Works in Human Molecular Genetics, 2006, Vol 15, Issue 17

Results: 10

Pathogenetic role of the deafness-related M34T mutation of Cx26.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2569, doi. 10.1093/hmg/ddl184

By:

Bicego, Massimiliano;
Beltramello, Martina;
Melchionda, Salvatore;
Carella, Massimo;
Piazza, Valeria;
Zelante, Leopoldo;
Bukauskas, Feliksas F.;
Arslan, Edoardo;
Cama, Elona;
Pantano, Sergio;
Bruzzone, Roberto;
D'Andrea, Paola;
Mammano, Fabio

Publication type:

Article

Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2650, doi. 10.1093/hmg/ddl193

By:

Verdu, Paul;
Barreiro, Luis B.;
Patin, Etienne;
Gessain, Antoine;
Cassar, Olivier;
Kidd, Judith R.;
Kidd, Kenneth K.;
Behar, Doron M.;
Froment, Alain;
Heyer, Evelyne;
Sica, Lucas;
Casanova, Jean-Laurent;
Abel, Laurent;
Quintana-Murci, Lluís

Publication type:

Article

Allelic mRNA expression of X-linked monoamine oxidase a (MAOA) in human brain: dissection of epigenetic and genetic factors.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2636, doi. 10.1093/hmg/ddl192

By:

Pinsonneault, Julia K.;
Papp, Audrey C.;
Sadée, Wolfgang

Publication type:

Article

Abnormal CpG island methylation occurs during in vitro differentiation of human embryonic stem cells.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2623, doi. 10.1093/hmg/ddl188

By:

Shen, Yin;
Chow, Janet;
Wang, Zunde;
Fan, Guoping

Publication type:

Article

Cooperative sequence modules determine replication initiation sites at the human β-globin locus.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2613, doi. 10.1093/hmg/ddl187

By:

Wang, Lixin;
Lin, Chii Mei;
Lopreiato, Joseph O.;
Aladjem, Mirit I.

Publication type:

Article

Skeletal muscle repair in a mouse model of nemaline myopathy.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2603, doi. 10.1093/hmg/ddl186

By:

Sanoudou, Despina;
Corbett, Mark A.;
Han, Mei;
Ghoddusi, Majid;
Nguyen, Mai-Anh T.;
Vlahovich, Nicole;
Hardeman, Edna C.;
Beggs, Alan H.

Publication type:

Article

In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2588, doi. 10.1093/hmg/ddl185

By:

Cheng, Hong;
Aleman, Tomas S.;
Cideciyan, Artur V.;
Khanna, Ritu;
Jacobson, Samuel G.;
Swaroop, Anand

Publication type:

Article

DAPK1 variants are associated with Alzheimer's disease and allele-specific expression.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2560, doi. 10.1093/hmg/ddl178

By:

Li, Yonghong;
Grupe, Andrew;
Rowland, Charles;
Nowotny, Petra;
Kauwe, John S.K.;
Smemo, Scott;
Hinrichs, Anthony;
Tacey, Kristina;
Toombs, Timothy A.;
Kwok, Shirley;
Catanese, Joseph;
White, Thomas J.;
Maxwell, Taylor J.;
Hollingworth, Paul;
Abraham, Richard;
Rubinsztein, David C.;
Brayne, Carol;
Wavrant-De Vrièze, Fabienne;
Hardy, John;
O'Donovan, Michael

Publication type:

Article

The ERK1/2 pathway modulates nuclear PTEN-mediated cell cycle arrest by cyclin D1 transcriptional regulation.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2553, doi. 10.1093/hmg/ddl177

By:

Chung, Ji-Hyun;
Ostrowski, Michael C.;
Romigh, Todd;
Minaguchi, Takeo;
Waite, Kristin A.;
Eng, Charis

Publication type:

Article

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2543, doi. 10.1093/hmg/ddl176

By:

Kervinen, Marko;
Hinttala, Reetta;
Helander, Heli M.;
Kurki, Sari;
Uusimaa, Johanna;
Finel, Moshe;
Majamaa, Kari;
Hassinen, Ilmo E.

Publication type:

Article