Quantitative gene expression dynamics of key placode signalling factors in the embryonic chicken scleral ossicle system
Publication date: Available online 2 August 2020Source: Gene Expression PatternsAuthor(s): Jennifer L. Giffin, Tamara A. Franz-Odendaal (Source: Gene Expression Patterns)
Source: Gene Expression Patterns - August 3, 2020 Category: Genetics & Stem Cells Source Type: research

Aristolochic acid and its effect on different cancers in uro-oncology
Purpose of review To acquaint urologists with aristolochic acid nephropathy, an iatrogenic disease that poses a distinct threat to global public health. In China alone, 100 million people may currently be at risk. We illustrate the power of molecular epidemiology in establishing the cause of this disease. Recent findings Molecular epidemiologic approaches and novel mechanistic information established a causative linkage between exposure to aristolochic acid and urothelial carcinomas of the bladder and upper urinary tract. Noninvasive tests are available that detect urothelial cancers through the genetic analysis of ur...
Source: Current Opinion in Urology - August 3, 2020 Category: Urology & Nephrology Tags: CONTROVERSIES IN UROLOGY: Edited by Shahrokh F. Shariat Source Type: research

Imaging Alzheimer's genetic risk using Diffusion MRI: a systematic review
Publication date: Available online 22 July 2020Source: NeuroImage: ClinicalAuthor(s): Judith R Harrison, Sanchita Bhatia, Zhao Xuan Tan, Anastasia Mirza-Davies, Hannah Benkert, Chantal MW Tax, Derek K Jones (Source: NeuroImage: Clinical)
Source: NeuroImage: Clinical - August 3, 2020 Category: Radiology Source Type: research

GSE155539 A High Docosahexaenoic Acid Diet Alters the Lung Inflammatory Response to Acute Dust Exposure
Contributors : Tara M Nordgren ; Edward C Dominguez ; Art J Heires ; Jacqueline Pavlik ; Tricia D Larsen ; Stephanie Guardado ; Joseph H Sisson ; Michelle L Baack ; Debra J RombergerSeries Type : OtherOrganism : Mus musculusAgricultural workers are at risk for the development of acute and chronic lung diseases due to their exposure to organic agricultural dusts. A diet intervention using the omega-3 fatty acid docosahexaenoic acid (DHA) has been shown to be an effective therapeutic approach for alleviating a dust-induced inflammatory response. We thus hypothesized a high-DHA diet would alter the dust-induced inflammatory r...
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Other Mus musculus Source Type: research

Virtual Machine Placement Strategy for Self-driving Using Cluster-based Genetic Algorithm
Publication date: Available online 1 August 2020Source: NeurocomputingAuthor(s): Binbin Zhang, Xiao Wang, Hao Wang (Source: Neurocomputing)
Source: Neurocomputing - August 3, 2020 Category: Neuroscience Source Type: research

Ectodysplasin-A2 induces dickkopf 1 expression in human balding dermal papilla cells overexpressing the ectodysplasin A2 receptor.
In this study, we investigated the expression of EDA2R in balding HFs and matched with non-balding HFs. The EDA2R level was upregulated in the balding dermal papilla (DP) cells compared with non-balding DP cells derived from patients with AGA. However, EDA2R was strongly expressed in both balding and non-balding outer root sheath (ORS) cells. We screened EDA-A2-regulated genes in balding DP cells and identified dickkopf 1 (DKK-1) as catagen inducer during the hair cycle. The mRNA and protein expression levels of DKK-1 were both upregulated by EDA-A2. In addition, DKK-1 expression was induced by EDA-A2 both in cultured huma...
Source: Biochemical and Biophysical Research communications - August 3, 2020 Category: Biochemistry Authors: Kwack MH, Jun MS, Sung YK, Kim JC, Kim MK Tags: Biochem Biophys Res Commun Source Type: research

