Human Molecular Genetics

Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a–TIMM13 complex
pp. 477-486(10)
Authors: Tranebjaerg L.; Roesch K.; Curran S.P.; Koehler C.M.

Knockout mouse model for Fxr2: a model for mental retardation
pp. 487-498(12)
Authors: McAninch R.; Bontekoe C.J.M.; McIlwain K.L.; Cheng N.C.; Merriweather M.; Nieuwenhuizen I.M.; Yuva-Paylor L.A.; Hoogeveen A.T.; Nelson D.; Nellis A.; Paylor R.; Fang Z.; Oostra B.A.; Kirkpatrick L.; Bakker C.E.; Willemsen R.

Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy
pp. 499-505(7)
Authors: Callizot N.; Bartsch U.; Schachner M.; Pujol A.; Hindelang C.; Mandel J.L.

A Gja8 (Cx50) point mutation causes an alteration of 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice
pp. 507-513(7)
Authors: Wang X.; Ojakian R.; Lo W-K.; Gong X.; Chang B.; Hawes N.L.; Davisson M.T.

Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy
pp. 515-523(9)
Authors: Bailey C.K.; Andriola I.F.M.; Kampinga H.H.; Merry D.E.

A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells
pp. 525-534(10)
Authors: Kwiatkowski D.J.; Zhang H.; Bandura J.L.; Heiberger K.M.; Glogauer M.; el-Hashemite N.; Onda H.

Different evolutionary processes shaped the mouse and human olfactory receptor gene families
pp. 535-546(12)
Authors: Young J.M.; Friedman C.; Williams E.M.; Ross J.A.; Tonnes-Priddy L.; Trask B.J.

Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho^–/– mice
pp. 547-558(12)
Authors: Ayuso C.; Kennan A.; Kenna P.F.; Aherne A.; Farrar G.J.; Palfi A.; Humphries P.; Humphries M.; McKee A.; Stitt A.; Simpson D.A.C.; Demtroder K.; Orntoft T.

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
pp. 559-568(10)
Authors: Bowne S.J.; Sullivan L.S.; Blanton S.H.; Cepko C.L.; Blackshaw S.; Birch D.G.; Hughbanks-Wheaton D.; Heckenlively J.R.; Daiger S.P.

The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function
pp. 569-576(8)
Authors: Connett J.E.; Anthonisen N.R.; Joos L.; He J-Q.; Shepherdson M.B.; Paré P.D.; Sandford A.J.

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra21
pp. 577-587(11)
Authors: DiDonato C.J.; Kothary R.; Androphy E.J.; Young P.J.; Hu D.; Lorson C.L.

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus
pp. 589-597(9)
Authors: Vorechovsky I.; Asumalahti K.; Marcusson J.A.; Trembath R.; Veal C.; Nakagawa H.; Kere J.; Laitinen T.; Lazaro C.; Suomela S.; Estivill X.; Allen M.; Capon F.; Elomaa O.; Novelli G.; Moser M.; de Cid R.; Ripatti S.; Saarialho-Kere U.; Barker J.

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency
pp. 599-604(6)
Authors: Kjaergaard S.; Schollen E.; Martens K.; Grunewald S.; Schwartz M.; Matthijs G.; Westphal V.; Freeze H.H.

Mutations in the RPGR gene cause X-linked cone dystrophy
pp. 605-611(7)
Authors: Yang Z.; Peachey N.S.; Moshfeghi D.M.; Thirumalaichary S.; Chorich L.; Shugart Y.Y.; Fan K.; Zhang K.