The effect of the PARK16 rs11240572 variant on brain structure in Parkinson's disease
The objective of the study was to explore the effect of the PARK16 rs11240572 variant on brain structure in PD patients. A total of 51 PD patients were enrolled in the study and genotyped for the rs11240572 variant. Clinical assessments and MRI scans were conducted across all participants. Voxel-based morphometry (VBM) was used to investigate gray matter volume (GMV) of the whole brain between these two groups. Correlation analysis was performed to identify the relationships between GMV and clinical features. There were 17 rs11240572-A variant carriers and 34 non-carriers, with no significant demographic differences betwee...
Source: Anatomy and Embryology - September 21, 2021 Category: Anatomy Source Type: research

The Perfect Storm: COVID-19 Health Disparities in US Blacks
AbstractCoronavirus disease 2019 (COVID-19) accounts for over 180,000 deaths in the USA. Although COVID-19 affects all racial ethnicities, non-Hispanic Blacks have the highest mortality rates. Evidence continues to emerge, linking the disproportion of contagion and mortality from severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), a result of adverse social determinants of health. Yet, genetic predisposition may also play a credible role in disease transmission. SARS-CoV-2 enters cells by interaction between SARS-CoV-2 spike protein and the receptor molecule angiotensin converting enzyme 2 (ACE2) expressed on the...
Source: Journal of Racial and Ethnic Health Disparities - September 20, 2021 Category: International Medicine & Public Health Source Type: research

Sex in the Nucleus Accumbens: ΔFosB, Addiction, and Affective States
Substance use disorders (SUDs) are neuropsychiatric diseases with complex etiologies that include genetic/individual predispositions to drug responses that are influenced by distinct environmental stressors (1). Because humans meet the criteria for SUDs only after repeated exposure to drugs, it has been suggested that these drugs may cause long-term neuroplastic changes secondary to epigenetic alterations and associated changes in gene expression. Therefore, recent efforts to dissect molecular responses to drugs have included discovery approaches using large-scale RNA sequencing to investigate the impact of drugs on gene e...
Source: Biological Psychiatry - September 20, 2021 Category: Psychiatry Authors: Jean Lud Cadet Tags: Commentary Source Type: research

PhosSNPs-Regulated Gene Network and Pathway Significant for Rheumatoid Arthritis
Conclusions: The findings delineated a potential role of protein phosphorylation and genetic variations in RA and warranted the significant roles of phosSNPs in regulating RA-associated genes expression in PBMCs. The results pointed out the relevance and significance of oxidative phosphorylation pathway to RA.Hum Hered (Source: Human Heredity)
Source: Human Heredity - September 20, 2021 Category: Genetics & Stem Cells Source Type: research

Evolutionary Learning-Derived Clinical-Radiomic Models for Predicting Early Recurrence of Hepatocellular Carcinoma after Resection
Conclusion: The GARSL models using both clinical and radiomic features significantly improved the accuracy to predict early recurrence of HCC after surgical resection, which was significantly better than other well-known machine learning-derived models and currently available clinical models.Liver Cancer (Source: Liver Cancer)
Source: Liver Cancer - September 20, 2021 Category: Cancer & Oncology Source Type: research

miR-3929 Inhibits Proliferation and Promotes Apoptosis by Downregulating Cripto-1 Expression in Cervical Cancer Cells
In this study, we focused on the post-transcriptional regulation of Cripto-1 expression and analyzed the potential miRNAs that bind to the 3 ′UTR of Cripto-1 mRNA. miR-3929 was found to be able to bind to the 3′UTR and downregulate the expression of Cripto-1 in cervical cancer cells. Then, we analyzed the effect of miR-3929 on the biological behavior of cervical cancer cells, finding that miR-3929 could reduce cell viability, DNA syn thesis, and Ki67 expression and induce cell cycle arrest in the G2/M phase; overexpression of Cripto-1 reversed the inhibitory effect of miR-3929 on proliferation. Moreover, DAPI s...
Source: Cytogenetic and Genome Research - September 20, 2021 Category: Genetics & Stem Cells Source Type: research

Increased Production of Colanic Acid by an Engineered Escherichia coli Strain, Mediated by Genetic and Environmental Perturbations
Appl Biochem Biotechnol. 2021 Sep 20. doi: 10.1007/s12010-021-03671-0. Online ahead of print.ABSTRACTColanic acid (CA) is a major exopolysaccharide synthesized by Escherichia coli that serves as a constituent of biofilm matrices. CA demonstrates potential applications in the food, cosmetics, and pharmaceutical industry. Moreover, L-fucose, a monomeric constituent of CA, exhibits various physiological activities, such as antitumor, anti-inflammatory, and skin-whitening. Here, the effects of genetic and environmental perturbations were investigated for improving CA production by E. coli. When rcsF, a positive regulator gene ...
Source: Applied Biochemistry and Biotechnology - September 20, 2021 Category: Biochemistry Authors: Eun Ju Yun Yoonho Cho Na Ree Han In Jung Kim Yong-Su Jin Kyoung Heon Kim Source Type: research