The role of novel fusion genes in human GIST cell lines derived from imatinib-resistant GIST patients: A therapeutic potential of fusion gene.
In conclusion, five different imatinib-resistant GIST cell lines including the EXOC2-AK7 fusion gene derived from GIST-R5 represent important research tools for the investigation of cancer cell mechanisms underlying drug resistance and genetic variation. Furthermore, our study may facilitate pre-clinical studies of new therapeutic strategies. PMID: 32736695 [PubMed - as supplied by publisher] (Source: Biochemical and Biophysical Research communications)
Source: Biochemical and Biophysical Research communications - August 3, 2020 Category: Biochemistry Authors: Cho WC, Shin YK, Na YS, Ryu MH, Ku JL, Kang YK Tags: Biochem Biophys Res Commun Source Type: research

Genetic knockout and pharmacologic inhibition of NCX1 attenuate hypoxia-induced pulmonary arterial hypertension.
Abstract The Na+/Ca2+ exchanger type-1 (NCX1) is a bidirectional transporter that is controlled by membrane potential and transmembrane gradients of Na+ and Ca2+. Vascular smooth muscle NCX1 plays an important role in intracellular Ca2+ homeostasis and Ca2+ signaling. We found that NCX1 was upregulated in the pulmonary arteries of mice exposed to chronic hypoxia (10% O2 for 4 weeks). Hence, we investigated the pathophysiological role of NCX1 in hypoxia-induced pulmonary arterial hypertension (PAH), using NCX1-heterozygous (NCX1+/-) mice, in which NCX1 expression is reduced by half, and SEA0400, a specific NCX1 inh...
Source: Biochemical and Biophysical Research communications - August 3, 2020 Category: Biochemistry Authors: Nagata A, Tagashira H, Kita S, Kita T, Nakajima N, Abe K, Iwasaki A, Iwamoto T Tags: Biochem Biophys Res Commun Source Type: research

On the suppression of Forensic Science International: Genetics from the 2019 Journal Citations Report
Publication date: Available online 28 July 2020Source: Forensic Science International: GeneticsAuthor(s): Angel Carracedo, John M. Butler, Leonor Gusmao, Adrian Linacre, Walther Parson, Peter M. Schneider, Peter M. Vallone, Marielle Vennemann (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - August 3, 2020 Category: Forensic Medicine Source Type: research

GSE102195 miRNA expression alterations in vildagliptin treated rats arota
Contributors : Qian Zhang ; Xinhua Xiao ; Jia Zheng ; Ming Li ; Miao Yu ; Fan Ping ; Cuijuan Qi ; Tong Wang ; Xiaojing Wang ; Liyuan ZhouSeries Type : Non-coding RNA profiling by arrayOrganism : Rattus norvegicus ; synthetic constructvildagliptin may distrub miRNA expression in diabetic rats arota (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Non-coding RNA profiling by array Rattus norvegicus synthetic construct Source Type: research

GSE109610 Gene expression analysis of wildtype AML12 versus VWA8-null AML12 cells
Contributors : Dawn K Coletta ; Moulun Luo ; Lawrence J MandarinoSeries Type : Expression profiling by arrayOrganism : Mus musculusTo obtain a more complete picture of gene expression changes induced by deletion of VWA8 null cells, Affymetrix microarray analysis of gene expression was carried out using RNA isolated from wildtype and VWA8-null AML12 cells. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by array Mus musculus Source Type: research

GSE131451 Transcriptomics revealed the impact of the translational inhibitor tigecycline on Acinetobacter baumannii
Contributors : Liping Li ; Karl A Hassan ; Ian T Paulsen ; Sasha G TetuSeries Type : Expression profiling by high throughput sequencingOrganism : Acinetobacter baumanniiWe applied RNA sequencing (RNA-Seq) to define the global changes in A. baumannii gene transcription in response to tigecycline exposure. Tigecycline treatment resulted in increased expression of genes involved in translational initiation, but decreased expression of genes involved in translational elongation, consistent with ribosomal stalling occurring. We also observed a decrease in expression of genes from the TCA cycle, respiration, cell division, and p...
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Acinetobacter baumannii Source Type: research

GSE138341 The 18S rRNA m6A methyltransferase METTL5 promotes mouse embryonic stem cell differentiation
Contributors : Ming Xing ; Hao Chen ; Qi Liu ; Honghui MaSeries Type : OtherOrganism : Mus musculusInput mRNAs and ribosome protected fragments (RPFs) from wildtype and Mettl5 knockout (KO) mESC cells were analyzed by TruSeq Ribo Profile (Illumina) library preparation and high throughput sequencing (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Other Mus musculus Source Type: research

