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BLOOD, ISSN 0006-4971, 10/2009, Volume 114, Issue 18, pp. 3935 - 3937
Sardinian beta-thalassemia patients all are homozygotes for the same null allele in the beta-globin gene, but the clinical manifestations are extremely... 
FETAL-HEMOGLOBIN LEVELS | BCL11A | PHENOTYPE | HBS1L-MYB | HEMATOLOGY
Journal Article
Molecular and Cellular Biology, ISSN 0270-7306, 01/2018, Volume 38, Issue 1
Recombination activating gene 1 (RAG1) and RAG2 are critical enzymes for initiating variable-diversity-joining [V(D)J] segment recombination, an essential... 
RAG | Bcl11a | Immunology | B cell development | V(D)J
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Theranostics, ISSN 1838-7640, 2018, Volume 8, Issue 14, pp. 4003 - 4015
Circular RNAs (circRNAs) represent a class of non-coding RNAs that play a vital role in modulating gene expression and several pathological responses. However,... 
BCL11A | Circular RNAs | CircEPSTI1 | Competing endogenous RNAs | Triple-negative breast cancer | MEDICINE, RESEARCH & EXPERIMENTAL | triple-negative breast cancer | CIRCULAR RNA | BIOMARKER | ABNORMALITIES | competing endogenous RNAs | IDENTIFICATION | circular RNAs | SEQUENCE | circEPSTI1 | 13Q14 | MICRORNA TARGET PREDICTION
Journal Article
Journal Article
Hematology, ISSN 1024-5332, 03/2016, pp. 1 - 5
Fetal hemoglobin (HbF) modulates the phenotype of sickle cell anemia (SCA) by inhibiting deoxy sickle hemoglobin (HbS) polymerization. HbF genes are... 
HbF | Sickle cell anemia | BCL11A gene
Journal Article
HUMAN GENETICS, ISSN 0340-6717, 03/2010, Volume 127, Issue 3, pp. 303 - 314
beta-Thalassemia/HbE disease is clinically variable. In searching for genetic factors modifying the disease severity, patients were selected based on their... 
FETAL-HEMOGLOBIN LEVELS | POLYMORPHISMS | BCL11A | E BETA-THALASSEMIA | GENETICS & HEREDITY | INTERGENIC TRANSCRIPTION | GLOBIN LOCUS | HBS1L-MYB | EXPRESSION | THALASSEMIA/HB-E DISEASE | REGION
Journal Article
Genes and Development, ISSN 0890-9369, 04/2010, Volume 24, Issue 8, pp. 783 - 789
Journal Article
Journal of Cellular Biochemistry, ISSN 0730-2312, 11/2018, Volume 119, Issue 11, pp. 9357 - 9363
Elevation of Hemoglobin F ameliorates symptoms of β‐thalassemia, a common autosomal recessive disorder. The transcription factor SOX6 plays a key role in the γ... 
Beta‐Thalassemia | CRISPR/Cas9 | gamma‐Globins | SOX6 | Beta-Thalassemia | gamma-Globins | CRISPR | BCL11A | BIOCHEMISTRY & MOLECULAR BIOLOGY | INDUCTION | CELL BIOLOGY | FETAL-HEMOGLOBIN | MYB | Cas9 | EXPRESSION | ERYTHROID-DIFFERENTIATION
Journal Article
BLOOD, ISSN 0006-4971, 06/2018, Volume 131, Issue 26, pp. 2915 - 2928
Disorders involving beta-globin gene mutations, primarily beta-thalassemia and sickle cell disease, represent a major target for hematopoietic stem/progenitor... 
CD34(+) CELLS | INTRAVENOUS-INJECTION | BCL11A | DISEASE | FETAL-HEMOGLOBIN EXPRESSION | GENE-EXPRESSION | ADENOVIRAL VECTORS | HEREDITARY PERSISTENCE | HEMATOLOGY | EFFICIENT | BLOOD-CELLS | Gene Therapy
Journal Article