Generation and characterization of a Myh6-driven Cre knockin mouse line
In this study, we generated a Myh6-Cre knockin mouse model by inserting the IRES-Cre-wpre-polyA cassette between the translational stop codon and the 3' untranslated region of the endogenous Myh6 gene. By crossing knockin mice with the Rosa26 reporter lines, we found that Myh6-Cre targeted cardiomyocytes at the embryonic and postnatal stages. In addition, we were able to inactivate the desmosome gene Desmoplakin (Dsp) by breeding Myh6-Cre mice with a conditional Dspflox knockout mouse line, which resulted in embryonic lethality during the mid-term pregnancy. These results suggest that the new Myh6-Cre mouse line can serve ...
Source: Transgenic Research - September 20, 2021 Category: Genetics & Stem Cells Authors: Xinyan Huang Lei Yan Shan Kou Jufeng Meng Zhengkai Lu Chao-Po Lin Chen Liu Hui Zhang Source Type: research

Corrigendum to "Quantitative assessment of HR and NHEJ activities via CRISPR/Cas9-induced oligodeoxynucleotide-mediated DSB repair" [DNA Repair 70 (2018) 67-71]
DNA Repair (Amst). 2021 Sep 15:103226. doi: 10.1016/j.dnarep.2021.103226. Online ahead of print.NO ABSTRACTPMID:34538576 | DOI:10.1016/j.dnarep.2021.103226 (Source: DNA Repair)
Source: DNA Repair - September 20, 2021 Category: Genetics & Stem Cells Authors: Jie Du Narui Yin Ting Xie Yunfeng Zheng Ning Xia Jun Shang Fei Chen Haowen Zhang Jiahua Yu Fenju Liu Source Type: research

A Comparison of Preterm Birth Rate and Growth from Birth to 18 Years Old between in Vitro Fertilization and Spontaneous Conception of Twins
Twin Res Hum Genet. 2021 Sep 20:1-6. doi: 10.1017/thg.2021.33. Online ahead of print.ABSTRACTThe aim of the present study was to compare the rate of preterm birth (PTB) and growth from birth to 18 years between twins conceived by in vitro fertilization (IVF) and twins conceived by spontaneous conception (SC) in mainland China. The retrospective cohort study included 1164 twins resulting from IVF and 25,654 twins conceived spontaneously, of which 494 from IVF and 6338 from SC were opposite-sex twins. PTB and low birth weight (LBW), and growth, including length/height and weight, were compared between the two groups at five ...
Source: Twin Research and Human Genetics - September 20, 2021 Category: Genetics & Stem Cells Authors: Yali Zhang Xuanming Hong Wenjing Gao Jun Lv Canqing Yu Shengfeng Wang Tao Huang Dianjianyi Sun Chunxiao Liao Zengchang Pang Min Yu Hua Wang Xianping Wu Zhong Dong Fan Wu Guohong Jiang Xiaojie Wang Yu Liu Jian Deng Lin Lu Weihua Cao Liming Li Source Type: research

Chronic Recurrent Multifocal Osteomyelitis (CRMO): A Study of 12 Cases from One Institution and Literature Review
CONCLUSION: Bone biopsy aids the diagnosis of CRMO in correlation with clinical presentation, imaging, and culture findings. Our findings indicate the kinetics of CRMO is not well defined and the fibrosis may be reached after months, in contrast to the previously reported several years. We hope that these genetic mutations can be further studied in human models to describe the genetics behind CRMO.PMID:34542007 | DOI:10.1080/15513815.2021.1978602 (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - September 20, 2021 Category: Pathology Authors: Eric Chang Jasmine Vickery Nadeen Zaiat Eman Sallam Abdul Hanan Scott Baker Mohamed Alhamar Janet Poulik Ereny Demian Bahig M Shehata Source Type: research

The evolution of the GALactose utilization pathway in budding yeasts
Trends Genet. 2021 Sep 15:S0168-9525(21)00256-0. doi: 10.1016/j.tig.2021.08.013. Online ahead of print.ABSTRACTThe Leloir galactose utilization or GAL pathway of budding yeasts, including that of the baker's yeast Saccharomyces cerevisiae and the opportunistic human pathogen Candida albicans, breaks down the sugar galactose for energy and biomass production. The GAL pathway has long served as a model system for understanding how eukaryotic metabolic pathways, including their modes of regulation, evolve. More recently, the physical linkage of the structural genes GAL1, GAL7, and GAL10 in diverse budding yeast genomes has be...
Source: Trends in Genetics : TIG - September 20, 2021 Category: Genetics & Stem Cells Authors: Marie-Claire Harrison Abigail L LaBella Chris Todd Hittinger Antonis Rokas Source Type: research

RNF43 Pathogenic Germline Variant in a Family with Colorectal Cancer
This report presents our findings of two individuals with CRC from a single family carrying a likely-pathogenic inherited germline variant in RNF43. The proband (III:1) and the proband's mother (II:2) were diagnosed with mismatch repair proficient CRCs at the age of 50 years and 65 years, respectively. Both patients had BRAFV600E mutated colon tumours, indicating that the CRCs arose in sessile serrated lesions. The germline variant RNF43:c.375+1G>A was identified in both patients. RNA studies showed that this variant resulted in an aberrantly spliced transcript which was predicted to encode RNF43:p.Ala126Ilefs*50 result...
Source: Clinical Genetics - September 20, 2021 Category: Genetics & Stem Cells Authors: Reger R Mikaeel Joanne P Young Yun Li Nicola K Poplawski Eric Smith Mehgan Horsnell Wendy Uylaki Yoko Tomita Amanda R Townsend Jinghua Feng Arne Zibat Silke Kaulfu ß Christian M üller G ökhan Yigit Bernd Wollnik Hamish Scott Lesley Rawlings Henry Denae Source Type: research

