Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 2

Results: 31

Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 335, doi. 10.1093/hmg/ddi030

By:

Hewett, Duncan R.;
Simons, Alison L.;
Mangan, Niamh E.;
Jolin, Helen E.;
Green, Shelia M.;
Fallon, Padraic G.;
McKenzie, Andrew N.J.

Publication type:

Article

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 295, doi. 10.1093/hmg/ddi026

By:

T. Esapa, Christopher;
Jeffrey McIlhinney, R.A.;
Blake, Derek J.

Publication type:

Article

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 307, doi. 10.1093/hmg/ddi027

By:

Fernet, Marie;
Gribaa, Moez;
Salih, Mustafa A.M.;
Seidahmed, Mohamed Zein;
Hall, Janet;
Koenig, Michel

Publication type:

Article

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 255, doi. 10.1093/hmg/ddi023

By:

Zhenglin Yang;
V. Alvarez, Bernardo;
Chakarova, Christina;
Li Jiang;
Karan, Goutam;
Frederick, Jeanne M.;
Yu Zhao;
Sauvé, Yves;
Xi Li;
Zrenner, Eberhart;
Wissinger, Bernd;
Den Hollander, Anneke I.;
Katz, Bradley;
Baehr, Wolfgang;
Cremers, Frans P.;
Casey, Joseph R.;
Bhattacharya, Shomi S.;
Kang Zhang

Publication type:

Article

Differential DNA hypermethylation and hypomethylation signatures in colorectal cancer.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 319, doi. 10.1093/hmg/ddi028

By:

Frigola, Jordi;
Solé, Xavier;
Paz, Maria F.;
Moreno, Victor;
Esteller, Manel;
Capellà, Gabriel;
Peinado, Miguel A.

Publication type:

Article

Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 327, doi. 10.1093/hmg/ddi029

By:

Yoshiko Ohgari;
Mari Sawamoto;
Masayoshi Yamamoto;
Kohno, Hirao;
Shigeru Taketani

Publication type:

Article

Strand bias in oligonucleotide-mediated dystrophin gene editing.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 221, doi. 10.1093/hmg/ddi020

By:

Bertoni, Carmen;
Morris, Glenn E.;
Rando, Thomas A.

Publication type:

Article

Altered expression of mitochondria-related genes in postmortem brains of patients with bipolar disorder or schizophrenia, as revealed by large-scale DNA microarray analysis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 241, doi. 10.1093/hmg/ddi022

By:

Kazuya Iwamoto;
Bundo, Miki;
Tadafumi Kato

Publication type:

Article

TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung’s disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 191, doi. 10.1093/hmg/ddi015

By:

Garcia-Barcelo, Mercè;
Ganster, Raymond W.;
Lui, Vincent C. H.;
Leon, Thomas Y. Y.;
Man-Ting So;
Lau, Anson M. F.;
Ming Fu;
Sham, Mai-Har;
Knight, Joanne;
Zannini, Maria Stella;
Sham, Pak C.;
Tam, Paul K. H.

Publication type:

Article

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 279, doi. 10.1093/hmg/ddi025

By:

Baker, Naomi L.;
Mörgelin, Matthias;
Peat, Rachel;
Goemans, Nathalie;
North, Kathryn N.;
Bateman, John F.;
Lamandé, Shireen R.

Publication type:

Article

Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 205, doi. 10.1093/hmg/ddi016

By:

Moretti, Paolo;
Bouwknecht, J. Adriaan;
Teague, Ryan;
Paylor, Richard;
Zoghbi, Huda Y.

Publication type:

Article

Transcriptional dysregulation in striatal projection- and interneurons in a mouse model of Huntington’s disease: neuronal selectivity and potential neuroprotective role of HAP1.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 179, doi. 10.1093/hmg/ddi014

By:

Zucker, Birgit;
Luthi-Carter, Ruth;
Kama, Jibrin A.;
Dunah, Anthone W.;
Stern, Edward A.;
Fox, Jonathan H.;
Standaert, David G.;
Young, Anne B.;
Augood, Sarah J.