GSE138544 Reduced Expression of ARID3a in Human Hematopoietic Stem Cells Contributes to Age-Related Reduction in B Lineage Development
Contributors : Carol Webb ; Michelle RatliffSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensAging results in altered gene expression patters in HSCs expressing ARID3A transcirpts, with a number of genes downregulated in aged donor ARID3a+ HSCs compared to young donor ARID3a+ HSCs (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

GSE140969 Effect of HDAC inhibitor TSA on haploid embryogenesis [dataset 1]
Contributors : Charlotte Siemons ; Patricia C Martinez ; Kim BoutilierSeries Type : Expression profiling by high throughput sequencingOrganism : Brassica napusHaploid embryos can be induced from cultured immature pollen following a stress treatment. In Brassica napus, application of the histone/lysine deacetylase (HDAC/KDAC) inhibitor trichostatin A (TSA) to pollen cultures enhances the production of differentiated embryos and embryogenic callus when applied together with heat stress (Li et al., 2014). To identify genes associated with the induction of B. napus haploid embryogenesis, we compared the transcriptomes of untre...
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Brassica napus Source Type: research

GSE144468 Inflammatory Signals induce AT2 Cell-Derived Damage-Associated Transient Progenitors that Mediate Alveolar Regeneration
Contributors : Jinwook Choi ; Jong-Eun Park ; Georgia Tsagkogeorga ; Motoko Yanagita ; Bon-Kyoung Koo ; Namshik Han ; Joo-Hyeon LeeSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusTissue regeneration is a multi-step process mediated by diverse cellular hierarchies and states that are also implicated in tissue dysfunction and pathogenesis. Here, we leveraged single-cell RNA sequencing in combination with in vivo lineage tracing and organoid models to finely map the trajectories of alveolar lineage cells during injury repair and lung regeneration. We identified a distinct AT2-lineage pop...
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

GSE144553 Inflammatory Signals induce AT2 Cell-Derived Damage-Associated Transient Progenitors that Mediate Alveolar Regeneration
Series Type : Expression profiling by high throughput sequencing ; Genome binding/occupancy profiling by high throughput sequencingOrganism : Mus musculusThis SuperSeries is composed of the SubSeries listed below. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Genome binding/occupancy profiling by high throughput sequencing Mus musculus Source Type: research

GSE144598 Inflammatory Signals induce AT2 Cell-Derived Damage-Associated Transient Progenitors that Mediate Alveolar Regeneration
Contributors : Jinwook Choi ; Jong-Eun Park ; Georgia Tsagkogeorga ; Motoko Yanagita ; Bon-Kyoung Koo ; Namshik Han ; Joo-Hyeon LeeSeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Mus musculusTissue regeneration is a multi-step process mediated by diverse cellular hierarchies and states that are also implicated in tissue dysfunction and pathogenesis. Here, we leveraged single-cell RNA sequencing in combination with in vivo lineage tracing and organoid models to finely map the trajectories of alveolar lineage cells during injury repair and lung regeneration. We identified a distinct A...
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Mus musculus Source Type: research

GSE145031 Inflammatory Signals induce AT2 Cell-Derived Damage-Associated Transient Progenitors that Mediate Alveolar Regeneration
Contributors : Jinwook Choi ; Jong-Eun Park ; Georgia Tsagkogeorga ; Motoko Yanagita ; Bon-Kyoung Koo ; Namshik Han ; Joo-Hyeon LeeSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusTissue regeneration is a multi-step process mediated by diverse cellular hierarchies and states that are also implicated in tissue dysfunction and pathogenesis. Here, we leveraged single-cell RNA sequencing in combination with in vivo lineage tracing and organoid models to finely map the trajectories of alveolar lineage cells during injury repair and lung regeneration. We identified a distinct AT2-lineage pop...
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

