Keywords: DD; Danon disease; LAMP2; lysosome associated membrane protein 2; XCI; X-chromosome inactivation; iPSCs; induced pluripotent stem cells; iPSC-CMs; induced pluripotent stem cells derived cardiomyocytes like cells; PBMCs; peripheral blood mononuclear cells;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: Autism spectrum disorder; Chromosome microarray analysis; Diagnostic yield; Global developmental delay; SNP microarray; DSM-5; Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition; ID; Intellectual Disability; ISCA; International Standards
Discovering a familial Xp11.4 microduplication: Does the mother matter?
Keywords: XCI; X chromosome inactivation; ID; intellectual disability; GMDS-ER; Griffiths Mental Developmental Scales Extended Revised 0-8â¯years; ADOS; Autism Diagnostic Observation Schedule; ADI-R; Autism Diagnostic Interview-Revised; FISH; fluorescence in sit
Live cell imaging of X chromosome reactivation during somatic cell reprogramming
Keywords: iPSCs; induced pluripotent stem cells; ESCs; embryonic stem cells; XCR; X chromosome reactivation; XCI; X chromosome inactivation; EGFP; enhanced green fluorescent protein; hKO; humanized Kusabira Orange; Xist; X-inactive specific transcript; Xi; inactive
X-inactive-specific transcript: A long noncoding RNA with complex roles in human cancers
Keywords: AR; androgen receptor; ATG7; autophagy related 7; Bcl2; B-cell lymphoma-2; BRCA1; breast cancer-associated protein 1; CCND1; cyclin D1; CDK4/6; cyclin dependent kinase 4/6; CDX1; caudal type homeobox 1; CRC; colorectal cancer; EMT; epithelial mesenchymal
Disruption of AT-hook 1 domain in MeCP2 protein caused behavioral abnormality in mice
Keywords: Ab; antibody; bp; base pair; CRISPR/Cas9; clustered regularly interspaced short palindromic repeat/CRISPR associated proteins 9; CREB/miR132; cAMP-response element binding protein/micro RNA 132; hmC; hydroxymethylcytosine; GFAP; glial fibrillary acidic pr
The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome
Keywords: α-gal A; α-galactosidase A; Gb3; globotriaosylceramide; Gb2; galabiosylceramide; XCI; X-chromosomal inactivation; LVH; left ventricular hypertrophy; α-Galactosidase A; Globotriaosylceramide; Intellectual disability; X-chromosomal inactivation; Methylat
Zoledronic acid improves bone histomorphometry in a murine model of Rett syndrome
Keywords: Ïapp; apparent density; BFR/BS; bone formation rate per unit of bone surface; BV/TV; bone volume fraction; Ct.Th; cortical thickness; Mecp2-null; hemizygous male missing Mecp2; HET; heterozygous female; MeCP2; human and mouse protein methyl CpG binding p
Insights into the Establishment of Chromatin States in Pluripotent Cells from Studies of X Inactivation
Keywords: TE; trophectoderm lineage; ICM; inner cell mass; ES; embryonic stem; PcG; Polycomb group; XCI; X chromosome inactivation; Xi; inactive X chromosome; Xist; X-inactive specific transcript; E; embryonic day; animal development; pluripotent stem cell; chromat
Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region
Keywords: MECP2; the methyl CpG binding protein 2; XCI; X-chromosome inactivation; CMA; Chromosome microarray analysis; FGR; foetal growth restriction; CVS; chorionic villus sampling; AF; amniocentesis; RT-PCR; real-time polymerase chain reaction; VM; ventriculomeg
Tafazzin splice variants and mutations in Barth syndrome
Keywords: BTHS; Barth syndrome; CE; capillary electrophoresis; CL; cardiolipin; DCM; dilated cardiomyopathy; EBV; Epstein-Barr virus; EDTA; ethylenediaminetetraacetic acid; FAM; 6-carboxyfluorescein, 5-6-FAMâ¢; FL; full length; HPLC; high performance liquid chro
The X chromosome and immune associated genes
Keywords: Sex chromosomes; Genetic factors; Autoimmunity; Female preponderance; Etiopathogenesis; AID; autoimmune diseases; GWAS; genome-wide association study; PBC; primary biliary cirrhosis; MHC; major histocompatibility complex; PID; primary immunodeficiency syn
Molecular analysis of MECP2 gene in Egyptian patients with Rett syndrome
Keywords: Rett syndrome (RTT); MECP2; Missense; Nonsense; XCI
Interactions between age, sex, and hormones in experimental ischemic stroke
Keywords: AChE; acetylcholinesterase; AIF; apoptosis inducing factor; AMP; adenosine monophosphate; ATP; adenosine-5â²-triphosphate; AVPV; anteroventral periventricular nucleus; BDNF; brain-derived neurotrophic factor; bFGF; basic fibroblast growth factor; BTK; Br
X-changing information on X inactivation
Keywords: X chromosome inactivation; XCI; Stochastic; Xist; Tsix; Rnf12
Predictors of seizure onset in Rett syndrome
Keywords: CDKL5; Cyclin-dependent kinase-like 5; HC; Head circumference; HR; Hazard ratio; IQR; Interquartile range; MECP2; Methyl-CpG binding protein 2; NLS; Nuclear localization signal; RTT; Rett syndrome; STK9; Serine threonine kinase 9; TRD; Transcription repre