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Article
A Pedigree Investigation of H-antigen Deletion Caused by Mutation of 658 C to T in the FUT1 Gene
H-antigen deletion is often caused by FUT1 gene mutation, which is a very rare blood group. In this case, the H-antigen phenotype, FUT1, FUT2 sequences, and family genetic investigation of a 26-year-old patien...
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Article
RBM15 Knockdown Impairs the Malignancy of Cervical Cancer by Mediating m6A Modification of Decorin
Cervical cancer (CC) is considered to be the most prevalent female malignancies across the globe and a prime cause of mortality among women. RNA-binding motif protein 15 (RBM15) has been elucidated to particip...
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Article
Open AccessConstruction and validation of a cuproptosis-related five-lncRNA signature for predicting prognosis, immune response and drug sensitivity in breast cancer
Despite advances in treatment, recurrence and mortality rates from breast cancer (BrCa) continue to rise, clinical effectiveness is limited, and prognosis remains disappointing, especially for patients with HE...
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Article
A Circular RNA, hsa_circ_0018180 (circPARD3), Triggers Glycolysis and Promotes Malignancy of Head and Neck Squamous Cell Carcinoma Through the miR-5194/ENO1 Axis
Emerging evidence has demonstrated the pivotal roles of circular RNAs (circRNAs) in the modulation of malignancy and pathological progression among multiple human cancers. Glucose metabolism reprogramming is a...
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Article
The Dynamic Change of Gene-Regulated Networks in Cashmere Goat Skin with Seasonal Variation
The Cashmere goat (Capra hircus) is renowned for its high-quality fiber production trait. The hair cycle in Cashmere goat has an annual rhythm. To deepen the understanding of the molecular foundation of annual rh...
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Article
Altered circadian clock gene expression in the sperm of infertile men with asthenozoospermia
Male infertility is a complex multifactorial pathological condition, and asthenozoospermia (AZS) is one of the most common causes. Current evidence suggests the underlying role of the circadian clock on male f...
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Article
Open AccessEpigenetic imprinting alterations as effective diagnostic biomarkers for early-stage lung cancer and small pulmonary nodules
Early lung cancer detection remains a clinical challenge for standard diagnostic biopsies due to insufficient tumor morphological evidence. As epigenetic alterations precede morphological changes, expression a...
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Article
Open AccessCytological, genetic, and proteomic analysis of a sesame (Sesamum indicum L.) mutant Siyl-1 with yellow–green leaf color
Both photosynthetic pigments and chloroplasts in plant leaf cells play an important role in deciding on the photosynthetic capacity and efficiency in plants. Systematical investigating the regulatory mechanism...
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Article
Open AccessHypomethylation at non-CpG/CpG sites in the promoter of HIF-1α gene combined with enhanced H3K9Ac modification contribute to maintain higher HIF-1α expression in breast cancer
HIF-1α has a broad impact on tumors, including enhanced utilization of glucose, tumor cell stemness, migration, metastasis and so on. In pilot study, we found that the expression of HIF-1α significantly increa...
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Article
Engineering new neurons: in vivo reprogramming in mammalian brain and spinal cord
Neurons are postmitotic. Once lost because of injury or degeneration, they do not regenerate in most regions of the mammalian central nervous system. Recent advancements nevertheless clearly reveal that new ne...
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Article
Prenatal molecular cytogenetic analysis of a mild dysmorphic fetus with a huge unbalance karyotype involving partial 9p deletion and partial 18q duplication
Partial 9p deletion syndrome and partial 18q duplication syndrome each have distinct clinical features. We describe the prenatal molecular cytogenetic analysis of a de novo unbalanced karyotype with deletion o...
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Article
Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1
Qiuyin Cai and colleagues report a genome-wide association analysis for breast cancer in 22,780 cases and 24,181 controls from 14 studies as part of the Asia Breast Cancer Consortium. They identify three loci ...
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Article
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk
Wei Zheng and colleagues report the results of a large-scale genome-wide association study of colorectal cancer in East Asians. They identify six new susceptibility loci, including variants near TCF7L2 and TGFB1.
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Article
Expression of G protein estrogen receptor (GPER) on membrane of mouse oocytes during maturation
To determine expression of G-protein estrogen receptor (GPER) in mouse oocyte membrane during maturation.
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Article
Meta-analysis identifies common variants associated with body mass index in east Asians
**ao-Ou Shu and colleagues report a meta-analysis of genome-wide association studies for body mass index (BMI) in east Asians. They identify three new genetic loci associated with BMI.
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Article
Cervid satellite DNA and karyotypic evolution of Indian muntjac
Five satellite DNA families (designated as satellite I–V) have been identified in the Cervidae so far. Among those, satellite I, II and IV are centromere specific. Satellite I and II are shared by large number...
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Article
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
Hamish Scott and colleagues report that germline mutations in GATA2 segregate with myelodysplastic syndrome and acute myeloid leukemia in four pedigrees. The resulting alterations occur in a conserved zinc finger...
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Article
Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci
Nat. Genet. 42, 332–337 (2010); published online 14 March 2010; corrected after print 29 March 2011 In the version of this article initially published, Kathryn Roeder's affiliation was incorrect. Her correct a...
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Article
Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population
Qing Wang and colleagues report a genome-wide association study for coronary artery disease (CAD) in a Chinese Han population. They identify a locus on chromosome 6p24.1 newly associated with CAD.
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Article
Genome-wide association identifies multiple ulcerative colitis susceptibility loci
Mark Seielstad and colleagues report results of a large genome-wide association and replication study of ulcerative colitis. The work identifies several new risk loci for this disease and provides further insi...