GSE148801 HTR3A is correlated with the unfavorable histology and promotes proliferation via ERK phosphorylation in lung adenocarcinoma
Contributors : Shinichiro Tahara ; Daisuke Okuzaki ; Eiichi MoriiSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensLung cancer is the leading cause of cancer death around the world. Adenocarcinoma is the most common histological type and has various histologic subtypes: lepidic, acinar, papillary, solid, and invasive mucinous adenocarcinoma. Histologic subtypes are related to invasiveness of tumors; for example, lepidic subtype is less invasive than acinar/papillary subtype. HTR3A is the main subunit of 5-hydroxytryptamine 3 (5-HT3) receptors, which are the only ligand-gated ion channel...
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

GSE152018 Metabolic conditioning of CD8+ effector T cells for adoptive cell therapy
Contributors : Ramon I Klein Geltink ; Joy Edwards-Hicks ; Petya Apostolova ; David O ’Sullivan ; David E Sanin ; Annette E Patterson ; Daniel J Puleston ; Nina A Ligthart ; Joerg M Buesscher ; Katarzyna Grzes ; Agnieska Kabat ; Michal Stanczak ; Jonathan D Curtis ; Fabian Haessler ; Franziska M Uhl ; Mario Fabri ; Robert Zeiser ; Edward J Pearce ; Erika L PearceSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusEffector CD8+ T cell (TE) proliferation and cytokine production depends on enhanced glucose metabolism. However, circulating T cells continuously adapt to glucose fluctuati...
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

GSE152625 HUVEC gene expression in response to monocytes
Contributors : Alexandra Helmke ; Eva Roy-Chowdhury ; Sibylle von VietinghoffSeries Type : Expression profiling by arrayOrganism : Homo sapiensMonocytes are central for atherosclerotic vascular inflammation. The human non-classical, patrolling subtype, which expresses high levels of CD16 and fractalkine receptor CX3CR1, strongly associates with cardiovascular events. Compared to classical CD14+ monocytes or transwell cocultures, CD16+ monocytes enhanced endothelial STAT1 and NF κB p65 phosphorylation, upregulated expression of CX3CL1 and IL-1β, numerous CCL and CXCL chemokines and molecules promoting leukocyte p...
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by array Homo sapiens Source Type: research

GSE155114 Altered oligodendroglia and astroglia in chronic traumatic encephalopathy
Contributors : Kevin B Chancellor ; Benjamin Okaty ; Susan M DymeckiSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensChronic traumatic encephalopathy (CTE) is a progressive tauopathy found in contact sport athletes, military veterans, and others exposed to repetitive head injury. Brain white matter atrophy and axonal loss have been reported in CTE but have yet to be well characterized on a molecular or cellular level. Here, we present RNA sequencing profiles of cell nuclei from postmortem dorsolateral frontal white matter from eight individuals with neuropathologically confirmed CTE an...
Source: GEO: Gene Expression Omnibus - August 3, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

Guideline No. 404: Initial Investigation and Management of Benign Ovarian Masses.
Authors: Wolfman W, Thurston J, Yeung G, Glanc P Abstract OBJECTIVE: To provide recommendations for a systematic approach to the initial investigation and management of a benign ovarian mass and facilitate patient referral to a gynaecologic oncologist for management. INTENDED USERS: Obstetricians, gynaecologists, family physicians, internists, nurse practitioners, radiologists, general surgeons, medical students, medical residents, fellows, and other health care providers. TARGET POPULATION: Women ≥18 years of age presenting for evaluation of an ovarian mass (including simple and unilocular cystic masses...
Source: Journal of Obstetrics and Gynaecology Canada : JOGC - August 3, 2020 Category: OBGYN Tags: J Obstet Gynaecol Can Source Type: research

Functionalized gold nanoparticles with zinc finger-fused proteins as a colorimetric immunoassay platform.
Abstract The quest for highly sensitive and specific detection of disease biomarkers is high, despite many advances in analysis system. Here, we present a sensitive immunoassay platform using DNA-tethered gold nanoparticles and DNA-binding zinc fingers (ZFs). Monomeric alkaline phosphatase (mAP) and human TNF-α were employed as a signal generator and a disease biomarker, respectively. Gold nanoparticles (AuNPs) were first grafted with double-stranded DNAs having specific sequences for two different types of ZFs (QNK and zif268). The alkaline phosphatase and TNF-α-specific protein binder were geneticall...
Source: Analytica Chimica Acta - August 3, 2020 Category: Chemistry Authors: Kim D, Seo HD, Ryu Y, Kim HS Tags: Anal Chim Acta Source Type: research

