Human Molecular Genetics

The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don’t
pp. 463-465(3)
Authors: Jacobs, Howard T.; Holt, Ian J.

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients
pp. 467-475(9)
Authors: Börner, G. Valentin; Zeviani, Massimo; Tiranti, Valeria; Carrara, Franco; Hoffmann, Sabine; Gerbitz, Klaus Dieter; Lochmüller, Hanns; Pongratz, Dieter; Klopstock, Thomas; Melberg, Atle; Holme, Elisabeth; Pääbo, Svante

Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA
pp. 477-488(12)
Authors: Prakash, Siddharth K.; Paylor, Richard; Jenna, Sarah; Lamarche-Vane, Nathalie; Armstrong, Dawna L.; Xu, Bisong; Mancini, Michael A.; Zoghbi, Huda Y.

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis
pp. 489-501(13)
Authors: Shaikh, Tamim H.; Kurahashi, Hiroki; Saitta, Sulagna C.; O’Hare, Anna Mizrahy; Hu, Ping; Roe, Bruce A.; Driscoll, Deborah A.; McDonald-McGinn, Donna M.; Zackai, Elaine H.; Budarf, Marcia L.; Emanuel, Beverly S.

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in Hdh^Q92 and Hdh^Q111 knock-in mice
pp. 503-513(11)
Authors: Wheeler, Vanessa C.; White, Jacqueline K.; Gutekunst, Claire-Anne; Vrbanac, Vladimir; Weaver, Meredith; Li, Xiao-Jiang; Li, Shi-Hua; Yi, Hong; Vonsattel, Jean-Paul; Gusella, James F.; Hersch, Steven; Auerbach, Wojtek; Joyner, Alexandra L.; MacDonald, Marcy E.

Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21
pp. 515-523(9)
Authors: Brown, Amanda Savage; Feingold, Eleanor; Broman, Karl W.; Sherman, Stephanie L.

A functional analysis of a natural variant of intercellular adhesion molecule-1 (ICAM-1^Kilifi)
pp. 525-530(6)
Authors: Craig, Alister; Fernandez-Reyes, Delmiro; Mesri, Mehdi; McDowall, Alison; Altieri, Dario C.; Hogg, Nancy; Newbold, Christopher

Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3)
pp. 531-537(7)
Authors: Zeiss, Caroline J.; Ray, Kunal; Acland, Gregory M.; Aguirre, Gustavo D.

Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association
pp. 539-547(9)
Authors: Bérubé, Nathalie G.; Smeenk, Cecilia A.; Picketts, David J.

Genetic variants of IL-13 signalling and human asthma and atopy
pp. 549-559(11)
Authors: Heinzmann, A.; Mao, X.-Q.; Akaiwa, M.; Kreomer, R.T.; Gao, P.-S.; Ohshima, K.; Umeshita, R.; Abe, Y.; Braun, S.; Yamashita, T.; Roberts, M.H.; Sugimoto, R.; Arima, K.; Arinobu, Y.; Yu, B.; Kruse, S.; Enomoto, T.; Dake, Y.; Kawai, M.; Shimazu, S.; Sasaki, S.; Adra, C.N.; Kitaichi, M.; Inoue, H.; Yamauchi, K.; Tomichi, N.; Kurimoto, F.; Hamasaki, N.; Hopkin, J.M.; Izuhara, K.; Shirakawa, T.; Deichmann, K.A.

Developmentally distinct effects on human -, - and -globin levels caused by the absence or altered position of the human -globin gene in YAC transgenic mice
pp. 561-574(14)
Authors: Bauchwitz, Robert; Costantini, Frank

A genetic risk factor for mouse neural tube defects: defining the embryonic basis
pp. 575-581(7)
Authors: Fleming, Angeleen; Copp, Andrew J.

A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p
pp. 583-588(6)
Authors: Moshous, Despina; Li, Lanying; Chasseval, Régina de; Philippe, Noel; Jabado, Nada; Cowan, Morton J.; Fischer, Alain; Villartay, Jean-Pierre de

An imprinted locus associated with transient neonatal diabetes mellitus
pp. 589-596(8)
Authors: Gardner, Rebecca J.; Mackay, Deborah J.G.; Mungall, Andrew J.; Polychronakos, Constantin; Siebert, Reiner; Shield, Julian P.H.; Temple, I. Karen; Robinson, David O.

Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2
pp. 597-604(8)
Authors: Kondo, Tadashi; Bobek, Miroslav P.; Kuick, Rork; Lamb, Barbara; Zhu, Xiaoxiang; Bourc’his, Déborah; Viegas-Péquignot, Evani; Ehrlich, Melanie; Hanash, Samir M.

Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties
pp. 605-616(12)
Authors: Groenen, Patricia J.T.A.; Wansink, Derick G.; Coerwinkel, Marga; van den Broek, Walther; Jansen, Gert; Wieringa, Bé

Expression of the human CFTR gene from episomal oriP-EBNA1-YACs in mouse cells
pp. 617-629(13)
Authors: Huertas, Dori; Howe, Steve; McGuigan, Amanda; Huxley, Clare

-globin YAC transgenes exhibit uniform expression levels but position effect variegation in mice
pp. 631-636(6)
Authors: Alami, Raouf; Greally, John M.; Tanimoto, Keiji; Hwang, Steven; Feng, Yong-Qing; Engel, James D.; Fiering, Steven; Bouhassira, Eric E.

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
pp. 637-644(8)
Authors: Fonknechten, Nùria; Mavel, Delphine; Byrne, Paula; Davoine, Claire-Sophie; Cruaud, Corinne; Boentsch, Dominikus; Samson, Delphine; Coutinho, Paula; Hutchinson, Michael; Monagle, Paul Mc; Burgunder, Jean-Marc; Tartaglione, Antonio; Heinzlef, Olivier; Feki, Imed; Deufel, Thomas; Parfrey, Nollaig; Brice, Alexis; Fontaine, Bertrand; Prud’homme, Jean-François; Weissenbach, Jean; Dürr, Alexandra; Hazan, Jamilé

Mutation of the receptor tyrosine kinase gene Mertkin the retinal dystrophic RCS rat
pp. 645-651(7)
Authors: D’Cruz, Patricia M.; Yasumura, Douglas; Weir, Jessica; Matthes, Michael T.; Abderrahim, Hadi; LaVail, Matthew M.; Vollrath, Douglas

Transduction of 3-flanking sequences is common in L1 retrotransposition
pp. 653-657(5)
Authors: Goodier, John L.; Ostertag, Eric M.; Kazazian, Haig H.