16 results for author:"Makalowska I." in Literature citations
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| Comparative analysis of an unusual gene arrangement in the human chromosome 1. Makalowska I. Gene 423:172-179(2008) · Mapped (2) |
| Identification of human tRNA:m5C methyltransferase catalysing intron-dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA). Brzezicha B., Schmidt M., Makalowska I., Jarmolowski A., Pienkowska J., Szweykowska-Kulinska Z. Nucleic Acids Res. 34:6034-6043(2006) · UniProtKB (1) · Mapped (4) |
| SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Lamason R.L., Mohideen M.-A.P.K., Mest J.R., Wong A.C., Norton H.L., Aros M.C., Jurynec M.J., Mao X., Humphreville V.R., Humbert J.E. et al. |
| Identification and characterization of mouse Rab32 by mRNA and protein expression analysis. Cohen-Solal K.A., Sood R., Marin Y., Crespo-Carbone S.M., Sinsimer D., Martino J.J., Robbins C., Makalowska I., Trent J., Chen S. Biochim. Biophys. Acta 1651:68-75(2003) · UniProtKB (1) · Mapped (2) |
| Cloning and characterization of a novel gene, SHPRH, encoding a conserved putative protein with SNF2/helicase and PHD-finger domains from the 6q24 region. Sood R., Makalowska I., Galdzicki M., Hu P., Eddings E., Robbins C.M., Moses T., Namkoong J., Chen S., Trent J.M. |
| Melanoma mouse model implicates metabotropic glutamate signaling in melanocytic neoplasia. Pollock P.M., Cohen-Solal K., Sood R., Namkoong J., Martino J.J., Koganti A., Zhu H., Robbins C., Makalowska I., Shin S.S. et al. Nat. Genet. 34:108-112(2003) · Mapped (3) |
| 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. |
| Identification of six novel genes by experimental validation of GeneMachine predicted genes. Makalowska I., Sood R., Faruque M.U., Hu P., Robbins C.M., Eddings E.M., Mestre J.D., Baxevanis A.D., Carpten J.D. Gene 284:203-213(2002) · UniProtKB (6) |
| Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Carpten J., Nupponen N., Isaacs S., Sood R., Robbins C., Xu J., Faruque M., Moses T., Ewing C., Gillanders E. et al. Nat. Genet. 30:181-184(2002) · UniProtKB (1) |
| Isolation and characterization of the human homeobox gene HOX D1. Appukuttan B., Sood R., Ott S., Makalowska I., Patel R.J., Wang X., Robbins C.M., Brownstein M.J., Stout J.T. Mol. Biol. Rep. 27:195-201(2000) · UniProtKB (1) · Mapped (2) |
| Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Slaugenhaupt S.A., Blumenfeld A., Gill S.P., Leyne M., Mull J., Cuajungco M.P., Liebert C.B., Chadwick B.P., Idelson M., Reznik L. et al. Am. J. Hum. Genet. 68:598-605(2001) · UniProtKB (1) · Mapped (3) |
| The human RGL (RalGDS-like) gene: cloning, expression analysis and genomic organization. Sood R., Makalowska I., Carpten J.D., Robbins C.M., Stephan D.A., Connors T.D., Morgenbesser S.D., Su K., Pinkett H.W., Graham C.L. et al. Biochim. Biophys. Acta 1491:285-288(2000) · UniProtKB (1) |
| Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Chadwick B.P., Leyne M., Gill S., Liebert C.B., Mull J., Mezey E., Robbins C.M., Pinkett H.W., Makalowska I., Maayan C. et al. Mamm. Genome 11:81-83(2000) · UniProtKB (2) |
| Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene. Chadwick B.P., Gill S., Leyne M., Mull J., Liebert C.B., Robbins C.M., Pinkett H.W., Makalowska I., Maayan C., Blumenfeld A. et al. Gene 240:67-73(1999) · UniProtKB (1) |
| CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Marcelino J., Carpten J.D., Suwairi W.M., Gutierrez O.M., Schwartz S., Robbins C., Sood R., Makalowska I., Baxevanis A., Johnstone B. et al. Nat. Genet. 23:319-322(1999) · UniProtKB (1) |
| Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. Chadwick B.P., Mull J., Helbling L.A., Gill S., Leyne M., Robbins C.M., Pinkett H.W., Makalowska I., Maayan C., Blumenfeld A. et al. |

