Works matching IS 10614036 AND DT 2000 AND VI 26 AND IP 3

Results: 37

Normal telomere lengths found in cloned cattle.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 272, doi. 10.1038/81559

By:

Tian, X. Cindy;
Xu, Jie;
Yang, Xiangzhong

Publication type:

Article

TOUCHINGbase.

Published in:: Nature Genetics, 2000, v. 26, n. 3, p. 261
Publication type:: Article

When more is better.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 257, doi. 10.1038/81529

By:

Petrini, John H J

Publication type:

Article

Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase γ-subunit.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 265, doi. 10.1038/81543

By:

Meij, Iwan C.;
Koenderink, Jan B.;
van Bokhoven, Hans;
Assink, Karin F.H.;
Tiel Groenestege, Wouter;
de Pont, Jan Joep H.H.M.;
Bindels, René J.M.;
Monnens, Leo A.H.;
van den Heuvel, Lambert P.W.J.;
Knoers, Nine V.A.M.

Publication type:

Article

Mater, a maternal effect gene required for early embryonic development in mice.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 267, doi. 10.1038/81547

By:

Tong, Zhi-Bin;
Gold, Lyn;
Pfeifer, Karl E.;
Dorward, Heidi;
Lee, Eric;
Bondy, Carolyn A.;
Dean, Jurrien;
Nelson, Lawrence M.

Publication type:

Article

Testing times.

Published in:: 2000
Publication type:: Editorial

The past within us.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 253, doi. 10.1038/81518

By:

Renfrew, Colin;
Forster, Peter;
Hurles, Matthew

Publication type:

Article

Of giant axons and curly hair.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 254, doi. 10.1038/81521

By:

Timmerman, Vincent;
De Jonghe, Peter;
Van Broeckhoven, Christine

Publication type:

Article

Viva la revolution! A report from the FANTOM Meeting.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 255, doi. 10.1038/81525

By:

Quackenbush, John

Publication type:

Article

A new face of the Rhesus antigen.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 258, doi. 10.1038/81532

By:

Heitman, Joseph;
Agre, Peter

Publication type:

Article

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 270, doi. 10.1038/81555

By:

Gal, Andreas;
Li, Yun;
Thompson, Debra A.;
Weir, Jessica;
Orth, Ulrike;
Jacobson, Samuel G.;
Apfelstedt-Sylla, Eckart;
Vollrath, Douglas

Publication type:

Article

Behaviour and the standardization fallacy.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 263, doi. 10.1038/81541

By:

Würbel, Hanno

Publication type:

Article

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 273, doi. 10.1038/81563

By:

Janssens, Katrien;
Gershoni-Baruch, Ruth;
Guañabens, Nuria;
Migone, Nicola;
Ralston, Stuart;
Bonduelle, Maryse;
Lissens, Willy;
Van Maldergem, Lionel;
Vanhoenacker, Filip;
Verbruggen, Leon;
Van Hul, Wim

Publication type:

Article

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 268, doi. 10.1038/81551

By:

Niemann, Stephan;
Müller, Ulrich

Publication type:

Article

The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 275, doi. 10.1038/81566

By:

Fusco, Maurizio De;
Becchetti, Andrea;
Patrignani, Andrea;
Annesi, Grazia;
Gambardella, Antonio;
Quattrone, Aldo;
Ballabio, Andrea;
Wanke, Enzo;
Casari, Giorgio

Publication type:

Article

Genes and addiction.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 277, doi. 10.1038/81570

By:

Nestler, Eric J.

Publication type:

Article

Analysis of yeast protein kinases using protein chips.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 283, doi. 10.1038/81576

By:

Zhu, Heng;
Klemic, James F.;
Chang, Swan;
Bertone, Paul;
Casamayor, Antonio;
Klemic, Kathryn G.;
Smith, David;
Gerstein, Mark;
Reed, Mark A.;
Snyder, Michael

Publication type:

Article

Senescence bypass screen identifies TBX2, which represses Cdkn2a (p19ARF) and is amplified in a subset of human breast cancers.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 291, doi. 10.1038/81583

By:

Jacobs, Jacqueline J.L.;
Keblusek, Petra;
Robanus-Maandag, Els;
Kristel, Petra;
Lingbeek, Merel;
Nederlof, Petra M.;
van Welsem, Tibor;
van de Vijver, Marc J.;
Koh, Eugene Y.;
Daley, George Q.;
van Lohuizen, Maarten

Publication type:

Article

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 319, doi. 10.1038/81619

By:

Bech-Hansen, N.Torben;
Naylor, Margaret J.;
Maybaum, Tracy A.;
Sparkes, Rebecca L.;
Koop, Ben;
Birch, David G.;
Bergen, Arthur A.B.;
Prinsen, Clemens F.M.;
Polomeno, Robert C.;
Gal, Andreas;
Drack, Arlene V.;
Musarella, Maria A.;
Jacobson, Samuel G.;
Young, Rockefeller S.L.;
Weleber, Richard G.