A human ESC-based screen identifies a role for the translated lncRNA < i > LINC00261 < /i > in pancreatic endocrine differentiation
Long noncoding RNAs (lncRNAs) are a heterogenous group of RNAs, which can encode small proteins. The extent to which developmentally regulated lncRNAs are translated and whether the produced microproteins are relevant for human development is unknown. Using a human embryonic stem cell (hESC)-based pancreatic differentiation system, we show that many lncRNAs in direct vicinity of lineage-determining transcription factors (TFs) are dynamically regulated, predominantly cytosolic, and highly translated. We genetically ablated ten such lncRNAs, most of them translated, and found that nine are dispensable for pancreatic endocrin...
Source: eLife - August 3, 2020 Category: Biomedical Science Tags: Computational and Systems Biology Developmental Biology Source Type: research

ZCWPW1 is recruited to recombination hotspots by PRDM9, and is essential for meiotic double strand break repair
During meiosis, homologous chromosomes pair and recombine, enabling balanced segregation and generating genetic diversity. In many vertebrates, double-strand breaks (DSBs) initiate recombination within hotspots where PRDM9 binds, and deposits H3K4me3 and H3K36me3. However, no protein(s) recognising this unique combination of histone marks have been identified. We identifiedZcwpw1, containing H3K4me3 and H3K36me3 recognition domains, as having highly correlated expression withPrdm9. Here, we show that ZCWPW1 has co-evolved with PRDM9 and, in human cells, is strongly and specifically recruited to PRDM9 binding sites, with hi...
Source: eLife - August 3, 2020 Category: Biomedical Science Tags: Genetics and Genomics Source Type: research

Unraveling the mystery of Gaucher bone density pathophysiology
Publication date: Available online 1 August 2020Source: Molecular Genetics and MetabolismAuthor(s): P.A. Rozenfeld, A.N. Crivaro, M. Ormazabal, J.M. Mucci, C. Bondar, M.V. Delpino (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - August 3, 2020 Category: Genetics & Stem Cells Source Type: research

IL-17 A and IL-17 F single nucleotide polymorphisms and acute myeloid Leukemia susceptibility and response to induction therapy in Egypt
Publication date: Available online 1 August 2020Source: Meta GeneAuthor(s): Rania A. Zayed, Zainab El-Saadany, Hanan Nour Raslan, Mohammed Ghareeb, Dalia Ibraheem, Marwa Rashed, Rania Kandil, Omnia Y. Abdeldayem (Source: Meta Gene)
Source: Meta Gene - August 3, 2020 Category: Genetics & Stem Cells Source Type: research

Complexities and pitfalls in analyzing and interpreting mitochondrial DNA content in human cancer
Publication date: Available online 1 August 2020Source: Journal of Genetics and GenomicsAuthor(s): Hieu Nguyen, Thomas LaFramboise (Source: Journal of Genetics and Genomics)
Source: Journal of Genetics and Genomics - August 3, 2020 Category: Genetics & Stem Cells Source Type: research

Genes, Vol. 11, Pages 878: The Influences of Bioinformatics Tools and Reference Databases in Analyzing the Human Oral Microbial Community
Xin Li Deepak Saxena There is currently no criterion to select appropriate bioinformatics tools and reference databases for analysis of 16S rRNA amplicon data in the human oral microbiome. Our study aims to determine the influence of multiple tools and reference databases on &amp;alpha;-diversity measurements and &amp;beta;-diversity comparisons analyzing the human oral microbiome. We compared the results of taxonomical classification by Greengenes, the Human Oral Microbiome Database (HOMD), National Center for Biotechnology Information (NCBI) 16S, SILVA, and the Ribosomal Database Project (RDP) using Quanti...
Source: Genes - August 3, 2020 Category: Genetics & Stem Cells Authors: Maria A. Sierra Qianhao Li Smruti Pushalkar Bidisha Paul Tito A Sandoval Angela R. Kamer Patricia Corby Yuqi Guo Ryan Richard Ruff Alexander V. Alekseyenko Xin Li Deepak Saxena Tags: Article Source Type: research

