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Items: 1 to 20 of 97

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 19;366(16):1508-14. doi: 10.1056/NEJMoa1110813.

2.

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 Mar 12;9(3):e90879. doi: 10.1371/journal.pone.0090879. eCollection 2014.

3.

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 1;24(13):3679-88. doi: 10.1093/hmg/ddv111. Epub 2015 Mar 25.

PMID:
25810266
4.

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. doi: 10.1172/JCI64100. Epub 2012 Nov 1.

5.

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. doi: 10.1111/bjd.12317.

PMID:
23496044
6.

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.

7.

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 29;441(4):988-93. doi: 10.1016/j.bbrc.2013.11.003. Epub 2013 Nov 9.

PMID:
24220332
8.

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 1;20(9):1811-9. doi: 10.1093/hmg/ddr064. Epub 2011 Feb 14.

PMID:
21320868
9.

Lethal acantholytic epidermolysis bullosa.

McGrath JA, Bolling MC, Jonkman MF.

Dermatol Clin. 2010 Jan;28(1):131-5. doi: 10.1016/j.det.2009.10.015. Review.

PMID:
19945626
10.
11.

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.

Nakano A, Pulkkinen L, Murrell D, Rico J, Lucky AW, Garzon M, Stevens CA, Robertson S, Pfendner E, Uitto J.

Pediatr Res. 2001 May;49(5):618-26.

PMID:
11328943
12.

Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa.

Phillips RJ, Aplin JD, Lake BD.

Histopathology. 1994 Jun;24(6):571-6.

PMID:
8063286
13.

Congenital localized skin defect and epidermolysis bullosa hereditaria letalis.

Skoven I, Drzewiecki KT.

Acta Derm Venereol. 1979;59(6):533-7.

PMID:
94215
14.

Epidermolysis bullosa hereditaria letalis: pathology, natural history and therapy.

Schachner L, Lazarus GS, Dembitzer H.

Br J Dermatol. 1977 Jan;96(1):51-8.

PMID:
843437
15.

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 7;11(1):136.

16.

Mutation analysis and molecular genetics of epidermolysis bullosa.

Pulkkinen L, Uitto J.

Matrix Biol. 1999 Feb;18(1):29-42. Review.

PMID:
10367729
17.

Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.

Hobbs RP, Han SY, van der Zwaag PA, Bolling MC, Jongbloed JD, Jonkman MF, Getsios S, Paller AS, Green KJ.

J Invest Dermatol. 2010 Nov;130(11):2680-3. doi: 10.1038/jid.2010.189. Epub 2010 Jul 8. No abstract available.

19.

Epidermolysis bullosa hereditaria letalis. Clinical and histological manifestations and course of the disease.

Pearson RW, Potter B, Strauss F.

Arch Dermatol. 1974 Mar;109(3):349-55. No abstract available.

PMID:
4814936
20.

Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.

Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, Marr P, Tran K, Turner A, Smith N, Murrell DF.

Acta Derm Venereol. 2008;88(5):438-48. doi: 10.2340/00015555-0484. Review.

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