Recent Resources on Genetics (Compiled 2014)


The following collection of articles was assembled during 2014 as a contribution to a bulletin intended to be produced specially on behalf of the West Midlands Current Awareness Group.

The Bibliographic Citations

Wang, XB. Cui, NH. Gao, JJ. [et al] (2014). Angiotensin-converting enzyme gene polymorphisms and risk for sporadic Alzheimer’s Disease: a meta-analysis. Journal of Neural Transmission. May 23rd 2014. [Epub ahead of print]. Full Text Link.

Liu, Y. Yu, JT. Wang, HF. [et al] (2014). APOE genotype and neuroimaging markers of Alzheimer’s Disease: systematic review and meta-analysis. Journal of Neurology, Neurosurgery and Psychiatry. May 16th 2014. [Epub ahead of print]. Full Text Link.

Rohn, TT. Day, RJ. Sheffield, CB. [et al] (2014). Apolipoprotein E pathology in vascular dementia. International Journal of Clinical and Experimental Pathology. February 15th 2014; 7(3): 938-47. eCollection 2014. Full Text Link.

Davidson, YS. Barker, H. Robinson, AC. [et al] (2014). Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathologica Communications. June 20th 2014; 2: 70. Full Text Link.

Yokoyama, JS. Sirkis, DW. Miller, BL. (2014). C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity. American Journal of Neurodegenerative Disease. March 28th 2014; 3(1): 1-18. Review. Full Text Link.

Qina, T. Sanjo, N. Hizume, M. [et al] (2014). Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene. BMJ Open. May 2014 16; 4(5): e004968. Full Text Link.

Zou, Z. Liu, C. Che, C. [et al] (2014). Clinical genetics of Alzheimer’s Disease. Biomedical Research International. 2014; 291862. Full Text Link.

Grigsby, J. Cornish, K. Hocking, D. [et al] (2014). The cognitive neuropsychological phenotype of carriers of the FMR1 premutation. Journal of Neurodevelopmental Disorders. 2014; 6(1): 28. Epub July 30th 2014. Review. Full Text Link.

Narayanan, M. Huynh, JL. Wang, K. [et al] (2014). Common dysregulation network in the human prefrontal cortex underlies two neurodegenerative diseases. Molecular Systems Biology. July 30th 2014; 10(7): 743. Full Text Link.

Minocherhomji, S. Hansen, C. Kim, HG. [et al] (2014). Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia. Human Molecular Genetics. July 1st 2014. [Epub ahead of print]. Full Text Link.

Stoica, R. De Vos, KJ. [and] Paillusson, S. [et al] (2014. ER-mitochondria associations are regulated by the VAPB-PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43. Nature Communications. June 3rd 2014; 5: 3996. Full Text Link.

Sassi, C. Guerreiro, R. Gibbs, R. [et al] (2014). Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer’s Disease. Neurobiology of Aging. October 2014; 35(10): 2422. e13-6. Full Text Link.

Wang, X. Wang, H. Li, H. [et al] (2014). Frequency of the apolipoprotein E ε4 allele in a memory clinic cohort in Beijing: a naturalistic descriptive study. PLoS One. June 10th 2014; 9(6): e99130. Full Text Link.

Zhou, Y. Liu, S. Oztürk, A. [et al] (2014). FUS-regulated RNA metabolism and DNA damage repair: implications for amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis. Rare Diseases. June 12th 2014; 2: e29515. Full Text Link.

Escott-Price, V. Bellenguez, C. [and] Wang, LS. [et al] (2014). Gene-wide analysis detects two new susceptibility genes for Alzheimer’s disease. PLoS One. One, June 12th 2014, Vol.9(6), pp.e94661. Full Text Link

Bras, J. Guerreiro, R. Darwent, L. [et al] (2014). Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Human Molecular Genetics. June 27th 2014. [Epub ahead of print]. Full Text Link.

Linnertz, C. Lutz, MW. Ervin, JF. [et al] (2014). The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer’s disease. Human Molecular Genetics. April 28th 2014. [Epub ahead of print]. Full Text Link.

Nombela, C. Rowe, JB. Winder-Rhodes, SE. [et al]; the ICICLE-PD Study Group, Barker RA. (2014). Genetic impact on cognition and brain function in newly diagnosed Parkinson’s Disease: ICICLE-PD study. Brain. July 30th 2014. [Epub ahead of print]. Full Text Link.

Barman, A. Assmann, A. Richter, S. [et al] (2014). Genetic variation of the RASGRF1 regulatory region affects human hippocampus-dependent memory. Frontiers in Human Neuroscience. April 29th 2014; 8: 260. Full Text Link.

Bagyinszky, E. Youn, YC. An, SS. [et al] (2014). The genetics of Alzheimer’s Disease. Clinical Interventions in Aging. April 1st 2014; 9: 535-51. Full Text Link.

