A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-ACARABALONA, Aurelie; BEGUIN, Shirley; COUPRY, Isabelle et al.Human molecular genetics (Print). 2012, Vol 21, Num 5, pp 1004-1017, issn 0964-6906, 14 p.Article

A meckelin―filamin A interaction mediates ciliogenesisADAMS, Matthew; SIMMS, Roslyn J; BLAIR, Edward et al.Human molecular genetics (Print). 2012, Vol 21, Num 6, pp 1272-1286, issn 0964-6906, 15 p.Article

ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repressionSHOUBRIDGE, Cheryl; TAN, May Huey; SEIBOTH, Grace et al.Human molecular genetics (Print). 2012, Vol 21, Num 7, pp 1639-1647, issn 0964-6906, 9 p.Article

Abnormal interaction of VDAC1 with amyloid beta and phosphorylated tau causes mitochondrial dysfunction in Alzheimer's diseaseMANCZAK, Maria; HEMACHANDRA REDDY, P.Human molecular genetics (Print). 2012, Vol 21, Num 23, pp 5131-5146, issn 0964-6906, 16 p.Article

Accumulation of instability in serial differentiation and reprogramming of parthenogenetic human cellsVASSENA, Rita; MONTSERRAT, Nuria; CARRASCO CANAL, Beatriz et al.Human molecular genetics (Print). 2012, Vol 21, Num 15, pp 3366-3373, issn 0964-6906, 8 p.Article

Advance Access published on May 16, 2012 Identification of cis-regulatory variation influencing protein abundance levels in human plasmaLOURDUSAMY, Anbarasu; NEWHOUSE, Stephan; MECOCCI, Patrizia et al.Human molecular genetics (Print). 2012, Vol 21, Num 16, pp 3719-3726, issn 0964-6906, 8 p.Article

Advance Access published on May 22, 2012 Epigenetic markers of prostate cancer in plasma circulating DNACORTESE, Rene; KWAN, Andrew; TVERKUVIENE, Justina et al.Human molecular genetics (Print). 2012, Vol 21, Num 16, pp 3619-3631, issn 0964-6906, 13 p.Article

Altered LKB1/AMPK/TSC1/TSC2/mTOR signaling causes disruption of Sertoli cell polarity and spermatogenesisTANWAR, Pradeep S; KANEKO-TARUI, Tomoko; ZHANG, Lihua et al.Human molecular genetics (Print). 2012, Vol 21, Num 20, pp 4394-4405, issn 0964-6906, 12 p.Article

Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neuronsSTERKY, Fredrik H; HOFFMAN, Alexander F; MILENKOVIC, Dusanka et al.Human molecular genetics (Print). 2012, Vol 21, Num 5, pp 1078-1089, issn 0964-6906, 12 p.Article

Altered maturation of the primary somatosensory cortex in a mouse model of fragile X syndromeTILL, Sally M; WIJETUNGE, Lasani S; SEIDEL, Viktoria G et al.Human molecular genetics (Print). 2012, Vol 21, Num 10, pp 2143-2156, issn 0964-6906, 14 p.Article

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activityTAKANO, Kyoko; DAN LIU; BOARD, Philip G et al.Human molecular genetics (Print). 2012, Vol 21, Num 20, pp 4497-4507, issn 0964-6906, 11 p.Article

An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growthMUGNIERY, Emilie; DACQUIN, Romain; MARTY, Caroline et al.Human molecular genetics (Print). 2012, Vol 21, Num 11, pp 2503-2513, issn 0964-6906, 11 p.Article

An ancient founder mutation in PROKR2 impairs human reproductionAVBELJ STEFANIJA, Magdalena; JEANPIERRE, Marc; FLOREZ, Jose C et al.Human molecular genetics (Print). 2012, Vol 21, Num 19, pp 4314-4324, issn 0964-6906, 11 p.Article

Balancing neural crest cell intrinsic processes with those of the microenvironment in Tcof1 haploinsufficient mice enables complete enteric nervous system formationBARLOW, Amanda J; DIXON, Jill; DIXON, Michael J et al.Human molecular genetics (Print). 2012, Vol 21, Num 8, pp 1782-1793, issn 0964-6906, 12 p.Article

Bezafibrate administration improves behavioral deficits and tau pathology in P301S miceDUMONT, Magali; STACK, Cliona; CHAN, Robin B et al.Human molecular genetics (Print). 2012, Vol 21, Num 23, pp 5091-5105, issn 0964-6906, 15 p.Article

Calpain and STriatal-Enriched protein tyrosine Phosphatase (STEP) activation contribute to extrasynaptic NMDA receptor localization in a Huntington's disease mouse modelGLADDING, Clare M; SEPERS, Marja D; JIAN XU et al.Human molecular genetics (Print). 2012, Vol 21, Num 17, pp 3739-3752, issn 0964-6906, 14 p.Article

Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipinITO, Daisuke; YAGI, Takuya; IKAWA, Masahito et al.Human molecular genetics (Print). 2012, Vol 21, Num 3, pp 635-646, issn 0964-6906, 12 p.Article

Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanoloneZHENGYU CAO; HULSIZER, Susan; TASSONE, Flora et al.Human molecular genetics (Print). 2012, Vol 21, Num 13, pp 2923-2935, issn 0964-6906, 13 p.Article

Comparative analysis of somatic copy-number alterations across different human cancer types reveals two distinct classes of breakpoint hotspotsYUDONG LI; LI ZHANG; BALL, Robyn L et al.Human molecular genetics (Print). 2012, Vol 21, Num 22, pp 4957-4965, issn 0964-6906, 9 p.Article

Comparative gene expression analysis between coronary arteries and internal mammary arteries identifies a role for the TES gene in endothelial cell functions relevant to coronary artery diseaseARCHACKI, Stephen R; ANGHELOIU, George; MORAVEC, Christine S et al.Human molecular genetics (Print). 2012, Vol 21, Num 6, pp 1364-1373, issn 0964-6906, 10 p.Article

Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancerHANSMANN, Tamara; PLIUSHCH, Galyna; LEUBNER, Monika et al.Human molecular genetics (Print). 2012, Vol 21, Num 21, pp 4669-4679, issn 0964-6906, 11 p.Article

DJ-1 induces thioredoxin 1 expression through the Nrf2 pathwayIM, Joo-Young; LEE, Kang-Woo; WOO, Jong-Min et al.Human molecular genetics (Print). 2012, Vol 21, Num 13, pp 3013-3024, issn 0964-6906, 12 p.Article

Deregulation of the A-to-I RNA editing mechanism in psychiatric disordersSILBERBERG, Gilad; LUNDIN, Daniel; NAVON, Ruth et al.Human molecular genetics (Print). 2012, Vol 21, Num 2, pp 311-321, issn 0964-6906, 11 p.Article

Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1BALMUS, Gabriel; MIN ZHU; PETERS, Rachel M et al.Human molecular genetics (Print). 2012, Vol 21, Num 15, pp 3408-3420, issn 0964-6906, 13 p.Article

Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1ORDONEZ, M. Paulina; ROBERTS, Elizabeth A; KIDWELL, Chelsea U et al.Human molecular genetics (Print). 2012, Vol 21, Num 12, pp 2651-2662, issn 0964-6906, 12 p.Article