HPS1

An Error has occured retrieving Wikidata item for infobox HPS1‏ (HPS1, biogenesis of lysosomal organelles complex 3 subunit 1) هوَ بروتين يُشَفر بواسطة جين HPS1 في الإنسان.^[1]^[2]^[3]

الوظيفة

الأهمية السريرية

المراجع

^ "Entrez Gene: HPS1 Hermansky-Pudlak syndrome 1". مؤرشف من الأصل في 2010-04-13.
^ Fukai K، Oh J، Frenk E، Almodovar C، Spritz RA (فبراير 1996). "Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3". Hum Mol Genet. ج. 4 ع. 9: 1665–9. DOI:10.1093/hmg/4.9.1665. PMID:8541858.
^ Wildenberg SC، Oetting WS، Almodovar C، Krumwiede M، White JG، King RA (نوفمبر 1995). "A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2". Am J Hum Genet. ج. 57 ع. 4: 755–65. PMC:1801499. PMID:7573033.

قراءة متعمقة

Huizing M، Gahl WA (2003). "Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes". Curr. Mol. Med. ج. 2 ع. 5: 451–67. DOI:10.2174/1566524023362357. PMID:12125811.
Oh J، Bailin T، Fukai K، وآخرون (1996). "Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles". Nat. Genet. ج. 14 ع. 3: 300–6. DOI:10.1038/ng1196-300. PMID:8896559.
Bailin T، Oh J، Feng GH، وآخرون (1997). "Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene". J. Invest. Dermatol. ج. 108 ع. 6: 923–7. DOI:10.1111/1523-1747.ep12294634. PMID:9182823.
Oh J، Ho L، Ala-Mello S، وآخرون (1998). "Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity". Am. J. Hum. Genet. ج. 62 ع. 3: 593–8. DOI:10.1086/301757. PMC:1376951. PMID:9497254.
Wildenberg SC، Fryer JP، Gardner JM، وآخرون (1998). "Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico". J. Invest. Dermatol. ج. 110 ع. 5: 777–81. DOI:10.1046/j.1523-1747.1998.00183.x. PMID:9579545.
Dell'Angelica EC، Aguilar RC، Wolins N، وآخرون (2000). "Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene". J. Biol. Chem. ج. 275 ع. 2: 1300–6. DOI:10.1074/jbc.275.2.1300. PMID:10625677.
Huizing M، Anikster Y، Gahl WA (2000). "Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection". Hum. Genet. ج. 106 ع. 3: 370–3. DOI:10.1007/s004390051053. PMID:10798370.
Horikawa T، Araki K، Fukai K، وآخرون (2000). "Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes". Br. J. Dermatol. ج. 143 ع. 3: 635–40. DOI:10.1111/j.1365-2133.2000.03725.x. PMID:10971344.
Suzuki T، Li W، Zhang Q، وآخرون (2002). "Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene". Nat. Genet. ج. 30 ع. 3: 321–4. DOI:10.1038/ng835. PMID:11836498.
Hermos CR، Huizing M، Kaiser-Kupfer MI، Gahl WA (2002). "Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases". Hum. Mutat. ج. 20 ع. 6: 482. DOI:10.1002/humu.9097. PMID:12442288.
Strausberg RL، Feingold EA، Grouse LH، وآخرون (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
Chiang PW، Oiso N، Gautam R، وآخرون (2003). "The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles". J. Biol. Chem. ج. 278 ع. 22: 20332–7. DOI:10.1074/jbc.M300090200. PMID:12663659.
Martina JA، Moriyama K، Bonifacino JS (2003). "BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4". J. Biol. Chem. ج. 278 ع. 31: 29376–84. DOI:10.1074/jbc.M301294200. PMID:12756248.
Nazarian R، Falcón-Pérez JM، Dell'Angelica EC (2003). "Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4". Proc. Natl. Acad. Sci. U.S.A. ج. 100 ع. 15: 8770–5. DOI:10.1073/pnas.1532040100. PMC:166388. PMID:12847290.
Kobashi Y، Yoshida K، Miyashita N، وآخرون (2005). "Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene". Intern. Med. ج. 44 ع. 6: 616–21. DOI:10.2169/internalmedicine.44.616. PMID:16020891.
Huizing M، Parkes JM، Helip-Wooley A، وآخرون (2007). "Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome". Platelets. ج. 18 ع. 2: 150–7. DOI:10.1080/13576500600936039. PMID:17365864.

هذه بذرة مقالة عن جين على كروموسوم 10 بحاجة للتوسيع. فضلًا شارك في تحريرها.

[entrez-1] "Entrez Gene: HPS1 Hermansky-Pudlak syndrome 1". مؤرشف من الأصل في 2010-04-13.

[pmid8541858-2] Fukai K، Oh J، Frenk E، Almodovar C، Spritz RA (فبراير 1996). "Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3". Hum Mol Genet. ج. 4 ع. 9: 1665–9. DOI:10.1093/hmg/4.9.1665. PMID:8541858.

[pmid7573033-3] Wildenberg SC، Oetting WS، Almodovar C، Krumwiede M، White JG، King RA (نوفمبر 1995). "A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2". Am J Hum Genet. ج. 57 ع. 4: 755–65. PMC:1801499. PMID:7573033.

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