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Specialty: Genetics & Stem Cells

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Total 47651 results found since Jan 2013.

GSE222695 Transcriptomic profiling of CDCP1 knock-down in human cardiac fibroblasts (HCFs)
Contributors : Vishakantha Murthy ; Thanh L Nguyen ; Duan LiuSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensTo investigate the function of CDCP1 in regulation of HCF proliferation, we cultured primary HCFs and transfected with non-targeting siRNA and CDCP1 siRNAs. Total RNA samples were extracted for RNA-seq to identify transcriptome-wide gene expression changes in the HCFs after CDCP1 knock-down (KD).
Source: GEO: Gene Expression Omnibus - September 22, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

NMR chemical shift prediction and structural elucidation of linker-containing oligo- and polysaccharides using the computer program CASPER
Carbohydr Res. 2023 Sep 4;533:108937. doi: 10.1016/j.carres.2023.108937. Online ahead of print.ABSTRACTCarbohydrate structures containing alkyl groups as aglycones are useful for investigating enzyme activity and glycan-protein interactions. Moreover, linker-containing oligosaccharides with a spacer group are commonly used to print glycan microarrays or to prepare protein-conjugates as vaccine candidates. The structural accuracy of these synthesized glycans are essential for interpretation of results from biological experiments in which the compounds have been used and NMR spectroscopy can unravel and confirm their structu...
Source: Carbohydrate Research - September 21, 2023 Category: Genetics & Stem Cells Authors: Kevin M Dorst G öran Widmalm Source Type: research

Resveratrol Inhibits circ_0074371-related Pathway to Alleviate Sepsis-induced Acute Kidney Injury
In this study, lipopolysaccharide (LPS)-induced renal tubular epithelial cells (HK2) were used to mimic AKI cell models. Quantitative real-time PCR was used to detect relative expression of circ_0074371, microRNA (miR)-145-5p and inositol polyphosphate multikinase (IPMK). Cell proliferation and apoptosis were detected by cell counting kit 8 assay, EdU assay and flow cytometry. The levels of inflammation factors were measured by ELISA assay, and MDA level and SOD activity were examined to assess oxidative stress. Protein expression of IPMK was evaluated by western bolt analysis. The relationship between miR-145-5p and circ_...
Source: Biochemical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Dongju Zhu Xiang Wu Source Type: research

Circ_0005785 Silencing Constrains the Functional Properties of Colorectal Cancer Cells Depending on miR-7-5p/DNMT3A Axis
In conclusion, circ_0005785 aggravated the CRC progression by increasing the level of DNMT3A via adsorbing miR-7-5p.PMID:37730966 | DOI:10.1007/s10528-023-10522-6
Source: Biochemical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Zhu Li Gangling Tong Xiaodan Peng Shubin Wang Source Type: research

The Role of lncRNA-miR-26a-mRNA Network in Cancer Progression and Treatment
Biochem Genet. 2023 Sep 20. doi: 10.1007/s10528-023-10475-w. Online ahead of print.ABSTRACTThe role of non-coding RNAs in regulating biological processes associated with cancer progression, such as proliferation, migration, and apoptosis, has been extensively studied. Long non-coding RNAs (lncRNAs) play a role in regulating these processes through various mechanisms, including transcriptional and post-transcriptional modifications. In post-transcriptional regulation, lncRNAs can bind to specific miRNAs and affect their function, which can either promote or inhibit cancer development. The interaction between lncRNAs, miRNAs...
Source: Biochemical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Jun Zhu Liya Wang Source Type: research

Exosomal circKIAA1797 Regulates Cell Progression and Glycolysis by Targeting miR-4429/PBX3 Pathway in Gastric Cancer
Biochem Genet. 2023 Sep 20. doi: 10.1007/s10528-023-10529-z. Online ahead of print.ABSTRACTIn recent years, circular RNAs (circRNAs) are extensively studied in the progression of various types of cancer, while the mechanism of circKIAA1797 is rarely studied in gastric cancer (GC). Hence, this research aimed to investigate the expression of exosomal circKIAA1797 and its biological function in GC cells. Exosomes were extracted from the serum of GC patients and identified by transmission electron microscopy (TEM) and nanoparticle tracking analyzer (NTA). CD81, CD63, Bcl-2, Bax, and pre-leukemia transcription factor 3 (PBX3) p...
Source: Biochemical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Xiaomei Zheng Hongwei Xiao Xiaoxiao Liu Ting Huang Chengwei Deng Source Type: research

