Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 23

Results: 13

Iron–sulfur protein maturation in human cells: evidence for a function of frataxin.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 3007, doi. 10.1093/hmg/ddh324

By:

Stehling, Oliver;
Elsässer, Hans-Peter;
Brückel, Bernd;
Mühlenhoff, Ulrich;
Lill, Roland

Publication type:

Article

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 2997, doi. 10.1093/hmg/ddh323

By:

Pujol, Aurora;
Ferrer, Isidre;
Camps, Carme;
Metzger, Elisabeth;
Hindelang, Colette;
Callizot, Noëlle;
Ruiz, Montse;
Pàmpols, Teresa;
Giròs, Marisa;
Mandel, Jean Louis

Publication type:

Article

Case–control study and transmission disequilibrium test provide consistent evidence for association between schizophrenia and genetic variation in the 22q11 gene ZDHHC8.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 2991, doi. 10.1093/hmg/ddh322

By:

Chen, Wu-Yan;
Shi, Yong-Yong;
Zheng, Yong-Lan;
Zhao, Xin-Zhi;
Zhang, Guang-Ji;
Chen, Sheng-Qi;
Yang, Pei-Di;
He, Lin

Publication type:

Article

Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 3017, doi. 10.1093/hmg/ddh321

By:

Luiro, Kaisu;
Yliannala, Kristiina;
Ahtiainen, Laura;
Maunu, Heidi;
Järvelä, Irma;
Kyttälä, Aija;
Jalanko, Anu

Publication type:

Article

A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 2947, doi. 10.1093/hmg/ddh320

By:

Cossins, Judy;
Webster, Richard;
Maxwell, Susan;
Burke, Georgina;
Vincent, Angela;
Beeson, David

Publication type:

Article

The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 2919, doi. 10.1093/hmg/ddh319

By:

Marrosu, Maria Giovanna;
Motzo, Costantino;
Murru, Raffaele;
Lampis, Rosanna;
Costa, Gianna;
Zavattari, Patrizia;
Contu, Daniela;
Fadda, Elisabetta;
Cocco, Eleonora;
Cucca, Francesco

Publication type:

Article

CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 2907, doi. 10.1093/hmg/ddh318

By:

Hitomi, Yuki;
Tsuchiya, Naoyuki;
Kawasaki, Aya;
Ohashi, Jun;
Suzuki, Takeshi;
Kyogoku, Chieko;
Fukazawa, Toru;
Bejrachandra, Sasitorn;
Siriboonrit, Usanee;
Chandanayingyong, Dasnayanee;
Suthipinittharm, Puan;
Tsao, Betty P.;
Hashimoto, Hiroshi;
Honda, Zen-ichiro;
Tokunaga, Katsushi

Publication type:

Article

Genome-wide demethylation destabilizes CTG·CAG trinucleotide repeats in mammalian cells.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 2979, doi. 10.1093/hmg/ddh317

By:

Gorbunova, Vera;
Seluanov, Andrei;
Mittelman, David;
Wilson, John H.

Publication type:

Article

ATM is required for the cellular response to thymidine induced replication fork stress.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 2937, doi. 10.1093/hmg/ddh316

By:

Bolderson, Emma;
Scorah, Jennifer;
Helleday, Thomas;
Smythe, Carl;
Meuth, Mark

Publication type:

Article

Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC-1AS and identification of ENC-1 overexpression in hairy cell leukemia.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 2925, doi. 10.1093/hmg/ddh315

By:

Hammarsund, Marianne;
Lerner, Mikael;
Zhu, Chaoyong;
Merup, Mats;
Jansson, Monika;
Gahrton, Gösta;
Kluin-Nelemans, Hanneke;
Einhorn, Stefan;
Grandér, Dan;
Sangfelt, Olle;
Corcoran, Martin

Publication type:

Article

Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic status.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 2959, doi. 10.1093/hmg/ddh313

By:

Hirota, Takeshi;
Ieiri, Ichiro;
Takane, Hiroshi;
Maegawa, Shinji;
Hosokawa, Masakiyo;
Kobayashi, Kaoru;
Chiba, Kan;
Nanba, Eiji;
Oshimura, Mitsuo;
Sato, Tetsuo;
Higuchi, Shun;
Otsubo, Kenji

Publication type:

Article

Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 2971, doi. 10.1093/hmg/ddh314

By:

Chamberlain, Stormy J.;
Johnstone, Karen A.;
DuBose, Amanda J.;
Simon, Thomas A.;
Bartolomei, Marisa S.;
Resnick, James L.;
Brannan, Camilynn I.

Publication type:

Article

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 23, p. 2893, doi. 10.1093/hmg/ddh312

By:

Kopra, Outi;
Vesa, Jouni;
von Schantz, Carina;
Manninen, Tuula;
Minye, Helena;
Fabritius, Anna-Liisa;
Rapola, Juhani;
Diggelen, Otto P. van;
Saarela, Janna;
Jalanko, Anu;
Peltonen, Leena

Publication type:

Article