Human Molecular Genetics

Cell type-specific gene expression of midbrain dopaminergic neurons reveals molecules involved in their vulnerability and protection
pp. 1709-1725(17)
Authors: Chung, Chee Yeun; Seo, Hyemyung; Sonntag, Kai Christian; Brooks, Andrew; Lin, Ling; Isacson, Ole

Zebrafish as a model for caveolin-associated muscle disease; caveolin-3 is required for myofibril organization and muscle cell patterning
pp. 1727-1743(17)
Authors: Nixon, Susan J.; Wegner, Jeremy; Ferguson, Charles; Méry, Pierre-François; Hancock, John F.; Currie, Peter D.; Key, Brian; Westerfield, Monte; Parton, Robert G.

A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity
pp. 1745-1751(7)
Authors: Yuan, Hsiang-Yu; Chen, Jin-Jer; Lee, M.T. Michael; Wung, Ju-Chieh; Chen, Ying-Fu; Charng, Min-Ji; Lu, Ming-Jen; Hung, Chi-Ren; Wei, Chun-Yu; Chen, Chien-Hsiun; Wu, Jer-Yuarn; Chen, Yuan-Tsong

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region
pp. 1753-1762(10)
Authors: Cruts, Marc; Rademakers, Rosa; van der Zee, Julie; Dermaut, Bart; de Pooter, Tim; de Rijk, Peter; Del-Favero, Jurgen; van Broeckhoven, Christine

Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum
pp. 1763-1773(11)
Authors: Gorgels, Theo G.M.F.; Hu, Xiaofeng; Scheffer, George L.; van der Wal, Allard C.; Toonstra, Johan; de Jong, Paulus T.V.M.; van Kuppevelt, Toin H.; Levelt, Christiaan N.; de Wolf, Anneke; Loves, Willem J.P.; Scheper, Rik J.; Peek, Ron; Bergen, Arthur A.B.

Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis
pp. 1775-1783(9)
Authors: Hance, Nicole; Ekstrand, Mats I.; Trifunovic, Aleksandra

Activation of the ALT pathway for telomere maintenance can affect other sequences in the human genome
pp. 1785-1794(10)
Authors: Jeyapalan, Jennie N.; Varley, Helen; Foxon, Jenny L.; Pollock, Raphael E.; Jeffreys, Alec J.; Henson, Jeremy D.; Reddel, Roger R.; Royle, Nicola J.

Deletion of <it>VCX-A</it> due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis
pp. 1795-1803(9)
Authors: Van Esch, Hilde; Hollanders, Karen; Badisco, Liesbeth; Melotte, Cindy; Van Hummelen, Paul; Vermeesch, Joris Robert; Devriendt, Koen; Fryns, Jean-Pierre; Marynen, Peter; Froyen, Guy

Haplotypes of the <it>WNK1</it> gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study
pp. 1805-1814(10)
Authors: Newhouse, Stephen J.; Wallace, Chris; Dobson, Richard; Mein, Charles; Pembroke, Janine; Farrall, Martin; Clayton, David; Brown, Morris; Samani, Nilesh; Dominiczak, Anna; Connell, John M.; Webster, John; Lathrop, G. Mark; Caulfield, Mark; Munroe, Patricia B.

Distinct pathogenetic mechanisms for <it>PHOX2B</it> associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome
pp. 1815-1824(10)
Authors: Bachetti, Tiziana; Matera, Ivana; Borghini, Silvia; Duca, Marco Di; Ravazzolo, Roberto; Ceccherini, Isabella

Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (<it>nmd</it>) mice
pp. 1825-1837(13)
Authors: Ruiz, Rocio; Lin, John; Forgie, Alison; Foletti, Davide; Shelton, David; Rosenthal, Arnon; Tabares, Lucia

A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma
pp. 1839-1850(12)
Authors: Wilson, Catherine; Idziaszczyk, Shelley; Parry, Lee; Guy, Carol; Griffiths, David F.R.; Lazda, Edward; Bayne, Rosemary A.L.; Smith, Andrew J.H.; Sampson, Julian R.; Cheadle, Jeremy P.

Reduced proportion of Purkinje cells expressing paternally derived mutant <it>Mecp2</it>^<it>308</it> allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation
pp. 1851-1861(11)
Authors: Watson, Catherine M.; Pelka, Gregory J.; Radziewic, Tatiana; Shahbazian, Mona D.; Christodoulou, John; Williamson, Sarah L.; Tam, Patrick P.L.

Gene expression in Huntington's disease skeletal muscle: a potential biomarker
pp. 1863-1876(14)
Authors: Strand, Andrew D.; Aragaki, Aaron K.; Shaw, Dennis; Bird, Thomas; Holton, Janice; Turner, Christopher; Tapscott, Stephen J.; Tabrizi, Sarah J.; Schapira, Anthony H.; Kooperberg, Charles; Olson, James M.

Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein
pp. 1877-1887(11)
Authors: O'Connor, Elizabeth; Eisenhaber, Birgit; Dalley, Jane; Wang, Tao; Missen, Caroline; Bulleid, Neil; Bishop, Paul N.; Trump, Dorothy

Interaction of presenilins with FKBP38 promotes apoptosis by reducing mitochondrial Bcl-2
pp. 1889-1902(14)
Authors: Wang, Hua-Qin; Nakaya, Yoshifumi; Yamane, Takuya; Shirane, Michiko; Kudo, Takashi; Takeda, Masatoshi; Takebayashi, Koichi; Noda, Yoichi; Nakayama, Keiichi I.; Nishimura, Masaki

Regulation of odorant receptors: one allele at a time
pp. 1903-1903(1)
Author: Shykind, Benjamin M.

SINE exonic insertion in the <it>PTPLA</it> gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dog
pp. 1905-1906(2)
Authors: Pelé, Manuel; Tiret, Laurent; Kessler, Jean-Louis; Blot, Stéphane; Panthier, Jean-Jacques