Result 1 - 10 of total 33
Journal of bone marrow research
2013 Volume 1, Issue 106
| Language | English |
|---|---|
| Publishing date | 2013-08-12 |
| Publishing country | United States |
| Document type | Journal Article |
| DOI | 10.4172/jbmr.1000106 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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2021 Volume 285, Page(s) 119953
Abstract: In eukaryotic cells, the balance between the synthesis and the degradation decides the steady-state levels of messenger RNAs (mRNA). The removal of adenosine residues from the poly(A) tail, called deadenylation, is the first and the most crucial step in ... ...
| Abstract | In eukaryotic cells, the balance between the synthesis and the degradation decides the steady-state levels of messenger RNAs (mRNA). The removal of adenosine residues from the poly(A) tail, called deadenylation, is the first and the most crucial step in the process of mRNA degradation. Poly (A)-specific ribonuclease (PARN) is one such enzyme that catalyses the process of deadenylation. Although PARN has been primarily known as the regulator of the mRNA stability, recent evidence clearly suggests several other functions of PARN, including a role in embryogenesis, oocyte maturation, cell-cycle progression, telomere biology, non-coding RNA maturation and ribosome biogenesis. Also, deregulated PARN activity is shown to be a hallmark of specific disease conditions. Pathogenic variants in the PARN gene have been observed in various cancers and inherited bone marrow failure syndromes. The focus in this review is to highlight the emerging functions of PARN, particularly in the context of human diseases. |
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| MeSH term(s) | Adenosine/metabolism ; Disease/genetics ; Evolution, Molecular ; Exoribonucleases/genetics ; Exoribonucleases/physiology ; Humans ; Protein Biosynthesis ; RNA Stability ; RNA, Messenger/metabolism ; RNA, Untranslated/metabolism ; Ribosomes/metabolism ; Telomere Homeostasis |
| Chemical Substances | RNA, Messenger ; RNA, Untranslated ; Exoribonucleases (EC 3.1.-) ; poly(A)-specific ribonuclease (EC 3.1.13.4) ; Adenosine (K72T3FS567) |
| Language | English |
| Publishing date | 2021-09-11 |
| Publishing country | Netherlands |
| Document type | Journal Article ; Review |
| ZDB-ID | 3378-9 |
| ISSN | 1879-0631 ; 0024-3205 |
| ISSN (online) | 1879-0631 |
| ISSN | 0024-3205 |
| DOI | 10.1016/j.lfs.2021.119953 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Uc I Zs.368: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
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2010 Volume 39, Issue 2, Page(s) 133–141
Abstract: Gene expression in the eukaryotic cell is regulated at a number of levels, including transcription of genomic DNA into messenger RNA (mRNA), nucleocytoplasmic export of mRNA, and translation of the exported mRNA into proteins in the cytoplasm by ... ...
| Abstract | Gene expression in the eukaryotic cell is regulated at a number of levels, including transcription of genomic DNA into messenger RNA (mRNA), nucleocytoplasmic export of mRNA, and translation of the exported mRNA into proteins in the cytoplasm by ribosomes. The role played by epigenetics and transcription factors associated with the control of gene expression in the developing neutrophil has been well documented and appreciated over the years. A wealth of information on the role played by transcription factors in myeloid biology has contributed to our understanding of both normal and abnormal neutrophil development. However, regulation of mRNA translation in myeloid cell maturation is much less well-studied. A better understanding of the translational control of myeloid gene expression may provide important insights into both normal and abnormal myeloid maturation. This review summarizes our current understanding of the regulation of myeloid gene expression at the mRNA translational level. |
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| MeSH term(s) | Animals ; CCAAT-Enhancer-Binding Protein-alpha/genetics ; CCAAT-Enhancer-Binding Protein-alpha/metabolism ; Cell Differentiation ; Gene Expression Regulation ; Humans ; Myeloid Cells/cytology ; Myeloid Cells/metabolism ; Myeloid Progenitor Cells/cytology ; Myeloid Progenitor Cells/metabolism ; Protein Biosynthesis |
| Chemical Substances | CCAAT-Enhancer-Binding Protein-alpha |
| Language | English |
| Publishing date | 2010-11-18 |
| Publishing country | Netherlands |
| Document type | Journal Article ; Research Support, N.I.H., Extramural ; Review |
| ZDB-ID | 185107-x |
| ISSN | 1873-2399 ; 0531-5573 ; 0301-472X |
| ISSN (online) | 1873-2399 |
| ISSN | 0531-5573 ; 0301-472X |
| DOI | 10.1016/j.exphem.2010.10.011 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 922: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG) |
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Life sciences. 2021 Nov. 15, v. 285
2021
Abstract: In eukaryotic cells, the balance between the synthesis and the degradation decides the steady-state levels of messenger RNAs (mRNA). The removal of adenosine residues from the poly(A) tail, called deadenylation, is the first and the most crucial step in ... ...
