Human Molecular Genetics

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype
pp. 3083-3097(15)
Authors: Oji, Vinzenz; Hautier, Juliette Mazereeuw; Ahvazi, Bijan; Hausser, Ingrid; Aufenvenne, Karin; Walker, Tatjana; Seller, Natalia; Steijlen, Peter M.; Küster, Wolfgang; Hovnanian, Alain; Hennies, Hans Christian; Traupe, Heiko

A novel PtdIns3P and PtdIns(3,5)P₂ phosphatase with an inactivating variant in centronuclear myopathy
pp. 3098-3106(9)
Authors: Tosch, Valérie; Rohde, Holger M.; Zanoteli, Edmar; Monroy, Nancy; Kretz, Christine; Dondaine, Nicolas; Payrastre, Bernard; Mandel, Jean-Louis; Laporte, Jocelyn

Lentiviral vector expressing retinoic acid receptor β2 promotes recovery of function after corticospinal tract injury in the adult rat spinal cord
pp. 3107-3118(12)
Authors: Yip, Ping K.; Wong, Liang-Fong; Battaglia, Anna; Grist, John; Bradbury, Elizabeth J.; Maden, Malcolm; McMahon, Stephen B.; Mazarakis, Nicholas D.

Cholinergic neuronal defect without cell loss in Huntington's disease
pp. 3119-3131(13)
Authors: Smith, Ruben; Chung, Hinfan; Rundquist, Sara; Maat-Schieman, Marion L.C.; Colgan, Lesley; Englund, Elisabet; Liu, Yong-Jian; Roos, Raymund A.C.; Faull, Richard L.M.; Brundin, Patrik; Li, Jia-Yi

Hypomethylation of MB-COMT promoter is a major risk factor for schizophrenia and bipolar disorder
pp. 3132-3145(14)
Authors: Abdolmaleky, Hamid Mostafavi; Cheng, Kuang-hung; Faraone, Stephen V.; Wilcox, Marsha; Glatt, Stephen J.; Gao, Fangming; Smith, Cassandra L.; Shafa, Rahim; Aeali, Batol; Carnevale, Julie; Pan, Hongjie; Papageorgis, Panagiotis; Ponte, Jose F.; Sivaraman, Vadivelu; Tsuang, Ming T.

Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31-34
pp. 3146-3153(8)
Authors: Herzberg, Ibi; Jasinska, Anna; García, Jenny; Jawaheer, Damini; Service, Susan; Kremeyer, Barbara; Duque, Constanza; Parra, María V.; Vega, Jorge; Ortiz, Daniel; Carvajal, Luis; Polanco, Guadalupe; Restrepo, Gabriel J.; López, Carlos; Palacio, Carlos; Levinson, Matthew; Aldana, Ileana; Mathews, Carol; Davanzo, Pablo; Molina, Julio; Fournier, Eduardo; Bejarano, Julio; Ramírez, Magui; Ortiz, Carmen Araya; Araya, Xinia; Sabatti, Chiara; Reus, Victor; Macaya, Gabriel; Bedoya, Gabriel; Ospina, Jorge; Freimer, Nelson; Ruiz-Linares, Andrés

Functional genetic analysis of mutations implicated in a human speech and language disorder
pp. 3154-3167(14)
Authors: Vernes, Sonja C.; Nicod, Jérôme; Coventry, Julie A.; Kenny, Niamh; Coupe, Anne-Marie; Bird, Louise E.; Davies, Kay E.; Fisher, Simon E.

Cystathionine β-synthase is essential for female reproductive function
pp. 3168-3176(9)
Authors: Guzmán, Mario A.; Navarro, María A.; Carnicer, Ricardo; Sarría, Alfonso J.; Acín, Sergio; Arnal, Carmen; Muniesa, Pedro; Surra, Joaquín C.; Arbonés-Mainar, José M.; Maeda, Nobuyo; Osada, Jesús

Behavioral abnormalities precede neuropathological markers in rats transgenic for Huntington's disease
pp. 3177-3194(18)
Authors: Nguyen, Huu Phuc; Kobbe, Philipp; Rahne, Henning; Wörpel, Till; Jäger, Burkard; Stephan, Michael; Pabst, Reinhard; Holzmann, Carsten; Riess, Olaf; Korr, Hubert; Kántor, Orsolya; Petrasch-Parwez, Elisabeth; Wetzel, Ronald; Osmand, Alexander; von Hörsten, Stephan

Evidence for unique association signals in SLE at the CD28-CTLA4-ICOS locus in a family-based study
pp. 3195-3205(11)
Authors: Graham, D.S. Cunninghame; Wong, A.K.; McHugh, N.J.; Whittaker, J.C.; Vyse, Timothy J.

CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses
pp. 3206-3218(13)
Authors: Conley, Yvette P.; Jakobsdottir, Johanna; Mah, Tammy; Weeks, Daniel E.; Klein, Ronald; Kuller, Lewis; Ferrell, Robert E.; Gorin, Michael B.

Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy
pp. 3219-3228(10)
Authors: Aggarwal, Vimla S.; Liao, Jun; Schimmang, Thomas; Lewandoski, Mark; Locker, Joseph; Shanske, Alan; Campione, Marina; Morrow, Bernice E.

FGF19 is a target for FOXC1 regulation in ciliary body-derived cells
pp. 3229-3240(12)
Authors: Tamimi, Yahya; Skarie, Jonathan M.; Link, Brian A.; Walter, Michael A.

Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behavior
pp. 3241-3250(10)
Authors: Nishijima, Ichiko; Yamagata, Takanori; Spencer, Corinne M.; Weeber, Edwin J.; Alekseyenko, Olga; Sweatt, J. David; Momoi, Mariko Y.; Ito, Masayuki; Armstrong, Dawna L.; Nelson, David L.; Paylor, Richard; Bradley, Allan

C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1
pp. 3251-3262(12)
Authors: Sim, Chou Hung; Lio, Daisy Sio Seng; Mok, Su San; Masters, Colin L.; Hill, Andrew F.; Culvenor, Janetta G.; Cheng, Heung-Chin

Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives
pp. 3263-3271(9)
Authors: Webb, Emily L.; Rudd, Matthew F.; El Galta, Rachid; Bethke, Lara; Wood, Wendy; Fletcher, Olivia; Penegar, Steven; Withey, Laura; Qureshi, Mobshra; Johnson, Nichola; Tomlinson, Ian; Gray, Richard; Peto, Julian; Houlston, Richard S.

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity
pp. 3272-3272(1)
Authors: Urak, Lydia; Feucht, Martha; Fathi, Nahid; Hornik, Kurt; Fuchs, Karoline