Search Our Scientific Publications & Authors

J Invest Dermatol 2021 Apr 5. Epub 2021 Apr 5.

Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, Canada.

Malignant peripheral nerve sheath tumor (MPNST)-like melanoma is a rare malignancy with overlapping characteristics of both neural sarcoma and melanoma. Although the genomics of cutaneous melanoma have been extensively studied, those of MPNST-like melanoma have not. To characterize the genomic landscape of MPNST-like melanoma, we performed a single-center, retrospective cohort-study at a tertiary academic cancer centre. Read More

Mech Ageing Dev 2021 Apr 5;196:111480. Epub 2021 Apr 5.

Department of Molecular and Life Science, College of Science and Convergence Technology, Hanyang University ERICA Campus, Ansan 15588, Republic of Korea. Electronic address:

Spt7 belongs to the suppressor of Ty (SPT) module of the Spt-Ada-Gcn5-acetyltransferase (SAGA) complex and is known as the yeast ortholog of human STAF65γ. Spt7 lacks intrinsic enzymatic activity but is responsible for the integrity and proper assembly of the SAGA complex. Here, we determined the role of the SAGA Spt7 subunit in cellular aging. Read More

Clin Mol Allergy 2021 Apr 7;19(1). Epub 2021 Apr 7.

General Medicine Department, ASST-Fatebenefratelli-Sacco, Milan, Italy.

Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare disease. Few states in developing countries have an adequate management of HAE, but none of them belongs to the former USSR area. This study analyses data from C1-INH-HAE patients from Belarus. Read More

Front Oncol 2021 19;11:642744. Epub 2021 Mar 19.

Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de Câncer, Rio de Janeiro, Brazil.

Previous studies have suggested a variation in the incidence of acute promyelocytic leukemia (APL) among the geographic regions with relatively higher percentages in the Latin American population. We aimed to explore the population burden of pediatric APL, gathering information from the population-based cancer registry (PBCR) and the diagnosis of APL obtained through incident cases from a hospital-based cohort. The homozygous deletion in glutathione S-transferases (GSTs) leads to a loss of enzyme detoxification activity, possibly affecting the treatment response. Read More

Front Genet 2021 19;12:646179. Epub 2021 Mar 19.

Department of Epidemiology and Biostatistics, National Clinical Research Center for Cancer, Key Laboratory of Molecular Cancer Epidemiology of Tianjin, Tianjin Medical University Cancer Institute and Hospital, Tianjin Medical University, Tianjin, China.

Identifying causal regulatory variants and their target genes from the majority of non-coding disease-associated genetic loci is the main challenge in post-Genome-Wide Association Studies (GWAS) functional studies. Although chromosome conformation capture (3C) and its derivative technologies have been successfully applied to nominate putative causal genes for non-coding variants, many GWAS target genes have not been identified yet. This study generated a high-resolution contact map from epithelial ovarian cancer (EOC) cells with two H3K27ac-HiChIP libraries and analyzed the underlying gene networks for 15 risk loci identified from the largest EOC GWAS. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2021 Apr;29(2):596-620

Department of Tumor and Hematology, The First People's Hospital of Honghe State, Mengzi 661100, Yunnan Province, China,E-mail:

Objective: To detecte the carrying rate, the type and distribution of α-Thalassemia gene mutation in Honghe Prefecture, Yunnan Province, and analyze the differences in average erythrocyte volume (MCV), mean erythrocyte hemoglobin content (MCH) and hemoglobin among different types of α-Thalassemia.

Methods: The DNA samples from small cell hypochromic carriers or anemia patients and women of childbearing age who underwent hematological screening in The First People's Hospital of Honghe State was from 2015 to 2019 were enrolled and analyzed, and the mutation types and frequency of alpha-thalassemia positive rate were diagnosed by PCR reverse dot blot or PCR fluorescence dissolution curve.

Results: Among the 1 016 samples, 141(13. Read More

J Mol Biol 2021 Mar 31:166976. Epub 2021 Mar 31.

Council of Scientific and Industrial Research-Institute of Microbial Technology, India; Academy of Scientific & Innovative Research, India. Electronic address:

The cellular chaperone machinery plays key role in the de novo formation and propagation of yeast prions (infectious protein). Though the role of Hsp70s in the prion maintenance is well studied, how Hsp90 chaperone machinery affects yeast prions remains unclear. In the current study, we examined the role of Hsp90 and its co-chaperones on yeast prions [PSI] and [URE3]. Read More

Cancers (Basel) 2021 Mar 19;13(6). Epub 2021 Mar 19.