| Abstract | In eukaryotic cells, the balance between the synthesis and the degradation decides the steady-state levels of messenger RNAs (mRNA). The removal of adenosine residues from the poly(A) tail, called deadenylation, is the first and the most crucial step in the process of mRNA degradation. Poly (A)-specific ribonuclease (PARN) is one such enzyme that catalyses the process of deadenylation. Although PARN has been primarily known as the regulator of the mRNA stability, recent evidence clearly suggests several other functions of PARN, including a role in embryogenesis, oocyte maturation, cell-cycle progression, telomere biology, non-coding RNA maturation and ribosome biogenesis. Also, deregulated PARN activity is shown to be a hallmark of specific disease conditions. Pathogenic variants in the PARN gene have been observed in various cancers and inherited bone marrow failure syndromes. The focus in this review is to highlight the emerging functions of PARN, particularly in the context of human diseases. |
|---|---|
| Keywords | adenosine ; biogenesis ; bone marrow ; cell cycle ; embryogenesis ; genes ; humans ; non-coding RNA ; oocytes ; ribonucleases ; ribosomes ; telomeres |
| Language | English |
| Dates of publication | 2021-1115 |
| Publishing place | Elsevier Inc. |
| Document type | Article |
| ZDB-ID | 3378-9 |
| ISSN | 1879-0631 ; 0024-3205 |
| ISSN (online) | 1879-0631 |
| ISSN | 0024-3205 |
| DOI | 10.1016/j.lfs.2021.119953 |
| Database | NAL-Catalogue (AGRICOLA) |
| Z 73/732: Show issues |
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Blood cells, molecules & diseases
2008 Volume 41, Issue 1, Page(s) 77–81
Abstract: CCAAT enhancer binding protein alpha (C/EBP alpha) is the founding member of a family of basic region/leucine zipper (bZIP) transcription factors and is a master regulator of granulopoiesis. It is expressed at high levels throughout myeloid ... ...
| Abstract | CCAAT enhancer binding protein alpha (C/EBP alpha) is the founding member of a family of basic region/leucine zipper (bZIP) transcription factors and is a master regulator of granulopoiesis. It is expressed at high levels throughout myeloid differentiation and binds to the promoters of multiple myeloid-specific genes at different stages of myeloid maturation. Profound hematopoietic abnormalities occur in mice nullizygous for C/EBP alpha including a selective early block in the differentiation of granulocytes. Mutations in C/EBP alpha are present in a subset of patients with AML presenting with a normal karyotype. These mutations can result in the expression of a 30 kDa dominant negative C/EBP alpha isoform, which contributes to loss of C/EBP alpha function. The molecular basis for this observation remains unknown. In addition to phosphorylation, C/EBP alpha is modified, post-translationally by a small ubiquitin-related modifier (SUMO) at a lysine residue (K159), which lies within the growth inhibitory region of the C/EBP alpha protein. Sumoylation at K159 in the C/EBP alpha protein prevents association of the SWI/SNF chromatin remodeling complex with C/EBP alpha, thereby hampering transactivation. In this review, the functional implications of post-translational modification, particularly sumoylation, of C/EBP alpha in normal granulopoiesis and leukemia are considered. |
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| MeSH term(s) | Animals ; CCAAT-Enhancer-Binding Protein-alpha/genetics ; CCAAT-Enhancer-Binding Protein-alpha/metabolism ; Humans ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/metabolism ; Mutation ; Myelopoiesis ; Phosphorylation ; Protein Processing, Post-Translational ; Signal Transduction ; Small Ubiquitin-Related Modifier Proteins/metabolism ; Transcriptional Activation |
| Chemical Substances | CCAAT-Enhancer-Binding Protein-alpha ; Small Ubiquitin-Related Modifier Proteins |
| Language | English |
| Publishing date | 2008-04-10 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, N.I.H., Extramural ; Review |
| ZDB-ID | 1237083-6 |
| ISSN | 1096-0961 ; 1079-9796 |
| ISSN (online) | 1096-0961 |
| ISSN | 1079-9796 |
| DOI | 10.1016/j.bcmd.2008.02.011 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 1138: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG) |
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2009 Volume 15, Issue 2, Page(s) 139–141
| MeSH term(s) | Granulocyte Colony-Stimulating Factor/physiology ; Humans ; Lymphocyte Count ; Neutropenia/drug therapy ; Neutrophils/cytology ; Niacinamide/pharmacology ; Niacinamide/therapeutic use |
|---|---|
| Chemical Substances | Granulocyte Colony-Stimulating Factor (143011-72-7) ; Niacinamide (25X51I8RD4) |
| Language | English |
| Publishing date | 2009-02-05 |
| Publishing country | United States |
| Document type | Comment ; News |
| ZDB-ID | 1220066-9 |
| ISSN | 1546-170X ; 1078-8956 |
| ISSN (online) | 1546-170X |
| ISSN | 1078-8956 |
| DOI | 10.1038/nm0209-139 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 4212: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
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| Zs.MG 39: Show issues |
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PloS one
2020 Volume 15, Issue 6, Page(s) e0232654
Abstract: Recently DNA sequencing analysis has played a vital role in the unambiguous diagnosis of clinically suspected patients with Duchenne Muscular Dystrophy (DMD). DMD is a monogenic, X-linked, recessive, degenerative pediatric neuromuscular disorder ... ...
