| Inhibition of Pim1 kinase prevents peanut allergy by enhancing Runx3 expression and suppressing T(H)2 and T(H)17 T-cell differentiation. Wang M., Okamoto M., Domenico J., Han J., Ashino S., Shin Y.S., Gelfand E.W.
J. Allergy Clin. Immunol. 130:932-44.e12(2012) · Mapped (5) |
| Microbial heat shock protein 65 attenuates airway hyperresponsiveness and inflammation by modulating the function of dendritic cells. Shin Y.S., Takeda K., Shiraishi Y., Jeong Y.Y., Domenico J., Jia Y., Han J., Spallek R., Singh M., Lucas J.J. et al.
J. Immunol. 189:3404-3410(2012) · Mapped (10) |
| Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations. Schmidt D., Shin Y.S., Auw-Haedrich C., Tacke U.
Acta Ophthalmol 89:489-494(2011) · Mapped (18) |
| Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa. Aoyama Y., Endo Y., Ebara T., Murase T., Shin Y.S., Podskarbi T., Ozer I., Demirkol M., Gokcay G., Okubo M.
Pediatr Int 52:145-147(2010) · Mapped (2) |
| Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. Aoyama Y., Ozer I., Demirkol M., Ebara T., Murase T., Podskarbi T., Shin Y.S., Gokcay G., Okubo M.
J. Hum. Genet. 54:681-686(2009) · Mapped (4) |
| Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId. Endo Y., Fateen E., El Shabrawy M., Aoyama Y., Ebara T., Murase T., Podskarbi T., Shin Y.S., Okubo M.
Clin. Chem. Lab. Med. 47:1233-1238(2009) · Mapped (2) |
| Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey. Endo Y., Horinishi A., Vorgerd M., Aoyama Y., Ebara T., Murase T., Odawara M., Podskarbi T., Shin Y.S., Okubo M.
J. Hum. Genet. 51:958-963(2006) · Mapped (2) |
| Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. Anneser J.M., Pongratz D.E., Podskarbi T., Shin Y.S., Schoser B.G.
Neurology 64:368-370(2005) · UniProtKB (1) · Mapped (1) |
| Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Stojanov S., Lohse P., Lohse P., Hoffmann F., Renner E.D., Zellerer S., Kery A., Shin Y.S., Haas D., Hoffmann G.F. et al.
Arthritis Rheum. 50:1951-1958(2004) · Mapped (9) |
| Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Burwinkel B., Hu B., Schroers A., Clemens P.R., Moses S.W., Shin Y.S., Pongratz D., Vorgerd M., Kilimann M.W.
Eur. J. Hum. Genet. 11:516-526(2003) · UniProtKB (2) · Mapped (2) |
| G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family. Orimo H., Shin Y.S., Shimada T.
J. Inherit. Metab. Dis. 25:601-602(2002) · Mapped (4) |
| Increased C-reactive protein following hemodialysis predicts cardiac hypertrophy in chronic hemodialysis patients. Park C.W., Shin Y.S., Kim C.M., Lee S.Y., Yu S.E., Kim S.Y., Choi E.J., Chang Y.S., Bang B.K.
Am. J. Kidney Dis. 40:1230-1239(2002) · Mapped (3) |
| An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening. Reich S., Hennermann J., Vetter B., Neumann L.M., Shin Y.S., Soling A., Monch E., Kulozik A.E.
Pediatr. Res. 51:598-601(2002) · Mapped (5) |
| The effect of C677T mutation of methylene tetrahydrofolate reductase gene and plasma folate level on hyperhomocysteinemia in patients with meningomyelocele. Lee B.H., Cheong H.I., Shin Y.S., Cho B.K., Wang K.C.
Childs Nerv Syst 16:559-563(2000) · Mapped (6) |
| Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Ziemssen F., Sindern E., Schroder J.M., Shin Y.S., Zange J., Kilimann M.W., Malin J.P., Vorgerd M.
Ann. Neurol. 47:536-540(2000) · UniProtKB (1) |
| Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene. Huener G., Podskarbi T., Schuetz M., Baykal T., Sarbat G., Shin Y.S., Demirkol M.
J. Inherit. Metab. Dis. 21:445-446(1998) · UniProtKB (1) |
| Mutations in the liver glycogen phosphorylase gene 'PYGL' underlying glycogenosis type VI. Burwinkel B., Bakker H.D., Herschkovitz E., Moses S.W., Shin Y.S., Kilimann M.W.
Am. J. Hum. Genet. 62:785-791(1998) · UniProtKB (1) |
| A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. Keller K.M., Schuetz M., Podskarbi T., Bindl L., Lentze M.J., Shin Y.S.
J. Pediatr. 132:360-361(1998) · UniProtKB (1) |
| Molecular and phylogenetic analyses of the haemagglutinin (H) proteins of field isolates of canine distemper virus from naturally infected dogs. Iwatsuki K., Miyashita N., Yoshida E., Gemma T., Shin Y.S., Mori T., Hirayama N., Kai C., Mikami T.
J. Gen. Virol. 78:373-380(1997) · UniProtKB (3) |
| Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia. Shin Y.S., Gathof B.S., Podskarbi T., Sommer M., Giugliani R., Gresser U.
Eur. J. Pediatr. 155:393-397(1996) · UniProtKB (1) |
| Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). Burwinkel B., Shin Y.S., Bakker H.D., Deutsch J., Lozano M.J., Maire I., Kilimann M.W.
Hum. Mol. Genet. 5:653-658(1996) · UniProtKB (1) |
| Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. Sommer M., Gathof B.S., Podskarbi T., Giugliani R., Kleinlein B., Shin Y.S.
J. Inherit. Metab. Dis. 18:567-576(1995) · UniProtKB (1) |
| Feline immunodeficiency virus gene expression: analysis of the RNA splicing pattern and the monocistronic rev mRNA. Tomonaga K., Shin Y.S., Fukasawa M., Miyazawa T., Adachi A., Mikami T.
J. Gen. Virol. 74:2409-2417(1993) · UniProtKB (1) |
