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JOURNAL OF DERMATOLOGICAL SCIENCE, ISSN 0923-1811, 10/2017, Volume 88, Issue 1, pp. 139 - 141
Journal Article
Molecular Cell, ISSN 1097-2765, 05/2008, Volume 30, Issue 4, pp. 460 - 471
MicroRNAs (miRNAs) are small RNAs that function as posttranscriptional regulators of gene expression. miRNAs affect a variety of signaling pathways, and... 
RNA | CELLCYCLE | TRANSFORMATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | IN-VIVO | GENES | TRANSCRIPTION | CROSS-LINKING | SPLICE-SITE | AUTOANTIGEN | EXPRESSION | CANCER | CELL BIOLOGY
Journal Article
Journal of medical genetics, ISSN 0022-2593, 8/2018, Volume 55, Issue 8, pp. 555 - 560
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 8424 - 8424
To report two DFNA5 pathogenic splice-site variations and a novel benign frameshift variation to further support the gain-of-function mechanism of DFNA5... 
SPLICE-SITE MUTATION | GENE | CHINESE FAMILY | MULTIDISCIPLINARY SCIENCES | IMPAIRMENT
Journal Article
NUCLEIC ACIDS RESEARCH, ISSN 0305-1048, 06/2017, Volume 45, Issue 10, pp. 6051 - 6063
N-6-methyladenosine (m(6)A) is the most abundant internal modification in eukaryotic messenger RNA (mRNA), and affects almost every stage of the mRNA life... 
MA RNA | CELL-FREE FORMATION | N6-METHYLADENOSINE | PAR-CLIP | BIOCHEMISTRY & MOLECULAR BIOLOGY | YTH DOMAIN | SEX DETERMINATION | SPLICE-SITE | NUCLEAR-RNA | RBMX GENE | PRE-MESSENGER-RNA | RNA
Journal Article
Biochimie, ISSN 0300-9084, 10/2019, Volume 165, pp. 267 - 274
exon 14 skipping (exon 14Δ) mutations are associated with tumor sensitivity to a number of tyrosine kinase inhibitors, however clinical testing for gene status... 
MET exon 14 mutation | Alternative splicing | Splice site mutation | Lung carcinomas | Allele-specific expression | Index Medicus
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 4/2019, Volume 21, Issue 4, pp. 948 - 954
Journal Article
Clinical Immunology, ISSN 1521-6616, 06/2018, Volume 191, pp. 52 - 58
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare inherited disorder leading to severe organ-specific autoimmunity.... 
IPEX | Autoimmune diabetes mellitus | Splice site mutation | FOXP3 | HSCT | TReg | T | Index Medicus
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2014, Volume 42, Issue 13, pp. 8343 - 8355
BCL-X mRNA alternative splicing generates pro-apoptotic BCL-XS or anti-apoptotic BCL-XL gene products and the mechanism that regulates splice shifting is... 
BREAST-CANCER | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSCRIPTION | GENE-EXPRESSION | BINDING PROTEIN SAM68 | BCL-X(S) | MELANOMA-CELLS | 5'-SPLICE-SITE SELECTION | IDENTIFICATION | PRE-MESSENGER-RNA | CELL-DEATH | Index Medicus
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2019, Volume 105, Issue 3, pp. 573 - 587
A precise genetic diagnosis is the single most important step for families with genetic disorders to enable personalized and preventative medicine. In addition... 
branchpoint | 5′ splice site | abnormal splicing | non-coding variant | spliceosome assembly | pathogenic splice variant | intronic deletion | pre-mRNA splicing | Index Medicus
Journal Article