Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 21

Results: 17

Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2709, doi. 10.1093/hmg/ddh281

By:

Matsuda, Junko;
Kido, Makiko;
Tadano-Aritomi, Keiko;
Ishizuka, Ineo;
Tominaga, Kumiko;
Toida, Kazunori;
Takeda, Eiji;
Suzuki, Kunihiko;
Kuroda, Yasuhiro

Publication type:

Article

Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2699, doi. 10.1093/hmg/ddh280

By:

Numakawa, Tadahiro;
Yagasaki, Yuki;
Ishimoto, Tetsuya;
Okada, Takeya;
Suzuki, Tatsuyo;
Iwata, Nakao;
Ozaki, Norio;
Taguchi, Takahisa;
Tatsumi, Masahiko;
Kamijima, Kunitoshi;
Straub, Richard E.;
Weinberger, Daniel R.;
Kunugi, Hiroshi;
Hashimoto, Ryota

Publication type:

Article

Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2725, doi. 10.1093/hmg/ddh297

By:

Bruno, Ivone G.;
Jin, Wei;
Cote, Gilbert J.

Publication type:

Article

Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2557, doi. 10.1093/hmg/ddh294

By:

Ke, Xiayi;
Durrant, Caroline;
Morris, Andrew P.;
Hunt, Sarah;
Bentley, David R.;
Deloukas, Panos;
Cardon, Lon R.

Publication type:

Article

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2581, doi. 10.1093/hmg/ddh291

By:

Teijido, Oscar;
Martínez, Albert;
Pusch, Michael;
Zorzano, Antonio;
Soriano, Eduardo;
del Río, Jose Antonio;
Palacín, Manuel;
Estévez, Raúl

Publication type:

Article

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2679, doi. 10.1093/hmg/ddh282

By:

Collins, Ann L.;
Levenson, Jonathan M.;
Vilaythong, Alexander P.;
Richman, Ronald;
Armstrong, Dawna L.;
Noebels, Jeffrey L.;
David Sweatt, J.;
Zoghbi, Huda Y.

Publication type:

Article

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2547, doi. 10.1093/hmg/ddh296

By:

Nazlican, Hülya;
Zeschnigk, Michael;
Claussen, Uwe;
Michel, Susanne;
Boehringer, Stefan;
Gillessen-Kaesbach, Gabriele;
Buiting, Karin;
Horsthemke, Bernhard

Publication type:

Article

Decreased mechanical stiffness in LMNA−/− cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2567, doi. 10.1093/hmg/ddh295

By:

Broers, Jos L.V.;
Peeters, Emiel A.G.;
Kuijpers, Helma J.H.;
Endert, Jorike;
Bouten, Carlijn V.C.;
Oomens, Cees W.J.;
Baaijens, Frank P.T.;
Ramaekers, Frans C.S.

Publication type:

Article

Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2595, doi. 10.1093/hmg/ddh292

By:

Brancaccio, Anna;
Minichiello, Annunziata;
Grachtchouk, Marina;
Antonini, Dario;
Sheng, Hong;
Parlato, Rosanna;
Dathan, Nina;
Dlugosz, Andrzej A.;
Missero, Caterina

Publication type:

Article

Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease?

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2607, doi. 10.1093/hmg/ddh293

By:

de Yebra, Lluïsa;
Adroer, Rosa;
de Gregorio-Rocasolano, Nuria;
Blesa, Rafael;
Trullas, Ramon;
Mahy, Nicole

Publication type:

Article

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith–Magenis syndrome.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2613, doi. 10.1093/hmg/ddh288

By:

Yan, Jiong;
Keener, Victoria W.;
Bi, Weimin;
Walz, Katherina;
Bradley, Allan;
Justice, Monica J.;
Lupski, James R.

Publication type:

Article

Relaxation of selective constraint and loss of function in the evolution of human bitter taste receptor genes.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2671, doi. 10.1093/hmg/ddh289

By:

Wang, Xiaoxia;
Thomas, Stephanie D.;
Zhang, Jianzhi

Publication type:

Article

Sequence variants of the gene encoding chemoattractant receptor expressed on Th2 cells (CRTH2) are associated with asthma and differentially influence mRNA stability.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2691, doi. 10.1093/hmg/ddh279

By:

Huang, Jing-Long;
Gao, Pei-Song;
Mathias, Rasika A.;
Yao, Tsung-Chieh;
Chen, Li-Chen;
Kuo, Ming-Ling;
Hsu, Shih-Chang;
Plunkett, Beverly;
Togias, Alkis;
Barnes, Kathleen C.;
Stellato, Cristiana;
Beaty, Terri H.;
Huang, Shau-Ku

Publication type:

Article

A cladistic model of ACE sequence variation with implications for myocardial infarction, Alzheimer disease and obesity.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2647, doi. 10.1093/hmg/ddh286

By:

Katzov, Hagit;
Bennet, Anna M.;
Kehoe, Patrick;
Wiman, Björn;
Gatz, Margaret;
Blennow, Kaj;
Lenhard, Boris;
Pedersen, Nancy L.;
de Faire, Ulf;
Prince, Jonathan A.

Publication type:

Article

Functionally significant SNP MMP8 promoter haplotypes and preterm premature rupture of membranes (PPROM).

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2659, doi. 10.1093/hmg/ddh287

By:

Wang, Hongyan;
Parry, Samuel;
Macones, George;
Sammel, Mary D.;
Ferrand, Pedro E.;
Kuivaniemi, Helena;
Tromp, Gerard;
Halder, Indrani;
Shriver, Mark D.;
Romero, Roberto;
Strauss, Jerome F.

Publication type:

Article

Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2625, doi. 10.1093/hmg/ddh284

By:

Zenker, Martin;
Aigner, Thomas;
Wendler, Olaf;
Tralau, Tim;
Müntefering, Horst;
Fenski, Regina;
Pitz, Susanne;
Schumacher, Valérie;
Royer-Pokora, Brigitte;
Wühl, Elke;
Cochat, Pierre;
Bouvier, Raymonde;
Kraus, Cornelia;
Mark, Karlheinz;
Madlon, Henry;
Dötsch, Jörg;
Rascher, Wolfgang;
Maruniak-Chudek, Iwona;
Lennert, Thomas;
Neumann, Luitgard M.

Publication type:

Article

Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 21, p. 2633, doi. 10.1093/hmg/ddh285

By:

Joya, Josephine E.;
Kee, Anthony J.;
Nair-Shalliker, Visalini;
Ghoddusi, Majid;
Nguyen, Mai-Anh T.;
Luther, Pradeep;
Hardeman, Edna C.

Publication type:

Article