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Title:	HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Source:	Nature Genetics [1061-4036] Klein, Christoph yr:2006

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description	1.	Tartaglia, M. "Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome." Nature genetics 39.1 (2006): 75-9.
description	2.	Duncan, Andrew W W. "Integration of Notch and Wnt signaling in hematopoietic stem cell maintenance." Nature immunology 6.3 (2005): 314-22.
description	3.	Skokowa, J. "LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia." Nature medicine 12.10 (2006): 1191-7.
description	4.	Enerbäck, S. "Mice lacking mitochondrial uncoupling protein are cold-sensitive but not obese." Nature 387.6628 (1997): 90-4.
description	5.	Carlsson, G. "Kostmann syndrome or infantile genetic agranulocytosis, part one: Celebrating 50 years of clinical and basic research on severe congenital neutropenia." Acta pædiatrica 95.12: 1526-1532.
description	6.	Palou, A. "The uncoupling protein, thermogenin." The international journal of biochemistry & cell biology 30.1 (1998): 7-11.
description	7.	Jacobsen, Sten Eirik W E. "Defining 'stemness': Notch and Wnt join forces?" Nature immunology 6.3 (2005): 234-6.
description	8.	Montgomery, K. "Germline gain-of-function mutations in SOS1 cause Noonan syndrome." Nature genetics 39.1 (2007): 70-4.
description	9.	Wyss-Coray, T. "Inflammation in Alzheimer disease: driving force, bystander or beneficial response?" Nature medicine 12.9 (2006): 1005-15.
description	10.	Mizutani, Nicholas I. "Differential Notch signalling distinguishes neural stem cells from intermediate progenitors." Nature 449.7160 (2007): 351-5.
description	11.	Schubbert, S. "Germline KRAS mutations cause Noonan syndrome." Nature genetics 38.3 (2006): 331-336.
description	12.	Nedergaard, J. "UCP1 ablation induces obesity and abolishes diet-induced thermogenesis in mice exempt from thermal stress by living at thermoneutrality." Cell metabolism 9.2 (2009): 203-9.
description	13.	Reya, T. "Wnt signaling in the stem cell niche." Current opinion in hematology 11.2 (2004): 88-94.
description	14.	Zhang, C Y Y. "Uncoupling protein-2 negatively regulates insulin secretion and is a major link between obesity, beta cell dysfunction, and type 2 diabetes." Cell 105.6 (2001): 745-55.
description	15.	Reya, T. "A role for Wnt signalling in self-renewal of haematopoietic stem cells." Nature 423.6938 (2003): 409-14.
description	16.	van der Burgt, I. "Noonan syndrome." Orphanet journal of rare diseases 2.2007 (2007): 4-4.
description	17.	Reya, Tannishtha, T. "Wnt signalling in stem cells and cancer." Nature 434.7035 (2005): 843-50.
description	18.	Kucherlapati, M. "PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity." American journal of human genetics 70.6 (2002): 1555-63.
description	19.	Klapecki, J. "[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts]." Medycyna wieku rozwojowego 10.1 Pt 2 (2006): 289-308.
description	20.	Walder, K. "Association between uncoupling protein polymorphisms (UCP2-UCP3) and energy metabolism/obesity in Pima indians." Human Molecular Genetics 7.9: 1431-1435.