Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 26

Results: 15

The Leri–Weill and Turnersyndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 3083, doi. 10.1093/hmg/10.26.3083

By:

Rao, Ercole;
Blaschke, RüdigerJ.;
Marchini, Antonio;
Niesler, Beate;
Burnett, Michael;
Rappold, GudrunA.

Publication type:

Article

Manipulating mitochondrial DNAheteroplasmy by a mitochondrially targeted restriction endonuclease.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 3093, doi. 10.1093/hmg/10.26.3093

By:

Srivastava, Sarika;
Moraes, Carlos T.

Publication type:

Article

Ectodysplasin-A1 is sufficient to rescue both hair growthand sweat glands in Tabby mice.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 2973, doi. 10.1093/hmg/10.26.2973

By:

Srivastava, Anand K.;
Durmowicz, MeredithC.;
Hartung, AndrewJ.;
Hudson, Joan;
Ouzts, Lizbeth V.;
Donovan, DavidM.;
Cui, Chang-Yi;
Schlessinger, David

Publication type:

Article

Genome-wide scan in a nationwidestudy sample of schizophrenia families in Finland reveals susceptibility locion chromosomes 2q and 5q.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 3037, doi. 10.1093/hmg/10.26.3037

By:

Paunio, Tiina;
Ekelund, Jesper;
Varilo, Teppo;
Parker, Alex;
Hovatta, Iiris;
Turunen, Joni A.;
Rinard, Kate;
Foti, Alessandro;
Terwilliger, Joseph D.;
Juvonen, Hannu;
Suvisaari, Jaana;
Arajärvi, Ritva;
Suokas, Jaana;
Partonen, Timo;
Lönnqvist, Jouko;
Meyer, Joanne;
Peltonen, Leena

Publication type:

Article

Cytochrome c oxidasedeficiency due to mutations in SCO2, encoding amitochondrial copper-binding protein, is rescued by copper in humanmyoblasts.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 3025, doi. 10.1093/hmg/10.26.3025

By:

Jaksch, Michaela;
Paret, Claudia;
Stucka, Rolf;
Horn, Nina;
Müller-Höcker, Josef;
Horvath, Rita;
Trepesch, Nadine;
Stecker, Gerhard;
Freisinger, Peter;
Thirion, Christian;
Müller, Juliane;
Lunkwitz, Renate;
Rödel, Gerhard;
Shoubridge, Eric A.;
Lochmüller, Hanns

Publication type:

Article

Tumor development in the Beckwith–Wiedemann syndromeis associated with a variety of constitutional molecular 11p15 alterationsincluding imprinting defects of KCNQ1OT1.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 2989, doi. 10.1093/hmg/10.26.2989

By:

Weksberg, Rosanna;
Nishikawa, Joy;
Caluseriu, Oana;
Fei, Yan-Ling;
Shuman, Cheryl;
Wei, Cuihong;
Steele, Leslie;
Cameron, Jessie;
Smith, Adam;
Ambus, Ingrid;
Li, Madeline;
Ray, Peter N.;
Sadowski, Paul;
Squire, Jeremy

Publication type:

Article

The Caenorhabditiselegans homolog of FGD1, the human Cdc42 GEF gene responsiblefor faciogenital dysplasia, is critical for excretory cell morphogenesis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 3049, doi. 10.1093/hmg/10.26.3049

By:

Gao, Jingtong;
Estrada, Lourdes;
Cho, Soochin;
Ellis, Ronald E.;
Gorski, Jerome L.

Publication type:

Article

SALL1,the genemutated in Townes–Brocks syndrome, encodes a transcriptionalrepressor which interacts with TRF1/PIN2 and localizesto pericentromeric heterochromatin.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 3017, doi. 10.1093/hmg/10.26.3017

By:

Netzer, Christian;
Rieger, Leonie;
Brero, Alessandro;
Zhang, Chang-Dong;
Hinzke, Markus;
Kohlhase, Jürgen;
Bohlander, StefanK.

Publication type:

Article

Effect of allelic variation atthe NACP–Rep1 repeat upstream of the α-synucleingene (SNCA) on transcription in a cell cultureluciferase reporter system.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 3101, doi. 10.1093/hmg/10.26.3101

By:

Chiba-Falek, Ornit;
Nussbaum, RobertL.

Publication type:

Article

Glucocorticoid modulation ofandrogen receptor nuclear aggregation and cellular toxicity is associated withdistinct forms of soluble expanded polyglutamine protein.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 3063, doi. 10.1093/hmg/10.26.3063

By:

Welch, William J.;
Diamond, Marc I.

Publication type:

Article

Exchange of surface proteinsimpacts on viral vector cellular specificity and transduction characteristics: the retina as a model.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 3075, doi. 10.1093/hmg/10.26.3075

By:

Auricchio, Alberto;
Kobinger, Gary;
Anand, Vibha;
Hildinger, Markus;
Connor, ErinO’;
Maguire, Albert M.;
Wilson, JamesM.;
Bennett, Jean

Publication type:

Article

Heterozygosity for the neurofibromatosis1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreadingand motility in astrocytes.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 3009, doi. 10.1093/hmg/10.26.3009

By:

Gutmann, David H.;
Wu, YanLi;
Hedrick, Nicolé M.;
Zhu, Yuan;
Guha, Abhijit;
Parada, Luis F.

Publication type:

Article

DNA methylation patterns in hereditaryhuman cancers mimic sporadic tumorigenesis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 3001, doi. 10.1093/hmg/10.26.3001

By:

Esteller, Manel;
Fraga, MarioF.;
Guo, Mingzhou;
Garcia-Foncillas, Jesus;
Hedenfalk, Ingrid;
Godwin, AndrewK.;
Trojan, Joerg;
Vaurs-Barrière, Catherine;
Bignon, Yves-Jean;
Ramus, Susan;
Benitez, Javier;
Caldes, Trinidad;
Akiyama, Yoshimitsu;
Yuasa, Yusuhito;
Launonen, Virpi;
Canal, Maria Jesus;
Rodriguez, Roberto;
Capella, Gabriel;
Peinado, Miguel Angel;
Borg, Ake

Publication type:

Article

Genome-wide methylation patternsin normal and uniparental early mouse embryos.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 2983, doi. 10.1093/hmg/10.26.2983

By:

Barton, Sheila C.;
Arney, KatharineL.;
Shi, Wei;
Niveleau, Alain;
Fundele, Reinald;
Surani, M. Azim;
Haaf, Thomas

Publication type:

Article

Dissecting a population genome for targeted screening ofdisease mutations.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 2961, doi. 10.1093/hmg/10.26.2961

By:

Pastinen, Tomi;
Perola, Markus;
Ignatius, Jaakko;
Sabatti, Chiara;
Tainola, Päivi;
Levander, Minna;
Syvänen, Ann-Christine;
Peltonen, Leena

Publication type:

Article