Wehling-Henricks, Michelle Li, Zhenzhi Lindsey, Catherine Wang, Ying Welc, Steven S Ramos, Julian N Khanlou, Négar Kuro-O, Makoto Tidball, James G
Published in
Human molecular genetics
Duchenne muscular dystrophy (DMD) is a lethal muscle disease involving progressive loss of muscle regenerative capacity and increased fibrosis. We tested whether epigenetic silencing of the klotho gene occurs in the mdx mouse model of DMD and whether klotho silencing is an important feature of the disease. Our findings show that klotho undergoes mu...
Kim, Sun-Hong Shahani, Neelam Bae, Byoung-Ii Sbodio, Juan I Chung, Youjin Nakaso, Kazuhiro Paul, Bindu D Sawa, Akira
Published in
Human molecular genetics
p53 has been implicated in the pathophysiology of Huntington's disease (HD). Nonetheless, the molecular mechanism of how p53 may play a unique role in the pathology remains elusive. To address this question at the molecular and cellular biology levels, we initially screened differentially expressed molecules specifically dependent on p53 in a HD an...
Navein, Alice E Cooke, Esther J Davies, Jennifer R Smith, Terence G Wells, Lois H M Ohazama, Atsushi Healy, Christopher Sharpe, Paul T Evans, Sam L Evans, Bronwen A J
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Published in
Human molecular genetics
Mitochondrial dysfunction connects metabolic disturbance with numerous pathologies, but the significance of mitochondrial activity in bone remains unclear. We have, therefore, characterized the skeletal phenotype in the Opa3L122P mouse model for Costeff syndrome, in which a missense mutation of the mitochondrial membrane protein, Opa3, impairs mito...
Chen, Maxine M O'Mara, Tracy A Thompson, Deborah J Painter, Jodie N Attia, John Black, Amanda Brinton, Louise Chanock, Stephen Chen, Chu Cheng, Timothy Ht
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Published in
Human molecular genetics
Endometrial cancer is the most common gynecological malignancy in the developed world. Although there is evidence of genetic predisposition to the disease, most of the genetic risk remains unexplained. We present the meta-analysis results of four genome-wide association studies (4907 cases and 11 945 controls total) in women of European ancestry. W...
Bernstein, Alison I Lin, Yunting Street, R Craig Lin, Li Dai, Qing Yu, Li Bao, Han Gearing, Marla Lah, James J Nelson, Peter T
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Published in
Human molecular genetics
Alzheimer's disease (AD) is a chronic neurodegenerative disorder characterized by progressive deterioration of cognitive function. Pathogenesis of AD is incompletely understood; evidence suggests a role for epigenetic regulation, in particular the cytosine modifications 5-methylcytosine and 5-hydroxymethylcytosine (5hmC). 5hmC is enriched in the ne...
Baldwin, Katie R Godena, Vinay K Hewitt, Victoria L Whitworth, Alexander J
Published in
Human molecular genetics
Amyotrophic lateral sclerosis (ALS) is characterized by the degeneration of motor neurons resulting in a catastrophic loss of motor function. Current therapies are severely limited owing to a poor mechanistic understanding of the pathobiology. Mutations in a large number of genes have now been linked to ALS, including SOD1, TARDBP (TDP-43), FUS and...
Rowlatt, Amy Hernández-Suárez, Gustavo Sanabria-Salas, María Carolina Serrano-López, Martha Rawlik, Konrad Hernandez-Illan, Eva Alenda, Cristina Castillejo, Adela Soto, Jose Luis Haley, Chris S
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Published in
Human molecular genetics
DNA methylation (DNAm) has been linked to changes in chromatin structure, gene expression and disease. The DNAm level can be affected by genetic variation; although, how this differs by CpG dinucleotide density and genic location of the DNAm site is not well understood. Moreover, the effect of disease causing variants on the DNAm level in a tissue ...
Orlando, Giulia Law, Philip J Palin, Kimmo Tuupanen, Sari Gylfe, Alexandra Hänninen, Ulrika A Cajuso, Tatiana Tanskanen, Tomas Kondelin, Johanna Kaasinen, Eevi
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Published in
Human molecular genetics
To identify new risk loci for colorectal cancer (CRC), we conducted a meta-analysis of seven genome-wide association studies (GWAS) with independent replication, totalling 13 656 CRC cases and 21 667 controls of European ancestry. The combined analysis identified a new risk association for CRC at 2q35 marked by rs992157 (P = 3.15 × 10-8, odds ratio...
Husson, Hervé Moreno, Sarah Smith, Laurie A Smith, Mandy M Russo, Ryan J Pitstick, Rose Sergeev, Mikhail Ledbetter, Steven R Bukanov, Nikolay O Lane, Monica
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Published in
Human molecular genetics
Polycystic kidney diseases (PKDs) comprise a subgroup of ciliopathies characterized by the formation of fluid-filled kidney cysts and progression to end-stage renal disease. A mechanistic understanding of cystogenesis is crucial for the development of viable therapeutic options. Here, we identify CDK5, a kinase active in post mitotic cells, as a ne...
Hansen, Matthew E B Hunt, Steven C Stone, Rivka C Horvath, Kent Herbig, Utz Ranciaro, Alessia Hirbo, Jibril Beggs, William Reiner, Alexander P Wilson, James G
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Published in
Human molecular genetics
Leukocyte telomere length (LTL), which reflects telomere length in other somatic tissues, is a complex genetic trait. Eleven SNPs have been shown in genome-wide association studies to be associated with LTL at a genome-wide level of significance within cohorts of European ancestry. It has been observed that LTL is longer in African Americans than i...