Genes, Vol. 11, Pages 880: Splicing Factor Transcript Abundance in Saliva as a Diagnostic Tool for Breast Cancer
Peretz Maayan Salton Breast cancer is the second leading cause of death in women above 60 years in the US. Screening mammography is recommended for women above 50 years; however, 22% of breast cancer cases are diagnosed in women below this age. We set out to develop a test based on the detection of cell-free RNA from saliva. To this end, we sequenced RNA from a pool of ten women. The 1254 transcripts identified were enriched for genes with an annotation of alternative pre-mRNA splicing. Pre-mRNA splicing is a tightly regulated process and its misregulation in cancer cells promotes the formation of cancer-driving iso...
Source: Genes - August 3, 2020 Category: Genetics & Stem Cells Authors: Mercedes Bentata Guy Morgenstern Yuval Nevo Gillian Kay Avital Granit Mizrahi Mark Temper Ofra Maimon Liza Monas Reham Basheer Asa Ben-Hur Tamar Peretz Maayan Salton Tags: Article Source Type: research

Genes, Vol. 11, Pages 882: Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment
In this study, we aimed to evaluate the mutation features of the phenotypes of high myopia and retinal detachment. Forty-two probands diagnosed with Stickler syndrome were included. Comprehensive ocular examinations were performed. A targeted gene panel test or whole exome sequencing was used to detect the mutations, and Sanger sequencing was conducted for verification and segregation analysis. Among the 42 probands, 32 (76%) presented with high myopia and 29 (69%), with retinal detachment. Pathogenic mutations were detected in 35 (83%) probands: 27 (64%) probands had COL2A1 mutations, and eight (19%) probands had COL11A1 ...
Source: Genes - August 3, 2020 Category: Genetics & Stem Cells Authors: Li Huang Chonglin Chen Zhirong Wang Limei Sun Songshan Li Ting Zhang Xiaoling Luo Xiaoyan Ding Tags: Article Source Type: research

Histone variants in skeletal myogenesis
. (Source: Epigenetics)
Source: Epigenetics - August 3, 2020 Category: Genetics & Stem Cells Authors: Nandini Karthik Reshma Taneja Source Type: research

Dynamic chromatin accessibility landscape changes following interleukin-1 stimulation
. (Source: Epigenetics)
Source: Epigenetics - August 3, 2020 Category: Genetics & Stem Cells Authors: Matt J Barter Kathleen Cheung Julia Falk Andreas C Panagiotopoulos Caitlin Cosimini Siobhan O ’Brien Karina Teja-Putri Graham Neill David J Deehan David A. Young Source Type: research

Correction: Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection
Genetics in Medicine, Published online: 03 August 2020; doi:10.1038/s41436-020-0931-1Correction: Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 3, 2020 Category: Genetics & Stem Cells Authors: Amber L. Beitelshees James M. Stevenson Nihal El Rouby Chrisly Dillon Philip E. Empey Elliot M. Fielstein Julie A. Johnson Nita A. Limdi Henry H. Ong Francesco Franchi Dominick J. Angiolillo Joshua F. Peterson Marc B. Rosenman Todd C. Skaar Sony Tuteja La Source Type: research

IJERPH, Vol. 17, Pages 5593: Online Newspaper Framing of Non-Communicable Diseases: Comparison of Mainland China, Taiwan, Hong Kong and Macao
heong As non-communicable diseases (NCDs) are now well recognized as the leading cause of mortality among adult populations worldwide, they are also increasingly the focus of media coverage. As such, the objective of this study is to describe the framing of NCDs in the coverage of newspapers, with the understanding that it says something about the society producing it. Automatic content analysis was employed to examine disease topics, risks, and cost consequences, thus providing lay people with a chance of learning the etiology of NCDs and information available for fighting diseases. The result of the computational met...
Source: International Journal of Environmental Research and Public Health - August 3, 2020 Category: Environmental Health Authors: Angela Chang Peter J. Schulz Angus Wenheng Cheong Tags: Article Source Type: research

