Results 71 to 80 of about 1,224,700 (304)

Population Structure Shapes Copy Number Variation in Malaria Parasites. [PDF]

, 2015
If copy number variants (CNVs) are predominantly deleterious, we would expect them to be more efficiently purged from populations with a large effective population size (Ne) than from populations with a small Ne. Malaria parasites (Plasmodium falciparum)
Amambua-Ngwa, Alfred, Anderson, Tim JC, Branch, Oralee H, Cheeseman, Ian H, Conway, David J, De Donato, Marcos, Dondorp, Arjen, Ferdig, Michael T, Mayxay, Mayfong, Mesia, Lastenia Ruiz, Miller, Becky, Nair, Shalini, Newton, Paul, Nkhoma, Standwell C, Nosten, François, Rodulfo, Hectorina, Tan, Asako, Tan, John C   +17 more
core   +1 more source

Copy number variation in Parkinson's disease [PDF]

Genome Medicine, 2010
A central theme of human genetic studies is to understand genomic variation and how this underlies the inherited basis of disease. Genomic variation can provide increased biological understanding of disease processes, which is necessary to develop future treatments.
Toft, Mathias, Ross, Owen A
openaire   +2 more sources

Copy Number Variations in Neuropsychiatric Disorders

International Journal of Molecular Sciences, 2023
Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances in recent years have improved our understanding of the genetic architecture of the major neuropsychiatric disorders and the genetic loci involved.
Gergely Büki, Kinga Hadzsiev, Judit Bene   +2 more
openaire   +2 more sources

Prognosis of Long‐Term Continuous Renal Replacement Therapy and the Impact of Combined Continuous Intravenous Sodium Infusion Therapy

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Patients requiring long‐term continuous renal replacement therapy (CRRT) generally have poor prognoses. This study evaluated whether adding continuous intravenous sodium infusion (cIVNa) is associated with improved hemodynamics and outcomes in patients undergoing long‐term CRRT for ≥ 7 days.
Akinori Yamaguchi, Atsuyoshi Mita, Kosuke Sonoda, Makoto Harada, Koji Hashimoto, Hiroshi Imamura, Yuji Kamijo   +6 more
wiley   +1 more source

Genome-wide copy number variation study in anorectal malformations [PDF]

, 2013
Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity.
Baum, L, Chan, IHY, Chang, T, Cheng, G, Cherny, SS, Chung, HY, Cui, L, Garcia-Barcelo, MM, Kwan, P, Lau, YL, Liu, JJ, Liu, X, Lui, VCH, Miao, X, Ng, CL, Ngan, ESW, Ren, YQ, Sham, PC, So, MT, Sun, LD, Sun, XB, Tam, PKH, Tang, CSM, Tang, WK, Wang, HL, Wang, RY, Wong, EHM, Wong, KKY, Xia, JL, Yang, W, Yin, XY, Yip, BHK, Yuan, ZW, Zhang, R, Zhang, SW, Zhang, XJ, Zuo, XB   +36 more
core   +1 more source

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

FEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva, Ariann E. Mendoza‐Martínez, P. Abril Medina‐Flores, Carlos Campero‐Basaldua, Alexander DeLuna, Soledad Funes   +5 more
wiley   +1 more source

RETROSPECTIVE ANALYSIS OF ALPHA GLOBIN COPY NUMBER VARIATIONS DETERMINED BY MLPA IN THE TRAKYA REGION

İstanbul Tıp Fakültesi Dergisi, 2021
Objective: Alpha thalassemia is a common type of hemoglobinopathy that occurs as a result of deletions or point mutations in the alpha globin gene cluster.
Selma Demir, Hakan Gürkan, Damla Eker, Sinem Yalçıntepe, Emine İkbal Atlı, Engin Atlı   +5 more
doaj   +1 more source

DNA Copy Number Variation in Autism [PDF]

, 2009
Autism is a childhood neurodevelopmental and psychiatric disorder that involves the impairment of social skills and communication. The genetics behind the inheritance and susceptibility of this disorder are not well known but have recently been studied ...
Adur, Ashwin
core  

Frequent expansion of Plasmodium vivax Duffy Binding Protein in Ethiopia and its epidemiological significance. [PDF]

, 2019
Plasmodium vivax invasion of human erythrocytes depends on the Duffy Binding Protein (PvDBP) which interacts with the Duffy antigen. PvDBP copy number has been recently shown to vary between P. vivax isolates in Sub-Saharan Africa. However, the extent of
Ford, Anthony, Gunalan, Karthigayan, Hamid, Muzamil MA, Hostetler, Jessica B, Janies, Daniel A, Kepple, Daniel, Lo, Eugenia, Miller, Louis H, Pearson, Richard D, Rayner, Julian C, Yan, Guiyun, Yewhalaw, Delenasaw   +11 more
core   +2 more sources

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source