Recommendations for Clinical Decision-making in Children with Type 1 Diabetes and Celiac Disease: Type 1 Diabetes and Celiac Disease Joint Working Group Report
J Clin Res Pediatr Endocrinol. 2021 Aug 18. doi: 10.4274/jcrpe.galenos.2021.2021.0139. Online ahead of print.ABSTRACTIt is well-known that in children with type 1 diabetes (T1D), the frequency of celiac disease (CD) is increased due to unclear mechanisms including autoimmune injury as well as shared genetic predisposition. Although histopathologic examination is gold standard, avoiding unnecessary endoscopy is crucial. Therefore, from the perspective of the clinicians and patients' families, the diagnosis of celiac disease remains challenging. With these in mind, a joint working group (Type 1 Diabetes and Celiac Disease Jo...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 20, 2021 Category: Endocrinology Authors: Şükrü Hatun Buket Dalg ıç Damla G ökşen Sema Aydo ğdu Şenay Savaş Erdeve Zarife Kulo ğu Ya şar Doğan Zehra Aycan G ül Yeşiltepe Mutlu Nuray Uslu K ızılkan Alev Keser Ömer Faruk Beşer Mehmet Nuri Özbek Aysun Bideci Deniz Ertem Olcay Evl Source Type: research

miR-511-5p Suppresses Cell Migration, Invasion and Epithelial-Mesenchymal Transition Through Targeting PAK2 in Gastric Cancer
Biochem Genet. 2021 Sep 20. doi: 10.1007/s10528-021-10126-y. Online ahead of print.ABSTRACTAs a malignant tumor, gastric cancer (GC) is closely related with gastric mucosa and has a high mortality in the world. Since microRNA (miRNA) has become more and more important in tumor research, we intend to find out the functional role and mechanism of miR-511-5p in GC. Firstly, miR-511-5p level was examined in human GC cell lines and tissues, and its effect on cell migration and invasion of BGC-823 or HGC-27 cells was tested by migration assay and transwell assay. Then, we confirmed the association between miR-511-5p and p21 acti...
Source: Biochemical Genetics - September 20, 2021 Category: Genetics & Stem Cells Authors: Wenjing Yong Ke Zhang Youming Deng Weisen Tang Ran Tao Source Type: research

Time-dependent inhibition of CYP3A4-mediated midazolam metabolism by macrolide antibiotics in CYP3A4 genetic variants: Comparison with testosterone metabolism
CONCLUSION: The genetic variation of recombinant CYP3A4 affects the MBI profile of CYP3A4 by erythromycin and clarithromycin, while the influence of genetic variation was similarly observed regardless of substrates. Our findings are of clinical relevance because the residual enzyme activity of CYP3A4 in the presence of inhibitor was estimated to vary among genetic variants.PMID:34542401 | DOI:10.5414/CP203896 (Source: International Journal of Clinical Pharmacology and Therapeutics)
Source: International Journal of Clinical Pharmacology and Therapeutics - September 20, 2021 Category: Drugs & Pharmacology Authors: Takeshi Akiyoshi Rina Naitou Ayuko Imaoka Mitsue Miyazaki F Peter Guengerich Katsunori Nakamura Koujiro Yamamoto Hisakazu Ohtani Source Type: research

Translational medicine in hereditary hemorrhagic telangiectasia
Eur J Intern Med. 2021 Sep 16:S0953-6205(21)00303-4. doi: 10.1016/j.ejim.2021.09.003. Online ahead of print.ABSTRACTScientific community have gained lots of new insights in the genetic and biochemical background of different conditions, rare diseases included, settling the basis for preclinical models that are helping to identify new biomarkers and therapeutic targets. Translational Medicine (TM) is an interdisciplinary area of biomedicine with an essential role in bench-to-bedside transition enhancement, generating a circular flow of knowledge transference between research environment and clinical setting, always centered...
Source: European Journal of Internal Medicine - September 20, 2021 Category: Internal Medicine Authors: A Riera-Mestre P Cerd à A Iriarte M Graupera F Vi ñals Source Type: research

Exploring the Pleiotropic Genes and Therapeutic Targets Associated with Heart Failure and Chronic Kidney Disease by Integrating metaCCA and SGLT2 Inhibitors' Target Prediction
CONCLUSION: We identified novel variants associated with HF and CKD using effectively incorporating information from different GWAS datasets. Our analysis may provide new insights into HF and CKD therapeutic approaches based on the pleiotropic genes, common targets, and mechanisms by integrating the metaCCA method, TWAS and VEGAS2 analyses, and target prediction of SGLT2 inhibitors.PMID:34540994 | PMC:PMC8443964 | DOI:10.1155/2021/4229194 (Source: Biomed Res)
Source: Biomed Res - September 20, 2021 Category: Research Authors: Huanqiang Li Ziling Mai Sijia Yu Bo Wang Wenguang Lai Guanzhong Chen Chunyun Zhou Jin Liu Yongquan Yang Shiqun Chen Yong Liu Jiyan Chen Source Type: research

