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Research advances in Apert syndrome

Satrupa Das, Anjana Munshi • Journal of Oral Biology and Craniofacial Research (2018)

Apert syndrome is one of the several genetic syndromes associated with craniosynostosis, a condition that includes premature fusion of one or multiple cranial sutures. There has been significant clinical variation among different sutural sy...

DOAJ Open Access (DOAJ) DOI: 10.1016/j.jobcr.2017.05.006

A Comparative Analysis of the Chloroplast Genomes of Four Polygonum Medicinal Plants

Shuai Guo, Shuai Guo, Xuejiao Liao, Xuejiao Liao et al. • Frontiers in Genetics (2022)

Polygonum is a generalized genus of the Polygonaceae family that includes various herbaceous plants. In order to provide aid in understanding the evolutionary and phylogenetic relationship in Polygonum at the chloroplast (cp) genome-scale l...

DOAJ Open Access (DOAJ) DOI: 10.3389/fgene.2022.764534

Causal relationship between genetic-predicted uric acid and cervical cancer risk: evidence for nutritional intervention on cervical cancer prevention

Chunge Cao, Dajun Cai, Hao Liu, Xia Zhang et al. • Frontiers in Nutrition (2024)

IntroductionThe relationship between serum uric acid (SUA) and cervical cancer is inconclusive. This study aims to investigate the causal relationship between SUA levels and cervical cancer incidence, and to evaluate the potential role of n...

DOAJ Open Access (DOAJ) DOI: 10.3389/fnut.2024.1464046

HumanViCe: Host ceRNA network in virus infected cells in human

Suman eGhosal, Shaoli eDas, Rituparno eSen, Jayprokas eChakrabarti et al. • Frontiers in Genetics (2014)

Host-virus interaction via host cellular components has been an important field of research in recent times. RNA interference mediated by short interfering RNAs and microRNAs (miRNA), is a widespread anti-viral defence strategy. Importantly...

DOAJ Open Access (DOAJ) DOI: 10.3389/fgene.2014.00249

Effectiveness of Ultrasound Imaging in Assessing the Palpation Skills of Rotating Physicians

Peizhen Huang, Bin Zheng, Shan Liu, Lin Xu et al. • Frontiers in Genetics (2022)

As an important means of physical examination, palpation is usually limited to the physical examination before surgery and used as an auxiliary method for disease diagnosis in the field of surgery. In practice, palpation is also used in eve...

DOAJ Open Access (DOAJ) DOI: 10.3389/fgene.2022.894716

Epigenetic alterations in mesenchymal stem cells by osteosarcoma-derived extracellular vesicles

Bettina Mannerström, Roman Kornilov, Ahmed G. Abu-Shahba, Iftekhar M. Chowdhury et al. • Epigenetics (2019)

Extracellular vesicles (EVs) are central to intercellular communication and play an important role in cancer progression and development. Osteosarcoma (OS) is an aggressive bone tumour, characterized by the presence of malignant mesenchymal...

DOAJ Open Access (DOAJ) DOI: 10.1080/15592294.2019.1585177

CRISPR/Cas9 for hepatitis B virus infection treatment

Bo Cai, Shixue Chang, Yuhan Tian, Shuai Zhen • Immunity, Inflammation and Disease (2023)

Abstract Hepatitis B virus (HBV) infection remains a global health challenge. Despite the availability of effective preventive vaccines, millions of people are at risk of cirrhosis and hepatocellular carcinoma. Current drug therapies inhibi...

DOAJ Open Access (DOAJ) DOI: 10.1002/iid3.866

Monogenic obesity due to MC4R deficiency: lessons from a multigenerational case

Eleni Z. Giannopoulou, Stefanie Zorn, Melanie Schirmer, Stephanie Brandt-Heunemann et al. • Molecular and Cellular Pediatrics (2026)

Abstract Background Melanocortin 4 receptor (MC4R) deficiency is the most common monogenic cause of obesity, yet remains underdiagnosed. Patients with monogenic obesity often undergo a frustrating diagnostic and therapeutic odyssey of years...

DOAJ Open Access (DOAJ) DOI: 10.1186/s40348-025-00214-z

Abnormal X : autosome ratio, but normal X chromosome inactivation in human triploid cultures

Norwood Thomas H, Luo Ping, Varadarajan Kartik R, Gartler Stanley M et al. • BMC Genetics (2006)

Abstract Background X chromosome inactivation (XCI) is that aspect of mammalian dosage compensation that brings about equivalence of X-linked gene expression between females and males by inactivating one of the two X chromosomes (Xi) in nor...

DOAJ Open Access (DOAJ) DOI: 10.1186/1471-2156-7-41

Behavioral genetics, a primer

Robert J. Plomin, J. C. DeFries, G. E. McClearn (1980)

"Behavioural Genetics", fourth edition provides an overview of human and animal behavioural genetics that is designed to introduce students in the behavioural, biological, and social sciences to the field. With the addition of new chapters,...

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Introduction to Conservation Genetics

Richard Frankham, Jonathan D. Ballou, David A. Briscoe • Cambridge University Press eBooks (2010)

This impressive author team brings the wealth of advances in conservation genetics into the new edition of this introductory text, including new chapters on population genomics and genetic issues in introduced and invasive species. They con...

OPENALEX DOI: https://doi.org/10.1017/cbo9780511809002

A history of genetics

A. H. Sturtevant (1965)

Note from the Publishers Introduction Author's Preface Chapter 1: Before Mendel Chapter 2: Mendel Chapter 3: 1866 to 1900 Chapter 4: The Rediscovery Chapter 5: Genes and Chromosomes Chapter 6: Linkage Chapter 7: The Fly Room Chapter 8: Deve...

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Genetics of MDS

Seishi Ogawa • Blood (2019)

Our knowledge about the genetics of myelodysplastic syndromes (MDS) and related myeloid disorders has been dramatically improved during the past decade, in which revolutionized sequencing technologies have played a major role. Through inten...

OPENALEX Open Access DOI: https://doi.org/10.1182/blood-2018-10-844621 PMC: 6587668

Genetics of Obesity

Claude Bouchard, Louis Përusse • Annual Review of Nutrition (1993)

Genetics of Human Obesities: Introductory Notes (C. Bouchard). Etiology and Prevalence of Obesity (G.A. Bray). Nongenetic Determinants of Obesity and Body Fat Topography (J.O. Hill, M.J. Pagliassotti, and J.C. Peters). Overview of the Adopt...

OPENALEX DOI: https://doi.org/10.1146/annurev.nu.13.070193.002005