Reset
Showing 20 of 1,126 academic articles

The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures

Xiang Tang, Guoqing Liu, Li Lin, Nong Xiao et al. • BMC Medical Genomics (2023)

Abstract Background Neurodevelopmental disorder with absent language and variable seizures (NEDALVS, # 618707) are characterized by delayed speech and motor development, ocular abnormalities, and seizures. NEDAVLS is an autosomal dominant d...

DOAJ Open Access (DOAJ) DOI: 10.1186/s12920-023-01630-8

Divergent biological consequences of APOE isoforms across industrialized and non-industrial environments.

Marina M Watowich, Rachel M Petersen, Layla Brassington, Audrey M Arner et al. • PLoS Genetics (2026)

The apolipoprotein ε4 (APOE ε4) isoform directly alters cholesterol and immune biology and is associated with an increased risk of neurodegenerative and cardiometabolic disease in industrialized settings; nevertheless, APOE ε4-which is ance...

DOAJ Open Access (DOAJ) DOI: 10.1371/journal.pgen.1012285

Genetic diversity in pointed gourd (Trichosanthes dioica) genotypes for fruit yield and quality traits under eastern plateau and hill region

ANKIT KUMAR SINHA, BHAVANA P, A K SINGH, H CHOUDHARY et al. • The Indian Journal of Agricultural Sciences (2024)

The experiment was conducted during summer seasons of 2021–22 and 2022–2023 at ICAR-Research Complex for Eastern Region, Farming System Research Centre for Hill and Plateau Region, Plandu, Ranchi, Jharkhand focused on assessing the genetic ...

DOAJ Open Access (DOAJ) DOI: 10.56093/ijas.v94i7.148891

Genetic impact of non-consanguineous marriages in Saudi Arabia.

Mohammed Alyahya, Taghrid Aloraini, Youseef Al-Harbi, Lamia Alsubaie et al. • Journal of Biochemical and Clinical Genetics (2022)

Background: Physicians and geneticists face challenges in making accurate diagnoses during clinical evaluations; affecting patients and clinicians. The aim of this study was to estimate the hit rate of the non-consanguineous population. Mor...

DOAJ Open Access (DOAJ) DOI: 10.24911/JBCGenetics/183-1664872492

Chromosome-level genome assembly and population genomics analysis of Camellia rubituberculata provide insights into adaptation to karst habitats

Chao Yan, Ming-tai An, Ming Tang, Xin-xiang Bai et al. • Plant Diversity (2026)

Karst flora confined to isolated ‘habitat islands’ evolve specialized adaptations and unique traits, serving as ideal models for investigating adaptive evolution and species diversification mechanisms. Camellia rubituberculata, endemic to t...

DOAJ Open Access (DOAJ) DOI: 10.1016/j.pld.2025.09.004

Comparative analysis of chemical toxicological studies of pregabalin in neuropathic pain management (review)

Nargiz Parkhatkyzy, Alma Shukirbekova, Zumrad Usmanalieva, Kundyzay Mirzakir et al. • Journal of Pharmacy & Pharmacognosy Research (2026)

Context: The use of pregabalin in neuropathic pain management has been increasingly associated with concerns regarding toxicity, particularly in cases of overdose, misuse, and co-exposure with central nervous system depressants. In parallel...

DOAJ Open Access (DOAJ) DOI: 10.56499/jppres_14.3.2550

Genome-based development of 15 microsatellite markers in fluorescent multiplexes for parentage testing in captive tigers

Xiao Zhao, Qiguan Qiu, Chang Li, Dongke Fu et al. • PeerJ (2020)

As one of the most endangered species, tiger (Panthera tigris) inbreeding has become an urgent issue to address. Using a microsatellite (short tandem repeat, STR) identification system, paternity testing may be helpful to avoid inbreeding i...

DOAJ Open Access (DOAJ) DOI: 10.7717/peerj.8939

A pilot study of mitochondrial genomic ancestry in admixed Brazilian patients with type 1 diabetes

Lívia Leite Ferreira, Anna Beatriz Rodrigues Gonçalves, Igor Josué Barbosa Adiala, Silvia Loiola et al. • Diabetology & Metabolic Syndrome (2024)

Abstract Interactions between multiple genes and environmental factors could be related to the pathogenesis of type 1 diabetes (T1D). The Brazilian population results from different historical miscegenation events, resulting in a highly div...

DOAJ Open Access (DOAJ) DOI: 10.1186/s13098-024-01342-8

Autism Spectrum Disorder and collective catering service: results of the pilot study FOOD-AUT

Maria Vittoria Conti, Sara Santero, Chiara Breda, Sara Basilico et al. • Frontiers in Nutrition (2024)

ObjectiveIndividuals with Autism Spectrum Disorder (ASD) often exhibit a low dietary diversity due to food selectivity that leads them to a marked preference for high-energy-density food, exposing them to risk of malnutrition. Despite these...