Application of Genetic Algorithm-Based Support Vector Machine in Identification of Gene Expression Signatures for Psoriasis Classification: A Hybrid Model
CONCLUSIONS: The results showed that the genetic algorithm improved the SVM classifier performance significantly implying the ability of the proposed model in terms of detecting relevant gene expression signatures as the best features.PMID:34540995 | PMC:PMC8443357 | DOI:10.1155/2021/5520710 (Source: Biomed Res)
Source: Biomed Res - September 20, 2021 Category: Research Authors: Leili Tapak Saeid Afshar Mahlagha Afrasiabi Mohammad Kazem Ghasemi Pedram Alirezaei Source Type: research

Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta
We present a cohort of six patients with molecularly confirmed vEDS and one patient with a severe form of OI, who each had expanded (or dilated), protein-filled, rough endoplasmic reticulum identified on transmission electron microscopy. The patients were identified through retrospective screening of medical records, and biopsies were taken between 1999-2016. We discuss the potential role for assessing rough endoplasmic reticulum expansion as a useful tool to allow further phenotyping of these individuals.PMID:34538206 | DOI:10.1080/01913123.2021.1979703 (Source: Ultrastructural Pathology)
Source: Ultrastructural Pathology - September 20, 2021 Category: Pathology Authors: Melody G Redman Bart E Wagner Sophie Cadden Duncan Baker Jessica M Bowen Diana Johnson Glenda Sobey Meena Balasubramanian Source Type: research

Congenital disorders of estrogen biosynthesis and action
Best Pract Res Clin Endocrinol Metab. 2021 Sep 13:101580. doi: 10.1016/j.beem.2021.101580. Online ahead of print.ABSTRACTEstrogens regulate pubertal development and reproductive function in women, spermatogenesis in men, and bone turnover and metabolic conditions in individuals of both sexes. Estradiol, the major estrogen in humans, is synthesized from testosterone by the action of aromatase and exerts its effects though binding to estrogen receptors. Germline loss- and gain-of-function variants in CYP19A1, the gene encoding aromatase, lead to aromatase deficiency and aromatase excess syndrome, respectively. Germline loss-...
Source: Clin Med Res - September 20, 2021 Category: Research Authors: Maki Fukami Tsutomu Ogata Source Type: research

Carbapenem resistance in < em > Acinetobacter baumannii < /em > clinical isolates from northwest Iran: high prevalence of OXA genes in sync
CONCLUSION: Synchronicity among bla OXA-like with bla MBL and ISAba1 gene was a hallmark of this investigation. Though origin or route of transmission was not elucidated in this study but co-existence among OXA and MBL producing genes is a therapeutic concern demanding strict surveillance strategies and control programs to halt the dissemination of these isolates in the hospital setting.PMID:34540166 | PMC:PMC8416588 | DOI:10.18502/ijm.v13i3.6388 (Source: Iranian Journal of Microbiology)
Source: Iranian Journal of Microbiology - September 20, 2021 Category: Microbiology Authors: Abolfazl Vahhabi Alka Hasani Mohammad Ahangarzadeh Rezaee Behzad Baradaran Akbar Hasani Hossein Samadi Kafil Elgar Soltani Source Type: research

vB-Ea-5: a lytic bacteriophage against multi-drug-resistant < em > Enterobacter aerogenes < /em >
CONCLUSION: Our study suggests vB-Ea-5 as a potential candidate for phage therapy against MDR E. aerogenes infections.PMID:34540158 | PMC:PMC8408028 | DOI:10.18502/ijm.v13i2.5984 (Source: Iranian Journal of Microbiology)
Source: Iranian Journal of Microbiology - September 20, 2021 Category: Microbiology Authors: Fatemeh Habibinava Mohammad Reza Zolfaghari Mohsen Zargar Salehe Sabouri Shahrbabak Mohammad Soleimani Source Type: research

Distribution of ciprofloxacin-resistance genes among ST131 and non-ST131 clones of < em > Escherichia coli < /em > isolates with ESBL phenotypes isolated from women with urinary tract infection
CONCLUSION: Management of women with UTI caused by the CIPR/ESBL+ isolates (ST131) co-harbored PMQR, ESBL, and chromosomal mutations, is important for their effective therapy.PMID:34540167 | PMC:PMC8416580 | DOI:10.18502/ijm.v13i3.6389 (Source: Iranian Journal of Microbiology)
Source: Iranian Journal of Microbiology - September 20, 2021 Category: Microbiology Authors: Masoumeh Rasoulinasab Fereshteh Shahcheraghi Mohammad Mehdi Feizabadi Bahram Nikmanesh Azade Hajihasani Mohammad Mehdi Aslani Source Type: research

