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Identification and Functional Assessment of the First Placental Adhesin of Treponema pallidum That May Play Critical Role in Congenital Syphilis

Shekerah Primus, Sandra C. Rocha, Lorenzo Giacani, Lorenzo Giacani et al. • Frontiers in Microbiology (2020)

Syphilis is a global, re-emerging sexually transmitted infection and congenital syphilis remains a major cause of adverse pregnancy outcomes due to bacterial infection in developing nations with a high rate of fetus loss. The molecular mech...

DOAJ Open Access (DOAJ) DOI: 10.3389/fmicb.2020.621654

Generation of human induced pluripotent stem cell line MHHi040-A from a female Fabry disease patient carrying c.644A>G missense mutation

Carla Borisch, Nick Heise, Kristina Sonnenschein, Nataliya Di Donato et al. • Stem Cell Research (2026)

Fabry disease (FD) is an X-linked, monogenic lysosomal storage disorder, caused by mutations in the GLA gene. GLA encodes the lysosomal hydrolase alpha-galactosidase A and enzyme deficiency leads to accumulation of its substrate globotriaos...

DOAJ Open Access (DOAJ) DOI: 10.1016/j.scr.2026.104064

Synergistic Effects of Resveratrol and Temozolomide Against Glioblastoma Cells: Underlying Mechanism and Therapeutic Implications

Liu Y, Song X, Wu M, Wu J et al. • Cancer Management and Research (2020)

Yusi Liu, Xue Song, Moli Wu, Jiao Wu, Jia Liu Liaoning Laboratory of Cancer Genetics and Epigenetics and Department of Cell Biology, College of Basic Medical Sciences, Dalian Medical University, Dalian, People’s Republic of ChinaCorre...

DOAJ Open Access (DOAJ)

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

Functional annotation of the human retinal pigment epithelium transcriptome

Gorgels Theo GMF, van der Spek Peter J, Verkerk Annemieke JMH, Essing Anke HW et al. • BMC Genomics (2009)

Abstract Background To determine level, variability and functional annotation of gene expression of the human retinal pigment epithelium (RPE), the key tissue involved in retinal diseases like age-related macular degeneration and retinitis ...

DOAJ Open Access (DOAJ) DOI: 10.1186/1471-2164-10-164

Genomic evolution and stability of the mcr-1-harboring IncI2 plasmid in the presence and absence of colistin

Cong Shen, Meina Wu, Minxuan Su, Hao Wu et al. • BMC Genomics (2025)

Abstract Background The emergence of plasmid-mediated colistin resistance, primarily driven by the mcr-1 gene, represents a major global health threat. IncI2 plasmids, one of the leading carriers of mcr-1, have been frequently recovered fro...

DOAJ Open Access (DOAJ) DOI: 10.1186/s12864-025-12325-y

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

Families, kinship and genetics

Martin Richards • Cambridge University Press eBooks (1996)

I am the family face; Flesh perishes, I live on, Projecting trait and trace Through time to times anon, And leaping from place to place Over oblivion. Thomas Hardy , 1840–1928: Heredity. Introduction Genetics concerns families and kinship. ...

OPENALEX DOI: https://doi.org/10.1017/cbo9780511570049.014

Reproduction and the Reduction of Genetics

James R. Griesemer • Cambridge University Press eBooks (2000)

In this essay I develop a new, unified perspective on genetics, development, and reproduction. I suggest a heuristic use of theory reduction to address an issue of contemporary theoretical importance: the framing of a theory of developmenta...

OPENALEX DOI: https://doi.org/10.1017/cbo9780511527296.013

Principles of Population Genetics.

R. M. Cormack, Daniel L. Hartl, Andrew G. Clark • Biometrics (1990)

Genetic and Phenotypic Variation.- Organisation of Genetic Variation.- Random Genetic Drift.- Mutation and the Neutral Theory.- Darwinian Selection.- Inbreeding, Population Subdivision, and Migration.- Molecular Population Genetics.- Evolut...

OPENALEX DOI: https://doi.org/10.2307/2531471

The Genetics of Schizophrenia

Patrick F. Sullivan • PLoS Medicine (2005)

Research into the etiology of schizophrenia, particularly the possible genetic basis, has never been as interesting and as provocative as in the past three years. Sullivan looks critically at the key research....

OPENALEX cc-by DOI: https://doi.org/10.1371/journal.pmed.0020212 PMC: 1181880