Institute of Pathology and Neuropathology and Comprehensive Cancer Center Tübingen, Eberhard-Karls-University, 72076 Tübingen, Germany.

Epstein-Barr virus (EBV) is a ubiquitous gamma herpes virus with tropism for B cells. EBV is linked to the pathogenesis of B cell, T cell and NK cell lymphoproliferations, with extranodal NK/T cell lymphoma, nasal type (ENKTCL) being the prototype of an EBV-driven lymphoma. ENKTCL is an aggressive neoplasm, particularly widespread in East Asia and the native population of Latin America, which suggests a strong genetic predisposition. Read More

Int J Mol Sci 2021 Mar 5;22(5). Epub 2021 Mar 5.

UNICAEN, INSERM, COMETE, CYCERON, CHU Caen, Normandie Université, 14000 Caen, France.

For a better translation from treatment designs of schizophrenia to clinical efficiency, there is a crucial need to refine preclinical animal models. In order to consider the multifactorial nature of the disorder, a new mouse model associating three factors (genetic susceptibility-partial deletion of the gene, early-life stress-maternal separation, and pharmacological treatment-chronic Δ-9-tetrahydrocannabinol during adolescence) has recently been described. While this model depicts a schizophrenia-like phenotype, the neurobiological correlates remain unknown. Read More

Int J Parasitol Drugs Drug Resist 2021 Mar 26;15:168-176. Epub 2021 Mar 26.

Department of Biomedical Sciences and Veterinary Public Health, Section for Parasitology, Swedish University of Agricultural Sciences, Uppsala, Sweden.

The nematode Haemonchus contortus is one of the most prevalent and pathogenic parasites in small ruminants. Although usually controlled using anthelmintics, the development of drug resistance by the parasite has become a major issue in livestock production. While the molecular detection of benzimidazole resistance in H. Read More

Am J Hum Genet 2021 Apr;108(4):583-596

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA. Electronic address:

The contribution of genome structural variation (SV) to quantitative traits associated with cardiometabolic diseases remains largely unknown. Here, we present the results of a study examining genetic association between SVs and cardiometabolic traits in the Finnish population. We used sensitive methods to identify and genotype 129,166 high-confidence SVs from deep whole-genome sequencing (WGS) data of 4,848 individuals. Read More

Immunohorizons 2021 Mar 31;5(3):147-156. Epub 2021 Mar 31.

Department of Microbiology and Immunology, Marlene and Stewart Greenebaum Comprehensive Cancer Center, University of Maryland School of Medicine, Baltimore, MD 21201; and

NKT cells are primed lymphocytes that rapidly secrete cytokines and can directly kill cancerous cells. Given the critical role NKT cells play in cancer immune surveillance, we sought to investigate the effect of mutations in Brca1, specifically a conditional deletion of exon 11, on type I invariant NKT cell development. We observed a significant reduction in invariant NKT cells in both primary lymphoid and peripheral organs in Brca1 mutant mice compared with wild-type C57BL/6. Read More

Antimicrob Agents Chemother 2021 Mar 29. Epub 2021 Mar 29.

Institute for Therapeutic Innovation, University of Florida.

Ceftazidime/Avibactam (CAZ/AVI) is a β-lactam/β-lactamase inhibitor combination with activity against type A and C β-lactamases. Resistance emergence has been seen with multiple mechanisms accounting for the resistance. We performed four experiments in the dynamic Hollow Fiber Infection Model, delineating the linkage between drug exposure and both rate of bacterial kill and resistance emergence by all mechanisms. Read More

Neuroendocrinology 2021 Mar 26. Epub 2021 Mar 26.

Introduction: While the vast majority of research investigating the role of ghrelin or its receptor, GHS-R1a, on growth, feeding and metabolism has been conducted in male rodents, very little is known about sex differences in this system. Furthermore, the role of GHS-R1a signaling in the control of pulsatile GH secretion and its link with growth or metabolic parameters has never been characterized.

Methods: We assessed the sex-specific contribution of GHS-R1a signaling on the activity of the GH/IGF-1 axis, metabolic parameters and feeding behavior in adolescent (5-6 weeks old) or adult (10-19 weeks old) GHS-R KO (Ghsr-/-) and WT (Ghsr+/+) male and female mice. Read More

Genet Mol Biol 2021 26;44(2):e20200399. Epub 2021 Mar 26.

