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   NCF2base
   Variation registry for  Autosomal recessive p67phox deficiency


NCF2base mutation publications

[2010] [2009] [2008] [2006] [2001] [2000] [1999] [1997] [1996] [1995] [1994]

Search PubMed latest citations for NCF2 mutations

    2010

  • Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).
    Gentsch M, Kaczmarczyk A, van Leeuwen K, de Boer M, Kaus-Drobek M, Dagher MC, Kaiser P, Arkwright PD, Gahr M, Rösen-Wolff A, Bochtler M, Secord E, Britto-Williams P, Saifi GM, Maddalena A, Dbaibo G, Bustamante J, Casanova JL, Roos D, Roesler J
    Hum Mutat 2010(2): 151-8 [PubMed abstract].

  • Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
    Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ
    Blood Cells Mol Dis 2010(4): 291-9 [PubMed abstract].

    2009

  • Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.
    Köker MY, Sanal O, van Leeuwen K, de Boer M, Metin A, Patiroğlu T, Ozgür TT, Tezcan I, Roos D
    Eur J Clin Invest 2009(10): 942-51 [PubMed abstract].

  • First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.
    Bakri FG, Martel C, Khuri-Bulos N, Mahafzah A, El-Khateeb MS, Al-Wahadneh AM, Hayajneh WA, Hamamy HA, Maquet E, Molin M, Stasia MJ
    J Clin Immunol 2009(2): 215-30 [PubMed abstract].

  • Ocular manifestations in chronic granulomatous disease in Saudi Arabia.
    Al-Muhsen S, Al-Hemidan A, Al-Shehri A, Al-Harbi A, Al-Ghonaium A, Al-Saud B, Al-Mousa H, Al-Dhekri H, Arnaout R, Al-Mohsen I, Alsmadi O
    J AAPOS 2009(4): 396-9 [PubMed abstract].

    2008

  • Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients.
    Wolach B, Gavrieli R, de Boer M, Gottesman G, Ben-Ari J, Rottem M, Schlesinger Y, Grisaru-Soen G, Etzioni A, Roos D
    Clin Immunol 2008(1): 103-14 [PubMed abstract].

  • Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.
    Yu G, Hong DK, Dionis KY, Rae J, Heyworth PG, Curnutte JT, Lewis DB
    Clin Immunol 2008(2): 117-26 [PubMed abstract].

  • Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.
    Kannengiesser C, Gérard B, El Benna J, Henri D, Kroviarski Y, Chollet-Martin S, Gougerot-Pocidalo MA, Elbim C, Grandchamp B
    Hum Mutat 2008(9): E132-49 [PubMed abstract].

    2006

  • Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.
    El Kares R, Barbouche MR, Elloumi-Zghal H, Bejaoui M, Chemli J, Mellouli F, Tebib N, Abdelmoula MS, Boukthir S, Fitouri Z, M'Rad S, Bouslama K, Touiri H, Abdelhak S, Dellagi MK
    J Hum Genet 2006(10): 887-95 [PubMed abstract].

    2001

  • A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease.
    Borgato L, Bonizzato A, Lunardi C, Dusi S, Andrioli G, Scarperi A, Corrocher R
    Hum Genet 2001(6): 504-10 [PubMed abstract].

    2000

  • Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).
    Cross AR, Noack D, Rae J, Curnutte JT, Heyworth PG
    Blood Cells Mol Dis 2000(5): 561-5 [PubMed abstract].

    1999

  • Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.
    Noack D, Rae J, Cross AR, Muñoz J, Salmen S, Mendoza JA, Rossi N, Curnutte JT, Heyworth PG
    Hum Genet 1999(5): 460-7 [PubMed abstract].

  • Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.
    Patiño PJ, Rae J, Noack D, Erickson R, Ding J, de Olarte DG, Curnutte JT
    Blood 1999(7): 2505-14 [PubMed abstract].

    1997

  • Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient.
    Bonizzato A, Russo MP, Donini M, Dusi S
    Biochem Biophys Res Commun 1997(3): 861-3 [PubMed abstract].

    1996

  • Two-exon skipping due to a point mutation in p67-phox--deficient chronic granulomatous disease.
    Aoshima M, Nunoi H, Shimazu M, Shimizu S, Tatsuzawa O, Kenney RT, Kanegasaki S
    Blood 1996(5): 1841-5 [PubMed abstract].

  • Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.
    Leusen JH, de Klein A, Hilarius PM, Ahlin A, Palmblad J, Smith CI, Diekmann D, Hall A, Verhoeven AJ, Roos D
    J Exp Med 1996(4): 1243-9 [PubMed abstract].

    1995

  • A mutation located at the 5' splice junction sequence of intron 3 in the p67phox gene causes the lack of p67phox mRNA in a patient with chronic granulomatous disease.
    Tanugi-Cholley LC, Issartel JP, Lunardi J, Freycon F, Morel F, Vignais PV
    Blood 1995(1): 242-9 [PubMed abstract].

  • AG dinucleotide insertion in a patient with chronic granulomatous disease lacking cytosolic 67-kD protein.
    Nunoi H, Iwata M, Tatsuzawa S, Onoe Y, Shimizu S, Kanegasaki S, Matsuda I
    Blood 1995(1): 329-33 [PubMed abstract].

    1994

  • Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers.
    de Boer M, Hilarius-Stokman PM, Hossle JP, Verhoeven AJ, Graf N, Kenney RT, Seger R, Roos D
    Blood 1994(2): 531-6 [PubMed abstract].