Results 101 to 110 of about 2,355,082 (334)

A working model for cytoplasmic assembly of H/ACA snoRNPs

FEBS Letters, EarlyView.
Dyskerin is the component of nuclear H/ACA ribonucleoproteins (RNPs) endowed with pseudouridine synthase catalytic activity. Two isoforms of human dyskerin have been characterized: the abundant Iso1, mainly nuclear, and the shorter Iso3, mainly cytoplasmic but occasionally imported into nuclei.
Alberto Angrisani, Maria Furia
wiley   +1 more source

Prion-induced neurotoxicity: Possible role for cell cycle activity and DNA damage response. [PDF]

, 2015
Protein misfolding neurodegenerative diseases arise through neurotoxicity induced by aggregation of host proteins. These conditions include Alzheimer's disease, Huntington's disease, Parkinson's disease, motor neuron disease, tauopathies and prion ...

core   +1 more source

C9orf72 ALS‐causing mutations lead to mislocalization and aggregation of nucleoporin Nup107 into stress granules

FEBS Letters, EarlyView.
Mutations in the C9orf72 gene represent the most common genetic cause of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Using patient‐derived neurons and C. elegans models, we find that the nucleoporin Nup107 is dysregulated in C9orf72‐associated ALS. Conversely, reducing Nup107 levels mitigates disease‐related changes.
Saygın Bilican, Yara Nabawi, William Hongyu Zhang, Dunja Petrovic, Markus Wehrmann, Sara Muñoz‐García, Seda Koyuncu, David Vilchez   +7 more
wiley   +1 more source

Genetics of Alzheimer's Disease [PDF]

Dementia and Neurocognitive Disorders, 2018
Alzheimer's disease (AD) related genes have been elucidated by advanced genetic techniques. Familial autosomal dominant AD genes founded by linkage analyses are APP, PSEN1, PSEN2, ABCA7, and SORL1. Genome-wide association studies have found risk genes such as ABCA7, BIN1, CASS4, CD33, CD2AP, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB5-HLA-DRB1 ...
openaire   +3 more sources

Novel and unscrutinized immune entities of the zebrafish gut

FEBS Letters, EarlyView.
Understudied cells of the zebrafish immune system include bona fide immune cells and epithelial (‐derived) cells with immune functions. Research focusing on zebrafish cells which demonstrate similarities to mammalian immune cell counterparts may help us understand the pathologies in which they are implicated. Currently available and advanced tools make
Audrey Inge Schytz Andersen‐Civil, Marine Mantel, Julia Soh, Serge Mostowy, Sylvia Brugman, Gilles Claude Vanwalleghem   +5 more
wiley   +1 more source

Genetics of neurodegenerative diseases [PDF]

Neurology Genetics, 2016
This issue contains a number of articles on neurodegenerative diseases, most of them genotypically analyzed with next-generation sequencing. Readers will find articles identifying potential mutations in new genes, articles examining different phenotypes associated with variation in the same gene, and a report showing an unusual phenotype associated ...
openaire   +3 more sources

From lactation to malignancy: A comparison between healthy and cancerous breast gland at single‐cell resolution reveals new issues for tumorigenesis

FEBS Letters, EarlyView.
Single‐cell RNA sequencing reveals an opposite role of SLPI in basal tumors based on metastatic spread, along with shared activation of specific regulons in cancer cells and mature luminal lactocytes, as well as downregulation of MALAT1 and NEAT1 in the latter.
Pietro Ancona, Carlo M. Bergamini, Carlo Ferrari, Stefano Volinia, Nicoletta Bianchi   +4 more
wiley   +1 more source

CONNECTION BETWEEN EPILEPSY AND AUTISM SPECTRUM DISORDER

Эпилепсия и пароксизмальные состояния, 2017
The role of epilepsy in developing autism spectrum disorders (ASD) is not well understood. According to some reports, epilepsy of early childhood is often found in patients with autism of early childhood.
N. N. Maslova, V. A. Skorobogatova, N. V. Yur’eva, N. E. Maslov   +3 more
doaj   +1 more source

Genetics of Cerebrovascular Disease [PDF]

Stroke, 2004
Stroke is a complex disease, with both genetic and environmental factors having a role in its pathogenesis. A review of past studies shows some evidence of genetic influences in the development of stroke. This is supported by studies of cardiovascular disease, which indicate major genetic influences at several levels including the development of risk ...
openaire   +4 more sources

Routes for breaching and protecting genetic privacy

, 2013
We are entering the era of ubiquitous genetic information for research, clinical care, and personal curiosity. Sharing these datasets is vital for rapid progress in understanding the genetic basis of human diseases.
A Acquisti, A Cavoukian, A Kong, A Machanavajjhala, A Narayanan, AD Johnson, AJ Pakstis, AK Manning, AL McGuire, Arvind Narayanan, B Fons, B Malin, B Malin, BA Malin, BM Henn, C Dwork, C Shannon, CD Huff, D Clayton, D He, D Zubakov, DJ Solve, DR Nyholt, DW Craig, EA Zerhouni, EE Schadt, EM Ramos, F Liu, G Church, H Lango Allen, H Li, HK Im, HS Venter, J Burn, J Gitschier, J Kaiser, J Kaye, J Kaye, J Lee, J Marchini, JE Lunshof, JH Park, JM Oliver, JP Roberts, K Benitez, K El Emam, K El Emam, K Silventoinen, KA Tryka, KB Jacobs, KS Kendler, L Kamm, L Sweeney, L Sweeney, LA Sweeney, LA Sweeney, LAP Kohn, LL Rodriguez, M Canim, M Gymrek, M Gymrek, M Kantarcioglu, M Kayser, MD Mailman, N Chatterjee, N Homer, NN Taleb, P Bohannon, P Kwok, P Ohm, P Paillier, PM Visscher, R Braun, R Drmanac, R Khan, R Noumeir, RL Bennett, S Byers, S McClure, S Sankararaman, S Walsh, SE Brenner, SF Terry, SH Friend, T Lumley, TE King, TE King, V Bafna, W Fu, W Hartzog, WG Hill, WW Lowrance, XL Ou, Yaniv Erlich, Z Lin   +94 more
core   +1 more source