Coexistence of aminoglycoside resistance genes in CTX-M-producing isolates of < em > Klebsiella pneumoniae < /em > in Bushehr province, Iran
CONCLUSION: This study provides evidence of a high prevalence of AME genes in CTX-M-producing K. pneumoniae isolates; therefore, in the initial empirical treatment of infections caused by ESBL-KP in regions with such antibiotic resistance patterns, aminoglycoside combination therapy should be undertaken carefully.PMID:34540150 | PMC:PMC8408026 | DOI:10.18502/ijm.v13i2.5975 (Source: Iranian Journal of Microbiology)
Source: Iranian Journal of Microbiology - September 20, 2021 Category: Microbiology Authors: Behrouz Latifi Saeed Tajbakhsh Leila Ahadi Forough Yousefi Source Type: research

Bioinformatic analysis of the whole genome sequences of SARS-CoV-2 from Indonesia
CONCLUSION: The analysis of SARS-CoV-2 from WGS Indonesia showed a high genetic variation. The diversity in SARS-CoV-2 may epidemiologically enhance virulence and transmission of this virus. The prevalence of D614G over the time in different locations, indicating that changes in this mutation may related to host infection and the viral transmission. However, some mutations that have been reported in this study were not eligible for the most stable conformation.PMID:34540148 | PMC:PMC8408024 | DOI:10.18502/ijm.v13i2.5973 (Source: Iranian Journal of Microbiology)
Source: Iranian Journal of Microbiology - September 20, 2021 Category: Microbiology Authors: Maria Ulfah Is Helianti Source Type: research

Could the burden of pancreatic cancer originate in childhood?
World J Gastroenterol. 2021 Aug 28;27(32):5322-5340. doi: 10.3748/wjg.v27.i32.5322.ABSTRACTThe presence of pancreatic cancer during childhood is extremely rare, and physicians may be tempted to overlook this diagnosis based on age criteria. However, there are primary malignant pancreatic tumors encountered in pediatric patients, such as pancreatoblastoma, and tumors considered benign in general but may present a malignant potential, such as the solid pseudo-papillary tumor, insulinoma, gastrinoma, and vasoactive intestinal peptide secreting tumor. Their early diagnosis and management are of paramount importance since the s...
Source: World Journal of Gastroenterology - September 20, 2021 Category: Gastroenterology Authors: Smaranda Diaconescu Georgiana Emmanuela G îlcă-Blanariu Silvia Poamaneagra Otilia Marginean Gabriela Paduraru Gabriela Stefanescu Source Type: research

Could the burden of pancreatic cancer originate in childhood?
World J Gastroenterol. 2021 Aug 28;27(32):5322-5340. doi: 10.3748/wjg.v27.i32.5322.ABSTRACTThe presence of pancreatic cancer during childhood is extremely rare, and physicians may be tempted to overlook this diagnosis based on age criteria. However, there are primary malignant pancreatic tumors encountered in pediatric patients, such as pancreatoblastoma, and tumors considered benign in general but may present a malignant potential, such as the solid pseudo-papillary tumor, insulinoma, gastrinoma, and vasoactive intestinal peptide secreting tumor. Their early diagnosis and management are of paramount importance since the s...
Source: World Journal of Gastroenterology : WJG - September 20, 2021 Category: Gastroenterology Authors: Smaranda Diaconescu Georgiana Emmanuela G îlcă-Blanariu Silvia Poamaneagra Otilia Marginean Gabriela Paduraru Gabriela Stefanescu Source Type: research

C-reactive protein and risk of Alzheimer's disease
This study indicates that genetically predicted elevated CRP levels may be a causal risk factor for AD.PMID:34538509 | DOI:10.1016/j.neurobiolaging.2021.08.010 (Source: Neurobiology of Aging)
Source: Neurobiology of Aging - September 20, 2021 Category: Geriatrics Authors: Zhizhong Zhang Mengmeng Wang Xinfeng Liu Source Type: research

RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts
Neurobiol Aging. 2021 Aug 21:S0197-4580(21)00263-3. doi: 10.1016/j.neurobiolaging.2021.08.009. Online ahead of print.ABSTRACTParkinson's disease (PD) is a complex neurodegenerative disorder in which both rare and common genetic variants contribute to disease risk. Multiple genes have been reported to be linked to monogenic PD but these only explain a fraction of the observed familial aggregation. Rare variants in RIC3 have been suggested to be associated with PD in the Indian population. However, replication studies yielded inconsistent results. We further investigate the role of RIC3 variants in PD in European cohorts usi...
Source: Neurobiology of Aging - September 20, 2021 Category: Geriatrics Authors: Kajsa Brolin Sara Bandres-Ciga Hampton Leonard Mary B Makarious Cornelis Blauwendraat Ignacio F Mata Jia Nee Foo Lasse Pihlstr øm Maria Swanberg Ziv Gan-Or Manuela Mx Tan International Parkinson's Disease Genomics Consortium Source Type: research

Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians
Introduction: Subjective tinnitus, a perception of phantom sound, is a common otological condition that affects almost 15% of the general population. It is known that noise-induced hearing loss (NIHL) and tinnitus exhibit a high level of comorbidity in individuals exposed to intense noise and music. However, the influence of genetic variants associated with NIHL on tinnitus remains elusive. We hypothesized that young musicians carrying genetic variants associated with NIHL would exhibit a higher prevalence of tinnitus than their counterparts. Methods: To test this hypothesis, we analyzed the database by Bhatt et...
Source: Otology and Neurotology - September 20, 2021 Category: ENT & OMF Tags: AUDIOLOGY Source Type: research

