Literature DB >> 35960348

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

Bahriye Atmis1, Derya Cevizli2, Cagla Cagli2, Emel Saribas2, Veysel Karakulak3, Dilek Ozcan3, Beyza Irem Gok2, Kivilcim Eren Erdogan4, Gulfiliz Gonlusen4, Aysun K Bayazit2.   

Abstract

Entities:  

Keywords:  Child; ILNEB syndrome; ITGA3 mutation; Interstitial lung disease; Nephrotic syndrome; Skin involvement

Year:  2022        PMID： 35960348     DOI： 10.1007/s00467-022-05711-1

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.651


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  15 in total

Review 1.  Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa.

Authors:  Yinghong He; Meena Balasubramanian; Nigel Humphreys; Catherine Waruiru; Martin Brauner; Juergen Kohlhase; Ruth O'Reilly; Cristina Has
Journal:  J Invest Dermatol       Date:  2016-02-15       Impact factor: 8.551

2.  Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.

Authors:  Ebru G Yalcin; Yinghong He; Diclehan Orhan; Chiara Pazzagli; Nagehan Emiralioglu; Cristina Has
Journal:  Hum Mol Genet       Date:  2015-03-25       Impact factor: 6.150

3.  Integrin α3 mutations with kidney, lung, and skin disease.

Authors:  Cristina Has; Giuseppina Spartà; Dimitra Kiritsi; Lisa Weibel; Alexander Moeller; Virginia Vega-Warner; Aoife Waters; Yinghong He; Yair Anikster; Philipp Esser; Beate K Straub; Ingrid Hausser; Detlef Bockenhauer; Benjamin Dekel; Friedhelm Hildebrandt; Leena Bruckner-Tuderman; Guido F Laube
Journal:  N Engl J Med       Date:  2012-04-19       Impact factor: 91.245

4.  Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.

Authors:  Nayia Nicolaou; Coert Margadant; Sietske H Kevelam; Marc R Lilien; Michiel J S Oosterveld; Maaike Kreft; Albertien M van Eerde; Rolph Pfundt; Paulien A Terhal; Bert van der Zwaag; Peter G J Nikkels; Norman Sachs; Roel Goldschmeding; Nine V A M Knoers; Kirsten Y Renkema; Arnoud Sonnenberg
Journal:  J Clin Invest       Date:  2012-11-01       Impact factor: 14.808

5.  Alpha 3 beta 1 integrin has a crucial role in kidney and lung organogenesis.

Authors:  J A Kreidberg; M J Donovan; S L Goldstein; H Rennke; K Shepherd; R C Jones; R Jaenisch
Journal:  Development       Date:  1996-11       Impact factor: 6.868

Review 6.  IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome.

Authors:  Agnes Trautmann; Marina Vivarelli; Susan Samuel; Debbie Gipson; Aditi Sinha; Franz Schaefer; Ng Kar Hui; Olivia Boyer; Moin A Saleem; Luciana Feltran; Janina Müller-Deile; Jan Ulrich Becker; Francisco Cano; Hong Xu; Yam Ngo Lim; William Smoyer; Ifeoma Anochie; Koichi Nakanishi; Elisabeth Hodson; Dieter Haffner
Journal:  Pediatr Nephrol       Date:  2020-05-07       Impact factor: 3.714

Review 7.  Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?

Authors:  Rebecca Preston; Helen M Stuart; Rachel Lennon
Journal:  Pediatr Nephrol       Date:  2017-11-27       Impact factor: 3.714

8.  Successful kidney transplantation in a patient with neonatal-onset ILNEB.

Authors:  Takayuki Okamoto; Akie Nakamura; Asako Hayashi; Takeshi Yamaguchi; Yayoi Ogawa; Ken Natsuga; Kumiko Yanagi; Kiyohiko Hotta
Journal:  Pediatr Transplant       Date:  2021-01-20

9.  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 10.  Current understandings in treating children with steroid-resistant nephrotic syndrome.

Authors:  Jae Il Shin; Jun Oh; Jiwon M Lee; Andreas Kronbichler
Journal:  Pediatr Nephrol       Date:  2020-02-21       Impact factor: 3.714
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