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Izabela Makalowska
Researcher at Adam Mickiewicz University in Poznań
Publications - 97
Citations - 6685
Izabela Makalowska is an academic researcher from Adam Mickiewicz University in Poznań. The author has contributed to research in topics: Gene & Genome. The author has an hindex of 33, co-authored 94 publications receiving 6030 citations. Previous affiliations of Izabela Makalowska include Silesian University of Technology & National Institutes of Health.
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SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans
Rebecca L. Lamason,Manzoor Ali P.K. Mohideen,Manzoor Ali P.K. Mohideen,Jason R. Mest,Andrew C.C. Wong,Andrew C.C. Wong,Heather L. Norton,Michele C. Aros,Michael J. Jurynec,Xianyun Mao,Vanessa R. Humphreville,Jasper E. Humbert,Jasper E. Humbert,Soniya Sinha,Jessica L. Moore,Jessica L. Moore,Pudur Jagadeeswaran,Wei Zhao,Gang Ning,Izabela Makalowska,Paul M. McKeigue,David H. O'Donnell,Rick A. Kittles,Esteban J. Parra,N. J. Mangini,David Grunwald,Mark D. Shriver,Victor A. Canfield,Keith C. Cheng +28 more
TL;DR: It is shown that zebrafish golden mutants share these melanosomal changes and that golden encodes a putative cation exchanger slc24a5 (nckx5) that localizes to an intracellular membrane, likely the melanosome or its precursor.
Journal ArticleDOI
FUSARIUM-ID v. 1.0: A DNA sequence database for identifying Fusarium
David M. Geiser,María del Mar Jiménez-Gasco,Seogchan Kang,Izabela Makalowska,Narayanan Veeraraghavan,Todd J. Ward,Ning Zhang,Gretchen A. Kuldau,Kerry O'Donnell +8 more
TL;DR: FUSARIUM-ID v. 1.0, a publicly available database of partial translation elongation factor 1-alpha (TEF) DNA sequences, presently representing a selected sample of the diversity of the genus diversity, with excellent representation of Type-B trichothecene toxin producers, and the Gibberella fujikuroi, Fusarium oxysporum and F. solani species complexes.
Journal ArticleDOI
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Susan A. Slaugenhaupt,Anat Blumenfeld,Sandra Gill,Maire Leyne,James Mull,Math P. Cuajungco,Christopher B. Liebert,Brian P. Chadwick,Maria Idelson,Luba Reznik,Christiane M. Robbins,Izabela Makalowska,Michael J. Brownstein,Daniel Krappmann,Claus Scheidereit,Channa Maayan,Felicia B. Axelrod,James F. Gusella +17 more
TL;DR: It is indicated that almost all cases of FD are caused by an unusual splice defect that displays tissue-specific expression; and they also provide the basis for rapid carrier screening in the Ashkenazi Jewish population.
Journal ArticleDOI
Germline mutations in the ribonuclease L gene in families showing linkage with HPC1.
John D. Carpten,Nina N. Nupponen,Sarah D. Isaacs,Raman Sood,Christiane M. Robbins,Jianfeng Xu,Mezbah U. Faruque,Tracy Moses,Charles M. Ewing,E. Gillanders,Ping Hu,Piroska Bujnovszky,Izabela Makalowska,Agnes Baffoe-Bonnie,Agnes Baffoe-Bonnie,Dennis A. Faith,Jeffrey R. Smith,Dietrich A. Stephan,Kathy E. Wiley,Mike Brownstein,Derek Gildea,Brian Kelly,Robert B. Jenkins,Galen Hostetter,Mika P. Matikainen,Johanna Schleutker,Katherine W. Klinger,Timothy D. Connors,Ying Xiang,Zhaocheng Wang,A. M. De Marzo,Nickolas Papadopoulos,O. P. Kallioniemi,Robert D. Burk,Deborah A. Meyers,Henrik Grönberg,P. Meltzer,Robert H. Silverman,Joan E. Bailey-Wilson,Patrick C. Walsh,W. Isaacs,Jeffrey M. Trent +41 more
TL;DR: It is found that microdissected tumors with a germline mutation showed loss of heterozygosity and loss of RNase L protein, and that RNASEL activity was reduced in lymphoblasts from heterozyogous individuals compared with family members who were homozygous with respect to the wildtype allele.
