Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

publications Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bönnemann CG; Hum Mol Genet. 2014 May 1;23(9):2339-52. doi: 10.1093/hmg/ddt627. Epub 2013 Dec 11

Abstract   Collagen VI-related myopathies are disorders of connective tissue presenting with an overlap phenotype combining clinical involvement from the muscle and from the...   Read More

Overexpression of epigen during embryonic development induces reversible, EGFR-dependent sebaceous gland hyperplasia

A3 NIEMANNDahlhoff M, Frances D, Kloepper JE, Paus R, Schäfer M, Niemann C, Schneider MR; Mol Cell Biol. 2014 Aug;34(16):3086-95. doi: 10.1128/MCB.00302-14. Epub 2014 Jun 2.

Abstract The epidermal growth factor receptor (EGFR) system is a key regulator of epithelial development and homeostasis. Its functions in the sebaceous gland (SG),...   Read More

Collagen XXII binds to collagen-binding integrins via the novel motifs GLQGER and GFKGER

publications Zwolanek D, Veit G, Eble JA, Gullberg D, Ruggiero F, Heino J, Meier M, Stetefeld J, Koch M; Biochem J. 2014 Apr 1;459(1):217-27. doi: 10.1042/BJ20130642.

Abstract   Collagen XXII, a FACIT (fibril-associated collagen with interrupted triple helices), is expressed at the myotendinous junction and the articular surface of joint...   Read More

Ultraviolet-radiation-induced inflammation promotes angiotropism and metastasis in melanoma

publications Bald T, Quast T, Landsberg J, Rogava M, Glodde N, Lopez-Ramos D, Kohlmeyer J, Riesenberg S, van den Boorn-Konijnenberg D, Hömig-Hölzel C, Reuten R, Schadow B, Weighardt H, Wenzel D, Helfrich I, Schadendorf D, Bloch W, Bianchi ME, Lugassy C, Barnhill RL, Koch M, Fleischmann BK, Förster I, Kastenmüller W, Kolanus W, Hölzel M, Gaffal E, Tüting T; Nature. 2014 Mar 6;507(7490):109-13. doi: 10.1038/nature13111. Epub 2014 Feb 26.

Abstract   Intermittent intense ultraviolet (UV) exposure represents an important aetiological factor in the development of malignant melanoma. The ability of UV radiation to...   Read More

Insights from the worm: the C. elegans model for innate immunity

A7 SCHUMACHERErmolaeva MA, Schumacher B; Semin Immunol. 2014 Aug;26(4):303-9. doi: 10.1016/j.smim.2014.04.005. Epub 2014 May 21.

Abstract The nematode worm Caenorhabditis elegans comprises an ancestral immune system. C. elegans recognizes and responds to viral, bacterial, and fungal infections. Components of...   Read More

Collagen receptors integrin alpha2beta1 and discoidin domain receptor 1 regulate maturation of the glomerular basement membrane and loss of integrin alpha2beta1 delays kidney fibrosis in COL4A3 knockout mice

Rubel D, Frese J, Martin M, Leibnitz A, Girgert R, Miosge N, Eckes B, Müller GA, Gross O Matrix Biol. 2014 Feb;34:13-21 PMID: 24480069...   Read More

AMACO is a component of the basement membrane-associated Fraser complex

B12 SENGLEB2 WAGENER/ PAULSSONRichardson RJ, Gebauer JM, Zhang JL, Kobbe B, Keene DR, Karlsen KR, Richetti S, Wohl AP, Sengle G, Neiss WF, Paulsson M, Hammerschmidt M, Wagener R; J Invest Dermatol. 2014 May;134(5):1313-22. doi: 10.1038/jid.2013.492. Epub 2013 Nov 14.

Abstract Fraser syndrome (FS) is a phenotypically variable, autosomal recessive disorder characterized by cryptophthalmus, cutaneous syndactyly, and other malformations resulting from mutations in FRAS1,...   Read More

Embelin inhibits endothelial mitochondrial respiration and impairs neoangiogenesis during tumor growth and wound healing

Coutelle O, Hornig-Do HT, Witt A, Andree M, Schiffmann LM, Piekarek M, Brinkmann K, Seeger JM, Liwschitz M, Miwa S, Hallek M, Krönke M,...   Read More

Mechanisms regulating skin immunity and inflammation

Pasparakis M, Haase I, Nestle FO Nat. Rev. Immunol. 2014 May;14(5):289-301 PMID: 24722477 Abstract Immune responses in the skin are important for host defence...   Read More

Acentriolar mitosis activates a p53-dependent apoptosis pathway in the mouse embryo

Bazzi H, Anderson KV Proc. Natl. Acad. Sci. U.S.A. 2014 Apr;111(15):E1491-500 PMID: 24706806 Abstract Centrosomes are the microtubule-organizing centers of animal cells that organize...   Read More

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