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PLoS genetics, ISSN 1553-7390, 10/2016, Volume 12, Issue 10, p. e1006260
Journal Article
STEM CELLS, ISSN 1066-5099, 01/2014, Volume 32, Issue 1, pp. 126 - 134
Long noncoding RNAs (lncRNAs) have emerged as new regulators of stem cell pluripotency and tumorigenesis. The SOX2 gene, a master regulator of pluripotency, is... 
SOX2 | LncRNA | Novel spliced variants | Stem cell | ESCC | SOX2OT | LUNG | LONG NONCODING RNAS | CANCER | GENOME | CELL & TISSUE ENGINEERING | CELL BIOLOGY | ONCOGENE | ONCOLOGY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | EMBRYONIC STEM-CELLS | DISEASE | GENE-EXPRESSION | DIFFERENTIATION | HEMATOLOGY | HUMAN PLURIPOTENT | Up-Regulation | Carcinoma, Squamous Cell - genetics | Carcinoma, Squamous Cell - metabolism | Carcinoma, Squamous Cell - pathology | Humans | Octamer Transcription Factor-3 - biosynthesis | Esophageal Neoplasms - pathology | Octamer Transcription Factor-3 - genetics | Cell Differentiation - genetics | RNA Splicing | RNA Interference | SOXB1 Transcription Factors - genetics | Esophageal Neoplasms - metabolism | Cell Culture Techniques | Esophageal Squamous Cell Carcinoma | Pluripotent Stem Cells - cytology | Embryonal Carcinoma Stem Cells - cytology | Pluripotent Stem Cells - physiology | RNA, Long Noncoding - genetics | SOXB1 Transcription Factors - biosynthesis | Pluripotent Stem Cells - metabolism | Embryonal Carcinoma Stem Cells - physiology | Esophageal Neoplasms - genetics | Protein Isoforms | Embryonal Carcinoma Stem Cells - metabolism | RNA, Long Noncoding - metabolism | Development and progression | Squamous cell carcinoma | Esophageal cancer | Tumors | Stem cells | Cell cycle | Alternative splicing
Journal Article
Genetics in medicine, ISSN 1098-3600, 07/2018, Volume 20, Issue 7, pp. 717 - 727
Journal Article
BMC MEDICAL GENETICS, ISSN 1471-2350, 01/2020, Volume 21, Issue 1, pp. 18 - 8
.... To date, pathogenic variants in over 35 genes are known to cause autosomal recessive Joubert Syndrome, while one gene is associated with X-linked recessive inheritance... 
Whole exome sequencing | Joubert syndrome | GENETICS & HEREDITY | Novel TMEM67 splice-site variant | DISORDERS | MKS3 | MUTATIONS | Molar tooth sign | Kidney Diseases, Cystic - diagnosis | Retina - metabolism | Humans | Male | Cerebellum - abnormalities | Vietnam | Kidney Diseases, Cystic - genetics | Adult | Female | Child | Abnormalities, Multiple - genetics | Kidney Diseases, Cystic - physiopathology | Eye Abnormalities - diagnosis | Genetic Predisposition to Disease | Membrane Proteins - genetics | Retina - physiopathology | Exons - genetics | Cerebellum - physiopathology | Eye Abnormalities - genetics | Mutation - genetics | Abnormalities, Multiple - physiopathology | Whole Exome Sequencing | Magnetic Resonance Imaging | Pedigree | Abnormalities, Multiple - diagnosis | Retina - abnormalities | Eye Abnormalities - physiopathology | Retina - pathology | Protein Isoforms - genetics | Case studies | Genetic aspects | Genetic variation | Health aspects | Cerebellum | Brain | Cerebral palsy | Transcription | Congenital defects | Genomics | Genes | Cognitive ability | Genomes | Nucleotides | Family medical history | Gestation | Neurodevelopmental disorders | Risk assessment | Ataxia | Paralysis | Diagnosis | Chromosomes | Ultrasound | Age | Deoxyribonucleic acid--DNA | Hypoplasia | Genetic disorders | Liver diseases | Fetuses | Teeth | Heredity | Pregnancy | Genetic counseling | Magnetic resonance imaging | Aplasia | Cytogenetics | Mutation | Kidney diseases | Respiration
Journal Article
ARCHIVES OF MEDICAL SCIENCE, ISSN 1734-1922, 02/2020, Volume 16, Issue 2, pp. 453 - 459
Introduction: Abnormality in HBB results in an inherited recessive blood disorder, which can be caused by variants at the transcriptional or translational level affecting the stability and the production of the HBB chain... 
hematological disorders | POPULATION | MEDICINE, GENERAL & INTERNAL | PROTEIN | novel variants | TRAIT | THALASSEMIA MUTATIONS | HBB gene | hemoglobin | DNA sequencing | HEMOGLOBIN-VARIANTS | ALPHA-GLOBIN | Mutation | dna sequencing | hbb gene
Journal Article