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In vivo misregulation of genes involved in apoptosis, development and oxidative stress in mice lacking both functional Werner syndrome protein and poly(ADP-ribose) polymerase-1.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3293
By:
- Deschênes, François;
- Massip, Laurent;
- Garand, Chantal;
- Lebel, Michel
Publication type:
Article
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3281, doi. 10.1093/hmg/ddi361
By:
- Rademakers, Rosa;
- Melquist, Stacey;
- Cruts, Marc;
- Theuns, Jessie;
- Del-Favero, Jurgen;
- Poorkaj, Parvoneh;
- Baker, Matt;
- Sleegers, Kristel;
- Crook, Richard;
- De Pooter, Tim;
- Kacem, Samira Bel;
- Adamson, Jennifer;
- Van den Bossche, Dirk;
- Van den Broeck, Marleen;
- Gass, Jennifer;
- Corsmit, Ellen;
- De Rijk, Peter;
- Thomas, Natalie;
- Engelborghs, Sebastiaan;
- Heckman, Michael
Publication type:
Article
Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3271, doi. 10.1093/hmg/ddi360
By:
- Vu, Dung;
- Di Sanza, Corinne;
- Caille, Dorothée;
- de Moerloose, Philippe;
- Scheib, Holger;
- Meda, Paolo;
- Neerman-Arbez, Marguerite
Publication type:
Article
Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3263, doi. 10.1093/hmg/ddi359
By:
- Brière, Jean-Jacques;
- Favier, Judith;
- Bénit, Paule;
- Ghouzzi, Vincent El;
- Lorenzato, Annalisa;
- Rabier, Daniel;
- Di Renzo, Maria Flavia;
- Gimenez-Roqueplo, Anne-Paule;
- Rustin, Pierre
Publication type:
Article
Distribution of the strength of selection against amino acid replacements in human proteins.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3191, doi. 10.1093/hmg/ddi350
By:
- Yampolsky, Lev Y.;
- Kondrashov, Fyodor A.;
- Kondrashov, Alexey S.
Publication type:
Article
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3169, doi. 10.1093/hmg/ddi344
By:
- Pecci, Alessandro;
- Canobbio, Ilaria;
- Balduini, Alessandra;
- Stefanini, Lucia;
- Cisterna, Barbara;
- Marseglia, Carmela;
- Noris, Patrizia;
- Savoia, Anna;
- Balduini, Carlo L.;
- Torti, Mauro
Publication type:
Article
Recruitment of katanin p60 by phosphorylated NDEL1, an LIS1 interacting protein, is essential for mitotic cell division and neuronal migration.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3113, doi. 10.1093/hmg/ddi339
By:
- Toyo-Oka, Kazuhito;
- Sasaki, Shinji;
- Yano, Yoshihisa;
- Mori, Daisuke;
- Kobayashi, Takuya;
- Toyoshima, Yoko Y.;
- Tokuoka, Suzumi M.;
- Ishii, Satoshi;
- Shimizu, Takao;
- Muramatsu, Masami;
- Hiraiwa, Noriko;
- Yoshiki, Atsushi;
- Wynshaw-Boris, Anthony;
- Hirotsune, Shinji
Publication type:
Article
No widespread induction of cell death genes occurs in pure motoneurons in an amyotrophic lateral sclerosis mouse model.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3309, doi. 10.1093/hmg/ddi357
By:
- Perrin, Florence E.;
- Boisset, Gaelle;
- Docquier, Mylene;
- Schaad, Olivier;
- Descombes, Patrick;
- Kato, Ann C.
Publication type:
Article
ZNF217 suppresses cell death associated with chemotherapy and telomere dysfunction.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3219, doi. 10.1093/hmg/ddi352
By:
- Huang, Guiqing;
- Krig, Sheryl;
- Kowbel, David;
- Xu, Hongmei;
- Hyun, Bill;
- Volik, Stas;
- Feuerstein, Burt;
- Mills, Gordon B.;
- Stokoe, David;
- Yaswen, Paul;
- Collins, Colin
Publication type:
Article
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3203, doi. 10.1093/hmg/ddi351
By:
- Sardiello, M.;
- Annunziata, I.;
- Roma, G.;
- Ballabio, A.
Publication type:
Article
A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3249, doi. 10.1093/hmg/ddi356
By:
- Hackmann, Karl;
- Markoff, Arseni;
- Qian, Feng;
- Bogdanova, Nadia;
- Germino, Gregory G.;
- Pennekamp, Petra;
- Dworniczak, Bernd;
- Horst, Jürgen;
- Gerke, Volker
Publication type:
Article
Ribonucleoprotein particle formation is necessary but not sufficient for LINE-1 retrotransposition.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3237, doi. 10.1093/hmg/ddi354
By:
- Kulpa, Deanna A.;
- Moran, John V.
Publication type:
Article
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3227, doi. 10.1093/hmg/ddi353
By:
- Rivera, Andrea;
- Fisher, Sheila A.;
- Fritsche, Lars G.;
- Keilhauer, Claudia N.;
- Lichtner, Peter;
- Meitinger, Thomas;
- Weber, Bernhard H.F.
Publication type:
Article
Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3179, doi. 10.1093/hmg/ddi349
By:
- Maddatu, Terry P.;
- Garvey, Sean M.;
- Schroeder, David G.;
- Zhang, Wiedong;
- Kim, Soh-Yule;
- Nicholson, Anthony I.;
- Davis, Crystal J.;
- Cox, Gregory A.
Publication type:
Article
Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3161, doi. 10.1093/hmg/ddi348
By:
- Van Agtmael, Tom;
- Schlötzer-Schrehardt, Ursula;
- McKie, Lisa;
- Brownstein, David G.;
- Lee, Angela W.;
- Cross, Sally H.;
- Sado, Yoshikazu;
- Mullins, John J.;
- Pöschl, Ernst;
- Jackson, Ian J.
Publication type:
Article
Cellular differentiation hierarchies in normal and culture-adapted human embryonic stem cells.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3129, doi. 10.1093/hmg/ddi345
By:
- Enver, Tariq;
- Soneji, Shamit;
- Joshi, Chirag;
- Brown, John;
- Iborra, Francisco;
- Orntoft, Torben;
- Thykjaer, Thomas;
- Maltby, Edna;
- Smith, Kath;
- Dawud, Raed Abu;
- Jones, Mark;
- Matin, Maryam;
- Gokhale, Paul;
- Draper, Jonathan;
- Andrews, Peter W.
Publication type:
Article
Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis and other allergic phenotypes.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3149, doi. 10.1093/hmg/ddi347
By:
- Takahashi, Naomi;
- Akahoshi, Mitsuteru;
- Matsuda, Akira;
- Ebe, Kouji;
- Inomata, Naoko;
- Obara, Kazuhiko;
- Hirota, Tomomitsu;
- Nakashima, Kazuko;
- Shimizu, Makiko;
- Tamari, Mayumi;
- Doi, Satoru;
- Miyatake, Akihiko;
- Enomoto, Tadao;
- Nakashima, Hitoshi;
- Ikezawa, Zenro;
- Shirakawa, Taro
Publication type:
Article
Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 21, p. 3141, doi. 10.1093/hmg/ddi346
By:
- Parsons, Claire A.;
- Mroczkowski, H. Joel;
- McGuigan, Fiona E.A.;
- Albagha, Omar M.E.;
- Manolagas, Stavros;
- Reid, David M.;
- Ralston, Stuart H.;
- Reis, Robert J. Shmookler
Publication type:
Article

Found: 18