Publication type:

Article

Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 300, doi. 10.1038/81593

By:

Dragatsis, Ioannis;
Levine, Michael S.;
Zeitlin, Scott

Publication type:

Article

Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 307, doi. 10.1038/81603

By:

Vermeulen, Wim;
Bergmann, Etienne;
Auriol, Jérôme;
Rademakers, Suzanne;
Frit, Philippe;
Appeldoorn, Esther;
Hoeijmakers, Jan H.J.;
Egly, Jean-Marc

Publication type:

Article

Mining the human genome using microarrays of open reading frames.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 315, doi. 10.1038/81613

By:

Penn, Sharron G.;
Rank, David R.;
Hanzel, David K.;
Barker, David L.

Publication type:

Article

Mutant WD-repeat protein in triple-A syndrome.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 332, doi. 10.1038/81642

By:

Tullio-Pelet, Anna;
Salomon, Rémi;
Hadj-Rabia, Smaïl;
Mugnier, Claude;
de Laet, Marc-Henri;
Chaouachi, Beji;
Bakiri, Fawzi;
Brottier, Philippe;
Cattolico, Laurence;
Penet, Clothilde;
Bégeot, Martine;
Naville, Danielle;
Nicolino, Marc;
Chaussain, Jean-Louis;
Weissenbach, Jean;
Munnich, Arnold;
Lyonnet, Stanislas

Publication type:

Article

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 324, doi. 10.1038/81627

By:

Pusch, Carsten M.;
Zeitz, Christina;
Brandau, Oliver;
Pesch, Katrin;
Achatz, Helene;
Feil, Silke;
Scharfe, Curt;
Maurer, Johannes;
Jacobi, Felix K.;
Pinckers, Alfred;
Andreasson, Sten;
Hardcastle, Alison;
Wissinger, Bernd;
Berger, Wolfgang;
Meindl, Alfons

Publication type:

Article

Arteriovenous malformations in mice lacking activin receptor-like kinase-1.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 328, doi. 10.1038/81634

By:

Urness, Lisa D.;
Sorensen, Lise K.;
Li, Dean Y.

Publication type:

Article

Impaired insulin secretion and β-cell loss in tissue-specific knockout mice with mitochondrial diabetes.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 336, doi. 10.1038/81649

By:

Silva, José P.;
Köhler, Martin;
Graff, Caroline;
Oldfors, Anders;
Magnuson, Mark A.;
Berggren, Per-Olof;
Larsson, Nils-Göran

Publication type:

Article

The human Rhesus-associated RhAG protein and a kidney homologue promote ammonium transport in yeast.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 341, doi. 10.1038/81656

By:

Marini, Anne-Marie;
Matassi, Giorgio;
Raynal, Virginie;
André, Bruno;
Cartron, Jean-Pierre;
Chérif-Zahar, Baya

Publication type:

Article

Y chromosome sequence variation and the history of human populations.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 358, doi. 10.1038/81685

By:

Underhill, Peter A.;
Shen, Peidong;
Lin, Alice A.;
Jin, Li;
Passarino, Giuseppe;
Yang, Wei H.;
Kauffman, Erin;
Bonné-Tamir, Batsheva;
Bertranpetit, Jaume;
Francalacci, Paolo;
Ibrahim, Muntaser;
Jenkins, Trefor;
Kidd, Judith R.;
Mehdi, S. Qasim;
Seielstad, Mark T.;
Wells, R. Spencer;
Piazza, Alberto;
Davis, Ronald W.;
Feldman, Marcus W.

Publication type:

Article

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 345, doi. 10.1038/81664

By:

White, Kenneth E.;
Evans, Wayne E.;
O'Riordan, Jeffery L.H.;
Speer, Marcy C.;
Econs, Michael J.;
Lorenz-Depiereux, Bettina;
Grabowski, Monika;
Meitinger, Thomas;
Strom, Tim M.

