Literature DB >> 26854491

Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa.

Yinghong He1, Meena Balasubramanian2, Nigel Humphreys3, Catherine Waruiru3, Martin Brauner4, Juergen Kohlhase4, Ruth O'Reilly3, Cristina Has5.   

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Year:  2016        PMID： 26854491     DOI： 10.1016/j.jid.2015.11.031

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  9 in total

1.  Opposing Roles of Epidermal Integrins α3β1 and α9β1 in Regulation of mTLD/BMP-1-Mediated Laminin-γ2 Processing during Wound Healing.

Authors:  Whitney M Longmate; Scott P Lyons; Lori DeFreest; Livingston Van De Water; C Michael DiPersio
Journal:  J Invest Dermatol       Date:  2017-09-18       Impact factor: 8.551

2.  A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome.

Authors:  Yulong Fu; Jun-Yi Zhu; Adam Richman; Zhanzheng Zhao; Fujian Zhang; Patricio E Ray; Zhe Han
Journal:  Hum Mol Genet       Date:  2017-02-15       Impact factor: 6.150

3.  Nephrotic syndrome, skin involvement, and chronic lung disease: Answers.

Authors:  Bahriye Atmis; Derya Cevizli; Cagla Cagli; Emel Saribas; Veysel Karakulak; Dilek Ozcan; Beyza Irem Gok; Kivilcim Eren Erdogan; Gulfiliz Gonlusen; Aysun K Bayazit
Journal:  Pediatr Nephrol       Date:  2022-08-12       Impact factor: 3.651

Review 4.  Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders.

Authors:  Amir Hossein Saeidian; Leila Youssefian; Hassan Vahidnezhad; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2020-06       Impact factor: 8.551

Review 5.  Advances in understanding the molecular basis of skin fragility.

Authors:  Cristina Has
Journal:  F1000Res       Date:  2018-03-06

6.  Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.

Authors:  C Has; L Liu; M C Bolling; A V Charlesworth; M El Hachem; M J Escámez; I Fuentes; S Büchel; R Hiremagalore; G Pohla-Gubo; P C van den Akker; K Wertheim-Tysarowska; G Zambruno
Journal:  Br J Dermatol       Date:  2019-08-09       Impact factor: 9.302

7.  Integrin α3 negative podocytes: A gene expression study.

Authors:  L H Frommherz; S B Sayar; Y Wang; L K Trefzer; Y He; J Leppert; P Eßer; C Has
Journal:  Matrix Biol Plus       Date:  2022-08-11

8.  Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.

Authors:  Elisa Adele Colombo; Luigina Spaccini; Ludovica Volpi; Gloria Negri; Davide Cittaro; Dejan Lazarevic; Salvatore Zirpoli; Andrea Farolfi; Cristina Gervasini; Maria Vittoria Cubellis; Lidia Larizza
Journal:  Orphanet J Rare Dis       Date:  2016-10-07       Impact factor: 4.123

Review 9.  Update on Genetic Conditions Affecting the Skin and the Kidneys.

Authors:  Antonia Reimer; Yinghong He; Cristina Has
Journal:  Front Pediatr       Date:  2018-03-02       Impact factor: 3.418
  9 in total

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