| Abstract | Recently DNA sequencing analysis has played a vital role in the unambiguous diagnosis of clinically suspected patients with Duchenne Muscular Dystrophy (DMD). DMD is a monogenic, X-linked, recessive, degenerative pediatric neuromuscular disorder affecting males, invariably leading to fatal cardiopulmonary failure. Early and precise diagnosis of the disease is an essential part of an effective disease management strategy as care guidelines and prevention through counseling need to be initiated at the earliest particularly since therapies are now available for a subset of patients. In this manuscript we report the DMD gene mutational profiles of 961 clinically suspected male DMD patients, 99% of whom were unrelated. We utilized a molecular diagnostic approach which is cost-effective for most patients and follows a systematic process that sequentially involves identification of hotspot deletions using mPCR, large deletions and duplications using MLPA and small insertions/ deletions and point mutations using an NGS muscular dystrophy gene panel. Pathogenic DMD gene mutations were identified in 84% of patients. Our data compared well with the frequencies and distribution of deletions and duplications reported in the DMD gene in other published studies. We also describe a number of rare in-frame mutations, which appeared to be enriched in the 5' proximal hotspot region of the DMD gene. Furthermore, we identified a family with a rare non-contiguous deletion mutation in the DMD gene where three males were affected and two females were deemed carriers. A subset of patients with mutations in the DMD gene who are likely to benefit therapeutically from new FDA and EMA approved drugs were found in our cohort. Given that the burden of care for DMD patients invariably falls on the mothers, particularly in rural India, effective genetic counseling followed by carrier screening is crucial for prevention of this disorder. We analyzed the carrier status of consented female relatives of 463 probands to gauge the percentage of patients with familial disease. Our analysis revealed 43.7% of mothers with DMD gene mutations. Our comprehensive efforts, involving complete genetic testing coupled with compassionate genetic counseling provided to DMD patients and their families, are intended to improve the quality of life of DMD patients and to empower carrier females to make informed reproductive choices to impede the propagation of this deadly disease. |
|---|---|
| MeSH term(s) | Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Family ; Female ; Genetic Counseling ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Muscular Dystrophy, Duchenne/diagnosis ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/prevention & control ; Muscular Dystrophy, Duchenne/therapy ; Mutation ; Phenotype ; Young Adult |
| Language | English |
| Publishing date | 2020-06-19 |
| Publishing country | United States |
| Document type | Journal Article |
| ISSN | 1932-6203 |
| ISSN (online) | 1932-6203 |
| DOI | 10.1371/journal.pone.0232654 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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2020 Volume 10, Page(s) 1457
Abstract: Esophageal squamous cell carcinoma (ESCC) is the most common histological subtype of esophageal cancer in India. Cigarette smoking and chewing tobacco are known risk factors associated with ESCC. However, genomic alterations associated with ESCC in India ...
| Abstract | Esophageal squamous cell carcinoma (ESCC) is the most common histological subtype of esophageal cancer in India. Cigarette smoking and chewing tobacco are known risk factors associated with ESCC. However, genomic alterations associated with ESCC in India are not well-characterized. In this study, we carried out exome sequencing to characterize the mutational landscape of ESCC tumors from subjects with a varied history of tobacco usage. Whole exome sequence analysis of ESCC from an Indian cohort revealed several genes that were mutated or had copy number changes. ESCC from tobacco chewers had a higher frequency of C:G > A:T transversions and 2-fold enrichment for mutation signature 4 compared to smokers and non-users of tobacco. Genes, such as |
|---|---|
| Language | English |
| Publishing date | 2020-08-20 |
| Publishing country | Switzerland |
| Document type | Journal Article |
| ZDB-ID | 2649216-7 |
| ISSN | 2234-943X |
| ISSN | 2234-943X |
| DOI | 10.3389/fonc.2020.01457 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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PLoS ONE, Vol 15, Iss 6, p e
Focus on diagnosis, prevention and therapeutic possibilities.
