Works matching IS 10614036 AND DT 2000 AND VI 26 AND IP 1

Results: 36

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.

Published in:: Nature Genetics, 2000, v. 26, n. 1, p. 103, doi. 10.1038/79063
Publication type:: Article

Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein.

Published in:: 2000
Publication type:: Erratum

The humane genome project.

Published in:

2000

By:

Carr, Geoffrey

Publication type:

Book Review

Private matters, public affairs.

Published in:: Nature Genetics, 2000, v. 26, n. 1, p. 1, doi. 10.1038/79061
Publication type:: Article

Failure of adipocyte differentiation causes type II diabetes mellitus?

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 13, doi. 10.1038/79111

By:

Danforth, Elliot

Publication type:

Article

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 106, doi. 10.1038/79069

By:

Kelley, Michael J.;
Jawien, William;
Ortel, Thomas L.;
Korczak, Jeannette F.

Publication type:

Article

Sampling SNPs.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 13, doi. 10.1038/79113

By:

Yang, Zhiyong;
Ka-Shu Wong, Gane;
Eberle, Michael A.;
Kibukawa, Miho;
Passey, Douglas A.;
Hughes, William R.;
Kruglyak, Leonid;
Yu, Jun

Publication type:

Article

Of microarrays and meandering data points.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 4, doi. 10.1038/79159

By:

Gullans, Steven R

Publication type:

Article

Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 109, doi. 10.1038/79075

By:

Reilly, Karlyne M.;
Loisel, Dagan A.;
Bronson, Roderick T.;
McLaughlin, Margaret E.;
Jacks, Tyler

Publication type:

Article

Touchingbase.

Published in:: Nature Genetics, 2000, v. 26, n. 1, p. 11
Publication type:: Article

Telomerase-deficient mice with short telomeres are resistant to skin tumorigenesis.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 114, doi. 10.1038/79089

By:

González-Suárez, Eva;
Samper, Enrique;
Flores, Juana M.;
Blasco, María A.

Publication type:

Article

Identification of the gene causing mucolipidosis type IV.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 118, doi. 10.1038/79095

By:

Bargal, Ruth;
Avidan, Nili;
Ben-Asher, Edna;
Olender, Zvia;
Zeigler, Marcia;
Frumkin, Ayala;
Raas-Rothschild, Annick;
Glusman, Gustavo;
Lancet, Doron;
Bach, Gideon

Publication type:

Article

Pidd, a new death-domain?containing protein, is induced by p53 and promotes apoptosis.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 122, doi. 10.1038/79102

By:

Lin, Yunping;
Ma, Weili;
Benchimol, Samuel

Publication type:

Article

A putative pheromone receptor gene expressed in human olfactory mucosa.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 18, doi. 10.1038/79124

By:

Rodriguez, Ivan;
Greer, Charles A.;
Mok, Mai Y.;
Mombaerts, Peter

Publication type:

Article

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 19, doi. 10.1038/79128

By:

Kinoshita, Akira;
Saito, Takashi;
Tomita, Hiro-aki;
Makita, Yoshio;
Yoshida, Kunihiro;
Ghadami, Mohsen;
Yamada, Koki;
Kondo, Shinji;
Ikegawa, Shiro;
Nishimura, Gen;
Fukushima, Yoshimitsu;
Nakagomi, Tadashi;
Saito, Haruki;
Sugimoto, Takeo;
Kamegaya, Makoto;
Hisa, Kenji;
Murray, Jeffrey C.;
Taniguchi, Naoyuki;
Niikawa, Norio

Publication type:

Article

A transactivation-deficient mouse model provides insights into Trp53 regulation and function.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 37, doi. 10.1038/79152

By:

Jimenez, Gretchen S.;
Nister, Monica;
Stommel, Jayne M.;
Beeche, Michelle;
Barcarse, Erin A.;
Zhang, Xiao-Qun;
O'Gorman, Stephen;
Wahl, Geoffrey M.

Publication type:

Article

Mutations in MKKS cause Bardet-Biedl syndrome.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 15, doi. 10.1038/79116

By:

Slavotinek, Anne M.;
Stone, Edwin M.;
Mykytyn, Kirk;
Heckenlively, John R.;
Green, Jane S.;
Heon, Elise;
Musarella, Maria A.;
Parfrey, Patrick S.;
Sheffield, Val C.;
Biesecker, Leslie G.

Publication type:

Article

Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 16, doi. 10.1038/79120

By:

Grady, William M.;
Willis, Joseph;
Guilford, Parry J.;
Dunbier, Anita K.;
Toro, Tumi T.;
Lynch, Henry;
Wiesner, Georgia;
Ferguson, Kelly;
Eng, Charis;
Park, Jae-Gahb;
Kim, Seong-Jin;
Markowitz, Sanford

Publication type:

Article

Circadian rhythm genetics: from flies to mice to humans.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 23, doi. 10.1038/79134

By:

Wager-Smith, Karen;
Kay, Steve A.

Publication type:

Article

Pulling apart pulmonary hypertension.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 3, doi. 10.1038/79148

By:

Scott, James

Publication type:

Article

In vivo selection using a cell-growth switch.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 64, doi. 10.1038/79194

By:

Jin, Liqing;
Zeng, Hui;
Chien, Sylvia;
Otto, Kevin G.;
Richard, Robert E.;
Emery, David W.;
Anthony Blau, C.

