UNC13D
UNC13D (Unc-13 homolog D) هوَ بروتين يُشَفر بواسطة جين UNC13D في الإنسان.[1]
المراجع
- "Entrez Gene: unc-13 homolog D (C. elegans)"، مؤرشف من الأصل في 05 ديسمبر 2010.
قراءة متعمقة
- "Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease."، Blood، 108 (7): 2316–23، 2006، doi:10.1182/blood-2006-04-015693، PMID 16778144.
- "Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children."، J. Pediatr. Hematol. Oncol.، 30 (12): 871–6، 2008، doi:10.1097/MPH.0b013e31818a9577، PMID 19131769.
- "Rab27a regulates epithelial sodium channel (ENaC) activity through synaptotagmin-like protein (SLP-5) and Munc13-4 effector mechanism."، Biochem. Biophys. Res. Commun.، 344 (2): 651–7، 2006، doi:10.1016/j.bbrc.2006.03.160، PMID 16630545.
- "Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells."، Mol. Biol. Cell، 16 (2): 731–41، 2005، doi:10.1091/mbc.E04-10-0923، PMC 545907، PMID 15548590.
- "Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4."، Nat. Immunol.، 8 (3): 257–67، 2007، doi:10.1038/ni1431، PMID 17237785.
- "Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3."، Haematologica، 93 (7): 1086–90، 2008، doi:10.3324/haematol.12622، PMID 18492689.
- "Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms."، Arthritis Rheum.، 58 (9): 2892–6، 2008، doi:10.1002/art.23734، PMC 2779064، PMID 18759271.
- "UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis."، Haematologica، 95 (4): 622–6، 2010، doi:10.3324/haematol.2009.016949، PMC 2857192، PMID 20015888.
- "Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis."، Br. J. Haematol.، 143 (1): 75–83، 2008، doi:10.1111/j.1365-2141.2008.07315.x، PMID 18710388.
- "Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A."، Hum. Mutat.، 27 (1): 62–8، 2006، doi:10.1002/humu.20274، PMID 16278825.
- "Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis."، J. Med. Genet.، 45 (3): 134–41، 2008، doi:10.1136/jmg.2007.054288، PMID 17993578.
- Beutler B (2009)، "Microbe sensing, positive feedback loops, and the pathogenesis of inflammatory diseases."، Immunol. Rev.، 227 (1): 248–63، doi:10.1111/j.1600-065X.2008.00733.x، PMC 2713013، PMID 19120489.
- "Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reports."، Pediatr Hematol Oncol، 25 (3): 171–80، 2008، doi:10.1080/08880010801938082، PMID 18432499.
- "Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis."، Arthritis Rheum.، 58 (3): 869–74، 2008، doi:10.1002/art.23270، PMC 2675009، PMID 18311812.
- "Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis."، Arthritis Rheum.، 58 (2): 567–70، 2008، doi:10.1002/art.23199، PMID 18240215.
- "Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis."، J. Med. Genet.، 43 (12): 953–60، 2006، doi:10.1136/jmg.2006.041863، PMC 2563207، PMID 16825436.
- "Munc13-4 regulates granule secretion in human neutrophils."، J. Immunol.، 180 (10): 6786–97، 2008، doi:10.4049/jimmunol.180.10.6786، PMID 18453599.
- "Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity."، Blood، 114 (19): 4117–27، 2009، doi:10.1182/blood-2009-06-225359، PMID 19704116.
- "Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C."، Biochem. Biophys. Res. Commun.، 338 (2): 855–61، 2005، doi:10.1016/j.bbrc.2005.10.020، PMID 16248985.
- "Hemophagocytic lymphohistiocytosis with MUNC13-4 gene mutation or reduced natural killer cell function prior to onset of childhood leukemia."، Pediatr Blood Cancer، 56 (5): 856–8، 2011، doi:10.1002/pbc.22846، PMC 3059114، PMID 21370424.
بوابة الكيمياء الحيوية
بوابة علم الأحياء الخلوي والجزيئي
بوابة طب
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.