| Lessons of leprosy: the emergence of TH17 cytokines during type II reactions (ENL) is teaching us about T-cell plasticity. Martiniuk F., Giovinazzo J., Tan A.U., Shahidullah R., Haslett P., Kaplan G., Levis W.R.
J Drugs Dermatol 11:626-630(2012) · Mapped (3) |
| Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Naj A.C., Jun G., Beecham G.W., Wang L.S., Vardarajan B.N., Buros J., Gallins P.J., Buxbaum J.D., Jarvik G.P., Crane P.K. et al.
Nat. Genet. 43:436-441(2011) · Mapped (15) |
| Expression of CD70 and the TH17 transcription factor RORgammaT in human contact dermatitis. Martiniuk F., Lee D.S., Gaspari A., Yee H., Chiriboga L., Huie M., Tchou-Wong K.M., Levis W.R.
J Drugs Dermatol 7:956-960(2008) · Mapped (9) |
| The effects of normal aging and ApoE genotype on the levels of CSF biomarkers for Alzheimer's disease. Glodzik-Sobanska L., Pirraglia E., Brys M., de Santi S., Mosconi L., Rich K.E., Switalski R., Saint Louis L., Sadowski M.J., Martiniuk F. et al.
Neurobiol. Aging 30:672-681(2009) · Mapped (11) |
| A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease. Dou W., Gu X., Fu L., Peng C., Zheng J., Martiniuk F., Sheng H.Z.
Clin. Chim. Acta 374:145-146(2006) · UniProtKB (1) |
| Interleukin-10 induces inhibitory C/EBPbeta through STAT-3 and represses HIV-1 transcription in macrophages. Tanaka N., Hoshino Y., Gold J., Hoshino S., Martiniuk F., Kurata T., Pine R., Levy D., Rom W.N., Weiden M.
Am. J. Respir. Cell Mol. Biol. 33:406-411(2005) · Mapped (7) |
| New GAA mutations in Japanese patients with GSDII (Pompe disease). Pipo J.R., Feng J.-H., Yamamoto T., Ohsaki Y., Nanba E., Tsujino S., Sakuragawa N., Martiniuk F., Ninomiya H., Oka A. et al.
Pediatr. Neurol. 29:284-287(2003) · UniProtKB (1) |
| Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene. Lam C.W., Yuen Y.P., Chan K.Y., Tong S.F., Lai C.K., Chow T.C., Lee K.C., Chan Y.W., Martiniuk F.
Neurology 60:715-717(2003) · UniProtKB (1) · Mapped (1) |
| Identification of two subtypes of infantile acid maltase deficiency. Slonim A.E., Bulone L., Ritz S., Goldberg T., Chen A., Martiniuk F.
J. Pediatr. 137:283-285(2000) |
| Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype. Tsunoda H., Ohshima T., Tohyama J., Sasaki M., Sakuragawa N., Martiniuk F.
Hum. Genet. 97:496-499(1996) · UniProtKB (1) |
| Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease). Huie M.L., Hirschhorn R., Chen A.S., Martiniuk F., Zhong N.
Hum. Mutat. 4:291-293(1994) · UniProtKB (1) |
| Identity of neutral alpha-glucosidase AB and the glycoprotein processing enzyme glucosidase II. Biochemical and genetic studies. Martiniuk F., Ellenbogen A., Hirschhorn R.
J. Biol. Chem. 260:1238-1242(1985) · UniProtKB (1) |
| Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients. Martiniuk F., Mehler M., Pellicer A., Tzall S., La Badie G., Hobart C., Ellenbogen A., Hirschhorn R.
Proc. Natl. Acad. Sci. U.S.A. 83:9641-9644(1986) · Mapped (5) |
| Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells. Martiniuk F., Bodkin M., Tzall S., Hirschhorn R.
Am. J. Hum. Genet. 47:440-445(1990) · UniProtKB (1) |
| Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. Martiniuk F., Mehler M., Tzall S., Meredith G., Hirschhorn R.
DNA Cell Biol. 9:85-94(1990) · UniProtKB (1) |
| Linkage of acid alpha-glucosidase (Gaa) and thymidine kinase (Tk-1) to esterase-3 (Es-3) on mouse chromosome 11. Martiniuk F., Hirschhorn R., D'Eustachio P.
Mamm. Genome 1:267-269(1991) · Mapped (11) |
| Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele. Martiniuk F., Mehler M., Bodkin M., Tzall S., Hirschhorn K., Zhong N., Hirschhorn R.
DNA Cell Biol. 10:681-687(1991) · UniProtKB (1) |
| Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele. Zhong N., Martiniuk F., Tzall S., Hirschhorn R.
Am. J. Hum. Genet. 49:635-645(1991) · UniProtKB (1) |
