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About 2,319,208 results

Siglec-15 Silencing Inhibits Cell Proliferation and Promotes Cell Apoptosis by Inhibiti...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9236774
Disease Markers; Hou X, Chen C et. al.

Jul 1st, 2022 - Thyroid cancer (THCA) represents a frequently seen endocrine cancer, which can be divided as anaplastic thyroid carcinoma (ATC), follicular thyroid carcinoma (FTC), and papillary thyroid carcinoma (PTC). A total of 362 IDEGs were obtained from TCGA-THCA and IMMPORT databases, which were found to be related to BP, CC, MF, and STAT signaling pathway upon GO functional annotation and KEGG analysis...

Downregulation of DNMT3A Attenuates the Warburg Effect, Proliferation, and Invasion via...
https://doi.org/10.1177/15330338221110668
Technology in Cancer Research & Treatment; Lu J, Zhen S et. al.

Jul 1st, 2022 - Background: Ovarian cancer is a highly malignant gynecological cancer. Aerobic glycolysis is one of the features of cancer cell metabolism. Studying the molecular modulation of the Warburg effect in ovarian cancer is significantly valuable for understanding the progression mechanism of ovarian cancer. Materials and Methods: The expression level and prognostic significance of DNMT3A were analyze...

G-protein Coupled Receptor 34 Promotes Gliomagenesis by Inducing Proliferation and Mali...
https://doi.org/10.1177/15330338221105733
Technology in Cancer Research & Treatment; Cheng Y, Heng X et. al.

Jul 1st, 2022 - Background: G-protein coupled receptor 34 (GPR34) is involved in cell motility, differentiation, and mitosis. GPR34 was reported to be highly expressed and play an oncogenic role in several solid tumors. Here, we investigated the mechanisms underlying how GPR34 promotes glioma progression. Methods: Bioinformatic analysis was performed on RNA-seq and clinical data from the gene expression omnibu...

Effect of miR-196a2 rs11614913 Polymorphism on Cancer Susceptibility: Evidence From an ...
https://doi.org/10.1177/15330338221109798
Technology in Cancer Research & Treatment; Aziz MA, Akter T et. al.

Jul 1st, 2022 - Background: MiR-196a2 rs11614913 polymorphism has been studied in a wide range of cancers throughout the years. Despite a large number of epidemiological studies performed in almost all ethnic populations, the contribution of this polymorphism to cancer risk is still inconclusive. Therefore, this updated meta-analysis was performed to estimate a meticulous correlation between miR-196a2 rs116149...

First reported case of an inherited PACS2 pathogenic variant with variable expression
https://doi.org/10.1684/epd.2022.1417
Epileptic Disorders : International Epilepsy Journal With... Cesaroni E, Matricardi S et. al.

Jul 1st, 2022 - Neonatal epilepsy, cerebellar dysgenesis and facial dysmorphisms may be associated with de novo PACS2 missense pathogenic variants (EIEE 66) (OMIM #618067). Here, we report a toddler boy with neonatal-onset seizures, developmental delay with hypotonia, facial dysmorphisms and prominence of the cisterna magna, mild inferior vermian and cerebellar hypoplasia. A nextgeneration epilepsy gene panel ...

Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.
https://doi.org/10.1684/epd.2022.1423
Epileptic Disorders : International Epilepsy Journal With... Bonardi CM, Bayat A et. al.

Jul 1st, 2022 - We report the association, not previously described, between trisomy 20/ monosomy 18 and congenital bilateral perisylvian syndrome (CBPS), a condition featuring intellectual disability, epilepsy, oro-motor dysfunction and bilateral perisylvian polymicrogyria (BPP) in a 29-year-old individual. Detailed clinical evaluation, long-term EEG and EEG analysis by means of electrical source imaging (ESI...

Use of perampanel in children with refractory epilepsy of genetic aetiology.
https://doi.org/10.1684/epd.2022.1443
Epileptic Disorders : International Epilepsy Journal With... Qu R, Dai Y et. al.

