Human Molecular Genetics

Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia
pp. 2067-2074(8)
Authors: Geurts, Jan M.W.; Janssen, RobG.J.H.; van, MarleenM.J.; van, Carla J.H.; Cantor, RitaM.; Bu, Xiang-dong; Aouizerat, Bradley E.; Allayee, Hooman; Rotter, Jerome I.; de, Tjerk W.A.

Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith–Wiedemann syndrome
pp. 2075-2083(9)
Authors: Horike, Shin-ichi; Mitsuya, Kohzoh; Meguro, Makiko; Kotobuki, Noriko; Kashiwagi, Akiko; Notsu, Tomomi; Schulz, ThomasC.; Shirayoshi, Yasuaki; Oshimura, Mitsuo

Identification of a novel protein interacting with RPGR
pp. 2085-2093(9)
Authors: Boylan, James P.; Wright, AlanF.

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
pp. 2095-2105(11)
Authors: Roepman, Ronald; Bernoud-Hubac, Nathalie; Schick, Diana E.; Maugeri, Alessandra; Berger, Wolfgang; Ropers, Hans-Hilger; Cremers, Frans P.M.; Ferreira, PauloA.

Mutations in the CNGB3 gene encoding the -subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
pp. 2107-2116(10)
Authors: Kohl, Susanne; Baumann, Britta; Broghammer, Martina; Jägle, Herbert; Sieving, Paul; Kellner, Ulrich; Spegal, Robert; Anastasi, Mario; Zrenner, Eberhart; Sharpe, Lindsay T.; Wissinger, Bernd

An evolutionarily conserved germ cell-specific hnRNP is encoded by a retrotransposed gene
pp. 2117-2124(8)
Authors: Elliott, David J.; Venables, JulianP.; Newton, ChristopherS.; Lawson, Diane; Boyle, Shelagh; Eperon, Ian C.; Cooke, Howard J.

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance
pp. 2125-2130(6)
Authors: Moseley, Melinda L.; Schut, LawrenceJ.; Bird, Thomas D.; Day, ,John W.; Ranum, Laura P.W.

Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders
pp. 2131-2139(9)
Authors: Kozlowski, Kathy; Walter, Michael A.

Myotilin is mutated in limb girdle muscular dystrophy 1A
pp. 2141-2147(7)
Authors: Hauser, Michael A.; Horrigan, StephenK.; Salmikangas, Paula; Torian, UdanaM.; Viles, Kristi D.; Dancel, Ria; Tim, RichardW.; Taivainen, Anu; Bartoloni, Luria; Gilchrist, James M.; Stajich, JeffreyM.; Gaskell, P.Craig; Gilbert, JohnR.; Vance, JeffreyM.; Pericak-Vance, MargaretA.; Carpen, Olli; Westbrook, Carol A.; Speer, Marcy C.

Insulin-degrading enzyme identified as a candidate diabetes susceptibility gene in GK rats
pp. 2149-2158(10)
Authors: Fakhrai-Rad, Hossein; Nikoshkov, Andrej; Kamel, Ashraf; Fernström, Maria; Zierath, Juleen R.; Norgren, Svante; Luthman, Holger; Galli, Joakim

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency
pp. 2159-2165(7)
Authors: Race, Valérie; Marie, Sandrine; Vincent, Marie-Françoise; Vanden Berghe, Georges

Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart
pp. 2167-2173(7)
Authors: Lam, L.T.; Pham, Y.C.N.; Man, Nguyenthi; Morris, G.E.

Huntingtin’s WW domain partners in Huntington’s disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington’s disease pathogenesis
pp. 2175-2182(8)
Authors: Passani, Lucius A.; Bedford, MarkT.; Faber, PeterW.; McGinnis, Kim M.; Sharp, AlanH.; Gusella, JamesF.; Vonsattel, Jean-Paul; MacDonald, Marcy E.

Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis
pp. 2183-2187(5)
Authors: Kerjean, Antoine; Dupont, Jean-Michel; Vasseur, Christian; Le, Dominique; Cuisset, Laurence; Pàldi, Andràs; Jouannet, Pierre; Jeanpierre, Marc

Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness
pp. 2189-2196(8)
Authors: Ernest, Sylvain; Rauch, Gerd-Jörg; Haffter, Pascal; Geisler, Robert; Petit, Christine; Nicolson, Teresa

CREB-binding protein sequestration by expanded polyglutamine
pp. 2197-2202(6)
Authors: McCampbell, Alexander; Taylor, J.Paul; Taye, AddisA.; Robitschek, Jon; Li, Mei; Walcott, Jessica; Merry, Diane; Chai, Yaohui; Paulson, Henry; Sobue, Gen; Fischbeck, Kenneth H.