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ppp1cb (12) 12
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 03/2017, Volume 173, Issue 3, pp. 824 - 828
We report on a 12-year-old Brazilian boy with the p.Pro49Arg mutation in PPP1CB, a novel gene associated with RASopathies. This is the fifth individual... 
PPP1CB | craniosynostosis | LOOSE ANAGEN HAIR | GENETICS & HEREDITY | PPP1CB-related Noonan syndrome with loose anagen hair | RASopathies | Noonan syndrome-like disorder with loose anagen hair
Journal Article
BBA - Gene Regulatory Mechanisms, ISSN 1874-9399, 09/2019, Volume 1862, Issue 9, p. 194404
HOX proteins are homeodomain transcription factors critically involved in patterning animal embryos and controlling organogenesis. While the functions of HOX... 
HOX | PPP1CB | Post-translational modifications | Activity regulation | Nucleocytoplasmic shuttling | KPC2 | HOMEODOMAIN | DNA-BINDING | ACTIVATION | UBIQUITIN LIGASE | PHOSPHORYLATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | PBX | TALE TRANSCRIPTION FACTORS | BIOPHYSICS | HOMEOTIC TRANSFORMATION | HISTONE H3 | MYOSIN PHOSPHATASE
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 106 - 116
We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes... 
INTELLECTUAL DISABILITY | AUTISM | MOUSE MODEL | GENETICS & HEREDITY | MISSENSE MUTATION | SEGMENTAL DUPLICATIONS | DEVELOPMENTAL DELAY | SPECTRUM | TRUNCATING MUTATIONS | CLINICAL-SIGNIFICANCE | HAPLOINSUFFICIENCY | Autistic Disorder - genetics | Humans | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | DNA Copy Number Variations - genetics | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Mutation - genetics | Intellectual Disability - genetics | Exome - genetics | Phenotype | Animals | Chromosome Aberrations | Polymorphism, Single Nucleotide - genetics | Mice | Intracellular Signaling Peptides and Proteins - genetics | Gene mutations | Copy number variations | Analysis | Nervous system | Degeneration | Genetic aspects | Research | Morbidity | Neurosciences | Intellectual disabilities | Copy number | Genes | Disorders | Likelihood ratio | Genomes | Gene deletion | Neurodevelopmental disorders | Spiny neurons | Autism | Missense mutation | Clonal deletion | Reproduction (copying) | Neostriatum | Deletion | Gene duplication | Mutation | Chromosome 16 | TRIO | MYT1L | HNRNPU | EHMT1 | ENO3 | CAPN15 | SUV420H1 | PPP1CB | EFTUD2 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SOX5 | MAP2K1 | MEF2C | CSNK2A1 | TMEM178A | DYRK1A | CASK | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | HECW2 | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | Genetics of Developmental Delay | DLX3 | SET | KMT2A | SRCAP | ANP32A | STXBP1 | CUL3 | FOXG1 | ANKRD11 | ITPR1 | de novo Mutation | HIVEP3 | SNX5 | ZBTB18 | CREBBP | IQSEC2 | BCL11A | NONO | UPF3B | BRAF | ADAP1 | GRIN2B | SMARCA2 | SMARCA4 | MED13L | GNAO1 | AGO4 | DLG4 | CAPRIN1 | Neurodevelopmental Disorders | TCF4 | CDK13 | SCN2A | GABRB2 | KDM5B | SETD5 | DDX3X | CHD8 | PTEN | TCF20 | CTCF | CHD3 | CHD2 | WDR45 | SLC6A1 | MECP2 | SNAPC5 | SYNCRIP | TLK2 | CHAMP1 | KIF1A | RAC1 | TNPO2 | DNMT3A | MSL3 | PPP2R5D | ASH1L | SMC1A | ARID1B | CNKSR2 | PACS2 | SETBP1 | PIK3CA | PACS1 | WAC | ZMYND11 | SHANK3 | AHDC1 | SMARCD1 | WDR26 | NFIX | SATB2 | KIAA2022 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | LEO1 | DYNC1H1 | MBD5 | NAA10 | USP9X | PTPN11 | MEIS2 | GATAD2B | KANSL1 | ASXL3 | CTNNB1 | TRIP12 | QRICH1 | NAA15 | TAF1
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2018, Volume 176, Issue 9, pp. 2024 - 2027
Journal Article
Leukemia Research Reports, ISSN 2213-0489, 2015, Volume 4, Issue 2, pp. 51 - 54
Abstract Chronic lymphocytic leukemia (CLL) is the most frequent leukemia in Western adults. It was suggested that transcripts from a reciprocal trans-splicing... 
Hematology, Oncology and Palliative Medicine | Pathology | Trans-splicing | Chronic lymphocytic leukemia | YPEL5–PPP1CB | YPEL5-PPP1CB
Journal Article
Acta Biochimica et Biophysica Sinica, ISSN 1672-9145, 07/2006, Volume 38, Issue 7, pp. 450 - 456
To study the molecular basis of heterosis, suppression subtractive hybridization was used to investigate the differences in gene expression between porcine... 
PPP1CB | heterosis | differential gene expression | suppression subtractive hybridization | pig | Gene expression
Journal Article
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