Genes, Vol. 11, Pages 879: Chloroplast Genome Variation and Evolutionary Analysis of Olea europaea L.
nlong Zhu Olive (Olea europaea L.) is a very important woody tree and favored by consumers because of the fruit&amp;rsquo;s high-quality olive oil. Chloroplast genome analysis will provide insights into the chloroplast variation and genetic evolution of olives. The complete chloroplast genomes of three accessions (O. europaea subsp. cuspidata isolate Yunnan, O. europaea subsp. europaea var. sylvestris, and O. europaea subsp. europaea var. frantoio) were obtained by next-generation sequencing technology. A total of 133 coding regions were identified in the three chloroplast genomes without rearrangement. O. europaea...
Source: Genes - August 3, 2020 Category: Genetics & Stem Cells Authors: Erli Niu Chengying Jiang Wei Wang Yu Zhang Shenlong Zhu Tags: Article Source Type: research

Genes, Vol. 11, Pages 881: Transcriptomic Analysis Revealed the Common and Divergent Responses of Maize Seedling Leaves to Cold and Heat Stresses
Jinlin Zhang Temperature stresses (TS), including cold and heat stress, adversely affect the growth, development, and yield of maize (Zea mays L.). To clarify the molecular mechanisms of the tolerance of maize seedling leaves to TS, we applied transcriptomic sequencing of an inbred maize line, B73, with seedlings exposed to various temperature conditions, including normal temperature (NT, 25 &amp;deg;C), cold (4, 10, and 16 &amp;deg;C), and heat (37, 42, and 48 &amp;deg;C) stresses. Differentially expressed genes (DEGs) were detected in different comparison between the NT sample and each temperature-stress...
Source: Genes - August 3, 2020 Category: Genetics & Stem Cells Authors: Yongsheng Li Xingrong Wang Yue Li Yanjun Zhang Zuowang Gou Xusheng Qi Jinlin Zhang Tags: Article Source Type: research

The Genome Sequence of Alpine Megacarpaea delavayi Identifies Species-Specific Whole-Genome Duplication
Megacarpaea delavayi (Brassicaceae), a plant found the high mountains of southwest China at high altitudes (3000–4800 m), is used as a vegetable or medicine. Here, we report a draft genome for this species. The assembly genome of M. delavayi is 883 Mb, and 61.59% of the genome is composed of repeat sequences. Annotation of the genome identified a total of 41,114 protein-coding genes. We found that M. delavayi experienced an independent whole-genome duplication (WGD), paralleling those independent WGDs in Iberis, Biscutella, and Anastatica in the early Miocene. Phylogenetic analyses based on the single-copy genes conf...
Source: Frontiers in Genetics - August 3, 2020 Category: Genetics & Stem Cells Source Type: research

Exploring Beyond the DNA Sequence: A Review of Epigenomic Studies of DNA and Histone Modifications in Dementia
AbstractPurpose of ReviewAlthough genome-scale studies have identified many genetic variants associated with dementia, these do not account for all of disease incidence and so recently attention has turned to studying mechanisms of genome regulation. Epigenetic processes such as modifications to the DNA and histones alter transcriptional activity and have been hypothesized to be involved in the etiology of dementia. Here, we review the growing body of literature on dementia epigenomics, with a focus on novel discoveries, current limitations, and future directions for the field.Recent FindingsIt is through advances in genom...
Source: Current Genetic Medicine Reports - August 3, 2020 Category: Genetics & Stem Cells Source Type: research

Effect of DAOA genetic variation on white matter alteration in corpus callosum in patients with first-episode schizophrenia
AbstractD-amino acid oxidase activator (DAOA) gene, which plays a crucial role in the process of glutamatergic transmission and mitochondrial function, is frequently linked with the liability for schizophrenia. We aimed to investigate whether the variation of DAOA rs2391191 is associated with alterations in white matter integrity of first-episode schizophrenia (FES) patients; and whether it influences the association between white matter integrity, cognitive function and clinical symptoms of schizophrenia. Forty-six patients with FES and forty-nine healthy controls underwent DTI and were genotyped for DAOA rs2391191. Psych...
Source: Brain Imaging and Behavior - August 3, 2020 Category: Neurology Source Type: research