Universidad de la República (UdelaR), Centro Universitario Regional (CENUR) Litoral Norte, Departamento de Ciencias Biológicas, Laboratorio de Genética Molecular Humana, Salto, Uruguay.

Alpha thalassemia is the most common genetic disorder across the world, being the α-3.7 deletion the most frequent mutation. In order to analyze the spectrum and origin of alpha thalassemia mutations in Uruguay, we obtained a sample of 168 unrelated outpatients with normal hemoglobin levels with microcytosis and hypochromia from two cities: Montevideo and Salto. Read More

Stem Cell Res 2021 Mar 16;53:102283. Epub 2021 Mar 16.

Institute of Cardiovascular Sciences, St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Canada. Electronic address:

Kearns-Sayre syndrome (KSS) is an ultrarare multi-organ disorder, with a frequency of ~1 in 100,000 individuals. KSS is characterized with (1.1-10 kilobase) deletion of a mitochondrial DNA (mtDNA). Read More

Nat Immunol 2021 Apr 22;22(4):520-529. Epub 2021 Mar 22.

Department of Cancer Immunology and Virology, Dana-Farber Cancer Institute, Boston, MA, USA.

Patients with myelodysplastic syndromes (MDSs) display severe anemia but the mechanisms underlying this phenotype are incompletely understood. Right open-reading-frame kinase 2 (RIOK2) encodes a protein kinase located at 5q15, a region frequently lost in patients with MDS del(5q). Here we show that hematopoietic cell-specific haploinsufficient deletion of Riok2 (Riok2Vav1) led to reduced erythroid precursor frequency leading to anemia. Read More

NPJ Precis Oncol 2021 Mar 22;5(1):26. Epub 2021 Mar 22.

The Brown Foundation Institute of Molecular Medicine for the Prevention of Disease, The University of Texas Health Sciences Center at Houston, Houston, TX, USA.

Aggressiveness of carcinomas is linked with tumor recruitment of adipose stromal cells (ASC), which is increased in obesity. ASC promote cancer through molecular pathways not fully understood. Here, we demonstrate that epithelial-mesenchymal transition (EMT) in prostate tumors is promoted by obesity and suppressed upon pharmacological ASC depletion in HiMyc mice, a spontaneous genetic model of prostate cancer. Read More

Transl Psychiatry 2021 Mar 22;11(1):182. Epub 2021 Mar 22.

NORMENT, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. Read More

BMC Gastroenterol 2021 Mar 22;21(1):132. Epub 2021 Mar 22.

Department of Psychiatry, University of Oxford, Oxford, UK.

Background: The SCCAI was designed to facilitate assessment of disease activity in ulcerative colitis (UC). We aimed to interrogate the metric properties of individual items of the SCCAI using item response theory (IRT) analysis, to simplify and improve its performance.

Methods: The original 9-item SCCAI was collected through TrueColours, a real-time software platform which allows remote entry and monitoring of patients with UC. Read More

Acta Oncol 2021 Mar 22:1-11. Epub 2021 Mar 22.

Department of Internal Medicine, Hematology and Oncology, University Hospital Brno, Brno, Czechia.

Introduction: -like acute lymphoblastic leukemia (ALL) is a high-risk disease with a complex genomic background. Though extensively studied, data on the frequency and mutual associations of present mutations are still incomplete in adult patients. This retrospective study aims to map the genomic landscape of B-other ALL in a cohort of adult patients with a focus on the -like ALL subtype. Read More

Mol Biol Evol 2021 Mar 22. Epub 2021 Mar 22.

Department of Biological Sciences, Lehigh University, Bethlehem, PA, USA.

Understanding how genes interact is a central challenge in biology. Experimental evolution provides a useful, but underutilized, tool for identifying genetic interactions, particularly those that involve non-loss-of-function mutations or mutations in essential genes. We previously identified a strong positive genetic interaction between specific mutations in KEL1 (P344T) and HSL7 (A695fs) that arose in an experimentally-evolved Saccharomyces cerevisiae population. Read More

Front Oncol 2021 4;11:570623. Epub 2021 Mar 4.

Department of Pathology, State Key Laboratory of Complex Severe and Rare Diseases, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

Purpose: To investigate the status of mismatch repair (MMR) and microsatellite instability (MSI) in triple-negative breast cancer (TNBC) and to examine correlations between MMR/MSI status and clinicopathological parameters.