GSE184362 Single-cell sequencing of tumor ecosystems in papillary thyroid carcinoma
Contributors : Weilin Pu ; Xiao Shi ; Pengcheng Yu ; Meiying Zhang ; Xiaoming Zhang ; Yulong WangSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensThe tumor ecosystem of papillary thyroid carcinoma (PTC) is poorly characterized. Using single-cell RNA sequencing, we profiled transcriptomes of 158,577 cells from 11 patients ’ paratumors, localized/advanced tumors, initially-treated/recurrent lymph nodes and radioactive iodine (RAI)-refractory distant metastases, covering comprehensive clinical courses of PTC.Our study illuminates a comprehensive landscape of PTC ecosystem that sugge...
Source: GEO: Gene Expression Omnibus - September 20, 2021 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

Mechanisms of Pharmacoresistance in Hepatocellular Carcinoma: New Drugs but Old Problems
Semin Liver Dis DOI: 10.1055/s-0041-1735631Hepatocellular carcinoma (HCC) is a malignancy with poor prognosis when diagnosed at advanced stages in which curative treatments are no longer applicable. A small group of these patients may still benefit from transarterial chemoembolization. The only therapeutic option for most patients with advanced HCC is systemic pharmacological treatments based on tyrosine kinase inhibitors (TKIs) and immunotherapy. Available drugs only slightly increase survival, as tumor cells possess additive and synergistic mechanisms of pharmacoresistance (MPRs) prior to or enhanced during treatment. Un...
Source: Seminars in Liver Disease - September 20, 2021 Category: Gastroenterology Authors: Marin, Jose J.G. Romero, Marta R. Herraez, Elisa Asensio, Maitane Ortiz-Rivero, Sara Sanchez-Martin, Anabel Fabris, Luca Briz, Oscar Tags: Review Article Source Type: research

Variants of < i > MIRNA146A < /i > rs2910164 and < i > MIRNA499 < /i > rs3746444 are associated with the development of cutaneous leishmaniasis caused by < i > Leishmania guyanensis < /i > and with plasma chemokine IL-8
by Tirza Gabrielle Ramos de Mesquita, Jos é do Espírito Santo Junior, Thais Carneiro de Lacerda, Krys Layane Guimarães Duarte Queiroz, Cláudio Marcello da Silveira Júnior, José Pereira de Moura Neto, Lissianne Augusta Matos Gomes, Mara Lúcia Gomes de Souza, Marcus Vinitius de Farias Guerra, Rajendranath RamasawmyLeishmania are intracellular protozoan parasites that cause a wide spectrum of clinical manifestations in genetically susceptible individuals with an insufficient or balanced Th1 immune response to eliminate the parasite. MiRNAs play important regulatory role in nume...
Source: PLoS Neglected Tropical Diseases - September 20, 2021 Category: Tropical Medicine Authors: Tirza Gabrielle Ramos de Mesquita Source Type: research

Extracellular matrix protein N-glycosylation mediates immune self-tolerance in Drosophila melanogaster [Genetics]
In order to respond to infection, hosts must distinguish pathogens from their own tissues. This allows for the precise targeting of immune responses against pathogens and also ensures self-tolerance, the ability of the host to protect self tissues from immune damage. One way to maintain self-tolerance is to evolve a... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - September 20, 2021 Category: Science Authors: Nathan T. Mortimer, Mary L. Fischer, Ashley L. Waring, Pooja KR, Balint Z. Kacsoh, Susanna E. Brantley, Erin S. Keebaugh, Joshua Hill, Chris Lark, Julia Martin, Pravleen Bains, Jonathan Lee, Alysia D. Vrailas-Mortimer, Todd A. Schlenke Tags: Genetics Biological Sciences Source Type: research

Modern Siberian dog ancestry was shaped by several thousand years of Eurasian-wide trade and human dispersal [Anthropology]
Dogs have been essential to life in the Siberian Arctic for over 9,500 y, and this tight link between people and dogs continues in Siberian communities. Although Arctic Siberian groups such as the Nenets received limited gene flow from neighboring groups, archaeological evidence suggests that metallurgy and new subsistence strategies... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - September 20, 2021 Category: Science Authors: Tatiana R. Feuerborn, Alberto Carmagnini, Robert J. Losey, Tatiana Nomokonova, Arthur Askeyev, Igor Askeyev, Oleg Askeyev, Ekaterina E. Antipina, Martin Appelt, Olga P. Bachura, Fiona Beglane, Daniel G. Bradley, Kevin G. Daly, Shyam Gopalakrishnan, Kristi Tags: Anthropology, Genetics Biological Sciences Source Type: research