Jul 1st, 2022 - Pathogenic mutations in refractory childhood epilepsy are being increasingly discovered. In this study, we analysed the efficacy and tolerability of perampanel as treatment for genetically-related refractory childhood epilepsy. This prospective study, conducted in China, included 50 patients with refractory epilepsy of genetic aetiology, who were treated with adjunctive perampanel therapy. Pera...

STAMBP gene mutation causing microcephaly-capillary malformation syndrome: a recognizab...
https://doi.org/10.1684/epd.2021.1411
Epileptic Disorders : International Epilepsy Journal With... Anand V, Aggarwa B et. al.

Jul 1st, 2022 - STAMBP gene mutation causing microcephaly-capillary malformation syndrome: a recognizable developmental and epileptic encephalopathy.|2022|Anand V,Aggarwa B,Jauhari P,Kumar M,Gupta N,|abnormalities,genetics,genetics,genetics,genetics,

ITPA-associated developmental and epileptic encephalopathy: characteristic neuroradiolo...
https://doi.org/10.1684/epd.2022.1424
Epileptic Disorders : International Epilepsy Journal With... Garg M, Goraya J et. al.

Jul 1st, 2022 - Developmental and epileptic encephalopathies (DEE) in children have an everexpanding range of rare causes. Mutations in ITPA have been recently described as causative of DEE, but only a small number of patients have been reported so far. We describe two Indian children with novel variants in the ITPA gene. Both patients had characteristic, previously described, neuroradiological findings that h...

MFG-E8 Knockout Aggravated Nonalcoholic Steatohepatitis by Promoting the Activation of ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9236848
Mediators of Inflammation; Hu J, Du H et. al.

Jul 1st, 2022 - Nonalcoholic steatohepatitis (NASH) is the common liver disease characterized by hepatic steatosis, inflammation, and fibrosis; there are no approved drugs to treat this disease because of incomplete understanding of pathophysiological mechanisms of NASH. Milk fat globule-epidermal growth factor-factor 8 (MFG-E8), a multifunctional glycoprotein, has shown anti-inflammation and antifibrosis. Her...

circACTG1 Promotes Hepatocellular Carcinoma Progression by Regulating miR-940/RIF1 Axis...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9234050
Journal of Immunology Research; Wu C, Tian S et. al.

Jul 1st, 2022 - Hepatocellular carcinoma (HCC) is recognized as the fourth in incidence and the third in mortality worldwide. The onset of HCC is insidious and often asymptomatic at the early stage. HCC is more prone to metastasis, recurrence, and drug resistance than other solid tumors owing to its feature of high heterogeneity. Therefore, what particularly important is to search for effective molecular marke...

The Comprehensive Analysis of Interferon-Related Prognostic Signature with regard to Im...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9236773
Disease Markers; An Y, Duan H

Jul 1st, 2022 - Interferon plays an important role in immune response of ovarian cancer. However, the expression pattern of interferon in ovarian cancer remains unclear. This study is aimed at exploring the expression profile of interferon-relate genes and constructing an interferon-based prognostic signature in ovarian cancer. The ovarian cancer samples collected from TCGA database were viewed as the training...

Characterizing HDAC Pathway Copy Number Variation in Pan-Cancer.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235358
Pathology Oncology Research : POR; Yang S, Xie S et. al.

Jul 1st, 2022 - Background: Histone deacetylase (HDAC) plays a crucial role in regulating the expression and activity of a variety of genes associated with tumor progression and immunotherapeutic processes. The aim of this study was to characterize HDAC pathway copy number variation (CNV) in pan-cancer. Methods: A total of 10,678 tumor samples involving 33 types of tumors from The Cancer Genome Atlas (TCGA) we...

Comparison of Clinical Characteristics and Genetic Aberrations of Plasma Cell Disorders...
https://doi.org/10.1177/15330338221111228
Technology in Cancer Research & Treatment; Jirabanditsakul C, Dakeng S et. al.

