Transferrin receptor 2 (Tfr2) genetic deletion makes transfusion‐independent a murine model of transfusion‐dependent β‐thalassemia
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Hematology"
DOI: 10.1002/ajh.26673
Abstract: β‐thalassemia is a genetic disorder caused by mutations in the β‐globin gene, and characterized by anemia, ineffective erythropoiesis and iron overload. Patients affected by the most severe transfusion‐dependent form of the disease (TDT) require lifelong… read more here.
Keywords: transfusion dependent; deletion; iron; transferrin receptor ... See more keywords
Altered medial prefrontal cortex and dorsal raphé activity predict genotype and correlate with abnormal learning behavior in a mouse model of autism‐associated 2p16.3 deletion
Sign Up to like & getrecommendations! Published in 2022 at "Autism Research"
DOI: 10.1002/aur.2685
Abstract: 2p16.3 deletion, involving NEUREXIN1 (NRXN1) heterozygous deletion, substantially increases the risk of developing autism and other neurodevelopmental disorders. We have a poor understanding of how NRXN1 heterozygosity impacts on brain function and cognition to increase… read more here.
Keywords: 2p16 deletion; deletion; autism; nrxn1 mice ... See more keywords
APOBEC3A/B deletion polymorphism and endometrial cancer risk
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DOI: 10.1002/cam4.5448
Abstract: A common 30 kb deletion affecting the APOBEC3A and APOBEC3B genes has been linked to increased APOBEC activity and APOBEC‐related mutational signatures in human cancers. The role of this deletion as a cancer risk factor… read more here.
Keywords: deletion; cancer risk; deletion polymorphism; apobec3a deletion ... See more keywords
Generation and characterization of a Ddx4‐iCre transgenic line for deletion in the germline beginning at genital ridge colonization
Sign Up to like & getrecommendations! Published in 2023 at "genesis"
DOI: 10.1002/dvg.23511
Abstract: Germline‐specific Cre lines are useful for analyses of primordial germ cell, spermatogonial and oogonial development, but also for whole‐body deletions when transmitted through subsequent generations. Several germ cell specific Cre mouse strains exist, with various… read more here.
Keywords: icre; deletion; germline; ddx4 ... See more keywords
Enhancing extracellular protein production in Escherichia coli by deleting the d‐alanyl‐d‐alanine carboxypeptidase gene dacC
Sign Up to like & getrecommendations! Published in 2019 at "Engineering in Life Sciences"
DOI: 10.1002/elsc.201800199
Abstract: d‐Alanyl‐d‐alanine carboxypeptidase DacC is important for synthesis and stabilization of the peptidoglycan layer of Escherichia coli. In this work, dacC of E. coli BL21 (DE3) was successfully deleted, and the effects of this deletion on… read more here.
Keywords: production; extracellular protein; dacc; coli ... See more keywords
Germline large deletion of BAP1 and decreased expression in non‐tumor choroid in uveal melanoma patients with high risk for inherited cancer
Sign Up to like & getrecommendations! Published in 2019 at "Genes"
DOI: 10.1002/gcc.22752
Abstract: Uveal melanoma (UM) is the most common phenotype in patients with germline BAP1 mutation. This study aimed to identify selection criteria for BAP1 germline testing and assessed the role of large deletion/duplication and epigenetic inactivation.… read more here.
Keywords: bap1; large deletion; uveal melanoma; deletion ... See more keywords
Deletion of RE1‐silencing transcription factor in striatal astrocytes exacerbates manganese‐induced neurotoxicity in mice
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DOI: 10.1002/glia.24226
Abstract: Chronic manganese (Mn) overexposure causes a neurological disorder, referred to as manganism, exhibiting symptoms similar to parkinsonism. Dysfunction of the repressor element‐1 silencing transcription factor (REST) is associated with various neurodegenerative diseases such as Parkinson's… read more here.
Keywords: induced neurotoxicity; astrocytic rest; deletion; rest ... See more keywords
Deletion of Nox4 enhances remyelination following cuprizone‐induced demyelination by increasing phagocytic capacity of microglia and macrophages in mice
Sign Up to like & getrecommendations! Published in 2022 at "Glia"
DOI: 10.1002/glia.24292
Abstract: NOX4 is a major reactive oxygen species‐producing enzyme that modulates cell stress responses. We here examined the effect of Nox4 deletion on demyelination–remyelination, the most common pathological change in the brain. We used a model… read more here.
Keywords: deletion; nox4 mice; remyelination; induced demyelination ... See more keywords
Chromosome 5 harbors two independent deletion hotspots at 5q13 and 5q21 that characterize biologically different subsets of aggressive prostate cancer
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DOI: 10.1002/ijc.33344
Abstract: Deletion of chromosome 5q is common in prostate cancer and is linked to aggressive disease. Most previous studies focused on 5q21 where CHD1 is located, but deletion of mapping studies has identified a second deletion… read more here.
Keywords: aggressive prostate; deletion; prostate cancer; 5q13 5q21 ... See more keywords
Igf1 Regulates Fibrocartilage Stem Cells, Cartilage Growth, and Homeostasis in the Temporomandibular Joint of Mice
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4782
Abstract: Temporomandibular joint (TMJ) growth requires orchestrated interactions between various cell types. Recent studies revealed that fibrocartilage stem cells (FCSCs) in the TMJ cartilage play critical roles as cell resources for joint development and repair. However,… read more here.
Keywords: cell; deletion; igf1; cartilage ... See more keywords
Dual‐specificity phosphatase 6 deletion protects the colonic epithelium against inflammation and promotes both proliferation and tumorigenesis
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cellular Physiology"
DOI: 10.1002/jcp.27420
Abstract: The Ras/mitogen‐activated protein kinase (MAPK) pathway controls fundamental cellular processes such as proliferation, differentiation, and apoptosis. The dual‐specificity phosphatase 6 (DUSP6) regulates cytoplasmic MAPK signaling by dephosphorylating and inactivating extracellular signal‐regulated kinase (ERK1/2) MAPK. To… read more here.
Keywords: dual specificity; phosphatase; deletion; dusp6 ... See more keywords