Evolutionary dynamics of circular RNAs in primates
Many primate genes produce circular RNAs (circRNAs). However, the extent of circRNA conservation between closely related species remains unclear. By comparing tissue-specific transcriptomes across over 70 million years of primate evolution, we identify that within 3 million years circRNA expression profiles diverged such that they are more related to species identity than organ type. However, our analysis also revealed a subset of circRNAs with conserved neural expression across tens of millions of years of evolution. By comparing to species-specific circRNAs, we identified that the downstream intron of the conserved circR...
Source: eLife - September 20, 2021 Category: Biomedical Science Tags: Evolutionary Biology Genetics and Genomics Source Type: research

Circular RNA repertoires are associated with evolutionarily young transposable elements
Circular RNAs (circRNAs) are found across eukaryotes and can function in post-transcriptional gene regulation. Their biogenesis through a circle-forming backsplicing reaction is facilitated by reverse-complementary repetitive sequences promoting pre-mRNA folding. Orthologous genes from which circRNAs arise, overall contain more strongly conserved splice sites and exons than other genes, yet it remains unclear to what extent this conservation reflects purifying selection acting on the circRNAs themselves. Our analyses of circRNA repertoires from five species representing three mammalian lineages (marsupials, eutherians: rod...
Source: eLife - September 20, 2021 Category: Biomedical Science Tags: Evolutionary Biology Genetics and Genomics Source Type: research

SMA-miRs: miR-181a-5p, -324-5p, -451a are overexpressed in spinal muscular atrophy skeletal muscle and serum samples
(Source: eLife)
Source: eLife - September 20, 2021 Category: Biomedical Science Tags: Genetics and Genomics Medicine Source Type: research

Follistatin mediates learning and synaptic plasticity via regulation of Asic4 expression in the hippocampus [Neuroscience]
The biological mechanisms underpinning learning are unclear. Mounting evidence has suggested that adult hippocampal neurogenesis is involved although a causal relationship has not been well defined. Here, using high-resolution genetic mapping of adult neurogenesis, combined with sequencing information, we identify follistatin (Fst) and demonstrate its involvement in learning and adult... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - September 20, 2021 Category: Science Authors: Yu-Ju Chen, Shin-Meng Deng, Hui-Wen Chen, Chi-Hui Tsao, Wei-Ting Chen, Sin-Jhong Cheng, Hsien-Sung Huang, Bertrand Chin-Ming Tan, Martin M. Matzuk, Jonathan Flint, Guo-Jen Huang Tags: Neuroscience Biological Sciences Source Type: research

Model and modelers provide an insight into pairing of homologous DNA duplexes [Genetics]
How homologous DNA duplexes in chromosomes are checked for correct alignment prior to exchange of genetic information during meiosis in Eukaryotes is a longstanding puzzle (1), a gap in our knowledge of the molecular processes essential for evolution in the more complex cellular organisms that include fungi, plants, and primates.... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - September 20, 2021 Category: Science Authors: David E. A. Catcheside Tags: Genetics, Commentaries Commentary Source Type: research

Maturation of Purkinje cell firing properties relies on neurogenesis of excitatory neurons
Preterm infants that suffer cerebellar insults often develop motor disorders and cognitive difficulty. Excitatory granule cells, the most numerous neuron type in the brain, are especially vulnerable and likely instigate disease by impairing the function of their targets, the Purkinje cells. Here, we use regional genetic manipulations and in vivo electrophysiology to test whether excitatory neurons establish the firing properties of Purkinje cells during postnatal mouse development. We generated mutant mice that lack the majority of excitatory cerebellar neurons and tracked the structural and functional consequences on Purk...
Source: eLife - September 20, 2021 Category: Biomedical Science Tags: Developmental Biology Neuroscience Source Type: research

Biomedical Data Commons (BMDC) prioritizes B-lymphocyte non-coding genetic variants in Type 1 Diabetes
by Samantha N. Piekos, Sadhana Gaddam, Pranav Bhardwaj, Prashanth Radhakrishnan, Ramanathan V. Guha, Anthony E. Oro The repurposing of biomedical data is inhibited by its fragmented and multi-formatted nature that requires redundant investment of time and resources by data scientists. This is particularly true for Type 1 Diabetes (T1D), one of the most intensely studied common childhood diseases. Intense invest igation of the contribution of pancreatic β-islet and T-lymphocytes in T1D has been made. However, genetic contributions from B-lymphocytes, which are known to play a role in a subset of T1D patients, remain r...
Source: PLoS Computational Biology - September 20, 2021 Category: Biology Authors: Samantha N. Piekos Source Type: research

A reverse vaccinology and immunoinformatics approach for designing a multiepitope vaccine against SARS-CoV-2
AbstractSince 2019, the world was involved with SARS-CoV-2 and consequently, with the announcement by the World Health Organization that COVID-19 was a pandemic, scientific were an effort to obtain the best approach to combat this global dilemma. The best way to prevent the pandemic from spreading further is to use a vaccine against COVID-19. Here, we report the design of a recombinant multi-epitope vaccine against the four proteins spike or crown (S), membrane (M), nucleocapsid (N), and envelope (E) of SARS-CoV-2 using immunoinformatics tools. We evaluated the most antigenic epitopes that bind to HLA class 1 subtypes, alo...
Source: Immunogenetics - September 20, 2021 Category: Genetics & Stem Cells Source Type: research

