal:  Clin J Am Soc Nephrol       Date:  2015-04-14       Impact factor: 8.237

2.  Relation of gelsolin amyloidosis and periodontal health.

Authors:  Pirjo L Juusela; Rutger G Persson; Anja R Nieminen; Sari M Kiuru-Enari; Veli-Jukka Uitto
Journal:  Clin Oral Investig       Date:  2014-05-23       Impact factor: 3.573

3.  Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.

Authors:  Makiko Taira; Hiroyuki Ishiura; Jun Mitsui; Yuji Takahashi; Toshihiro Hayashi; Jun Shimizu; Takashi Matsukawa; Naoko Saito; Kazumasa Okada; Sadatoshi Tsuji; Hiromasa Sawamura; Shiro Amano; Jun Goto; Shoji Tsuji
Journal:  Neurogenetics       Date:  2012-05-24       Impact factor: 2.660

Review 4.  Fibrinogen alpha amyloidosis: insights from proteomics.

Authors:  Jessica Chapman; Ahmet Dogan
Journal:  Expert Rev Proteomics       Date:  2019-08-28       Impact factor: 3.940

5.  Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred.

Authors:  Yvonne A Efebera; Amy Sturm; Elizabeth C Baack; Craig C Hofmeister; Anjali Satoskar; Tibor Nadasdy; Gyongyi Nadasdy; Don M Benson; Julian D Gillmore; Philip N Hawkins; Dorota Rowczenio
Journal:  Amyloid       Date:  2014-03-06       Impact factor: 7.141

6.  Gelsolin is a dorsalizing factor in zebrafish.

Authors:  Jyotshnabala Kanungo; Zbynek Kozmik; Shivalingappa K Swamynathan; Joram Piatigorsky
Journal:  Proc Natl Acad Sci U S A       Date:  2003-03-10       Impact factor: 11.205

Review 7.  Pathology and diagnosis of renal non-AL amyloidosis.

Authors:  Sanjeev Sethi; Jason D Theis
Journal:  J Nephrol       Date:  2017-08-21       Impact factor: 3.902

8.  Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type).

Authors:  C P Maury; M Liljeström; G Boysen; T Törnroth; A de la Chapelle; E L Nurmiaho-Lassila
Journal:  J Clin Pathol       Date:  2000-02       Impact factor: 3.411

9.  Immunohistochemical analysis of lattice corneal dystrophies types I and II.

Authors:  T Kivelä; A Tarkkanen; I McLean; J Ghiso; B Frangione; M Haltia
Journal:  Br J Ophthalmol       Date:  1993-12       Impact factor: 4.638

Review 10.  Amyloid nephropathy.

Authors:  Mazdak A Khalighi; W Dean Wallace; Miguel F Palma-Diaz
Journal:  Clin Kidney J       Date:  2014-03-13
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.