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| 1 | Genes for RNA-binding proteins involved in neuralspecific functions and diseases are downregulated in Rubinstein-Taybi iNeurons显示文摘Taking advantage of the fast-growing knowledge of RNA-binding proteins(RBPs)we review the signature of downregulated genes for RBPs in the transcriptome of induced pluripotent stem cell neurons(iNeurons)modelling the neurodevelopmental Rubinstein Taybi Syndrome(RSTS)caused by mutations in the genes encoding CBP/p300 acetyltransferases.We discuss top and functionally connected downregulated genes sorted to“RNA processing”and“Ribonucleoprotein complex biogenesis”Gene Ontology clusters.The first set of downregulated RBPs includes members of hnRNHP(A1,A2B1,D,G,H2-H1,MAGOHB,PAPBC),core subunits of U small nuclear ribonucleoproteins and Serine-Arginine splicing regulators families,acting in precursor messenger RNA alternative splicing and processing.Consistent with literature findings on reduced transcript levels of serine/arginine repetitive matrix 4(SRRM4)protein,the main regulator of the neural-specific microexons splicing program upon depletion of Ep300 and Crebbp in mouse neurons,RSTS iNeurons show downregulated genes for proteins impacting this network.We link downregulated genes to neurological disorders including the new HNRNPH1-related intellectual disability syndrome with clinical overlap to RSTS.The set of downregulated genes for Ribosome biogenesis includes several components of ribosomal subunits and nucleolar proteins,such NOP58 and fibrillarin that form complexes with snoRNAs with a central role in guiding post-transcriptional modifications needed for rRNA maturation.These nucleolar proteins are“dual”players as fibrillarin is also required for epigenetic regulation of ribosomal genes and conversely NOP58-associated snoRNA levels are under the control of NOP58 interactor BMAL1,a transcriptional regulator of the circadian rhythm.Additional downregulated genes for“dual specificity”RBPs such as RUVBL1 and METTL1 highlight the links between chromatin and the RBP-ome and the contribution of perturbations in their cross-talk to RSTS.We underline the hub position of CBP/p300 in chromatin regulation,the impact of its defect on neurons’post-transcriptional regulation of gene expression and the potential use of epidrugs in therapeutics of RBP-caused neurodevelopmental disorders. | Lidia Larizza Luciano Calzari Valentina Alari Silvia Russo | 2022 | Neural Regeneration Research2022，17，1： | 2 |
| 2 | Thyroid volume is progressively reduced as a sequela of neck irradiation for childhood Hodgkin's disease显示文摘 | Larizza D Sommaruga G | 1998 | Haematologica1998，83，8： | 1 |
| 3 | Lineage specificity of the evolutionary dynamics of the mtDNA D-loop region in rodents 显示文摘 | Alessandra Larizza Graziano P esole Aurelio Reyes | 2002 | J Mol Evol2002，54，： | 1 |
| 4 | Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction显示文摘 | Silvia Tabano Patrizia Colapietro Irene Cetin Francesca R. Grati Susanna Zanutto Chiara Mandò Patrizio Antonazzo Paola Pileri Franca Rossella Lidia Larizza Silvia M. Sirchia Monica Miozzo | 2010 | Epigenetics2010，，4： | 1 |
| 5 | Celiac disease in children with autoimmune thyroid disease显示文摘 | Daniela Larizza Valeria Calcaterra Costantino De Giacomo Annalisa De Silvestri Margherita Asti Carla Badulli Michele Autelli Eliana Coslovich Miryam Martinetti | 2001 | The Journal of Pediatrics2001，，5： | 1 |
| 6 | Rothmund-Thomson syndrome显示文摘 | LARIZZA L ROVERSI G VOLPI L | 2010 | Orphanet Journal of Rare Diseases2010，5，2： | 1 |
| 7 | The Kasumi-1 cell line: a t(8; 21)-kit mutant model for acute myeloid leukenfia显示文摘 | Larizza L Magalani I Beghini A | 2005 | Leuk Lympho- ma2005，46，2： | 1 |
| 8 | Hypothalamic-pituitary dysfunction in growth hormone deficient patients with pituitary abnormalities显示文摘 | Maghnie M Triulzi F Larizza D | 1991 | J Clin Endocrinol Metab1991，73，1： | 1 |
| 9 | Hypopituitarism and stalk agenesis:a congenital syndrome worsened by breech delivery显示文摘 | Maghnie M Larizza D Triulzi F | 1991 | Horm Res1991，35，34： | 1 |
| 10 | Insulin - like growth factors (IGF- I and IGF -2) and IGF binding protein 3 production by fibroblasts of patients with Turner's syndrome in culture显示文摘 | Barreea A Larizza D Damonte G | 1997 | J Clin Endocrinol Metab1997，82，4： | 1 |
| 11 | Lineage specificity of the evolutionary dynamics of the mtDNA D-loop region in rodents显示文摘 | Larizza A | 2002 | J Mol Evol2002，54，： | 1 |
| 12 | Congenital central nervous system abnormalities, idiopathhic hypotituitsrism and breech delivery what is the connection? 显示文摘 | MAGHNIE M LARIZZA D ZULIANI I | 1993 | Eur J Pediatr1993，152，2： | 1 |
| 13 | Common immunogenetic profile in children with multiple autoimmune diseases: the signature of HLA-DQ pleiotropic genes显示文摘 | Daniela Larizza Valeria Calcaterra Catherine Klersy Carla Badulli Claudia Caramagna Antonio Ricci Paola Brambilla Laura Salvaneschi Miryam Martinetti | 2012 | Autoimmunity2012，，6： | 1 |
| 14 | Autoimmune hypothyroidism and hypothyroidism in patients with Turners syndrome 显示文摘 | Chiovato L Larizza D Bendinelli G | 1996 | Eur J Endocrinol1996，134，5： | 1 |
| 15 | Rothmund-Thomson syndrome and RECQL4defect:splitting and lumping显示文摘 | Larizza L Magnani I Roversi G | 2006 | Cancer Lett2006，232，1： | 1 |
| 16 | The Kasumi-1 cell line: a t(8;21)-kit mutant model for acute myeloid leukemia 显示文摘 | LARIZZA L MAGNANI I BEGHINI A | 2005 | Leuk Lymphoma2005，46，： | 1 |
| 17 | TA-clustering:Cluster analysis of gene expression profiles through themporal abstractions显示文摘 | Sacchi L Bellazzi R Larizza C | 2005 | Int J Med Inf2005，74，： | 1 |
| 18 | Griseofulvin显示文摘 | Carl LD Larizza L | 1988 | Mutat Res Rev Genet Toxicol1988，195，2： | 1 |
| 19 | Familial occurrence of Turner syndrome :casual event or increased risk?显示文摘 | Larizza D Danesino C Maraschio P | 2011 | J Pediatr Endocrinol Metab2011，24，： | 1 |
| 20 | Trisomy 4 Leading to Duplication of a Mutated KIT Allele in Acute Myeloid Leukemia with Mast Cell Involvement显示文摘 | Alessandro Beghini Carla B Ripamonti Pierangela Castorina Laura Pezzetti Luisa Doneda Roberto Cairoli Enrica Morra Lidia Larizza | 2000 | Cancer Genetics and Cytogenetics2000，，1： | 1 |
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