25 results for author:"Kelley R.I." in Literature citations
Results Customize
› Repeat search in UniProtKB (14)
| Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Basel-Vanagaite L., Dallapiccola B., Ramirez-Solis R., Segref A., Thiele H., Edwards A., Arends M.J., Miro X., White J.K., Desir J. et al. Am. J. Hum. Genet. 91:998-1010(2012) · Mapped (4) |
| Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo. Stottmann R.W., Turbe-Doan A., Tran P., Kratz L.E., Moran J.L., Kelley R.I., Beier D.R. PLoS Genet. 7:e1002224-e1002224(2011) · Mapped (55) |
| Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. He M., Kratz L.E., Michel J.J., Vallejo A.N., Ferris L., Kelley R.I., Hoover J.J., Jukic D., Gibson K.M., Wolfe L.A. et al. J. Clin. Invest. 121:976-984(2011) · Mapped (1) |
| Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. McLarren K.W., Severson T.M., du Souich C., Stockton D.W., Kratz L.E., Cunningham D., Hendson G., Morin R.D., Wu D., Paul J.E. et al. Am. J. Hum. Genet. 87:905-914(2010) · UniProtKB (1) · Mapped (4) |
| A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3. Pei W., Kratz L.E., Bernardini I., Sood R., Yokogawa T., Dorward H., Ciccone C., Kelley R.I., Anikster Y., Burgess H.A. et al. Development 137:2587-2596(2010) · Mapped (3) |
| Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. Witsch-Baumgartner M., Schwentner I., Gruber M., Benlian P., Bertranpetit J., Bieth E., Chevy F., Clusellas N., Estivill X., Gasparini G. et al. J. Med. Genet. 45:200-209(2008) · Mapped (3) |
| Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. Witsch-Baumgartner M., Clayton P., Clusellas N., Haas D., Kelley R.I., Krajewska-Walasek M., Lechner S., Rossi M., Zschocke J., Utermann G. Hum. Mutat. 25:412-412(2005) · Mapped (3) |
| Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme. Caldas H., Cunningham D., Wang X., Jiang F., Humphries L., Kelley R.I., Herman G.E. Mol. Genet. Metab. 84:48-60(2005) · Mapped (13) |
| Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. Witsch-Baumgartner M., Gruber M., Kraft H.G., Rossi M., Clayton P., Giros M., Haas D., Kelley R.I., Krajewska-Walasek M., Utermann G. J. Med. Genet. 41:577-584(2004) · Mapped (15) |
| Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Krakowiak P.A., Wassif C.A., Kratz L., Cozma D., Kovarova M., Harris G., Grinberg A., Yang Y., Hunter A.G.W., Tsokos M. et al. Hum. Mol. Genet. 12:1631-1641(2003) · UniProtKB (1) · Mapped (3) |
| Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Waterham H.R., Koster J., Mooyer P., van Noort G., Kelley R.I., Wilcox W.R., Wanders R.J., Hennekam R.C.M., Oosterwijk J.C. Am. J. Hum. Genet. 72:1013-1017(2003) · UniProtKB (1) · Mapped (1) |
| Mutant deoxynucleotide carrier is associated with congenital microcephaly. Rosenberg M.J., Agarwala R., Bouffard G., Davis J., Fiermonte G., Hilliard M.S., Koch T., Kalikin L.M., Makalowska I., Morton D.H. et al. |
| Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Michele D.E., Barresi R., Kanagawa M., Saito F., Cohn R.D., Satz J.S., Dollar J., Nishino I., Kelley R.I., Somer H. et al. |
| Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Waterham H.R., Koster J., Romeijn G.J., Hennekam R.C.M., Vreken P., Andersson H.C., FitzPatrick D.R., Kelley R.I., Wanders R.J.A. Am. J. Hum. Genet. 69:685-694(2001) · UniProtKB (2) · Mapped (3) |
| Mouse Tdho abnormality results from double point mutations of the emopamil binding protein gene (Ebp). Seo K.W., Kelley R.I., Okano S., Watanabe T. Mamm. Genome 12:602-605(2001) · Mapped (2) |
| Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Houten S.M., Koster J., Romeijn G.-J., Frenkel J., Di Rocco M., Caruso U., Landrieu P., Kelley R.I., Kuis W., Poll-The B.T. et al. Eur. J. Hum. Genet. 9:253-259(2001) · UniProtKB (1) |
| Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. Wassif C.A., Zhu P., Kratz L., Krakowiak P.A., Battaile K.P., Weight F.F., Grinberg A., Steiner R.D., Nwokoro N.A., Kelley R.I. et al. Hum. Mol. Genet. 10:555-564(2001) · Mapped (7) |
| Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Witsch-Baumgartner M., Ciara E., Loffler J., Menzel H.J., Seedorf U., Burn J., Gillessen-Kaesbach G., Hoffmann G.F., Fitzky B.U., Mundy H. et al. Eur. J. Hum. Genet. 9:45-50(2001) · UniProtKB (1) |
| A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Johnston J.J., Kelley R.I., Crawford T.O., Morton D.H., Agarwala R., Koch T., Schaeffer A.A., Francomano C.A., Biesecker L.G. Am. J. Hum. Genet. 67:814-821(2000) · UniProtKB (1) · Mapped (2) |
| Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Witsch-Baumgartner M., Fitzky B.U., Ogorelkova M., Kraft H.G., Moebius F.F., Glossmann H., Seedorf U., Gillessen-Kaesbach G., Hoffmann G.F., Clayton P. et al. Am. J. Hum. Genet. 66:402-412(2000) · UniProtKB (1) |
| Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Braverman N., Lin P., Moebius F.F., Obie C., Moser A., Glossmann H., Wilcox W.R., Rimoin D.L., Smith M., Kratz L. et al. Nat. Genet. 22:291-294(1999) · UniProtKB (1) |
| Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Derry J.M.J., Gormally E., Means G.D., Zhao W., Meindl A., Kelley R.I., Boyd Y., Herman G.E. |
| The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Liu X.Y., Dangel A.W., Kelley R.I., Zhao W., Denny P., Botcherby M., Cattanach B., Peters J., Hunsicker P.R., Mallon A.-M. et al. |
| A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Aoyama T., Uchida Y., Kelley R.I., Marble M., Hofman K., Tonsgard J.H., Rhead W.J., Hashimoto T. Biochem. Biophys. Res. Commun. 191:1369-1372(1993) · Mapped (3) |
| Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. Aoyama T., Souri M., Ushikubo S., Kamijo T., Yamaguchi S., Kelley R.I., Rhead W.J., Uetake K., Tanaka K., Hashimoto T. J. Clin. Invest. 95:2465-2473(1995) · UniProtKB (1) · Mapped (3) |