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Genes, Chromosomes and Cancer, ISSN 1045-2257, 11/2019, Volume 58, Issue 11, pp. 820 - 823
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
by Shi, HH and Fang, XX and Li, YF and Zhang, YC
MEDICAL SCIENCE MONITOR, ISSN 1643-3750, 10/2019, Volume 25, pp. 7430 - 7438
Background: Serine hydroxymethyltransferase (SHMT) is the enzyme that catalyzes the reversible conversion of serine to glycine and tetrahydrofolate-bound... 
MEDICINE, RESEARCH & EXPERIMENTAL | GLYCINE | Prognosis | METABOLISM | GENE | TBL1XR1 | Lymphatic Metastasis | Aminomethyltransferase | Stomach Neoplasms | REVEAL
Journal Article
Medical Science Monitor, ISSN 1234-1010, 07/2018, Volume 24, pp. 4934 - 4943
Background: Cervical cancer is one of the most common female malignancies in the world. The ubiquitin-specific protease 8 (USP8) functions by removing... 
Uterine cervical neoplasms | Neoplasm invasiveness | Prognosis | MEDICINE, RESEARCH & EXPERIMENTAL | APOPTOSIS | Uterine Cervical Neoplasms | Neoplasm Invasiveness | TBL1XR1 | CANCER | DEUBIQUITINATING ENZYMES
Journal Article
by Xu, WC and Wang, LL and An, Y and Ye, L
MEDICAL SCIENCE MONITOR, ISSN 1643-3750, 05/2019, Volume 25, pp. 3762 - 3770
Background: The WD repeat domain 5 (WDR5) is an essential component of methyltransferase complexes. The expression of WDR5 has been reported in several types... 
MEDICINE, RESEARCH & EXPERIMENTAL | Thyroid Neoplasms | Cell Proliferation | Prognosis | RECOGNITION | Biological Markers | Neoplasm Invasiveness | HISTONE H3 | TBL1XR1 | MUTATIONS | CANCER
Journal Article
Medical Science Monitor, ISSN 1234-1010, 07/2018, Volume 24, pp. 5216 - 5224
Backgrounds: G protein-coupled receptor 110 (GPR110) belongs to the subfamily of the adhesion G protein-coupled receptors (GPCRs). The potential role of GPR110... 
Cell proliferation | Osteosarcoma | Prognosis | PATHWAYS | MEDICINE, RESEARCH & EXPERIMENTAL | Cell Proliferation | METASTASIS | TBL1XR1 | COLORECTAL-CANCER | GPCRS | STAT3 | EXPRESSION
Journal Article
by Jiang, ZM and Yu, FH and Li, M
MEDICAL SCIENCE MONITOR, ISSN 1643-3750, 07/2018, Volume 24, pp. 4711 - 4717
Background: BCL2 19 kD protein-interacting protein 3 (BNIP3) is a BH3-containing protein of the BCL 2 family; it can regulate cell death, autophagy, and... 
MEDICINE, RESEARCH & EXPERIMENTAL | CHOLANGIOCARCINOMA | APOPTOSIS | METASTASIS | MITOPHAGY | bcl-2-Associated X Protein | AUTOPHAGY | Ciliary Body | Melanoma, Experimental | TBL1XR1 | COLORECTAL-CANCER | POOR-PROGNOSIS | Uveal Neoplasms | EXPRESSION | PROGRESSION
Journal Article
Oncotarget, ISSN 1949-2553, 09/2017, Volume 8, Issue 37, pp. 61626 - 61636
Transducin (beta)-like 1 X-linked receptor 1(TBL1XR1) has been reported to be overexpressed in various human cancers, as well as contributing to carcinogenesis... 
Biomarker | Prognosis | Clinicopathology | TBL1XR1 | Cancer | COMPLEX | TBLR1 | METASTASIS | OVARIAN-CANCER | biomarker | IDENTIFICATION | prognosis | CELL BIOLOGY | HEPATOCELLULAR-CARCINOMA | TBL1-TBLR1 | POOR-PROGNOSIS | clinicopathology | SQUAMOUS-CELL CARCINOMA | cancer
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2813 - 2818
Pierpont syndrome is a rare and sporadic syndrome, including developmental delay, facial characteristics, and abnormal extremities. Recently, a recurrent de... 
Pierpont syndrome | TBL1XR1 | COMPLEX | DEVELOPMENTAL DELAY | PLANTAR LIPOMATOSIS | GENETICS & HEREDITY | Phenotypes | Molecular modelling | Mutation | Clonal deletion | Localization | Gene deletion | Life Sciences | Genetics
Journal Article
Medical Science Monitor, ISSN 1234-1010, 05/2018, Volume 24, pp. 3050 - 3055
Background: Advanced-stage serous ovarian carcinoma results in the majority of deaths from ovarian carcinoma. The his- tone chaperone, Holliday... 
Biological markers | Ovarian neoplasms | Prognosis | MEDICINE, RESEARCH & EXPERIMENTAL | CELLS | CHOLANGIOCARCINOMA | ACTIVATION | Biological Markers | CENTROMERES | SIGNALING PATHWAY | TBL1XR1 | COLORECTAL-CANCER | Ovarian Neoplasms | GROWTH-FACTOR | CENP-A | PROGRESSION
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 01/2018, Volume 61, Issue 1, pp. 29 - 33
The gene product is a nuclear protein ubiquitously produced. The protein is a component of SMRT/N-CoR co-repressor complexes and participates in the molecular... 
Brain malformation | Microdeletion 3q26.32 | Intellectual disability | Cardiac malformation | Dysmorphisms | TBL1XR1 deletion | TBL1-TBLR1 | ACTIVATION | GENETICS & HEREDITY | DEVELOPMENTAL DELAY | PIERPONT-SYNDROME | PLANTAR LIPOMATOSIS
Journal Article
Journal Article
by Zhou, Q and Wang, X and Yu, Z and Wu, X and Chen, X and Li, J and Zhu, Z and Liu, B and Su, L
Oncogene, ISSN 0950-9232, 03/2017, Volume 36, Issue 13, pp. 1873 - 1886
Journal Article