Genomic Testing Identifies Monogenic Causes in Patients with Very Early-Onset Inflammatory Bowel Disease: A Multi-center Survey in an Iranian Cohort
Clin Exp Immunol. 2024 Apr 23:uxae037. doi: 10.1093/cei/uxae037. Online ahead of print.ABSTRACTPatients with very early-onset inflammatory bowel disease (VEO-IBD) may present because of underlying monogenic inborn errors of immunity (IEI). Strong differences have been observed in the causes of monogenic IBD among ethnic populations. This multi-center study was carried out on 16 Iranian patients with VEO-IBD. We reviewed clinical and basic immunologic evaluation including flow cytometry and immunoglobulin levels. All patients underwent clinical whole exome sequencing (WES). Sixteen patients (8 females and 8 males) with a me...
Source: Clinical and Developmental Immunology - April 23, 2024 Category: Allergy & Immunology Authors: Golnaz Eslamian Mahnaz Jamee Tooba Momen Pejman Rohani Sarehossadat Ebrahimi Mehrnaz Mesdaghi Soodeh Ghadimi Mahboubeh Mansouri Seyed Alireza Mahdaviani Mahnaz Sadeghi-Shabestari Morteza Fallahpour Bibi Shahin Shamsian Narges Eslami Samin Sharafian Naghi Source Type: research
Flow cytometric minimal residual disease measurement accounting for cytogenetics in children with non ‐high‐risk acute lymphoblastic leukemia treated according to the ALL‐MB 2008 protocol
ConclusionOur data show that combining clinical risk factors with MFC-MRD measurement is the most useful tool for risk group stratification of children with BCP-ALL in the reduced-intensity protocols. However, this algorithm can be supplemented with cytogenetic data for part of the ImR group. (Source: Cancer Medicine)
Source: Cancer Medicine - April 23, 2024 Category: Cancer & Oncology Authors: Alexander Popov,
Guenter Henze,
Grigory Tsaur,
Oleg Budanov,
Julia Roumiantseva,
Mikhail Belevtsev,
Tatiana Verzhbitskaya,
Liudmila Movchan,
Svetlana Lagoyko,
Liudmila Zharikova,
Yulia Olshanskaya,
Tatiana Riger,
Alena Valochnik,
Natalia Miak Tags: RESEARCH ARTICLE Source Type: research
GSE264393 Multiscale topology classifies and quantifies cell types in subcellular spatial transcriptomics [human snRNA-seq]
Contributors : Katherine Benjamin ; Aneesha Bhandari ; Jessica D Kepple ; Rui Qi ; Zhouchun Shang ; Yanan Xing ; Yanru An ; Nannan Zhang ; Yong Hou ; Tanya L Crockford ; Oliver MacCallion ; Fadi Issa ; Joanna Hester ; Ulrike Tillmann ; Heather A Harrington ; Katherine R BullSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensSpatial transcriptomics has the potential to transform our understanding of RNA expression in tissues. Classical array-based technologies produce multiple-cell-scale measurements requiring deconvolution to recover single cell information. However, rapid a...
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
GSE264347 Emergence of metabolic coupling to the heterotroph Alteromonas promotes dark survival in Prochlorococcus
Contributors : Allison Coe ; Rogier Braakman ; Steven J Biller ; Aldo Arellano ; Christina Bliem ; Nhi N Vo ; Konnor von Emster ; Elaina Thomas ; Michelle DeMers ; Claudia Steglich ; Jef Huisman ; Sallie W ChisholmSeries Type : Expression profiling by high throughput sequencingOrganism : Alteromonas macleodii ; Prochlorococcus marinus str. NATL2AProchlorococcus is found throughout the euphotic zone in the oligotrophic open ocean. Deep mixing and sinking in aggregates or while attached to particles can, however, transport cells below this sunlit zone, depriving them of light for extended periods of time and influen...
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Alteromonas macleodii Prochlorococcus marinus str. NATL2A Source Type: research
GSE264288 The effect of CRISPLD2 on TGF β-induced fibroblast fibrosis
In this study, human cysteine-rich secreted protein LCCL domain protein 2 (CRISPLD2) was found increased reactivity in TGFβ induced fibroblasts, and we further confirmed that CRISPLD2 can participate in TGFβ induced fibroblast fibrosis from multiple perspectives and levels, and investigated the mechanism of CRISPLD2 in fibrosis, providing evidence for CRISPLD2 to become a clinical potentia l therapeutic target and a new biomarker. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
GSE264321 Multiscale topology classifies and quantifies cell types in subcellular spatial transcriptomics [stereo-seq]
Contributors : Katherine Benjamin ; Aneesha Bhandari ; Jessica D Kepple ; Rui Qi ; Zhouchun Shang ; Yanan Xing ; Yanru An ; Nannan Zhang ; Yong Hou ; Tanya L Crockford ; Oliver MacCallion ; Fadi Issa ; Joanna Hester ; Ulrike Tillmann ; Heather A Harrington ; Katherine R BullSeries Type : OtherOrganism : Mus musculusSpatial transcriptomics has the potential to transform our understanding of RNA expression in tissues. Classical array-based technologies produce multiple-cell-scale measurements requiring deconvolution to recover single cell information. However, rapid advances in subcellular measurement of RNA exp...
