Results 91 to 100 of about 2,648,537 (369)

Genetics of common polygenic ischaemic stroke: current understanding and future challenges. [PDF]

, 2011
Stroke is the third commonest cause of death and the major cause of adult neurological disability worldwide. While much is known about conventional risk factors such as hypertension, diabetes and incidence of smoking, these environmental factors only ...
Bevan, S, Markus, HS
core   +3 more sources

Expectile Neural Networks for Genetic Data Analysis of Complex Diseases [PDF]

arXiv, 2020
The genetic etiologies of common diseases are highly complex and heterogeneous. Classic statistical methods, such as linear regression, have successfully identified numerous genetic variants associated with complex diseases. Nonetheless, for most complex diseases, the identified variants only account for a small proportion of heritability.
arxiv  

Ablation of LRP6 in alpha‐smooth muscle actin‐expressing cells abrogates lung inflammation and fibrosis upon bleomycin‐induced lung injury

FEBS Letters, EarlyView.
Low‐density lipoprotein receptor‐related protein 6 (LRP6) is a key receptor for the Wnt antagonist Dickkopf1 (DKK1). DKK1 protein expression is induced in a bleomycin (BLM)‐induced lung injury model. We show that DKK1 induces proinflammatory and profibrotic genes in lung fibroblasts.
Eun‐Ah Sung, Mikhail G. Dozmorov, SuJeong Song, Theingi Aung, Min Hee Park, Patricia J. Sime, Wook‐Jin Chae   +6 more
wiley   +1 more source

Association of Genetic Markers with CSF Oligoclonal Bands in Multiple Sclerosis Patients [PDF]

, 2013
Objective:to explore the association between genetic markers and Oligoclonal Bands (OCB) in the Cerebro Spinal Fluid (CSF) of Italian Multiple Sclerosis patients.Methods:We genotyped 1115 Italian patients for HLA-DRB1*15 and HLA-A*02.
Andreassen, Bettina Kulle, Annovazzi, Pietro, Barcellos, L., Barizzone, Nadia, Benedetti, Maria D., Bergamaschi, Roberto, Booth, D., Capra, Ruggero, Caputo, Domenico, Cavalla, Paola, Cavallo, Roberto, Celius, Elisabeth Gulowsen, Colombo, Bruno, Comabella, M., Comi, Giancarlo, Compston, A., Coniglio, Gabriella, Cordera, Susanna, Cusi, Daniele, D'Alfonso, Sandra, De Jager, P., Di Sapio, Antonella, Dubois, Bénédicte, Esposito, Federica, Fontaine, B., Galimberti, Daniela, Ghezzi, Angelo, Goris, An, Guerini, Franca R., Hafler, D., Haines, J., Harbo, Hanne F., Hauser, S. L., Hawkins, C., Hemmer, B., Hillert, J., Ivinson, A., Kockum, Ingrid, Leone, Maurizio A., Liberatore, Giuseppe, Lucenti, Ausiliatrice, Lupoli, Sara, Martin, Rossella, Martinelli Boneschi, F., Martinelli, Vittorio, Martinelli-Boneschi, Filippo, Mccauley, J. L., Mero, Inger L., Moiola, Lucia, Myhr, Kjell-Morten, Naldi, Paola, Oksenberg, J., Olsson, Tomas, Oturai, A., Oturai, Annette Bang, Patsopoulos, N., Pericak-Vance, M., Radaelli, Marta, Rodegher, Mariaemma, Rossi, Paolo, Rosso, Gabriella, Saarela, J., Salvetti, Marco, Sawcer, S., Scarpini, Elio, Spurkland, A., Stewart, G., Søndergaard, Helle Bach, Zipp, F.   +68 more
core   +1 more source

Detection boundary and Higher Criticism approach for rare and weak genetic effects [PDF]

Annals of Applied Statistics 2014, Vol. 8, No. 2, 824-851, 2014
Genome-wide association studies (GWAS) have identified many genetic factors underlying complex human traits. However, these factors have explained only a small fraction of these traits' genetic heritability. It is argued that many more genetic factors remain undiscovered.
arxiv   +1 more source

Characteristics of the Kelch domain containing (KLHDC) subfamily and relationships with diseases

FEBS Letters, EarlyView.
The Kelch protein superfamily includes 63 members, with the KLHDC subfamily having 10 proteins. While their functions are not fully understood, recent advances in KLHDC2's structure and role in protein degradation have highlighted its potential for drug development, especially in PROTAC therapies.
Courtney Pilcher, Paula Armina V. Buco, Jia Q. Truong, Paul A. Ramsland, Monique F. Smeets, Carl R. Walkley, Jessica K. Holien   +6 more
wiley   +1 more source

Insertion of the FeB cofactor in cNORs lacking metal inserting chaperones

FEBS Letters, EarlyView.
Nitric oxide reductase is an enzyme found in the bacterial denitrification pathway. The NOR active site contains a non‐heme iron, often, but not always inserted with the assistance of chaperones. Here, we study the insertion of FeB in the subfamily of cNORs lacking chaperones and found a putative channel, conserved in the family, perhaps enabling the ...
Sofia Appelgren, Pia Ädelroth
wiley   +1 more source

Assessment of relatedness between neurocan gene as bipolar disorder susceptibility locus and schizophrenia

Biomolecules & Biomedicine, 2012
Large scale genetic association meta-analyses showed that neurocan (NCAN) gene polymorphism rs1064395 is susceptibility locus for bipolar disorder.
Lilijana Oruč, Lejla Kapur-Pojskić, Jasmin Ramić, Naris Pojskić, Kasim Bajrović   +4 more
doaj   +1 more source

A simulations approach for meta-analysis of genetic association studies based on additive genetic model [PDF]

, 2016
Genetic association studies are becoming an important component of medical research. To cite one instance, pharmacogenomics which is gaining prominence as a useful tool for personalized medicine is heavily reliant on results from genetic association studies.
arxiv   +1 more source

Structural and mechanistic basis for the regulation of the chloroplast signal recognition particle by (p)ppGpp

FEBS Letters, EarlyView.
LHCPs are transported to the thylakoid membrane via the (cp)SRP pathway. This process involves a transit complex of (cp)SRP43, (cp)SRP54 and LHCP, which interacts with (cp)FtsY and Alb3 at the membrane. GTP hydrolysis by (cp)SRP54 and (cp)FtsY triggers complex dissociation.
Victor Zegarra, Paul Weiland, Pauline Anka Plitzko, Julia Thiery, Laura Czech, Felix Willmund, Patricia Bedrunka, Gert Bange   +7 more
wiley   +1 more source