Publication type:

Article

Expanded polyglutamine stretches interact with TAF<sub>II</sub>130, interfering with CREB-dependent transcription.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 29, doi. 10.1038/79139

By:

Shimohata, Takayoshi;
Nakajima, Toshihiro;
Yamada, Mitsunori;
Uchida, Chiharu;
Onodera, Osamu;
Naruse, Satoshi;
Kimura, Tetsuya;
Koide, Reiji;
Nozaki, Kenkichi;
Sano, Yasuteru;
Ishiguro, Hiroshi;
Sakoe, Kumi;
Ooshima, Takayuki;
Sato, Aki;
Ikeuchi, Takeshi;
Oyake, Mutsuo;
Sato, Toshiya;
Aoyagi, Yasuyuki;
Hozumi, Isao

Publication type:

Article

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 67, doi. 10.1038/79201

By:

Katsanis, Nicholas;
Beales, Philip L.;
Woods, Michael O.;
Lewis, Richard A.;
Green, Jane S.;
Parfrey, Patrick S.;
Ansley, Stephen J.;
Davidson, William S.;
Lupski, James R.

Publication type:

Article

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 71, doi. 10.1038/79208

By:

Smith, Annabel N.;
Skaug, Jennifer;
Choate, Keith A.;
Nayir, Ahmet;
Bakkaloglu, Aysin;
Ozen, Seza;
Hulton, Sally A.;
Sanjad, Sami A.;
Al-Sabban, Essam A.;
Lifton, Richard P.;
Scherer, Stephen W.;
Karet, Fiona E.

Publication type:

Article

Telomere dysfunction impairs DNA repair and enhances sensitivity to ionizing radiation.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 85, doi. 10.1038/79232

By:

Wong, Kwok-Kin;
Chang, Sandy;
Weiler, Sarah R.;
Ganesan, Shridar;
Chaudhuri, Jayanta;
Zhu, Chengming;
Artandi, Steven E.;
Rudolph, Karl Lenhard;
Gottlieb, Geoffrey J.;
Chin, Lynda;
Alt, Frederick W.;
DePinho, Ronald A.

Publication type:

Article

Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 44, doi. 10.1038/79162

By:

Huynh, Duong P.;
Figueroa, Karla;
Hoang, Nam;
Pulst, Stefan-M.

Publication type:

Article

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 51, doi. 10.1038/79171

By:

Verpy, Elisabeth;
Leibovici, Michel;
Zwaenepoel, Ingrid;
Liu, Xue-Zhong;
Gal, Andreas;
Salem, Nabiha;
Mansour, Ahmad;
Blanchard, Stéphane;
Kobayashi, Ichiro;
Keats, Bronya J.B.;
Slim, Rima;
Petit, Christine

Publication type:

Article

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 56, doi. 10.1038/79178

By:

Bitner-Glindzicz, Maria;
Lindley, Keith J.;
Rutland, Paul;
Blaydon, Diana;
Smith, Virpi V.;
Milla, Peter J.;
Hussain, Khalid;
Furth-Lavi, Judith;
Cosgrove, Karen E.;
Shepherd, Ruth M.;
Barnes, Philippa D.;
O'Brien, Rachel E.;
Farndon, Peter A.;
Sowden, Jane;
Liu, Xue-Zhong;
Scanlan, Matthew J.;
Malcolm, Sue;
Dunne, Mark J.;
Aynsley-Green, Albert

Publication type:

Article

A PDZ protein ushers in new links.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 6, doi. 10.1038/79186

By:

Montell, Craig

Publication type:

Article

Large-scale human promoter mapping using CpG islands.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 61, doi. 10.1038/79189

By:

Ioshikhes, Ilya P.;
Zhang, Michael Q.

Publication type:

Article

Inactivation of the mouse melanocortin-3 receptor results in increased fat mass and reduced lean body mass.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 97, doi. 10.1038/79254

By:

Chen, Airu S.;
Marsh, Donald J.;
Trumbauer, Myrna E.;
Frazier, Easter G.;
Guan, Xiao-Ming;
Yu, Hong;
Rosenblum, Charles I.;
Vongs, Aurawan;
Feng, Yue;
Cao, Linhai;
Metzger, Joseph M.;
Strack, Alison M.;
Camacho, Ramon E.;
Mellin, Theodore N.;
Nunes, Christian N.;
Min, William;
Fisher, Jill;
Gopal-Truter, Shobhna;
MacIntyre, D. Euan

Publication type:

Article

The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 76, doi. 10.1038/79216

By:

Altshuler, David;
Hirschhorn, Joel N.;
Klannemark, Mia;
Lindgren, Cecilia M.;
Vohl, Marie-Claude;
Nemesh, James;
Lane, Charles R.;
Schaffner, Stephen F.;
Bolk, Stacey;
Brewer, Carl;
Tuomi, Tiinamaija;
Gaudet, Daniel;
Hudson, Thomas J.;
Daly, Mark;
Groop, Leif;
Lander, Eric S.

Publication type:

Article

Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 81, doi. 10.1038/79226

By:

Lane, Kirk B.;
Machado, Rajiv D.;
Pauciulo, Michael W.;
Thomson, Jennifer R.;
Phillips III, John A.;
Loyd, James E.;
Nichols, William C.;
Trembath, Richard C.

Publication type:

Article

Melanocortins and body weight: a tale of two receptors.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 8, doi. 10.1038/79223

By:

Cummings, David E;
Schwartz, Michael W.

Publication type:

Article

Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 89, doi. 10.1038/79238

By:

Kirschner, Lawrence S.;
Carney, J. Aidan;
Pack, Svetlana D.;
Taymans, Susan E.;
Giatzakis, Christoforos;
Cho, Yee Sook;
Cho-Chung, Yoon S.;
Stratakis, Constantine A.

Publication type:

Article

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 93, doi. 10.1038/79246

By:

Hong, Susan E.;
Shugart, Yin Yao;
Huang, David T.;
Shahwan, Saad Al;
Grant, P. Ellen;
Hourihane, Jonathan O'B.;
Martin, Neil D.T.;
Walsh, Christopher A.

Publication type:

Article