Literature DB >> 31079484

Whole-exome sequencing indicates FLG2 variant associated with leg ulcers in Brazilian sickle cell anemia patients.

Gabriela Queila de Carvalho-Siqueira1, Galina Ananina1, Bruno Batista de Souza1, Murilo Guimarães Borges2, Mirta Tomie Ito1, Sueli Matilde da Silva-Costa1, Igor de Farias Domingos3, Diego Arruda Falcão3, Iscia Lopes-Cendes2, Marcos André Cavalcanti Bezerra3, Aderson da Silva Araújo4, Antônio Roberto Lucena-Araújo3, Marilda de Souza Gonçalves5, Sara Teresinha Olalla Saad6, Fernando Ferreira Costa6, Mônica Barbosa de Melo1.   

Abstract

Entities:  

Keywords:  Sickle cell anemia; association study; complex disease; leg ulcer; variants; whole-exome sequencing

Mesh：

Substances：

Year:  2019        PMID： 31079484      PMCID： PMC6690137          DOI： 10.1177/1535370219849592

Source DB:  PubMed          Journal:  Exp Biol Med (Maywood)        ISSN： 1535-3699


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  64 in total

Review 1.  Pathophysiological-based approaches to treatment of sickle cell disease.

Authors:  Martin H Steinberg; Carlo Brugnara
Journal:  Annu Rev Med       Date:  2001-12-03       Impact factor: 13.739

2.  A novel human zinc finger protein ZNF540 interacts with MVP and inhibits transcriptional activities of the ERK signal pathway.

Authors:  Zhiming Xiang; Wuzhou Yuan; Na Luo; Yuequn Wang; Kunrong Tan; Yun Deng; Xijin Zhou; Chuangbing Zhu; Yanmei Li; Mingyao Liu; Xiushan Wu; Yongqing Li
Journal:  Biochem Biophys Res Commun       Date:  2006-06-21       Impact factor: 3.575

Review 3.  Sickle cell disease: old discoveries, new concepts, and future promise.

Authors:  Paul S Frenette; George F Atweh
Journal:  J Clin Invest       Date:  2007-04       Impact factor: 14.808

4.  Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway.

Authors:  Vikki G Nolan; Adeboye Adewoye; Clinton Baldwin; Ling Wang; Qianli Ma; Diego F Wyszynski; John J Farrell; Paola Sebastiani; Lindsay A Farrer; Martin H Steinberg
Journal:  Br J Haematol       Date:  2006-06       Impact factor: 6.998

5.  Pyruvate kinase deficiency and leg ulcers.

Authors:  A Müller-Soyano; E Tovar de Roura; P R Duke; G C De Acquatella; T Arends; E Guinto
Journal:  Blood       Date:  1976-05       Impact factor: 22.113

6.  A case of congenital dyserythropoietic anemia type II, Gilbert's syndrome and malleolar trophic ulcers.

Authors:  Bruno Bordi; Maria Rosaria D'Amico; Roberto Guariglia; Gaetana Capobianco; Emilio Bordi; Angelo Tirelli
Journal:  Hematology       Date:  2002-06       Impact factor: 2.269

7.  Heritability of venous function in humans.

Authors:  Marina Brinsuk; Jens Tank; Friedrich C Luft; Andreas Busjahn; Jens Jordan
Journal:  Arterioscler Thromb Vasc Biol       Date:  2003-11-13       Impact factor: 8.311

8.  Leg ulcer in hereditary spherocytosis.

Authors:  Susana Giraldi; Kerstin T Abbage; Leide P Marinoni; Vania Oliveira; Mara A Pianowski; Adelina E Lehmkuhl; José Fillus Neto
Journal:  Pediatr Dermatol       Date:  2003 Sep-Oct       Impact factor: 1.588

9.  Transcriptional profiling of developing mouse epidermis reveals novel patterns of coordinated gene expression.

Authors:  Hisham Bazzi; Katherine A Fantauzzo; Gavin D Richardson; Colin A B Jahoda; Angela M Christiano
Journal:  Dev Dyn       Date:  2007-04       Impact factor: 3.780

10.  Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.

Authors:  Aileen Sandilands; Ana Terron-Kwiatkowski; Peter R Hull; Gráinne M O'Regan; Timothy H Clayton; Rosemarie M Watson; Thomas Carrick; Alan T Evans; Haihui Liao; Yiwei Zhao; Linda E Campbell; Matthias Schmuth; Robert Gruber; Andreas R Janecke; Peter M Elias; Maurice A M van Steensel; Ivo Nagtzaam; Michel van Geel; Peter M Steijlen; Colin S Munro; Daniel G Bradley; Colin N A Palmer; Frances J D Smith; W H Irwin McLean; Alan D Irvine
Journal:  Nat Genet       Date:  2007-04-08       Impact factor: 38.330
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  2 in total

Review 1.  Interventions for treating leg ulcers in people with sickle cell disease.

Authors:  Arturo J Martí-Carvajal; Jennifer M Knight-Madden; Maria José Martinez-Zapata
Journal:  Cochrane Database Syst Rev       Date:  2021-01-09

2.  Association between inflammatory molecules, nitric oxide metabolites and leg ulcers in individuals with sickle cell anemia.

Authors:  André Rolim Belisário; Franciane Mendes-Oliveira; Valquíria Reis de Souza; Eduarda Bolina-Santos; Fabíola Gomes Mendes; Elizabeth Castro Moreno; Alice Timponi Franca; Ester Cerdeira Sabino; Dayane Andriotti Otta; Elaine Speziali de Faria; Jordana Grazziela Alves Coelho-Dos-Reis; Olindo Assis Martins-Filho; Anna Bárbara Carneiro-Proietti
Journal:  Hematol Transfus Cell Ther       Date:  2020-12-05
  2 in total

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