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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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DiGeorge chromosome 22

DiGeorge chromosome 22
(A) Schematic of chromosome 22 demonstrating critical DiGeorge syndrome (DGS) region, site of commercially available FISH probes and genes encoded with DGS region.
(B) FISH analysis of metaphase spread using commercially available chromosome 22q11.2 probe (green areas, white arrows) and control chromosome 22 probe outside of critical DGS region (red areas, orange arrows). Left panel: patient with chromosome 22q11.2 deletion as demonstrated by binding of 22q11.2 probe to only one chromosome. Right panel: normal control with binding of probe to both copies of chromosome 22.
TUPLE1: TUP-like enhancer of SPLIT1 (a transcription regulator); IDD: integral membrane protein deleted in DiGeorge syndrome; STK22 A: homolog of mouse serine/threonine protein kinase 22 D; PRODH: proline dehydrogenase (oxidase 1); GSCL: goosecoid homeobox 2; SLC25 A1: solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1; DVL1L1: dishevelled segment polarity protein 1 pseudogene 1; CLTCL1: clathrin, heavy chain-like 1; HIRA: histone cell cycle regulator; NLVCF: mitochondrial ribosomal protein L40; UFD1L: ubiquitin fusion degradation 1 like (yeast); CDC45L: cell division cycle 45; CLDN5: claudin 5; PNUTL1: septin 5; CDCrel-1: cell division cycle-related; GP1bb: glycoprotein 1b (platelet), beta polypeptide; TBX1: T-box transcription factor; COMT: catechol-O-methyltransferase; TR: T cell receptors; ARVCF: armadillo repeat gene deleted in velocardiofacial syndrome; LAMC1: laminin, gamma 1 (formerly LAMB2); DGCR6: DiGeorge critical region gene 6; RANBP1: RAN binding protein 1; ZNF74: zinc finger protein 74; HCF2: serpin peptidase inhibitor, clade D (heparin cofactor), member 1; PIK4CA: phosphatidylinositol 4-kinase, catalytic, alpha; SNAP29: synaptosomal-associated protein, 29kDa; CRKL: V-CRK avian sarcoma virus CT10 oncogene homolog-like; LZTR1: leucine-zipper-like transcription regulator 1; P2RX L1: purinergic receptor P2X, ligand gated ion channel, 6; SLC7A4: solute carrier family 7, member 4; FISH: fluorescence in situ hybridization.
Graphic 65172 Version 3.0

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