We look at how next-generation sequencing has advanced research across different disease fields, and the growing importance of open access genomic databases.
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| http://dx.doi.org/10.2144/btn-2019-0011 | DOI Listing |
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Association between ABCB4 variants and intrahepatic cholestasis of pregnancy.
Sci Rep
January 2025
Department of Gynecology and Obstetrics, Yijishan Hospital of Wannan Medical College, Wuhu, Anhui, People's Republic of China.
The ABCB4 gene encodes multidrug resistance protein 3(MDR3), which is a phosphatidylcholine(PC) transfer enzyme that transfers lecithin from the inner part of the phospholipid bilayer to the extracellular bile. The occurrence of intrahepatic cholestasis of pregnancy(ICP) is closely related to ABCB4 variants, but there is limited research on this topic in southern Anhui, China. We sequenced ABCB4 in pregnant women with ICP and healthy pregnant women to explore the relationship.
View Article and Find Full Text PDFAssociation of Epstein-Barr Virus and its clinical relevance in Human Papillomavirus-negative oral squamous cell carcinoma: A cohort study from South India.
Arch Oral Biol
January 2025
Department of Microbiology, KS Hegde Medical Academy, Nitte (Deemed to be University), Deralakatte, Mangaluru 575018, India. Electronic address:
Objective: The study assessed the prevalence and clinical implications of Epstein Barr Virus (EBV)-positive but Human Papillomavirus (HPV)-negative oral squamous cell carcinoma (OSCC) in a tertiary care hospital setting. The overall goal was to elucidate the potential impact of EBV on OSCC disease progression and prognosis.
Design: A total of 134 surgically resected and histopathologically confirmed OSCC tumor biopsies were collected from a tertiary care hospital.
Neonatal Familiar Cleidocranial Dysplasia: A Case Report.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFBiallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality.
Gynecol Endocrinol
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Department of Reproductive Medicine, the Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China.
Oocyte maturation arrest (OMA) may occur at different stages, including the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII). A total maturation arrest of human oocytes is rarely observed during fertilization (IVF). We have identified a case of infertile female for whom all oocytes fail to mature and are arrested at MI.
View Article and Find Full Text PDFTicks and Tick-Borne Pathogens in Wild Animals and Birds from Two Rehabilitation Facilities in Greece.
Pathogens
December 2024
Diagnostic Department and Public Health Laboratories, Hellenic Pasteur Institute, 11521 Athens, Greece.
Ticks are temporary ectoparasites that serve as vectors for a wide range of pathogens affecting both wildlife and humans. In Greece, research on the prevalence of tick-borne pathogens in wildlife is limited. This study investigates the presence of pathogens, including spp.
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