Williams, SR. Yang, Q. Chen, F. [et al]; Genomics and Randomized Trials Network; Framingham Heart Study (2014). Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke. PLoS Genetics. March 20th 2014; 10(3): e1004214. Full Text Link.

Livesey, FJ. (2014). Human stem cell models of dementia. Human Molecular Genetics. June 16th 2014. [Epub ahead of print]. Review. Full Text Link.

Lambert, JC. Ibrahim-Verbaas, CA. [and] Harold, D. [et al]; European Alzheimer’s Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer’s Disease; Alzheimer’s Disease Genetic Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology. (2013). Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease. Nature Genetics. December 2013; 45(12): 1452-8. Full Text Link.

Woo, D. Falcone, GJ. Devan, WJ. [et al]; International Stroke Genetics Consortium (2014). Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage. American Journal of Human Genetics. April 3rd 2014; 94(4): 511-21. Full Text Link.

Wang, T. (2014). Meta-analysis of PvuII, XbaI variants in ESR1 gene and the risk of Alzheimer’s Disease: The regional European difference. Neuroscience Letters. June 27th 2014; 574C: 41-46. Full Text Link.

Banzhaf-Strathmann, J. Benito, E. [and] May, S. [et al] (2014). MicroRNA-125b induces tau hyperphosphorylation and cognitive deficits in Alzheimer’s disease. EMBO Journal. August 1st 2014; 33(15): 1667-80. Full Text Link.

Koh, W. Pan, W. Gawad, C. [et al] (2014). Noninvasive in vivo monitoring of tissue-specific global gene expression in humans. Proceedings of the National Academy of Sciences of the United States of America. May 20th 2014; 111(20): 7361-6. Full Text Link.

Traylor, M. Mäkelä, KM. Kilarski, LL. [et al]; METASTROKE, International Stroke Genetics Consortium, Wellcome Trust Case Consortium 2 (WTCCC2) (2014). A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach. PLoS Genetics. July 31st 2014; 10(7): e1004469. Full Text Link.

Wang, Y. Thinakaran, G. Kar, S. (2014). Overexpression of the IGF-II/M6P receptor in mouse fibroblast cell lines differentially alters expression profiles of genes involved in Alzheimer’s Disease-related pathology. PLoS One. May 20th 2014; 9(5): e98057. Full Text Link.

Tsika, E. Glauser, L. Moser, R. [et al] (2014). Parkinson’s disease-linked mutations in VPS35 induce dopaminergic neurodegeneration. Human Molecular Genetics. September 1st 2014; 23(17): 4621-38. Full Text Link.

Bennion Callister, J. [and] Pickering-Brown, SM. (2014) Pathogenesis / genetics of frontotemporal dementia and how it relates to ALS. Experimental Neurology. June 8th 2014. [Epub ahead of print]. Review. Full Text Link.

Messa, M. Colombo, L. Del Favero, E. [et al] (2014). The peculiar role of the A2V mutation in amyloid-β (Aβ) 1-42 molecular assembly. Journal of Biological Chemistry. July 18th 2014.

Coppedè, F. Tannorella, P. Tognoni, G. [et al] (2014). A pilot study evaluating the contribution of SLC19A1 (RFC-1) 80G>a polymorphism to Alzheimer’s Disease in Italian Caucasians. Biomedical Research International. 2014; 608104. Full Text Link.

Villeneuve, S. Brisson, D. Marchant, NL. [et al] (2014). The potential applications of Apolipoprotein E in personalized medicine. Frontiers in Aging Neuroscience. July 8th 2014; 6: 154. Review. Full Text Link.

Youn, YC. Bagyinszky, E. Kim, H. [et al] (2014). Probable novel PSEN2 Val214Leu mutation in Alzheimer’s Disease supported by structural prediction. BMC Neurology. May 15th 2014; 14: 105. Full Text Link.

Burgos, K. Malenica, I. Metpally, R. [et al] (2014). Profiles of extracellular miRNA in cerebrospinal fluid and serum from patients with Alzheimer’s and Parkinson’s Diseases correlate with disease status and features of pathology. PLoS One. May 5th 2014; 9(5): e94839. Full Text Link.

Sheng, J. Su, L. Xu, Z. [et al] (2014). Progranulin polymorphism rs5848 is associated with increased risk of Alzheimer’s Disease. Gene. June 1st 2014; 542(2): 141-5. Full Text Link.

van der Zee, J. Van Langenhove, T. Kovacs, GG. [et al] Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathologica. September 2014; 128(3): 397-410. Full Text Link.

Alvarim, LT. Nucci, LP. Mamani, JB. [et al] (2014). Therapeutics with SPION-labeled stem cells for the main diseases related to brain aging: a systematic review. International Journal of Nanomedicine. August 11th 2014; 9: 3749-3770. Review. Full Text Link.

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