Journal ArticleDOI
Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones
Tadashi Imanishi,Takeshi Itoh,Yutaka Suzuki,Claire O'Donovan,Satoshi Fukuchi,Kanako O. Koyanagi,Roberto A. Barrero,Takuro Tamura,Yumi Yamaguchi-Kabata,Motohiko Tanino,Kei Yura,Satoru Miyazaki,Kazuho Ikeo,Keiichi Homma,Arek Kasprzyk,Tetsuo Nishikawa,Mika Hirakawa,Jean Thierry-Mieg,Jean Thierry-Mieg,Danielle Thierry-Mieg,Danielle Thierry-Mieg,Jennifer L. Ashurst,Libin Jia,Mitsuteru Nakao,Michael A. Thomas,Nicola Mulder,Youla Karavidopoulou,Lihua Jin,Sangsoo Kim,Tomohiro Yasuda,Boris Lenhard,Eric Eveno,Yoshiyuki Suzuki,Chisato Yamasaki,Jun-ichi Takeda,Craig A. Gough,Phillip Hilton,Yasuyuki Fujii,Hiroaki Sakai,Susumu Tanaka,Clara Amid,Matthew I. Bellgard,Maria de Fatima Bonaldo,Hidemasa Bono,Susan Bromberg,Anthony J. Brookes,Elspeth A. Bruford,Piero Carninci,Claude Chelala,Christine Couillault,Sandro J. de Souza,Marie-Anne Debily,Marie-Dominique Devignes,Inna Dubchak,Toshinori Endo,Anne Estreicher,Eduardo Eyras,Kaoru Fukami-Kobayashi,Gopal R. Gopinath,Esther Graudens,Yoonsoo Hahn,Michael Han,Ze-Guang Han,Kousuke Hanada,Hideki Hanaoka,Erimi Harada,Katsuyuki Hashimoto,Ursula Hinz,Momoki Hirai,Teruyoshi Hishiki,Ian Hopkinson,Sandrine Imbeaud,Hidetoshi Inoko,Hidetoshi Inoko,Alexander Kanapin,Yayoi Kaneko,Takeya Kasukawa,Janet Kelso,Paul J. Kersey,Reiko Kikuno,Kouichi Kimura,Bernhard Korn,Vladimir Kuryshev,Izabela Makalowska,Takashi Makino,Shuhei Mano,Régine Mariage-Samson,Jun Mashima,Hideo Matsuda,Hans-Werner Mewes,Shinsei Minoshima,Shinsei Minoshima,Keiichi Nagai,Hideki Nagasaki,Naoki Nagata,Rajni Nigam,Osamu Ogasawara,Osamu Ohara,Masafumi Ohtsubo,Norihiro Okada,Toshihisa Okido,Satoshi Oota,Motonori Ota,Toshio Ota,Tetsuji Otsuki,Dominique Piatier-Tonneau,Annemarie Poustka,Shuang-Xi Ren,Naruya Saitou,Katsunaga Sakai,Shigetaka Sakamoto,Ryuichi Sakate,Ingo Schupp,Florence Servant,Stephen T. Sherry,Rie Shiba,Nobuyoshi Shimizu,Mary Shimoyama,Andrew J. G. Simpson,Bento Soares,Charles A. Steward,Makiko Suwa,Mami Suzuki,Aiko Takahashi,Gen Tamiya,Gen Tamiya,Hiroshi Tanaka,Todd D. Taylor,Joseph D. Terwilliger,Per Unneberg,Vamsi Veeramachaneni,Shinya Watanabe,Laurens G. Wilming,Norikazu Yasuda,Hyang-Sook Yoo,Marvin Stodolsky,Wojciech Makalowski,Mitiko Go,Kenta Nakai,Toshihisa Takagi,Minoru Kanehisa,Yoshiyuki Sakaki,John Quackenbush,Yasushi Okazaki,Yoshihide Hayashizaki,Winston Hide,Ranajit Chakraborty,Ken Nishikawa,Hideaki Sugawara,Yoshio Tateno,Zhu Chen,Zhu Chen,Michio Oishi,Peter J. Tonellato,Rolf Apweiler,Kousaku Okubo,Kousaku Okubo,Lukas Wagner,Stefan Wiemann,Robert L. Strausberg,Takao Isogai,Charles Auffray,Nobuo Nomura,Takashi Gojobori,Takashi Gojobori,Takashi Gojobori,Sumio Sugano,Sumio Sugano +167 more
TL;DR: The H-InvDB as discussed by the authors is a database of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level.