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A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review

Chengning Tan, Limeng Dai, Zhengqiong Chen, Wuchen Yang et al. • Frontiers in Genetics (2020)

Thrombocytopenia 2 (THC2) is one of the most prevalent forms of inherited thrombocytopenia. It is caused by a heterogeneous group of ANKRD26 gene mutation and shows a heterogeneous clinical and laboratory characteristics. We present a big C...

DOAJ Open Access (DOAJ) DOI: 10.3389/fgene.2020.00340

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)

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

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...

OPENALEX

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

Conservation Genetics

C. Anna Toline, John C. Avise, J. L. Hamrick • Ecology (1997)

Contributors. Prologue. 1. Introduction: The Scope of Conservation Genetics Part I: Case Histories with a Focus on Particular Taxonomic Groups. 2. Population Structure, Molecular Systematics and Forensic Identification of Whales and Dolphin...

OPENALEX DOI: https://doi.org/10.1890/0012-9658(1997)078[1288:cg]2.0.co;2

Experimental study on the factors influencing performance and emissions of hydrogen internal combustion engines

Wu Taoyang, Liu Jixu, Wu Chunling, Jing Xiaojun et al. • E3S Web of Conferences (2024)

Hydrogen internal combustion engines (H2-ICEs) have advantages such as clean combustion and zero carbon emissions, and have become one of the important technical routes for decarbonization in the internal combustion engine industry. In this...

DOAJ Open Access (DOAJ) DOI: 10.1051/e3sconf/202452201009

Anthropology Art and Aesthetics

(1992)

Abstract This collection of essays on anthropological approaches to art and aesthetics is the first in its field to be published for some time. In recent years a number of new galleries of non-Western art have been opened, many exhibitions ...

OPENALEX DOI: https://doi.org/10.1093/oso/9780198277330.001.0001

Anthropological Linguistics

William A. Foley • Wiley eBooks (2020)

Anthropological linguistics is the study of language within the wider context of culture. It is concerned with how humans employ communicative culturally meaningful, or semiotic practices, as resources to forge large and small, transient or...

OPENALEX DOI: https://doi.org/10.1002/9781405198431.wbeal0031.pub2

The Future of Visual Anthropology

Sarah Pink • Routledge eBooks (2006)

From an eminent author in the field, The Future of Visual Anthropology develops a new approach to visual anthropology and presents a groundbreaking examination of developments within the field and the way forward for the subdiscipline in th...

OPENALEX DOI: https://doi.org/10.4324/9780203003596

A History of Anthropology

Thomas Hylland Eriksen, Finn Sivert Nielsen • Pluto Press eBooks (2013)

This is a thoroughly updated and revised edition of a popular classic of modern anthropology. Avoiding geographical bias, the authors provide summaries of ‘Enlightenment’, ‘Romantic’ and ‘Victorian’ anthropology, from the cultural theories ...

OPENALEX Open Access DOI: https://doi.org/10.2307/j.ctt183gzx9

Social Anthropology of Technology

Bryan Pfaffenberger • Annual Review of Anthropology (1992)

At the onset of the 20th century, anthropologists such as Balfour, Marett, and Haddon could readily identify three spheres of strength in anthropological research: material culture, social organization, and physical anthropology (49). The s...

OPENALEX DOI: https://doi.org/10.1146/annurev.an.21.100192.002423