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Severe congenital neutropenia: inheritance and pathophysiology.
Skokowa J, Germeshausen M, Zeidler C, Welte K. Skokowa J, et al. Among authors: germeshausen m. Curr Opin Hematol. 2007 Jan;14(1):22-8. doi: 10.1097/00062752-200701000-00006. Curr Opin Hematol. 2007. PMID: 17133096 Review.
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response.
Köllner I, Sodeik B, Schreek S, Heyn H, von Neuhoff N, Germeshausen M, Zeidler C, Krüger M, Schlegelberger B, Welte K, Beger C. Köllner I, et al. Among authors: germeshausen m. Blood. 2006 Jul 15;108(2):493-500. doi: 10.1182/blood-2005-11-4689. Epub 2006 Mar 21. Blood. 2006. PMID: 16551967 Free article.
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K. Klein C, et al. Among authors: germeshausen m. Nat Genet. 2007 Jan;39(1):86-92. doi: 10.1038/ng1940. Epub 2006 Dec 24. Nat Genet. 2007. PMID: 17187068
A syndrome with congenital neutropenia and mutations in G6PC3.
Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C. Boztug K, et al. Among authors: germeshausen m. N Engl J Med. 2009 Jan 1;360(1):32-43. doi: 10.1056/NEJMoa0805051. N Engl J Med. 2009. PMID: 19118303 Free PMC article.
56 results