Jul 1st, 2022 - Multiple myeloma is an incurable malignancy of plasma cells resulting from impaired terminal B cell development. Almost all patients with multiple myeloma eventually have a relapse. Many studies have demonstrated the importance of the various genomic mutations that characterize multiple myeloma as a complex heterogeneous disease. In recent years, next-generation sequencing has been used to iden...

Clinical evaluation of hydration index using a corneometer in metastatic melanoma patie...
https://doi.org/10.1684/ejd.2022.4198
European Journal of Dermatology : EJD; Amabile S, Tonella L et. al.

Jun 30th, 2022 - Clinical evaluation of hydration index using a corneometer in metastatic melanoma patients treated with BRAF/MEK inhibitors: a prospective study.|2022|Amabile S,Tonella L,Rubatto M,Argenziano G,Babino G,|drug therapy,pathology,therapeutic use,genetics,

Molecular Epidemiology of Adenoviral Keratoconjunctivitis in Korea.
https://doi.org/10.3343/alm.2022.42.6.683
Annals of Laboratory Medicine; Seo JW, Lee SK et. al.

Jun 30th, 2022 - Human adenoviruses (HAdVs) are a major cause of epidemic keratoconjunctivitis. We investigated the types of adenoviruses responsible for the recent epidemic of keratoconjunctivitis in Korea. From January to November 2019, 218 conjunctival swab samples were collected from patients clinically suspected as having adenoviral keratoconjunctivitis. Genotyping targeting of adenovirus capsid hexon gene...

Detection of netrin-1 as a novel biomarker for diagnosis and chemotherapeutic monitorin...
https://doi.org/10.1177/03000605221105364
The Journal of International Medical Research; Zhao Y, Song J et. al.

Jun 30th, 2022 - Lung cancer has high morbidity and mortality. We aimed to determine the value of netrin-1 for the diagnosis and chemotherapeutic monitoring of lung cancer. Thirty pairs of lung cancer tissues and serum were collected. Netrin-1 expression was detected by immunohistochemistry and enzyme-linked immunosorbent assay. Netrin-1 expression was downregulated in A549 cells using small interfering RNA, an...

Age Group-specific Reference Intervals for the Elecsys Anti-Müllerian Hormone Assay in ...
https://doi.org/10.3343/alm.2022.42.6.621
Annals of Laboratory Medicine; Ji M, Kim KR et. al.

Jun 30th, 2022 - Anti-Müllerian hormone (AMH) is one of the most reliable markers of ovarian reserve. Automated AMH assays are widely used in clinical laboratories, but reference intervals for the Elecsys AMH assay for Asian populations have not yet been determined. We aimed to determine reference intervals in healthy Korean women. The study included 1,450 women aged 19 to 54 years who participated in the Korea...

Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Mye...
https://doi.org/10.3343/alm.2022.42.6.678
Annals of Laboratory Medicine; Hwang SM, Kim BJ et. al.

Jun 30th, 2022 - Systemic mastocytosis with associated hematological neoplasm (SM-AHN) poses diagnostic challenges because of the coexistence of atypical mast cell proliferation and hematological neoplasms. We assessed the presence of SM-AHN in patients with acute myeloid leukemia (AML) with RUNX1::RUNX1T1 from 2014 to 2020. Bone marrow (BM) samples were evaluated for mast cell aggregates using CD117 and CD25 i...

Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
https://doi.org/10.3343/alm.2022.42.6.668
Annals of Laboratory Medicine; Kim HY, Shin CH et. al.

Jun 30th, 2022 - Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by genetic or epigenetic alterations at two imprinting centers (ICs) in the 11p15.5 region. Delineation of the molecular defects is important for prognosis and predicting familial recurrence. We evaluated epigenetic alterations and potential epigenotype-phenotype correlations in Korean children with BWS. Forty children...