- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1
GeneName: DICER1 PMCID: PMC7859642 HGNCID: Unavailable Inheritance Pattern: Autosomal dominant. Disease Entity: Familial pleuropulmonary blastoma (PPB), cervix embryonal rhabdomyosarcoma, multinodular goiter, nasal chondromesenchymal hemartoma, Ciliary body medulloepithelioma, Sertoli-Leydig Cell Tumor (SLCT), differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, cystic nephroma, Wilm's tumor and sarcomas of different sites including, amongst others, the uterine cervix, kidney and brain. Mutation: Germline Zygosity: Heterozygose Variant: No ClinVarID present. Family Information: No family outline Case: No specified information of patients included. CasePresentingHPO's: n/a CasePrevious Testing: n/a gnomAD: n/a Mutation Type: nonsense, frameshift, or splice affected.
Tags
- Multinodular goiter
- Sertoli-Letdig Cell Tumor(SLCT)
- Zygosity: Heterozygous
- Cervix embryonal rhabdomyosarcoma
- Gene: DICER1
- Ciliary body medulloepitheliomma
- Inheritance Pattern: Autosomal dominant
- PMCID: PMC7859642
- Mutation type: Nonsense
- Mutation: Germline
- Mutation type: Frameshift
- Differentiated thyroid carcinoma
- Familial pleuropulmonary blastoma (PPB)
- Nasal chondromesenchymal hemartoma
- Wilm's tumor
Annotators
URL
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- Mar 2018
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www.futuremedicine.com www.futuremedicine.com
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Cell-type deconvolution in epigenome-wide association studies: a review and recommendations
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www.nature.com www.nature.com
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Limits of Peripheral Blood Mononuclear Cells for Gene Expression-Based Biomarkers
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- Nov 2017
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Robust enumeration of cell subsets from tissue expression profiles
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- Jan 2016
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Neurons within a type also tended to have the same dendritic arborization pattern and electrophysiological properties, but as for L23 interneurons, these properties were often not cell type–specific (figs. S3, C and F, and S4).
So, dendritic patterns not unique but axonal patterns unique.
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The remaining five types have not been previously described in L5, and we named them as follows: neurogliaform cells (L5NGCs), basket cells (L5BCs), shrub cells (SCs), horizontally elongated cells (HECs), and deep-projecting cells (DCs)
New classifications for layer 5 interneurons
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L23 Martinotti cells
Layer-based classification
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owever, many of them (~60%) had atypical axonal projection patterns compared to those previously described for SBCs, and their axon arborized mostly within L1, with only one or two side branches extending to deep layers (not deeper than L4). Despite their variable axonal projection patterns, non-neurogliaform L1 neurons shared similar dendritic and electrophysiological features (tables S1 and S2) and similar connectivity profiles (table S3) that correspond to SBCs in rat somatosensory cortex (5, 12). We thus refer to this group as SBC-like cells
Qualification: SBC-like cells
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neurogliaform cells
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