Elevated transcription of transposable elements is accompanied by het-siRNA-driven de novo DNA methylation in grapevine embryogenic callus
Somatic variation is a valuable source of trait diversity in clonally propagated crops. In grapevine, which has been clonally propagated worldwide for centuries, important phenotypes such as white berry colour... (Source: BMC Genomics)
Source: BMC Genomics - September 20, 2021 Category: Genetics & Stem Cells Authors: Darrell Lizamore, Ross Bicknell and Chris Winefield Tags: Research article Source Type: research

Genome-wide identification and expression profile under abiotic stress of the barley non-specific lipid transfer protein gene family and its Qingke Orthologues
Plant non-specific lipid transfer proteins (nsLTPs), a group of small, basic ubiquitous proteins to participate in lipid transfer, cuticle formation and stress response, are involved in the regulation of plant... (Source: BMC Genomics)
Source: BMC Genomics - September 20, 2021 Category: Genetics & Stem Cells Authors: Jiecuo Duo, Huiyan Xiong, Xiongxiong Wu, Yuan Li, Jianping Si, Chao Zhang and Ruijun Duan Tags: Research Source Type: research

Genes, Vol. 12, Pages 1449: Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)
na Zachwieja Maria Szczepanska Katarzyna Taranta-Janusz Pawel Kroll Marcin Polok Marcin Zaniew Alina C. Hilger Lower urinary tract obstruction (LUTO) is, in most cases, caused by anatomical blockage of the bladder outlet. The most common form are posterior urethral valves (PUVs), a male-limited phenotype. Here, we surveyed the genome of 155 LUTO patients to identify disease-causing CNVs. Raw intensity data were collected for CNVs detected in LUTO patients and 4.392 healthy controls using CNVPartition, QuantiSNP and PennCNV. Overlapping CNVs between patients and controls were discarded. Additional filtering ...
Source: Genes - September 20, 2021 Category: Genetics & Stem Cells Authors: Luca M. Schierbaum Sophia Schneider Stefan Herms Sugirthan Sivalingam Julia Fabian Heiko Reutter Stefanie Weber Waltraut M. Merz Marcin Tkaczyk Monika Miklaszewska Przemyslaw Sikora Agnieszka Szmigielska Grazyna Krzemien Katarzyna Zachwieja Maria Szczepan Tags: Article Source Type: research

Genes, Vol. 12, Pages 1450: Variation and Selection in the Putative Sperm-Binding Region of ZP3 in Muroid Rodents: A Comparison between Cricetids and Murines
astos-Silveira In mammals, the zona pellucida glycoprotein 3 (ZP3) is considered a primary sperm receptor of the oocyte and is hypothesized to be involved in reproductive isolation. We investigated patterns of diversity and selection in the putative sperm-binding region (pSBR) of mouse ZP3 across Cricetidae and Murinae, two hyperdiverse taxonomic groups within muroid rodents. In murines, the pSBR is fairly conserved, in particular the serine-rich stretch containing the glycosylation sites proposed as essential for sperm binding. In contrast, cricetid amino acid sequences of the pSBR were much more variable and the seri...
Source: Genes - September 20, 2021 Category: Genetics & Stem Cells Authors: Margarida Alexandra Duarte Carlos Rodr íguez Fernandes Gerald Heckel Maria da Luz Mathias Cristiane Bastos-Silveira Tags: Article Source Type: research

Genes, Vol. 12, Pages 1447: Emerging Role of isomiRs in Cancer: State of the Art and Recent Advances
lessandra Tessitore The advent of Next Generation Sequencing technologies brought with it the discovery of several microRNA (miRNA) variants of heterogeneous lengths and/or sequences. Initially ascribed to sequencing errors/artifacts, these isoforms, named isomiRs, are now considered non-canonical variants that originate from physiological processes affecting the canonical miRNA biogenesis. To date, accurate IsomiRs abundance, biological activity, and functions are not completely understood; however, the study of isomiR biology is an area of great interest due to their high frequency in the human miRNome, their putativ...
Source: Genes - September 20, 2021 Category: Genetics & Stem Cells Authors: Veronica Zelli Chiara Compagnoni Roberta Capelli Alessandra Corrente Jessica Cornice Davide Vecchiotti Monica Di Padova Francesca Zazzeroni Edoardo Alesse Alessandra Tessitore Tags: Review Source Type: research

Antagonistic relationship of NuA4 with the non-homologous end-joining machinery at DNA damage sites
by Salar Ahmad, Val érie Côté, Xue Cheng, Gaëlle Bourriquen, Vasileia Sapountzi, Mohammed Altaf, Jacques Côté The NuA4 histone acetyltransferase complex, apart from its known role in gene regulation, has also been directly implicated in the repair of DNA double-strand breaks (DSBs), favoring homologous recombination (HR) in S/G2 during the cell cycle. Here, we investigate the antagonistic relationship of NuA4 with non-homologous end joining (NHEJ) factors. We show that budding yeast Rad9, the 53BP1 ortholog, can inhibit NuA4 acetyltransferase activity when bound to chromatinin vitro. ...
Source: PLoS Genetics - September 20, 2021 Category: Genetics & Stem Cells Authors: Salar Ahmad Source Type: research