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Other Mus musculus Source Type: research
GSE264327 Nano-encapsulated senolytics cocktail ameliorates germ cell senescence in female mice
Contributors : Yiting Guan ; Hongyong ZhangSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusLow-quality oocytes directly affect fertilization and embryo developmental ability, and further contributes to infertility in women. Dasatinib and quercetin, as a senolytics, has been explored extensively in various age-related diseases. Here, we report that nano-encapsulated senolytics cocktail (D+Q) efficaciously ameliorates the the quantity and quality of follicles and oocytes in vitro and in vivo. D+Q cocktail supplementation reduces the level of ROS in aged oocytes, decreases the frequenc...
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
GSE264332 Transcriptome analysis of RNA-sequencing data for 2-D08-treated SK-LMS-1 cells
Contributors : Hyunju Liu ; Hosouk JoungSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiens2 ʹ,3ʹ,4ʹ-trihydroxyflavone (2-D08) is a synthetic flavone that mechanistically has been identified as a specific inhibitor of protein SUMOylation. Recent studies have demonstrated that 2-D08 has various biological functions, including anticancer. We aimed to obtain additional insights into the eff ects of 2-D08 and conducted transcriptome analyses using RNA-sequencing (RNA-seq) in SK-LMS-1 leiomyosarcoma cells. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
GSE264334 Multiscale topology classifies and quantifies cell types in subcellular spatial transcriptomics [Xenium]
Contributors : Katherine Benjamin ; Aneesha Bhandari ; Jessica D Kepple ; Rui Qi ; Zhouchun Shang ; Yanan Xing ; Yanru An ; Nannan Zhang ; Yong Hou ; Tanya L Crockford ; Oliver MacCallion ; Fadi Issa ; Joanna Hester ; Ulrike Tillmann ; Heather A Harrington ; Katherine R BullSeries Type : OtherOrganism : Homo sapiensSpatial transcriptomics has the potential to transform our understanding of RNA expression in tissues. Classical array-based technologies produce multiple-cell-scale measurements requiring deconvolution to recover single cell information. However, rapid advances in subcellular measurement of RNA exp...
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Other Homo sapiens Source Type: research
GSE264277 Effect of umbilical cord mesenchymal stem cells on preadipocyte differentiation
This study aims to investigate the specific nature of this influence and elucidate the underlying mechanisms involved. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
GSE263294 Patient-Derived Organoids Recapitulate Pathological Intrinsic and Phenotypic Features of Fibrous Dysplasia
In this study, we developed an in vitro organotypic model capable of recapitulating key intrinsic and phenotypic properties of FD. Transcriptomic profiling of individual cells isolated from patient lesional tissues revealed extensive intralesional molecular and cellular heterogeneity, indicative of pathogenic fibrotic processes. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
GSE262996 Single cell RNA-seq profiling of mouse brain cells at postnatal day 10
Contributors : Qijing Lei ; Feng MeiSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculus10x single-cell RNA-sequencing to profile mouse brain cells at postnatal day 10 (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
GSE262954 Secukinumab for the treatment of adult-onset pityriasis rubra pilaris: a single-arm clinical trial with transcriptomic analysis
Conclusions: Secukinumab appears to be an effective treatment for PRP and warrants further investigation. PRP is a tra nscriptionally heterogeneous disease, reflecting its variable response to therapy. Agents targeting other IL-17 isoforms and innate immune mediators should be considered for future clinical trials. What is already known about this topic? The pathogenesis of pityriasis rubra pilaris is incompletely u nderstood. Successful treatment has been reported with a variety of immunomodulatory agents, but disease is often refractory to therapy. Interleukin (IL)-17 is thought to drive keratinocyte proliferation and va...
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
GSE262491 XPO1 blockade with KPT-330 promotes apoptosis in Cutaneous T- cell Lymphoma by activating the p53-p21 and p27 pathways
Contributors : Nitin Chakravarti ; Amy Boles ; Rachel Burzinski ; Paola Sindaco ; Colleen Isabelle ; Kathleen McConnell ; Anjali Mishra ; Pierluigi PorcuSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensTo assess the effects of XPO1 inhibition with small molecule inhibitor KPT-330 on Cutaneous T-cell Lymphoma after 48 hours of treatment (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
GSE262343 Principles of chromosome organization for meiotic recombination
Series Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Mus musculusIn meiotic cells, chromosomes are organized as chromatin loop arrays anchored to a protein axis. This organization is essential to regulate meiotic recombination, from DNA double-strand break (DSB) formation to their repair. In mammals, it is unknown how chromatin loops are organized along the genome and how proteins participating in DSB formation are tethered to the chromosome axes. Here, we identified three categories of axis-associated genomic sites: PRDM9 binding sites, where DSBs form, binding sites of the insulator pr...
Source: GEO: Gene Expression Omnibus - April 23, 2024 Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Mus musculus Source Type: research
