UNC13D
قراءة متعمقة

Marcenaro S، Gallo F، Martini S، وآخرون (2006). "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. ج. 108 ع. 7: 2316–23. DOI:10.1182/blood-2006-04-015693. PMID:16778144.
Gurgey A، Unal S، Okur H، وآخرون (2008). "Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children". J. Pediatr. Hematol. Oncol. ج. 30 ع. 12: 871–6. DOI:10.1097/MPH.0b013e31818a9577. PMID:19131769.
Saxena SK، Horiuchi H، Fukuda M (2006). "Rab27a regulates epithelial sodium channel (ENaC) activity through synaptotagmin-like protein (SLP-5) and Munc13-4 effector mechanism". Biochem. Biophys. Res. Commun. ج. 344 ع. 2: 651–7. DOI:10.1016/j.bbrc.2006.03.160. PMID:16630545.
Neeft M، Wieffer M، de Jong AS، وآخرون (2005). "Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells". Mol. Biol. Cell. ج. 16 ع. 2: 731–41. DOI:10.1091/mbc.E04-10-0923. PMC:545907. PMID:15548590.
Ménager MM، Ménasché G، Romao M، وآخرون (2007). "Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4". Nat. Immunol. ج. 8 ع. 3: 257–67. DOI:10.1038/ni1431. PMID:17237785.
Santoro A، Cannella S، Trizzino A، وآخرون (2008). "Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3". Haematologica. ج. 93 ع. 7: 1086–90. DOI:10.3324/haematol.12622. PMID:18492689.
Zhang K، Biroschak J، Glass DN، وآخرون (2008). "Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms". Arthritis Rheum. ج. 58 ع. 9: 2892–6. DOI:10.1002/art.23734. PMC:2779064. PMID:18759271.
Yoon HS، Kim HJ، Yoo KH، وآخرون (2010). "UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis". Haematologica. ج. 95 ع. 4: 622–6. DOI:10.3324/haematol.2009.016949. PMC:2857192. PMID:20015888.
Horne A، Ramme KG، Rudd E، وآخرون (2008). "Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis". Br. J. Haematol. ج. 143 ع. 1: 75–83. DOI:10.1111/j.1365-2141.2008.07315.x. PMID:18710388.
Zur Stadt U، Beutel K، Kolberg S، وآخرون (2006). "Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A". Hum. Mutat. ج. 27 ع. 1: 62–8. DOI:10.1002/humu.20274. PMID:16278825.
Rudd E، Bryceson YT، Zheng C، وآخرون (2008). "Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis". J. Med. Genet. ج. 45 ع. 3: 134–41. DOI:10.1136/jmg.2007.054288. PMID:17993578.
Beutler B (2009). "Microbe sensing, positive feedback loops, and the pathogenesis of inflammatory diseases". Immunol. Rev. ج. 227 ع. 1: 248–63. DOI:10.1111/j.1600-065X.2008.00733.x. PMC:2713013. PMID:19120489.
Nakao T، Shimizu T، Fukushima T، وآخرون (2008). "Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reports". Pediatr Hematol Oncol. ج. 25 ع. 3: 171–80. DOI:10.1080/08880010801938082. PMID:18432499.
Donn R، Ellison S، Lamb R، وآخرون (2008). "Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis". Arthritis Rheum. ج. 58 ع. 3: 869–74. DOI:10.1002/art.23270. PMC:2675009. PMID:18311812.
Hazen MM، Woodward AL، Hofmann I، وآخرون (2008). "Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis". Arthritis Rheum. ج. 58 ع. 2: 567–70. DOI:10.1002/art.23199. PMID:18240215.
Santoro A، Cannella S، Bossi G، وآخرون (2006). "Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis". J. Med. Genet. ج. 43 ع. 12: 953–60. DOI:10.1136/jmg.2006.041863. PMC:2563207. PMID:16825436.
Pivot-Pajot C، Varoqueaux F، de Saint Basile G، Bourgoin SG (2008). "Munc13-4 regulates granule secretion in human neutrophils". J. Immunol. ج. 180 ع. 10: 6786–97. DOI:10.4049/jimmunol.180.10.6786. PMID:18453599.
Wood SM، Meeths M، Chiang SC، وآخرون (2009). "Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity". Blood. ج. 114 ع. 19: 4117–27. DOI:10.1182/blood-2009-06-225359. PMID:19704116.
Zhong N، Radu G، Ju W، Brown WT (2005). "Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C". Biochem. Biophys. Res. Commun. ج. 338 ع. 2: 855–61. DOI:10.1016/j.bbrc.2005.10.020. PMID:16248985.
Chang TY، Jaffray J، Woda B، وآخرون (2011). "Hemophagocytic lymphohistiocytosis with MUNC13-4 gene mutation or reduced natural killer cell function prior to onset of childhood leukemia". Pediatr Blood Cancer. ج. 56 ع. 5: 856–8. DOI:10.1002/pbc.22846. PMC:3059114. PMID:21370424.
| 0 | 1 |
| --- | --- |
معرفات كيميائية:  قاعدة بيانات التتابع المرجعي (RefSeq RNA): NM_199242  
| ع ن جينات الكروموسوم 17 | ع ن جينات الكروموسوم 17 |
| --- | --- |