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Items: 1 to 20 of 46

1.

Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.

Chen WM, Erdos MR, Jackson AU, Saxena R, Sanna S, Silver KD, Timpson NJ, Hansen T, Orrù M, Grazia Piras M, Bonnycastle LL, Willer CJ, Lyssenko V, Shen H, Kuusisto J, Ebrahim S, Sestu N, Duren WL, Spada MC, Stringham HM, Scott LJ, Olla N, Swift AJ, Najjar S, Mitchell BD, Lawlor DA, Smith GD, Ben-Shlomo Y, Andersen G, Borch-Johnsen K, Jørgensen T, Saramies J, Valle TT, Buchanan TA, Shuldiner AR, Lakatta E, Bergman RN, Uda M, Tuomilehto J, Pedersen O, Cao A, Groop L, Mohlke KL, Laakso M, Schlessinger D, Collins FS, Altshuler D, Abecasis GR, Boehnke M, Scuteri A, Watanabe RM.

J Clin Invest. 2008 Jul;118(7):2620-8. doi: 10.1172/JCI34566.

2.

A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels.

Bouatia-Naji N, Rocheleau G, Van Lommel L, Lemaire K, Schuit F, Cavalcanti-Proença C, Marchand M, Hartikainen AL, Sovio U, De Graeve F, Rung J, Vaxillaire M, Tichet J, Marre M, Balkau B, Weill J, Elliott P, Jarvelin MR, Meyre D, Polychronakos C, Dina C, Sladek R, Froguel P.

Science. 2008 May 23;320(5879):1085-8. doi: 10.1126/science.1156849.

3.

Congenital neutropenia syndromes.

Boztug K, Welte K, Zeidler C, Klein C.

Immunol Allergy Clin North Am. 2008 May;28(2):259-75, vii-viii. doi: 10.1016/j.iac.2008.01.007. Review.

PMID:
18424332
4.

The role of the unfolded protein response in the heart.

Glembotski CC.

J Mol Cell Cardiol. 2008 Mar;44(3):453-9. Review.

5.

Endoplasmic reticulum stress in disease pathogenesis.

Lin JH, Walter P, Yen TS.

Annu Rev Pathol. 2008;3:399-425. Review.

6.

Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?

Schäffer AA, Klein C.

Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):481-94. Review.

7.

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.

Grenda DS, Murakami M, Ghatak J, Xia J, Boxer LA, Dale D, Dinauer MC, Link DC.

Blood. 2007 Dec 15;110(13):4179-87.

8.

A molecular classification of congenital neutropenia syndromes.

Boxer LA, Newburger PE.

Pediatr Blood Cancer. 2007 Oct 15;49(5):609-14. Review.

9.

Signal integration in the endoplasmic reticulum unfolded protein response.

Ron D, Walter P.

Nat Rev Mol Cell Biol. 2007 Jul;8(7):519-29. Review.

PMID:
17565364
10.

Glycogen synthase kinase 3alpha and 3beta mediate a glucose-sensitive antiapoptotic signaling pathway to stabilize Mcl-1.

Zhao Y, Altman BJ, Coloff JL, Herman CE, Jacobs SR, Wieman HL, Wofford JA, Dimascio LN, Ilkayeva O, Kelekar A, Reya T, Rathmell JC.

Mol Cell Biol. 2007 Jun;27(12):4328-39.

11.

Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta.

Cheung YY, Kim SY, Yiu WH, Pan CJ, Jun HS, Ruef RA, Lee EJ, Westphal H, Mansfield BC, Chou JY.

J Clin Invest. 2007 Mar;117(3):784-93.

12.

A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schäffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C.

Nat Med. 2007 Jan;13(1):38-45.

PMID:
17195838
13.

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.

Nat Genet. 2007 Jan;39(1):86-92.

PMID:
17187068
14.
15.

Neutrophil elastase in cyclic and severe congenital neutropenia.

Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ.

Blood. 2007 Mar 1;109(5):1817-24. Review.

16.

Deletion of the gene encoding the ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein (UGRP)/glucose-6-phosphatase catalytic subunit-beta results in lowered plasma cholesterol and elevated glucagon.

Wang Y, Oeser JK, Yang C, Sarkar S, Hackl SI, Hasty AH, McGuinness OP, Paradee W, Hutton JC, Powell DR, O'Brien RM.

J Biol Chem. 2006 Dec 29;281(52):39982-9.

17.

Severe congenital neutropenia.

Welte K, Zeidler C, Dale DC.

Semin Hematol. 2006 Jul;43(3):189-95. Review.

PMID:
16822461
18.

Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.

Ancliff PJ, Blundell MP, Cory GO, Calle Y, Worth A, Kempski H, Burns S, Jones GE, Sinclair J, Kinnon C, Hann IM, Gale RE, Linch DC, Thrasher AJ.

Blood. 2006 Oct 1;108(7):2182-9.

19.

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.

Blood. 2006 Jul 15;108(2):493-500.

20.

Glycogen synthase kinase-3 regulates mitochondrial outer membrane permeabilization and apoptosis by destabilization of MCL-1.

Maurer U, Charvet C, Wagman AS, Dejardin E, Green DR.

Mol Cell. 2006 Mar 17;21(6):749-60.

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