Human Molecular Genetics

The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita
pp. 721-729(9)
Authors: Zeng, Xi-Lei; Thumati, Naresh R.; Fleisig, Helen B.; Hukezalie, Kyle R.; Savage, Sharon A.; Giri, Neelam; Alter, Blanche P.; Wong, Judy M.Y.

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations
pp. 730-750(21)
Authors: Maue, Robert A.; Burgess, Robert W.; Wang, Bing; Wooley, Christine M.; Seburn, Kevin L.; Vanier, Marie T.; Rogers, Maximillian A.; Chang, Catherine C.; Chang, Ta-Yuan; Harris, Brent T.; Graber, David J.; Penatti, Carlos A.A.; Porter, Donna M.; Szwergold, Benjamin S.; Henderson, Leslie P.; Totenhagen, John W.; Trouard, Theodore P.; Borbon, Ivan A.; Erickson, Robert P.

Derivation of new human embryonic stem cell lines reveals rapid epigenetic progression in vitro that can be prevented by chemical modification of chromatin
pp. 751-764(14)
Authors: Diaz Perez, Silvia V.; Kim, Rachel; Li, Ziwei; Marquez, Victor E.; Patel, Sanjeet; Plath, Kathrin; Clark, Amander T.

Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children
pp. 765-775(11)
Authors: Flamein, Florence; Riffault, Laure; Muselet-Charlier, Céline; Pernelle, Julie; Feldmann, Delphine; Jonard, Laurence; Durand-Schneider, Anne-Marie; Coulomb, Aurore; Maurice, Michèle; Nogee, Lawrence M.; Inagaki, Nobuya; Amselem, Serge; Dubus, Jean Christophe; Rigourd, Virginie; Brémont, François; Marguet, Christophe; Brouard, Jacques; de Blic, Jacques; Clement, Annick; Epaud, Ralph; Guillot, Loïc

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
pp. 776-783(8)
Authors: Khan, Kamron; Logan, Clare V.; McKibbin, Martin; Sheridan, Eamonn; Elçioglu, Nursel H.; Yenice, Ozlem; Parry, David A.; Fernandez-Fuentes, Narcis; Abdelhamed, Zakia I.A.; Al-Maskari, Ahmed; Poulter, James A.; Mohamed, Moin D.; Carr, Ian M.; Morgan, Joanne E.; Jafri, Hussain; Raashid, Yasmin; Taylor, Graham R.; Johnson, Colin A.; Inglehearn, Chris F.; Toomes, Carmel; Ali, Manir

A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF
pp. 784-798(15)
Authors: Douni, Eleni; Rinotas, Vagelis; Makrinou, Eleni; Zwerina, Jochen; Penninger, Josef M.; Eliopoulos, Elias; Schett, Georg; Kollias, George

Postnatal neurogenesis generates heterotopias, olfactory micronodules and cortical infiltration following single-cell Tsc1 deletion
pp. 799-810(12)
Authors: Feliciano, David M.; Quon, Jennifer L.; Su, Tiffany; Taylor, M. Morgan; Bordey, Angélique

Modeling the human MTM1 p.R69C mutation in murine MTM1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
pp. 811-825(15)
Authors: Pierson, Christopher R.; Dulin-Smith, Ashley N.; Durban, Ashley N.; Marshall, Morgan L.; Marshall, Jordan T.; Snyder, Andrew D.; Naiyer, Nada; Gladman, Jordan T.; Chandler, Dawn S.; Lawlor, Michael W.; Buj-Bello, Anna; Dowling, James J.; Beggs, Alan H.

The BH4 domain of Bcl-X_L rescues astrocyte degeneration in amyotrophic lateral sclerosis by modulating intracellular calcium signals
pp. 826-840(15)
Authors: Martorana, Francesca; Brambilla, Liliana; Valori, Chiara F.; Bergamaschi, Chiara; Roncoroni, Chiara; Aronica, Eleonora; Volterra, Andrea; Bezzi, Paola; Rossi, Daniela

A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model
pp. 841-851(11)
Authors: Jonquoy, Aurélie; Mugniery, Emilie; Benoist-Lasselin, Catherine; Kaci, Nabil; Le Corre, Laurent; Barbault, Florent; Girard, Anne-Lise; Le Merrer, Yves; Busca, Patricia; Schibler, Laurent; Munnich, Arnold; Legeai-Mallet, Laurence

Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts
pp. 852-862(11)
Authors: Rhodes, Jeremy D.; Lott, Martin C.; Russell, Sarah L.; Moulton, Vincent; Sanderson, Julie; Wormstone, I. Michael; Broadway, David C.

The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic
pp. 863-873(11)
Authors: Schwarz, Nele; Novoselova, Tatiana V.; Wait, Robin; Hardcastle, Alison J.; Cheetham, Michael E.