The Challenges and Opportunities for Mental Health Twin Research in Nigeria
Behav Genet. 2023 Sep 21. doi: 10.1007/s10519-023-10153-y. Online ahead of print.ABSTRACTThe recent interest in increasing diversity in genetic research can be useful in uncovering novel insights into the genetic architecture of mental health disorders - globally and in previously unexplored settings such as low- and middle-income settings like Nigeria. Genetic research into mental health is potentially promising in Nigeria and we reflect on the challenges and opportunities for twin research which may be particularly suited to Nigeria. The higher rates of twinning in Africa and Nigeria specifically, make the twin design an...
Source: Behavior Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Olakunle Ayokunmi Oginni Ayoyinka Ayorinde Kehinde Dorcas Ayodele Onyedikachi Joseph Opara Boladale Mapayi Kolawole Mosaku Source Type: research

A genome-wide association scan reveals novel loci for facial traits of Koreans
Genomics. 2023 Sep 19:110710. doi: 10.1016/j.ygeno.2023.110710. Online ahead of print.ABSTRACTDNA-based prediction of externally visible characteristics (EVC) with SNPs is one of the research areas of interest in the forensic field. Based on a previous study performing GWAS on facial traits in a Korean population, herein, we present results stemming from GWA analysis with KoreanChip and novel genetic loci satisfying genome-wide significant level. We discovered a total of 20 signals and 12 loci were found to have novel associations with facial traits, including six loci located in intergenic regions and six loci located at ...
Source: Genomics - September 21, 2023 Category: Genetics & Stem Cells Authors: Hye-Won Cho Hyo-Jeong Ban Hyun-Seok Jin Seongwon Cha Yong-Bin Eom Source Type: research

In vivo CRISPR/LbCas12a-mediated knock-in and knock-out in Atlantic salmon (Salmo salar L.)
Transgenic Res. 2023 Sep 21. doi: 10.1007/s11248-023-00368-4. Online ahead of print.ABSTRACTGenome editing using the CRISPR/Cas system offers the potential to enhance current breeding programs and introduce desirable genetic traits, including disease resistance, in salmon aquaculture. Several nucleases are available using this system, displaying differences regarding structure, cleavage, and PAM requirement. Cas9 is well established in Atlantic salmon, but Cas12a has yet to be tested in vivo in this species. In the present work, we microinjected salmon embryos with LbCas12a ribonucleoprotein complexes targeting the pigment...
Source: Transgenic Research - September 21, 2023 Category: Genetics & Stem Cells Authors: Mari Raudstein Erik Kj ærner-Semb Morten Barvik Silje Broll Anne Hege Straume Rolf Brudvik Edvardsen Source Type: research

Novel insight into the phenotype of microcephaly 19 in the patient with missense COPB2 mutation
This study describes a missense pathogenic homozygous variant (NM_004766.3:c.760 C > T, p.Arg254Cys) in the COPB2 gene, which was identified by Whole-Exome sequencing and confirmed by Sanger sequencing. The proband of the present study is an eight-and-a-half-year-old Iranian female who was born to consanguineous parents. She manifests global developmental delay, intellectual disability, microcephaly, seizures, spasticity, strabismus, and failure to thrive symptoms. Moreover, she is unable to stand, walk, or speak. Here we report the second homozygous mutation (NM_004766.3:c.760 C > T, p.Arg254Cys) in the COPB2 gene i...
Source: European Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Amirmasoud Shiri Hossein Jafari Khamirani Neda Kamal Jamal Manoochehri Mehdi Dianatpour Seyed Mohammad Bagher Tabei Seyed Alireza Dastgheib Source Type: research

