1 - 25 of 169 results for author:"Uitto J." in Literature citations
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| Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts. Umemoto H., Akiyama M., Domon T., Nomura T., Shinkuma S., Ito K., Asaka T., Sawamura D., Uitto J., Uo M. et al. Am. J. Pathol. 181:1659-1671(2012) · Mapped (2) |
| A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse. Li Q., Berndt A., Guo H., Sundberg J.P., Uitto J. Am. J. Pathol. 181:1190-1196(2012) · Mapped (1) |
| Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Sarig O., Nahum S., Rapaport D., Ishida-Yamamoto A., Fuchs-Telem D., Qiaoli L., Cohen-Katsenelson K., Spiegel R., Nousbeck J., Israeli S. et al. Am. J. Hum. Genet. 91:337-342(2012) · UniProtKB (1) · Mapped (3) |
| Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis. Li Q., Guo H., Matsui H., Honda H., Inaba T., Sundberg J.P., Sprecher E., Uitto J. Exp. Dermatol. 21:554-556(2012) · Mapped (7) |
| Familial pityriasis rubra pilaris is caused by mutations in CARD14. Fuchs-Telem D., Sarig O., van Steensel M.A., Isakov O., Israeli S., Nousbeck J., Richard K., Winnepenninckx V., Vernooij M., Shomron N. et al. Am. J. Hum. Genet. 91:163-170(2012) · UniProtKB (1) · Mapped (3) |
| Connective tissue mineralization in Abcc6-/- mice, a model for pseudoxanthoma elasticum. Kavukcuoglu N.B., Li Q., Pleshko N., Uitto J. Matrix Biol. 31:246-252(2012) · Mapped (1) |
| ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum. Fulop K., Jiang Q., Wetering K.V., Pomozi V., Szabo P.T., Aranyi T., Sarkadi B., Borst P., Uitto J., Varadi A. Biochem. Biophys. Res. Commun. 415:468-471(2011) · Mapped (7) |
| Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. Li Q., Frank M., Akiyama M., Shimizu H., Ho S.Y., Thisse C., Thisse B., Sprecher E., Uitto J. Dis Model Mech 4:777-785(2011) · Mapped (7) |
| PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia. Tamai K., Yamazaki T., Chino T., Ishii M., Otsuru S., Kikuchi Y., Iinuma S., Saga K., Nimura K., Shimbo T. et al. Proc. Natl. Acad. Sci. U.S.A. 108:6609-6614(2011) · Mapped (15) |
| Expression of the Abca-subfamily of genes in Abcc6-/- mice--upregulation of Abca4. Li Q., Uitto J. Exp. Dermatol. 20:452-454(2011) · Mapped (4) |
| The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development. Jiang Q., Quaynor B., Sun A., Li Q., Matsui H., Honda H., Inaba T., Sprecher E., Uitto J. J. Invest. Dermatol. 131:1428-1434(2011) · Mapped (8) |
| Zebrafish: a model system to study heritable skin diseases. Li Q., Frank M., Thisse C.I., Thisse B.V., Uitto J. J. Invest. Dermatol. 131:565-571(2011) · Mapped (84) |
| Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene. Li Q., Sadowski S., Uitto J. J. Invest. Dermatol. 131:782-785(2011) · Mapped (6) |
| Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. Hershkovitz D., Gross Y., Nahum S., Yehezkel S., Sarig O., Uitto J., Sprecher E. J. Invest. Dermatol. 131:662-669(2011) · UniProtKB (2) · Mapped (9) |
| Zebrafish type XVII collagen: gene structures, expression profiles, and morpholino "knock-down" phenotypes. Kim S.H., Choi H.Y., So J.H., Kim C.H., Ho S.Y., Frank M., Li Q., Uitto J. Matrix Biol. 29:629-637(2010) · Mapped (5) |
| The abcc6a gene expression is required for normal zebrafish development. Li Q., Sadowski S., Frank M., Chai C., Varadi A., Ho S.Y., Lou H., Dean M., Thisse C., Thisse B. et al. J. Invest. Dermatol. 130:2561-2568(2010) · Mapped (1) |
| Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum. Jiang Q., Oldenburg R., Otsuru S., Grand-Pierre A.E., Horwitz E.M., Uitto J. Am. J. Pathol. 176:1855-1862(2010) · Mapped (12) |
| Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)). Jiang Q., Dibra F., Lee M.D., Oldenburg R., Uitto J. J. Invest. Dermatol. 130:1288-1296(2010) · Mapped (1) |
| Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. Uitto J., Li Q., Jiang Q. J. Invest. Dermatol. 130:661-670(2010) · Mapped (6) |
| Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Chung H.J., Uitto J. Dermatol Clin 28:93-105(2010) · Mapped (2) |
| Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. Mahoney M.G., Sadowski S., Brennan D., Pikander P., Saukko P., Wahl J., Aho H., Heikinheimo K., Bruckner-Tuderman L., Fertala A. et al. J. Invest. Dermatol. 130:968-978(2010) · Mapped (8) |
| Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation. Ito K., Sawamura D., Goto M., Nakamura H., Nishie W., Sakai K., Natsuga K., Shinkuma S., Shibaki A., Uitto J. et al. Am. J. Pathol. 175:2508-2517(2009) · Mapped (2) |
| The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum. Li Q., Uitto J. J. Mol. Med. 88:173-181(2010) · Mapped (4) |
| Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)). LaRusso J., Li Q., Jiang Q., Uitto J. J. Invest. Dermatol. 129:1388-1394(2009) · Mapped (1) |
| Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Li Q., Schurgers L.J., Smith A.C., Tsokos M., Uitto J., Cowen E.W. Am. J. Pathol. 174:534-540(2009) · Mapped (7) |