Works matching IS 10614036 AND DT 2001 AND VI 27 AND IP 1

Results: 34

Chopping and changing.

Published in:: Nature Genetics, 2001, v. 27, n. 1, p. 1, doi. 10.1038/83655
Publication type:: Article

Cytoskeletal catastrophe causes brain degeneration.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 10, doi. 10.1038/83657

By:

Quinlan, Roy

Publication type:

Article

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 103, doi. 10.1038/83660

By:

Palma, Federica Di;
Holme, Ralph H.;
Bryda, Elizabeth C.;
Belyantseva, Inna A.;
Pellegrino, Richard;
Kachar, Bechara;
Steel, Karen P.;
Noben-Trauth, Konrad

Publication type:

Article

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 108, doi. 10.1038/83667

By:

Bolz, Hanno;
von Brederlow, Benigna;
Ramírez, Alfredo;
Bryda, Elizabeth C.;
Kutsche, Kerstin;
Nothwang, Hans Gerd;
Seeliger, Mathias;
Cabrera, Maria del C.-Salcedó;
Vila, Manuel Caballeró;
Molina, Orfilio Pelaez;
Gal, Andreas;
Kubisch, Christian

Publication type:

Article

SGS1, the Saccharomyces cerevisiae homologue of BLM and WRN, suppresses genome instability and homeologous recombination.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 113, doi. 10.1038/83673

By:

Myung, Kyungjae;
Datta, Abhijit;
Chen, Clark;
Kolodner, Richard D.

Publication type:

Article

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 117, doi. 10.1038/83679

By:

Brenner, Michael;
Johnson, Anne B.;
Boespflug-Tanguy, Odile;
Rodriguez, Diana;
Goldman, James E.;
Messing, Albee

Publication type:

Article

Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 121

By:

Péterfy, Miklós;
Phan, Jack;
Xu, Ping;
Reue, Karen

Publication type:

Article

Corrections.

Published in:: Nature Genetics, 2001, v. 27, n. 1, p. 125, doi. 10.1038/83691
Publication type:: Article

Erratum.

Published in:: Nature Genetics, 2001, v. 27, n. 1, p. 125, doi. 10.1038/83693
Publication type:: Article

TOUCHINGbase.

Published in:: Nature Genetics, 2001, v. 27, n. 1, p. 13
Publication type:: Article

Cloning reality into fiction.

Published in:

2001

By:

Goldman, Michael A

Publication type:

Book Review

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 17, doi. 10.1038/83703

By:

Mavrogiannis, Lampros A.;
Antonopoulou, Ileana;
Baxová, Alica;
Kutílek, Stepán;
Kim, Chong A.;
Sugayama, Sofia M.;
Salamanca, Alberto;
Wall, Steven A.;
Morriss-Kay, Gillian M.;
Wilkie, Andrew O.M.

Publication type:

Article

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 18, doi. 10.1038/83707

By:

Wildin, Robert S.;
Ramsdell, Fred;
Peake, Jane;
Faravelli, Francesca;
Casanova, Jean-Laurent;
Buist, Neil;
Levy-Lahad, Ephrat;
Mazzella, Massimo;
Goulet, Olivier;
Perroni, Lucia;
Dagna Bricarelli, Franca;
Byrne, Geoffrey;
McEuen, Mark;
Proll, Sean;
Appleby, Mark;
Brunkow, Mary E.

Publication type:

Article

You say tomato, I say tomato.

Published in:: Nature Genetics, 2001, v. 27, n. 1, p. 2, doi. 10.1038/83711
Publication type:: Article

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 20, doi. 10.1038/83713

By:

Bennett, Craig L.;
Christie, Jacinda;
Ramsdell, Fred;
Brunkow, Mary E.;
Ferguson, Polly J.;
Whitesell, Luke;
Kelly, Thaddeus E.;
Saulsbury, Frank T.;
Chance, Phillip F.;
Ochs, Hans D.

Publication type:

Article

Dominant effector genetics in mammalian cells.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 23, doi. 10.1038/83717

By:

Xu, Xiang;
Leo, Cindy;
Jang, Yngju;
Chan, Eva;
Padilla, David;
Huang, Betty C.B.;
Lin, Tong;
Gururaja, Tarikere;
Hitoshi, Yasumichi;
Lorens, James B.;
Anderson, David C.;
Sikic, Branimir;
Luo, Ying;
Payan, Donald G.;
Nolan, Garry P.

Publication type:

Article

Arabidopsis arrives.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 3, doi. 10.1038/83726

By:

Bennetzen, Jeffrey L

Publication type:

Article

Loss of genomic methylation causes p53-dependent apoptosis and epigenetic deregulation.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 31, doi. 10.1038/83730

By:

Jackson-Grusby, Laurie;
Beard, Caroline;
Possemato, Richard;
Tudor, Matthew;
Fambrough, Douglas;
Csankovszki, Györgyi;
Dausman, Jessica;
Lee, Peggy;
Wilson, Christopher;
Lander, Eric;
Jaenisch, Rudolf

Publication type:

Article

A biochemical function for attractin in agouti-induced pigmentation and obesity.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 40, doi. 10.1038/83741

By:

He, Lin;
Gunn, Teresa M.;
Bouley, Donna M.;
Lu, Xin-Yun;
Watson, Stanley J.;
Schlossman, Stuart F.;
Duke-Cohan, Jonathan S.;
Barsh, Gregory S.

