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Development and Developmental Disorders of the Cerebral Cortex
The cerebral cortex can be divided into a large isocortex, a much smaller allocortex (the hippocampal formation and the olfactory cortex), and a...
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Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been reported...
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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer
In childhood cancer, the frequency of cancer-associated germline variants and their inheritance patterns are not thoroughly investigated. Moreover,...
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Respiratory Complications in Patients with Hyper IgM Syndrome
PurposeHyper Immunoglobulin M (HIgM) syndrome is a heterogeneous group of primary immunodeficiency disorders, characterized by recurrent infections...
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Advances in germline predisposition to acute leukaemias and myeloid neoplasms
Although much work has focused on the elucidation of somatic alterations that drive the development of acute leukaemias and other haematopoietic...
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ADAMTS1 Is Differentially Expressed in Human Lymphocytes with Various Frequencies of Endogenous ÎłH2AX Foci and Radiation-Induced Micronuclei
AbstractThe level of spontaneous and radiation-induced DNA damage varies depending on genetic and environmental factors in human somatic cells. This...
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Immunodeficiency Secondary to Prematurity, Pregnancy, and Aging
In this chapter we address three common scenarios often faced by clinical immunologists. In the first case, we explore the approach to an abnormal...
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Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair
Fanconi anemia is a genetic disorder that is characterized by bone marrow failure, as well as a predisposition to malignancies including leukemia and...
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When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review
Newborn screening efforts focusing on the quantification of T cell receptor excision circles (TRECs), as a biomarker for abnormal thymic production...
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Genetic Instability and Cancer
Cancer cells have a high degree of genomic plasticity, a characteristic that endows them with the dangerous ability to adapt to new environmental...
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Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea
BackgroundTherapy-related myeloid neoplasm (T-MN) rarely occurs among cancer survivors, and was characterized by poor prognosis. T-MN has germline...
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Sex-Related and Brain Regional Differences of URB597 Effects on Modulation of MAPK/PI3K Signaling in Chronically Stressed Rats
Gender differences exist in depression incidence and antidepressant efficacy. In addition to the neurotransmission theory of depression, inflammation...
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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform
Most variations in the human genome refer to single-nucleotide variation (SNV), small fragment insertions and deletions, and genomic copy number...
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CRISPR/Cas9-mediated knockout strategies for enhancing immunotherapy in breast cancer
Breast cancer, a prevalent disease with significant mortality rates, often presents treatment challenges due to its complex genetic makeup. This...
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APE1 promotes non-homologous end joining by initiating DNA double-strand break formation and decreasing ubiquitination of artemis following oxidative genotoxic stress
BackgroundApurinic/apyrimidinic endonuclease 1 (APE1) imparts radio-resistance by repairing isolated lesions via the base excision repair (BER)...
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Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations
Exome sequencing has been increasingly implemented in prenatal genetic testing for fetuses with morphological abnormalities but normal rapid...
