Works in Human Molecular Genetics, 2009, Vol 18, Issue 16

Results: 22

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 3075

By:

Morín, Matías;
Bryan, Keith E.;
Mayo-Merino, Fernando;
Goodyear, Richard;
Mencía, Ángeles;
Modamio-Høybjør, Silvia;
del Castillo, Ignacio;
Cabalka, Jessica M.;
Richardson, Guy;
Moreno, Felipe;
Rubenstein, Peter A.;
Moreno-Pelayo, Miguel Ángel

Publication type:

Article

Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 3125, doi. 10.1093/hmg/ddp231

By:

Wang, Jen C.;
Cruchaga, Carlos;
Saccone, Nancy L.;
Bertelsen, Sarah;
Liu, Pengyuan;
Budde, John P.;
Duan, Weimin;
Fox, Louis;
Grucza, Richard A.;
Kern, Jason;
Mayo, Kevin;
Reyes, Oliver;
Rice, John;
Saccone, Scott F.;
Spiegel, Noah;
Steinbach, Joseph H.;
Stitzel, Jerry A.;
Anderson, Marshall W.;
You, Ming;
Stevens, Victoria L.

Publication type:

Article

Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 2943, doi. 10.1093/hmg/ddp232

By:

Shono, Akemi;
Tsukaguchi, Hiroyasu;
Kitamura, Akiko;
Hiramoto, Ryugo;
Qin, Xiao-Song;
Doi, Toshio;
Iijima, Kazumoto

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 16, p. NP, doi. 10.1093/hmg/ddp284
Publication type:: Article

Natural mutations of the anti-Müllerian hormone type II receptor found in persistent Müllerian duct syndrome affect ligand binding, signal transduction and cellular transport.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 3002, doi. 10.1093/hmg/ddp238

By:

Belville, Corinne;
Maréchal, Jean-Didier;
Pennetier, Sophie;
Carmillo, Paul;
Masgrau, Laura;
Messika-Zeitoun, Liza;
Galey, Julie;
Machado, Gabrielle;
Treton, Dominique;
Gonzalès, Jacques;
Picard, Jean-Yves;
Josso, Nathalie;
Cate, Richard L.;
di Clemente, Nathalie

Publication type:

Article

Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 3066, doi. 10.1093/hmg/ddp248

By:

Monk, David;
Arnaud, Philippe;
Frost, Jennifer;
Hills, Frank A.;
Stanier, Philip;
Feil, Robert;
Moore, Gudrun E.

Publication type:

Article

Diet-induced hepatocellular carcinoma in genetically predisposed mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 2975, doi. 10.1093/hmg/ddp236

By:

Hill-Baskin, Annie E.;
Markiewski, Maciej M.;
Buchner, David A.;
Shao, Haifeng;
DeSantis, David;
Hsiao, Gene;
Subramaniam, Shankar;
Berger, Nathan A.;
Croniger, Colleen;
Lambris, John D.;
Nadeau, Joseph H.

Publication type:

Article

The A2A adenosine receptor rescues the urea cycle deficiency of Huntington's disease by enhancing the activity of the ubiquitin–proteasome system.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 2929, doi. 10.1093/hmg/ddp230

By:

Chiang, Ming-Chang;
Chen, Hui-Mei;
Lai, Hsing-Lin;
Chen, Hsiao-Wen;
Chou, Szu-Yi;
Chen, Chiung-Mei;
Tsai, Fuu-Jen;
Chern, Yijuang

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 16, p. NP, doi. 10.1093/hmg/ddp285
Publication type:: Article

The transcription co-factor CITED2 functions during sex determination and early gonad development.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 2989, doi. 10.1093/hmg/ddp237

By:

Buaas, Frank William;
Val, Pierre;
Swain, Amanda

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 16, p. NP, doi. 10.1093/hmg/ddp287
Publication type:: Article

Epigenomic profiling indicates a role for DNA methylation in early postnatal liver development.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 3026, doi. 10.1093/hmg/ddp241

By:

Waterland, Robert A.;
Kellermayer, Richard;
Rached, Marie-Therese;
Tatevian, Nina;
Gomes, Marcus V.;
Zhang, Jiexin;
Zhang, Li;
Chakravarty, Abrita;
Zhu, Wei;
Laritsky, Eleonora;
Zhang, Wenjuan;
Wang, Xiaodan;
Shen, Lanlan

Publication type:

Article

Impaired PGC-1α function in muscle in Huntington's disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 3048, doi. 10.1093/hmg/ddp243

By:

Chaturvedi, Rajnish K.;
Adhihetty, Peter;
Shukla, Shubha;
Hennessy, Thomas;
Calingasan, Noel;
Yang, Lichuan;
Starkov, Anatoly;
Kiaei, Mahmoud;
Cannella, Milena;
Sassone, Jenny;
Ciammola, Andrea;
Squitieri, Fernando;
Beal, M. Flint

Publication type:

Article

Human ISD11 is essential for both iron–sulfur cluster assembly and maintenance of normal cellular iron homeostasis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 3014, doi. 10.1093/hmg/ddp239

By:

Shi, Yanbo;
Ghosh, Manik C.;
Tong, Wing-Hang;
Rouault, Tracey A.

Publication type:

Article

HnRNP U mediates the long-range regulation of Shh expression during limb development.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 3090, doi. 10.1093/hmg/ddp250

By:

Zhao, Jing;
Ding, Jun;
Li, Yingqian;
Ren, Kaiqun;
Sha, Jiahao;
Zhu, Minsheng;
Gao, Xiang

Publication type:

Article

Segregation of expression of mPeriod gene homologs in neurons and glia: possible divergent roles of mPeriod1 and mPeriod2 in the brain.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 3110, doi. 10.1093/hmg/ddp252

By:

Cheng, Hai-Ying M.;
Alvarez-Saavedra, Matias;
Dziema, Heather;
Choi, Yun Sik;
Li, Aiqing;
Obrietan, Karl

Publication type:

Article

A variant in the gene FUT9 is associated with susceptibility to placental malaria infection.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 3136, doi. 10.1093/hmg/ddp240

By:

Sikora, Martin;
Ferrer-Admetlla, Anna;
Laayouni, Hafid;
Menendez, Clara;
Mayor, Alfredo;
Bardaji, Azucena;
Sigauque, Betuel;
Mandomando, Inacio;
Alonso, Pedro L.;
Bertranpetit, Jaume;
Casals, Ferran

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 16, p. NP, doi. 10.1093/hmg/ddp286
Publication type:: Article

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 2963, doi. 10.1093/hmg/ddp235

By:

Williams, Siân E.;
Reed, Anita A.C.;
Galvanovskis, Juris;
Antignac, Corinne;
Goodship, Tim;
Karet, Fiona E.;
Kotanko, Peter;
Lhotta, Karl;
Morinière, Vincent;
Williams, Paul;
Wong, William;
Rorsman, Patrik;
Thakker, Rajesh V.

Publication type:

Article

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 3039, doi. 10.1093/hmg/ddp242

By:

Swami, Meera;
Hendricks, Audrey E.;
Gillis, Tammy;
Massood, Tiffany;
Mysore, Jayalakshmi;
Myers, Richard H.;
Wheeler, Vanessa C.

Publication type:

Article

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 2957, doi. 10.1093/hmg/ddp233

By:

Rudd, M. Katharine;
Keene, Julia;
Bunke, Brian;
Kaminsky, Erin B.;
Adam, Margaret P.;
Mulle, Jennifer G.;
Ledbetter, David H.;
Martin, Christa L.

Publication type:

Article

Aberrant de novo methylation of the p16INK4A CpG island is initiated post gene silencing in association with chromatin remodelling and mimics nucleosome positioning.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 16, p. 3098, doi. 10.1093/hmg/ddp251

By:

Hinshelwood, Rebecca A.;
Melki, John R.;
Huschtscha, Lily I.;
Paul, Cheryl;
Song, Jenny Z.;
Stirzaker, Clare;
Reddel, Roger R.;
Clark, Susan J.

Publication type:

Article