Publication type:

Article

Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 235, doi. 10.1093/hmg/ddi021

By:

Alazzouzi, Hafid;
Domingo, Enric;
González, Sara;
Blanco, Ignacio;
Armengol, Manel;
Espín, Eloi;
Plaja, Alberto;
Schwartz, Simó;
Capella, Gabriel;
Schwartz Jr., Simó

Publication type:

Article

Molecular dissection of the events leading to inactivation of the FMR1 gene.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 267, doi. 10.1093/hmg/ddi024

By:

Pietrobono, Roberta;
Tabolacci, Elisabetta;
Zalfa, Francesca;
Zito, Ilaria;
Terracciano, Alessandra;
Moscato, Umberto;
Bagni, Claudia;
Oostra, Ben;
Chiurazzi, Pietro;
Neri, Giovanni

Publication type:

Article

Susceptibility genes for complex epilepsy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r243, doi. 10.1093/hmg/ddi355

By:

Mulley, John C.;
Scheffer, Ingrid E.;
Harkin, Louise A.;
Berkovic, Samuel F.;
Dibbens, Leanne M.

Publication type:

Article

Interactome: gateway into systems biology.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r171, doi. 10.1093/hmg/ddi335

By:

Cusick, Michael E.;
Klitgord, Niels;
Vidal, Marc;
Hill, David E.

Publication type:

Article

Synapse proteomics of multiprotein complexes: en route from genes to nervous system diseases.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r225, doi. 10.1093/hmg/ddi330

By:

Grant, Seth G.N.;
Marshall, Michael C.;
Page, Keri-Lee;
Cumiskey, Mark A.;
Armstrong, J. Douglas

Publication type:

Article

Gearing up for genome-wide gene-association studies.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r157, doi. 10.1093/hmg/ddi273

By:

Farrall, Martin;
Morris, Andrew P.

Publication type:

Article

Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r259, doi. 10.1093/hmg/ddi272

By:

Ferreira, Paulo A.

Publication type:

Article

Camels and zebrafish, viruses and cancer: a microRNA update.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r183, doi. 10.1093/hmg/ddi271

By:

Berezikov, Eugene;
Plasterk, Ronald H.A.

Publication type:

Article

Emerging functions of mammalian mitochondrial fusion and fission.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r283, doi. 10.1093/hmg/ddi270

By:

Chen, Hsiuchen;
Chan, David C.

Publication type:

Article

Small molecule intervention in microtubule-associated human disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r291, doi. 10.1093/hmg/ddi269

By:

Gerdes, Jantje M.;
Katsanis, Nicholas

Publication type:

Article

Identification of disease genes by whole genome CGH arrays.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r215, doi. 10.1093/hmg/ddi268

By:

Vissers, Lisenka E.L.M.;
Veltman, Joris A.;
van Kessel, Ad Geurts;
Brunner, Han G.

Publication type:

Article

Genetical genomics: combining genetics with gene expression analysis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r163, doi. 10.1093/hmg/ddi267

By:

Li, Jun;
Burmeister, Margit

Publication type:

Article

The first molecular details of ALT in human tumor cells.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r191, doi. 10.1093/hmg/ddi266

By:

Muntoni, Alessandra;
Reddel, Roger R.

Publication type:

Article

Mechanisms of common fragile site instability.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r197, doi. 10.1093/hmg/ddi265

By:

Glover, Thomas W.;
Arlt, Martin F.;
Casper, Anne M.;
Durkin, Sandra G.

Publication type:

Article

Genetic basis of Joubert syndrome and related disorders of cerebellar development.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r235, doi. 10.1093/hmg/ddi264

By:

Louie, Carrie M.;
Gleeson, Joseph G.

Publication type:

Article

The genetics of attention deficit hyperactivity disorder.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r275, doi. 10.1093/hmg/ddi263

By:

Thapar, Anita;
O'Donovan, Michael;
Owen, Michael J

Publication type:

Article

The genetics of Fraser syndrome and the blebs mouse mutants.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r269, doi. 10.1093/hmg/ddi262

By:

Smyth, Ian;
Scambler, Peter

Publication type:

Article

Pharmacogenetics/genomics and personalized medicine.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r207

By:

Sadée, Wolfgang;
Dai, Zunyan

Publication type:

Article

Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. r251, doi. 10.1093/hmg/ddi260

By:

Kwiatkowski, David J.;
Manning, Brendan D.

Publication type:

Article