Publication type:

Article

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22?23.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 354, doi. 10.1038/81677

By:

Gharavi, Ali G.;
Yan, Yan;
Scolari, Francesco;
Schena, F. Paolo;
Frasca, Giovanni M.;
Ghiggeri, Gian Marco;
Cooper, Kerry;
Amoroso, Antonio;
Viola, Battista Fabio;
Battini, Graziana;
Caridi, Gianluca;
Canova, Cristina;
Farhi, Anita;
Subramanian, Vairavan;
Nelson-Williams, Carol;
Woodford, Sue;
Julian, Bruce A.;
Wyatt, Robert J.;
Lifton, Richard P.

Publication type:

Article

Histone deacetylase interacts directly with DNA topoisomerase II.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 349, doi. 10.1038/81671

By:

Tsai, Shih-Chang;
Valkov, Nikola;
Yang, Wen-Ming;
Gump, Jana;
Sullivan, Daniel;
Seto, Edward

Publication type:

Article

A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 362, doi. 10.1038/81691

By:

Healey, Catherine S.;
Dunning, Alison M.;
Dawn Teare, M.;
Chase, Diana;
Parker, Louise;
Burn, John;
Chang-Claude, Jenny;
Mannermaa, Arto;
Kataja, Vesa;
Huntsman, David G.;
Pharoah, Paul D.P.;
Luben, Robert N.;
Easton, Douglas F.;
Ponder, Bruce A.J.

Publication type:

Article

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 365, doi. 10.1038/81695

By:

Bamford, Richard N.;
Roessler, Erich;
Burdine, Rebecca D.;
Şaplakoğlu, Umay;
dela Cruz, June;
Splitt, Miranda;
Towbin, Jeffrey;
Bowers, Peter;
Marino, Bruno;
Schier, Alexander F.;
Shen, Michael M.;
Muenke, Maximilian;
Casey, Brett

Publication type:

Article

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 370, doi. 10.1038/81701

By:

Bomont, Pascale;
Cavalier, Laurent;
Blondeau, François;
Hamida, Christiane Ben;
Belal, Samir;
Tazir, Meriem;
Demir, Ercan;
Topaloglu, Haluk;
Korinthenberg, Rudolf;
Tüysüz, Beyhan;
Landrieu, Pierre;
Hentati, Fayçal;
Koenig, Michel

Publication type:

Article

Proliferating cell nuclear antigen and Msh2p-Msh6p interact to form an active mispair recognition complex.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 375, doi. 10.1038/81708

By:

Flores-Rozas, Hernan;
Clark, Delbert;
Kolodner, Richard D.

Publication type:

Article

Hypoglycaemia, liver necrosis and perinatal death in mice lacking all isoforms of phosphoinositide 3-kinase p85α.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 379, doi. 10.1038/81715

By:

Fruman, David A.;
Mauvais-Jarvis, Franck;
Pollard, Daniel A.;
Yballe, Claudine M.;
Brazil, Derek;
Bronson, Roderick T.;
Kahn, C. Ronald;
Cantley, Lewis C.

Publication type:

Article

Corrections/Erratum.

Published in:: 2000
Publication type:: Erratum

Works matching IS 10614036 AND DT 2000 AND VI 26 AND IP 3

Normal telomere lengths found in cloned cattle.

TOUCHINGbase.

When more is better.

Dominant isolated renal magnesium loss is caused by misrouting of the Na<sup>+</sup>,K<sup>+</sup>-ATPase γ-subunit.

Mater, a maternal effect gene required for early embryonic development in mice.

Testing times.

The past within us.

Of giant axons and curly hair.

Viva la revolution! A report from the FANTOM Meeting.

A new face of the Rhesus antigen.

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

Behaviour and the standardization fallacy.

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease.

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy.

Genes and addiction.

Analysis of yeast protein kinases using protein chips.

Senescence bypass screen identifies TBX2, which represses Cdkn2a (p19<sup>ARF</sup>) and is amplified in a subset of human breast cancers.

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice.

Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder.

Mining the human genome using microarrays of open reading frames.

Mutant WD-repeat protein in triple-A syndrome.

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.

Arteriovenous malformations in mice lacking activin receptor-like kinase-1.

Impaired insulin secretion and β-cell loss in tissue-specific knockout mice with mitochondrial diabetes.

The human Rhesus-associated RhAG protein and a kidney homologue promote ammonium transport in yeast.

Y chromosome sequence variation and the history of human populations.

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22?23.

Histone deacetylase interacts directly with DNA topoisomerase II.

A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability.

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Proliferating cell nuclear antigen and Msh2p-Msh6p interact to form an active mispair recognition complex.

Hypoglycaemia, liver necrosis and perinatal death in mice lacking all isoforms of phosphoinositide 3-kinase p85α.

Corrections/Erratum.