Methods: We retrospectively collected tissue samples from 440 patients with TNBC and constructed tissue microarrays. Protein expression of MLH1, MSH2, MSH6, and PMS2 was detected by immunohistochemistry (IHC). Read More

Clin Rheumatol 2021 Mar 20. Epub 2021 Mar 20.

Faculdade de Ciências Farmacêuticas, Universidade Federal do Amazonas, Manaus, Amazonas, Brazil.

Objective: To investigate the frequency of glutathione S-transferase (GST), catalase, and SOD2 genetic polymorphisms and their correlation with SLE.

Methods: A total of 290 females (patients = 151; controls= 139) were recruited. Multiplex PCR was performed for genotyping GSTM1 and GSTT1 genes, whereas real-time qPCR was used for determination of SNPs: CAT C262T, SOD2 C47T, GSTP1 A313G and GSTP1 IVS6 -C16T. Read More

J Neurodev Disord 2021 Mar 20;13(1):10. Epub 2021 Mar 20.

Department of Psychiatry, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110-1093, USA.

Background: Motor deficits such as abnormal gait are an underappreciated yet characteristic phenotype of many neurodevelopmental disorders (NDDs), including Williams Syndrome (WS) and Neurofibromatosis Type 1 (NF1). Compared to cognitive phenotypes, gait phenotypes are readily and comparably assessed in both humans and model organisms and are controlled by well-defined CNS circuits. Discovery of a common gait phenotype between NDDs might suggest shared cellular and molecular deficits and highlight simple outcome variables to potentially quantify longitudinal treatment efficacy in NDDs. Read More

Sci Rep 2021 Mar 19;11(1):6408. Epub 2021 Mar 19.

Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.

Recent advances in throughput and accuracy mean that the Oxford Nanopore Technologies PromethION platform is a now a viable solution for genome sequencing. Much of the validation of bioinformatic tools for this long-read data has focussed on calling germline variants (including structural variants). Somatic variants are outnumbered many-fold by germline variants and their detection is further complicated by the effects of tumour purity/subclonality. Read More

Epilepsy Behav 2021 Mar 16:107896. Epub 2021 Mar 16.

Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.

Risk of sudden unexpected death in epilepsy (SUDEP) in children is influenced by different factors such as etiology, seizure type and frequency, treatment, and environment. A greater severity of epilepsy, in terms of seizure frequency, seizures type, especially with nocturnal generalized tonic-clonic seizures (GTCS), and resistance to anti-seizure medication are predisposing factors to SUDEP. Potential mechanisms of SUDEP might involve respiratory, cardiovascular, and central autonomic dysfunctions, either combined or in isolation. Read More

Geroscience 2021 Mar 19. Epub 2021 Mar 19.

Veterans Administration Greater Los Angeles Healthcare System, Los Angeles, CA, USA.

Mitochondrial DNA (mtDNA) quality and quantity relate to two hallmarks of aging-genomic instability and mitochondrial dysfunction. Physical performance relies on mitochondrial integrity and declines with age, yet the interactions between mtDNA quantity, quality, and physical performance are unclear. Using a validated digital PCR assay specific for mtDNA deletions, we tested the hypothesis that skeletal muscle mtDNA deletion mutation frequency (i. Read More

Biol Reprod 2021 Mar 19. Epub 2021 Mar 19.

Department of Obstetrics and Gynaecology, Hebei Medical University Fourth Affiliated Hospital and Hebei Provincial Tumor Hospital, China.

Background: Malignant ovarian germ cell tumors (MOGCTs) are rare and heterogeneous ovary tumors. We aimed to identify potential germline mutations and somatic mutations in MOGCTs by whole-exome sequencing.

Methods: The peripheral blood and tumor samples from these patients were used to identify germline mutations and somatic mutations, respectively. Read More

Theriogenology 2021 May 3;166:112-123. Epub 2021 Mar 3.

Department of Animal Biochemistry and Biotechnology, Faculty of Animal Bioengineering, University of Warmia and Mazury in Olsztyn, 10-719, Olsztyn, Poland. Electronic address:

Single nucleotide polymorphisms (SNPs) in the 5'-flanking regulatory regions of genes could affect their expression levels. This is a follow-up study aimed to identify polymorphic variants in the 5'-flanking regulatory regions of genes expressed in boar spermatozoa, and to predict the interactions of such variants with transcription factors (TFs) on the gene promoter activity, using bioinformatics. Five and six boars were classified as having good and poor semen freezability (GSF and PSF, respectively) according to post-thaw (PT) assessment of sperm motility and membrane integrity characteristics. Read More