DOAJ Open Access (DOAJ) DOI: 10.3389/fnut.2023.1298469

Hospitalisations for physical abuse in infants and children less than 5 years, 2013‒2021: a multinational cohort study using administrative data from five European countries

Catherine Quantin, Jonathan Cottenet, Colleen Chambers, Natasha Kennedy et al. • International Journal of Population Data Science (2025)

Objectives Child physical abuse (CPA) is a global public health problem associated with lifelong negative consequences, yet reliable epidemiologic data are lacking. We did a multinational cohort study to analyse trends in CPA hospitalisatio...

DOAJ Open Access (DOAJ) DOI: 10.23889/ijpds.v10i3.3028

Evaluation of nutrients in bread: a systematic review

Zahra Aghalari, Hans-Uwe Dahms, Mika Sillanpää • Journal of Health, Population and Nutrition (2022)

Abstract Background A balanced and optimized amount of nutrients in bread, which is the main food in many countries, is necessary to maintain human health. Considering the importance of nutritional values of bread in the food basket of Iran...

DOAJ Open Access (DOAJ) DOI: 10.1186/s41043-022-00329-3

Nordiske sundhedsfremmende perspektiver på ældre menneskers deltagelse og tryghed

Marianne Mahler, Anne Clancy, Aud Johannessen, Johanne Lind et al. • Nordisk Tidsskrift for Helseforskning (2020)

Nordic Health Promotion Perspectives on Older Adults Participation and Sense og Security Demographic changes and the growing elderly population in Scandinavia provide an incentive to study Health Ageing in the Nordic Countries. The chose...

DOAJ Open Access (DOAJ) DOI: 10.7557/14.5176

Group-format, peer-facilitated mental health promotion interventions for students in higher education settings: a scoping review protocol

Carrie Brooke-Sumner, Yandisa Sikweyiya, Mercilene T Machisa, Pinky Mahlangu • BMJ Open (2024)

Introduction Young people in higher education face various stressors that can make them vulnerable to mental ill-health. Mental health promotion in this group therefore has important potential benefits. Peer-facilitated and group-format int...

DOAJ Open Access (DOAJ) DOI: 10.1136/bmjopen-2023-080629

Yoga Outcomes Get Assessed in Cystic Fibrosis (YOGA-CF): protocol of a multicentre interventional randomised controlled clinical trial—investigating effects of a 12-week yoga intervention for adults with cystic fibrosis

Adam P Wagner, Nicholas J Simmonds, Susan C Charman, P Scarborough et al. • BMJ Open Respiratory Research (2026)

Introduction Yoga is an emerging exercise choice for people with cystic fibrosis (CF), but evidence of its effect in this population is scarce, with a recent systematic review advocating for further research. Yoga Outcomes Get Assessed in C...

DOAJ Open Access (DOAJ) DOI: 10.1136/bmjresp-2025-003405

Lipid profile in elderly and centenarian subjects in Kazakhstan: a case-control study

Yu. Ganzhula, Zh. Borykbay, V. Tkachev, S. Urazova et al. • Central Asian Journal of Medical Hypotheses and Ethics (2024)

Introduction. The health of centenarians is a major focus in global studies. Dyslipidemia is directly linked to the risk of cardiovascular diseases, which pose a growing burden on healthcare due to the increasing elderly population. Studyin...

DOAJ Open Access (DOAJ) DOI: 10.47316/cajmhe.2024.5.3.04

Treatment and Disposal Methods of Concentrate Stream of Seawater Reverse Osmosis- A Review

Zakiya Tabassum and Rajalakshmi Mudbidre • Nature Environment and Pollution Technology (2021)

The exponentially multiplying population of the world demands increasing freshwater resources. Thelimited resources comprising less than 3% of the earth’s water resources are getting polluted at an alarming rate. To deal with this situation...

DOAJ Open Access (DOAJ) DOI: 10.46488/NEPT.2021.v20i04.003

Reproductive Biology of Female Pacific Halibut (Hippoglossus stenolepis) in the Gulf of Alaska

Teresa Fish, Teresa Fish, Nathan Wolf, Timothy Scott Smeltz et al. • Frontiers in Marine Science (2022)

Developing a robust understanding of Pacific halibut reproductive biology is essential to understanding the different components (e.g. maturity) that determine the reproductive output of the species and, therefore, for estimating the relati...

DOAJ Open Access (DOAJ) DOI: 10.3389/fmars.2022.801759

Assessing the impact of forest structure disturbances on the arboreal movement and energetics of orangutans—An agent-based modeling approach

Kirana Widyastuti, Kirana Widyastuti, Romain Reuillon, Romain Reuillon et al. • Frontiers in Ecology and Evolution (2022)

Agent-based models have been developed and widely employed to assess the impact of disturbances or conservation management on animal habitat use, population development, and viability. However, the direct impacts of canopy disturbance on th...

DOAJ Open Access (DOAJ) DOI: 10.3389/fevo.2022.983337