These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 22512483)

  • 1. Integrin α3 mutations with kidney, lung, and skin disease.
    Has C; Spartà G; Kiritsi D; Weibel L; Moeller A; Vega-Warner V; Waters A; He Y; Anikster Y; Esser P; Straub BK; Hausser I; Bockenhauer D; Dekel B; Hildebrandt F; Bruckner-Tuderman L; Laube GF
    N Engl J Med; 2012 Apr; 366(16):1508-14. PubMed ID: 22512483
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.
    Colombo EA; Spaccini L; Volpi L; Negri G; Cittaro D; Lazarevic D; Zirpoli S; Farolfi A; Gervasini C; Cubellis MV; Larizza L
    Orphanet J Rare Dis; 2016 Oct; 11(1):136. PubMed ID: 27717396
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Constitutional absence of epithelial integrin α3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes.
    He Y; Thriene K; Boerries M; Hausser I; Franzke CW; Busch H; Dengjel J; Has C
    Matrix Biol; 2018 Dec; 74():62-76. PubMed ID: 30466509
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa.
    He Y; Balasubramanian M; Humphreys N; Waruiru C; Brauner M; Kohlhase J; O'Reilly R; Has C
    J Invest Dermatol; 2016 May; 136(5):1056-1059. PubMed ID: 26854491
    [No Abstract]   [Full Text] [Related]  

  • 5. First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood.
    Alstrup M; Marks SD; Ek J; Buchvald F; Lund TK; Perch M; Waters AM; Mogensen M; Jelsig AM
    Eur J Med Genet; 2021 Nov; 64(11):104335. PubMed ID: 34492382
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A human integrin-α3 mutation confers major renal developmental defects.
    Shukrun R; Vivante A; Pleniceanu O; Vax E; Anikster Y; Dekel B; Lotan D
    PLoS One; 2014; 9(3):e90879. PubMed ID: 24621570
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous a3 Integrin Deficiency.
    Tarur SU; Srinivasan S; Seeralar A
    Indian Pediatr; 2020 Mar; 57(3):268-269. PubMed ID: 32198874
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.
    Yalcin EG; He Y; Orhan D; Pazzagli C; Emiralioglu N; Has C
    Hum Mol Genet; 2015 Jul; 24(13):3679-88. PubMed ID: 25810266
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.
    Nicolaou N; Margadant C; Kevelam SH; Lilien MR; Oosterveld MJ; Kreft M; van Eerde AM; Pfundt R; Terhal PA; van der Zwaag B; Nikkels PG; Sachs N; Goldschmeding R; Knoers NV; Renkema KY; Sonnenberg A
    J Clin Invest; 2012 Dec; 122(12):4375-87. PubMed ID: 23114595
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression.
    Liu Y; Yue Z; Wang H; Li M; Wu X; Lin H; Han W; Lan S; Sun L
    Clin Chim Acta; 2021 Dec; 523():430-436. PubMed ID: 34751145
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement.
    Kinyó Á; Kovács AL; Degrell P; Kálmán E; Nagy N; Kárpáti S; Gyulai R; Saeidian AH; Youssefian L; Vahidnezhad H; Uitto J
    J Invest Dermatol; 2021 Nov; 141(11):2752-2756. PubMed ID: 34023363
    [No Abstract]   [Full Text] [Related]  

  • 12. Successful kidney transplantation in a patient with neonatal-onset ILNEB.
    Okamoto T; Nakamura A; Hayashi A; Yamaguchi T; Ogawa Y; Natsuga K; Yanagi K; Hotta K
    Pediatr Transplant; 2021 Aug; 25(5):e13971. PubMed ID: 33470490
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.
    Schumann H; Kiritsi D; Pigors M; Hausser I; Kohlhase J; Peters J; Ott H; Hyla-Klekot L; Gacka E; Sieron AL; Valari M; Bruckner-Tuderman L; Has C
    Br J Dermatol; 2013 Jul; 169(1):115-24. PubMed ID: 23496044
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes.
    Has C; Fischer J
    Exp Dermatol; 2019 Oct; 28(10):1146-1152. PubMed ID: 29679399
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.
    Allegra M; Gagnoux-Palacios L; Gache Y; Roques S; Lestringant G; Ortonne JP; Meneguzzi G
    J Invest Dermatol; 2003 Dec; 121(6):1336-43. PubMed ID: 14675179
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Focal adhesions in the skin: lessons learned from skin fragility disorders.
    Has C; He Y
    Eur J Dermatol; 2017 Jun; 27(S1):8-11. PubMed ID: 28690212
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Disease-associated single amino acid mutation in the calf-1 domain of integrin α3 leads to defects in its processing and cell surface expression.
    Yamada M; Sekiguchi K
    Biochem Biophys Res Commun; 2013 Nov; 441(4):988-93. PubMed ID: 24220332
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.
    Pigors M; Kiritsi D; Krümpelmann S; Wagner N; He Y; Podda M; Kohlhase J; Hausser I; Bruckner-Tuderman L; Has C
    Hum Mol Genet; 2011 May; 20(9):1811-9. PubMed ID: 21320868
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Lethal acantholytic epidermolysis bullosa.
    McGrath JA; Bolling MC; Jonkman MF
    Dermatol Clin; 2010 Jan; 28(1):131-5. PubMed ID: 19945626
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).
    Pulkkinen L; Kim DU; Uitto J
    Am J Pathol; 1998 Jan; 152(1):157-66. PubMed ID: 9422533
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.