Selective neuroprotective effects of the S18Y polymorphic variant of UCH-L1 in the dopaminergic system
pp. 874-889(16)
Authors: Xilouri, Maria; Kyratzi, Elli; Pitychoutis, Pothitos M.; Papadopoulou-Daifoti, Zoi; Perier, Celine; Vila, Miquel; Maniati, Matina; Ulusoy, Ayse; Kirik, Deniz; Park, David S.; Wada, Keiji; Stefanis, Leonidas

LRRK2 Parkinson disease mutations enhance its microtubule association
pp. 890-899(10)
Authors: Kett, Lauren R.; Boassa, Daniela; Ho, Cherry Cheng-Ying; Rideout, Hardy J.; Hu, Junru; Terada, Masako; Ellisman, Mark; Dauer, William T.

In vivo neuronal function of the fragile X mental retardation protein is regulated by phosphorylation
pp. 900-915(16)
Authors: Coffee, R. Lane; Williamson, Ashley J.; Adkins, Christopher M.; Gray, Marisa C.; Page, Terry L.; Broadie, Kendal

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models
pp. 916-925(10)
Authors: Yokoi, Fumiaki; Dang, Mai T.; Zhou, Tong; Li, Yuqing

A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations
pp. 926-933(8)
Authors: Bossini-Castillo, Lara; Martin, Jose-Ezequiel; Broen, Jasper; Gorlova, Olga; Simeo´n, Carmen P.; Beretta, Lorenzo; Vonk, Madelon C.; Luis Callejas, Jose; Castellví, Ivan; Carreira, Patricia; José García-Hernández, Francisco; Ferna´ndez Castro, Mo´nica; Coenen, Marieke J.H.; Riemekasten, Gabriela; Witte, Torsten; Hunzelmann, Nicolas; Kreuter, Alexander; Distler, Jörg H.W.; Koeleman, Bobby P.; Voskuyl, Alexandre E.; Schuerwegh, Annemie J.; Palm, Øyvind; Hesselstrand, Roger; Nordin, Annika; Airó, Paolo; Lunardi, Claudio; Scorza, Raffaella; Shiels, Paul; van Laar, Jacob M.; Herrick, Ariane; Worthington, Jane; Denton, Christopher; Tan, Filemon K.; Arnett, Frank C.; Agarwal, Sandeep K.; Assassi, Shervin; Fonseca, Carmen; Mayes, Maureen D.; Radstake, Timothy R.D.J.; Martin, Javier

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13
pp. 934-946(13)
Authors: Spain, Sarah L.; Carvajal-Carmona, Luis G.; Howarth, Kimberley M.; Jones, Angela M.; Su, Zhan; Cazier, Jean-Baptiste; Williams, Jennet; Aaltonen, Lauri A.; Pharoah, Paul; Kerr, David J.; Cheadle, Jeremy; Li, Li; Casey, Graham; Vodicka, Pavel; Sieber, Oliver; Lipton, Lara; Gibbs, Peter; Martin, Nicholas G.; Montgomery, Grant W.; Young, Joanne; Baird, Paul N.; Morreau, Hans; van Wezel, Tom; Ruiz-Ponte, Clara; Fernandez-Rozadilla, Ceres; Carracedo, Angel; Castells, Antoni; Castellvi-Bel, Sergi; Dunlop, Malcolm; Houlston, Richard S.; Tomlinson, Ian P.M.

A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13
pp. 947-957(11)
Authors: Cho, Michael H.; Castaldi, Peter J.; Wan, Emily S.; Siedlinski, Mateusz; Hersh, Craig P.; Demeo, Dawn L.; Himes, Blanca E.; Sylvia, Jody S.; Klanderman, Barbara J.; Ziniti, John P.; Lange, Christoph; Litonjua, Augusto A.; Sparrow, David; Regan, Elizabeth A.; Make, Barry J.; Hokanson, John E.; Murray, Tanda; Hetmanski, Jacqueline B.; Pillai, Sreekumar G.; Kong, Xiangyang; Anderson, Wayne H.; Tal-Singer, Ruth; Lomas, David A.; Coxson, Harvey O.; Edwards, Lisa D.; MacNee, William; Vestbo, Jørgen; Yates, Julie C.; Agusti, Alvar; Calverley, Peter M.A.; Celli, Bartolome; Crim, Courtney; Rennard, Stephen; Wouters, Emiel; Bakke, Per; Gulsvik, Amund; Crapo, James D.; Beaty, Terri H.; Silverman, Edwin K.

Gene-gene interactions in breast cancer susceptibility
pp. 958-962(5)
Authors: Turnbull, Clare; Seal, Sheila; Renwick, Anthony; Warren-Perry, Margaret; Hughes, Deborah; Elliott, Anna; Pernet, David; Peock, Susan; Adlard, Julian W.; Barwell, Julian; Berg, Jonathan; Brady, Angela F.; Brewer, Carole; Brice, Glen; Chapman, Cyril; Cook, Jackie; Davidson, Rosemarie; Donaldson, Alan; Douglas, Fiona; Greenhalgh, Lynn; Henderson, Alex; Izatt, Louise; Kumar, Ajith; Lalloo, Fiona; Miedzybrodzka, Zosia; Morrison, Patrick J; Paterson, Joan; Porteous, Mary; Rogers, Mark T.; Shanley, Susan; Walker, Lisa; Ahmed, Munaza; Eccles, Diana; Evans, D. Gareth; Donnelly, Peter; Easton, Douglas F.; Stratton, Michael R.; Rahman, Nazneen