2020 Volume 0232654
Abstract: Recently DNA sequencing analysis has played a vital role in the unambiguous diagnosis of clinically suspected patients with Duchenne Muscular Dystrophy (DMD). DMD is a monogenic, X-linked, recessive, degenerative pediatric neuromuscular disorder ... ...
| Abstract | Recently DNA sequencing analysis has played a vital role in the unambiguous diagnosis of clinically suspected patients with Duchenne Muscular Dystrophy (DMD). DMD is a monogenic, X-linked, recessive, degenerative pediatric neuromuscular disorder affecting males, invariably leading to fatal cardiopulmonary failure. Early and precise diagnosis of the disease is an essential part of an effective disease management strategy as care guidelines and prevention through counseling need to be initiated at the earliest particularly since therapies are now available for a subset of patients. In this manuscript we report the DMD gene mutational profiles of 961 clinically suspected male DMD patients, 99% of whom were unrelated. We utilized a molecular diagnostic approach which is cost-effective for most patients and follows a systematic process that sequentially involves identification of hotspot deletions using mPCR, large deletions and duplications using MLPA and small insertions/ deletions and point mutations using an NGS muscular dystrophy gene panel. Pathogenic DMD gene mutations were identified in 84% of patients. Our data compared well with the frequencies and distribution of deletions and duplications reported in the DMD gene in other published studies. We also describe a number of rare in-frame mutations, which appeared to be enriched in the 5' proximal hotspot region of the DMD gene. Furthermore, we identified a family with a rare non-contiguous deletion mutation in the DMD gene where three males were affected and two females were deemed carriers. A subset of patients with mutations in the DMD gene who are likely to benefit therapeutically from new FDA and EMA approved drugs were found in our cohort. Given that the burden of care for DMD patients invariably falls on the mothers, particularly in rural India, effective genetic counseling followed by carrier screening is crucial for prevention of this disorder. We analyzed the carrier status of consented female relatives of 463 probands to gauge the percentage of ... |
|---|---|
| Keywords | Medicine ; R ; Science ; Q |
| Subject code | 570 ; 610 |
| Language | English |
| Publishing date | 2020-01-01T00:00:00Z |
| Publisher | Public Library of Science (PLoS) |
| Document type | Article ; Online |
| Database | BASE - Bielefeld Academic Search Engine (life sciences selection) |
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2020 Volume 10, Page(s) 1666
Abstract: Though smoking remains one of the established risk factors of esophageal squamous cell carcinoma, there is limited data on molecular alterations associated with cigarette smoke exposure in esophageal cells. To investigate molecular alterations associated ...
| Abstract | Though smoking remains one of the established risk factors of esophageal squamous cell carcinoma, there is limited data on molecular alterations associated with cigarette smoke exposure in esophageal cells. To investigate molecular alterations associated with chronic exposure to cigarette smoke, non-neoplastic human esophageal epithelial cells were treated with cigarette smoke condensate (CSC) for up to 8 months. Chronic treatment with CSC increased cell proliferation and invasive ability of non-neoplastic esophageal cells. Whole exome sequence analysis of CSC treated cells revealed several mutations and copy number variations. This included loss of high mobility group nucleosomal binding domain 2 (HMGN2) and a missense variant in mediator complex subunit 1 (MED1). Both these genes play an important role in DNA repair. Global proteomic and phosphoproteomic profiling of CSC treated cells lead to the identification of 38 differentially expressed and 171 differentially phosphorylated proteins. Bioinformatics analysis of differentially expressed proteins and phosphoproteins revealed that most of these proteins are associated with DNA damage response pathway. Proteomics data revealed decreased expression of HMGN2 and hypophosphorylation of MED1. Exogenous expression of HMGN2 and MED1 lead to decreased proliferative and invasive ability of smoke exposed cells. Immunohistochemical labeling of HMGN2 in primary ESCC tumor tissue sections (from smokers) showed no detectable expression while strong to moderate staining of HMGN2 was observed in normal esophageal tissues. Our data suggests that cigarette smoke perturbs expression of proteins associated with DNA damage response pathways which might play a vital role in development of ESCC. |
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| Language | English |
| Publishing date | 2020-11-05 |
| Publishing country | Switzerland |
| Document type | Journal Article |
| ZDB-ID | 2649216-7 |
| ISSN | 2234-943X |
| ISSN | 2234-943X |
| DOI | 10.3389/fonc.2020.01666 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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