Publication type:

Article

Transcriptional regulation and function during the human cell cycle.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 48, doi. 10.1038/83751

By:

Cho, Raymond J.;
Huang, Mingxia;
Campbell, Michael J.;
Dong, Helin;
Steinmetz, Lars;
Sapinoso, Lisa;
Hampton, Garret;
Elledge, Stephen J.;
Davis, Ronald W.;
Lockhart, David J.

Publication type:

Article

Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 59, doi. 10.1038/83768

By:

Scott, Hamish S.;
Kudoh, Jun;
Wattenhofer, Marie;
Shibuya, Kazunori;
Berry, Asher;
Chrast, Roman;
Guipponi, Michel;
Wang, Jun;
Kawasaki, Kazuhiko;
Asakawa, Shuichi;
Minoshima, Shinsei;
Younus, Farah;
Mehdi, S. Qasim;
Radhakrishna, Uppala;
Papasavvas, Marie-Pierre;
Gehrig, Corinne;
Rossier, Colette;
Korostishevsky, Michael;
Gal, Andreas

Publication type:

Article

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 55, doi. 10.1038/83762

By:

Liu, Hong-Xiang;
Cartegni, Luca;
Zhang, Michael Q.;
Krainer, Adrian R.

Publication type:

Article

The power of point mutations.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 5, doi. 10.1038/83759

By:

Maquat, Lynne E

Publication type:

Article

A peptide needle in a signaling haystack.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 6, doi. 10.1038/83775

By:

Roepe, Paul D

Publication type:

Article

Bone morphogenetic protein-3 is a negative regulator of bone density.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 84, doi. 10.1038/83810

By:

Daluiski, Aaron;
Engstrand, Thomas;
Bahamonde, Matthew E.;
Gamer, Laura W.;
Agius, Eric;
Stevenson, Sharon L.;
Cox, Karen;
Rosen, Vicki;
Lyons, Karen M.

Publication type:

Article

Fish × 3.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 8, doi. 10.1038/83807

By:

Duyk, Geoff;
Schmitt, Karin

Publication type:

Article

Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 68, doi. 10.1038/83784

By:

Brunkow, Mary E.;
Jeffery, Eric W.;
Hjerrild, Kathryn A.;
Paeper, Bryan;
Clark, Lisa B.;
Yasayko, Sue-Ann;
Wilkinson, J. Erby;
Galas, David;
Ziegler, Steven F.;
Ramsdell, Fred

Publication type:

Article

The function of a stem-loop in telomerase RNA is linked to the DNA repair protein Ku.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 64, doi. 10.1038/83778

By:

Peterson, Suzanne E.;
Stellwagen, Anne E.;
Diede, Scott J.;
Singer, Miriam S.;
Haimberger, Zara W.;
Johnson, Catherine O.;
Tzoneva, Monika;
Gottschling, Daniel E.

Publication type:

Article

Vitamin A controls epithelial/mesenchymal interactions through Ret expression.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 74, doi. 10.1038/83792

By:

Batourina, Ekatherina;
Gim, Suzanna;
Bello, Natalie;
Shy, Michael;
Clagett-Dame, Margaret;
Srinivas, Shankar;
Costantini, Frank;
Mendelsohn, Cathy

Publication type:

Article

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 79, doi. 10.1038/83799

By:

Lee, Mi-Hye;
Lu, Kangmo;
Hazard, Star;
Yu, Hongwei;
Shulenin, Sergey;
Hidaka, Hideki;
Kojima, Hideto;
Allikmets, Rando;
Sakuma, Nagahiko;
Pegoraro, Rosemary;
Srivastava, Anand K.;
Salen, Gerald;
Dean, Michael;
Patel, Shailendra B.

Publication type:

Article

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 89, doi. 10.1038/83817

By:

Zhang, Kang;
Kniazeva, Marina;
Han, Min;
Li, Wen;
Yu, Zhengya;
Yang, Zhenglin;
Li, Yang;
Metzker, Michael L.;
Allikmets, Rando;
Zack, Donald J.;
Kakuk, Laura E.;
Lagali, Pamela S.;
Wong, Paul W.;
MacDonald, Ian M.;
Sieving, Paul A.;
Figueroa, David J.;
Austin, Christopher P.;
Gould, Robert J.;
Ayyagari, Radha

Publication type:

Article

A thyroid hormone receptor that is required for the development of green cone photoreceptors.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 94, doi. 10.1038/83829

By:

Ng, Lily;
Hurley, James B.;
Dierks, Blair;
Srinivas, Maya;
Saltó, Carmen;
Vennström, Björn;
Reh, Thomas A.;
Forrest, Douglas

Publication type:

Article

Methylation meets genomics.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 9, doi. 10.1038/83825

By:

Feinberg, Andrew P

Publication type:

Article

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 99, doi. 10.1038/83837

By:

Alagramam, Kumar N.;
Murcia, Crystal L.;
Kwon, Heajoon Y.;
Pawlowski, Karen S.;
Wright, Charles G.;
Woychik, Richard P.

Publication type:

Article