A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardation
Eur J Med Genet. 2023 Sep 19:104845. doi: 10.1016/j.ejmg.2023.104845. Online ahead of print.ABSTRACTCAMK2B encodes the beta-subunit of calcium/calmodulin-dependent protein kinase II (CAMKII), which is expressed mainly in the brain. Variants of CAMK2A and CAMK2B cause neurodevelopmental disorders, and CAMK2B alterations have been described in at least 14 patients with intellectual disability and developmental delay. Here, we describe a novel CAMK2B variant in a patient with tetralogy of Fallot (TOF), developmental delay, and growth retardation. The patient was a 2-year-old female. She was delivered at 36 weeks 6 days gestat...
Source: European Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Yuji Horii Yukiko Kuroda Yoko Saito Yumi Enomoto Takuya Naruto Kenji Kurosawa Source Type: research

A novel < em > METTL5 < /em > variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review
In this study, due to the genetic heterogeneity of the disease, the whole-exome sequencing (WES) was performed on a 13-year-old boy suffering from microcephaly. In addition, Sanger sequencing, cosegregation analysis, and structural modelling were performed to identify and verify the causative variant in the proband and obligate carriers in the family. WES revealed a novel, homozygote 10-bp deletion in the donor splice site of 2nd exon of METTL5 gene (NM_014168:c.223_224?8del), which was found segregating with the phenotype in the pedigree. This variant meets the criteria of being pathogenic according to the American Colleg...
Source: Journal of Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Fatemeh Shakarami Zahra Nouri Hossein Khanahmad Mohamadreza Ghazavi Mohammad Amin Tabatabaiefar Source Type: research

Molecular characterization of < em > de novo < /em > ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies
J Genet. 2023;102:44.ABSTRACTThe ring chromosome 21[r(21)] syndrome is a rare disorder, and mainly occurs as a de novo event. However, a wide variation of the phenotype has been reported in r(21) cases depending on breakpoints, loss of genetic material, and mosaicism of cells with r(21) and monosomy 21, causing copy number alterations. A 29-month-old female was referred to the centre for seizures, developmental delay, microcephaly, hypotonia, deafness, and other congenital abnormalities. Physical examination revealed short stature and multiple facial dysmorphism. She was unable to sit, walk or stand by herself. Cytogenetic...
Source: Journal of Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Prafulla S Ambulkar Thomas Liehr Manish Jain Jwalant Waghmare Nitin Gangane Pratibha Narang Asoke K Pal Source Type: research

Songbird germline-restricted chromosome as a potential arena of genetic conflicts
Curr Opin Genet Dev. 2023 Sep 19;83:102113. doi: 10.1016/j.gde.2023.102113. Online ahead of print.ABSTRACTGenetic conflicts can arise between components of the genome with different inheritance strategies. The germline-restricted chromosome (GRC) of songbirds shows unusual mitotic and meiotic transmission compared with the rest of the genome. It is excluded from somatic cells and maintained only in the germline. It is usually present in one copy in the male germline and eliminated during spermatogenesis, while in the female germline, it usually occurs in two copies and behaves as a regular chromosome. Here, we review what ...
Source: Current Opinion in Genetics and Development - September 21, 2023 Category: Genetics & Stem Cells Authors: Niki Vontzou Yifan Pei Jakob C Mueller Radka Reifov á Francisco J Ruiz-Ruano Stephen A Schlebusch Alexander Suh Source Type: research

Multi-scale cellular imaging of DNA double strand break repair
We describe different (live-cell) imaging modalities that can reveal details of the DNA double-strand break repair process across multiple time and spatial scales. In addition, recent developments are discussed in super-resolution imaging and single-molecule tracking, and how these technologies can be applied to elucidate details on structural compositions or dynamics of DNA double-strand break repair.PMID:37734176 | DOI:10.1016/j.dnarep.2023.103570
Source: DNA Repair - September 21, 2023 Category: Genetics & Stem Cells Authors: Tim Heemskerk Gerarda van de Kamp Jeroen Essers Roland Kanaar Maarten W Paul Source Type: research