Sharing of Genetic Association Signals by Age-Related Macular Degeneration and Alzheimer ’s Disease at Multiple Levels
This study was conducted to investigate the genetic factors shared by both diseases. We analyzed genome-wide association studies’ summary statistics from both diseases using a new platform k nown as functional mapping and annotation (FUMA) and a co-localization analysis. We obtained disease-related gene expression profile data from the Gene Expression Omnibus and analyzed these data using weighted gene co-expression network analysis. FUMA analysis and Bayesian co-localization analysis s howed that ten genes on chromosome 7, one pathway (complement and coagulation cascade), and forty-two biological processes were comm...
Source: Molecular Neurobiology - August 3, 2020 Category: Neurology Source Type: research

The development of extraintestinal manifestation and related risk factors in Crohn ’s patients
ConclusionAlthough the immunological and clinical associations between EIMs and CD cannot be fully elucidated, identifying specific relationships of immune-mediated diseases will help to better understand CD pathogenesis. (Source: Irish Journal of Medical Science)
Source: Irish Journal of Medical Science - August 3, 2020 Category: General Medicine Source Type: research

Cancers, Vol. 12, Pages 2144: Activation of Epidermal Growth Factor Receptor Sensitizes Glioblastoma Cells to Hypoxia-Induced Cell Death
Conclusions: The finding that EGFR activation renders GB cells susceptible to starvation could help to identify a subgroup of patients more likely to benefit from starvation-inducing therapies. (Source: Cancers)
Source: Cancers - August 3, 2020 Category: Cancer & Oncology Authors: Anna-Luisa Luger Nadja I. Lorenz Hans Urban Iris Div é Anna L. Engel Florian Strassheimer Katja Dettmer Pia S. Zeiner Shabnam Shaid Nina Struve Malte Kriegs Ute Hofmann Peter J. Oefner Patrick N. Harter Joachim P. Steinbach Michael W. Ronellenfitsch Tags: Article Source Type: research

Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals
AbstractGermline variants in theAPC andMUTYH genes contribute to colorectal cancer (CRC) and adenoma risk, though may occur with varying frequencies in individuals of different ancestries. The aim of this study was to evaluate the prevalence ofAPC, monoallelicMUTYH and biallelicMUTYH germline variants in Ashkenazi Jewish (AJ) and Other Ancestry (OA) individuals with colorectal adenomas. We studied 7225 individuals with colorectal adenomas who had germlineAPC andMUTYH testing at a commercial laboratory. Cross-sectional medical history data were extracted from provider-completed test requisition forms. We performed bivariate...
Source: Familial Cancer - August 3, 2020 Category: Cancer & Oncology Source Type: research

Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma–pheochromocytoma syndrome
Genetics in Medicine, Published online: 03 August 2020; doi:10.1038/s41436-020-0921-3Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma–pheochromocytoma syndrome (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 3, 2020 Category: Genetics & Stem Cells Authors: Samantha E. Greenberg Michelle F. Jacobs Heather Wachtel Amanda Anson Luke Buchmann Debbie L. Cohen Maria Bonanni Bonita Bennett Anne Naumer Amanda M. Schaefer Wendy Kohlmann Katherine L. Nathanson Tobias Else Lauren Fishbein Source Type: research

Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
Genetics in Medicine, Published online: 03 August 2020; doi:10.1038/s41436-020-0919-xClinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 3, 2020 Category: Genetics & Stem Cells Authors: Essa Alharby Eissa A. Faqeih Mohammed Saleh Seham Alameer Makki Almuntashri Annalisa Pastore Manar A. Samman Abdullah M. Alnawfal Mais Hashem Dimah Zaytuni Ghadeer Alharbi Mohammed Almannai Ali Alasmari Adel A. Mahmoud Ali H. Alwadei Lamya Jad Ali AlOtaib Source Type: research

Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 03 August 2020; doi:10.1038/s41436-020-0909-zTreatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 3, 2020 Category: Genetics & Stem Cells Authors: Kim L. McBride Susan A. Berry Nancy Braverman Source Type: research

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range
Genetics in Medicine, Published online: 03 August 2020; doi:10.1038/s41436-020-0917-zFrequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 3, 2020 Category: Genetics & Stem Cells Authors: Hailey Findlay Black Galen E. B. Wright Jennifer A. Collins Nicholas Caron Chris Kay Qingwen Xia Larissa Arning Emilia K. Bijlsma Ferdinando Squitieri Huu Phuc Nguyen Michael R. Hayden Source Type: research