Tessadori-Bicknell-van Haaften syndrome variants: nucleosome assembly (Homo sapiens)
From WikiPathways
Description
Tessadori-Bicknell-van Haaften syndrome: Subset to the TEBINVAD causing genes involved in nucleosome assembly. For an overview of all genes and pathways involved see [WP5575](http://wikipathways.org/instance/WP5575).
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Ontology Terms
Saving...Bibliography
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- Richardson RT, Alekseev OM, Grossman G, Widgren EE, Thresher R, Wagner EJ, Sullivan KD, Marzluff WF, O'Rand MG; ''Nuclear autoantigenic sperm protein (NASP), a linker histone chaperone that is required for cell proliferation.''; J Biol Chem, 2006 PubMed Europe PMC Scholia
- Okuwaki M, Kato K, Nagata K; ''Functional characterization of human nucleosome assembly protein 1-like proteins as histone chaperones.''; Genes Cells, 2010 PubMed Europe PMC Scholia
- Yu Z, Liu J, Deng WM, Jiao R; ''Histone chaperone CAF-1: essential roles in multi-cellular organism development.''; Cell Mol Life Sci, 2015 PubMed Europe PMC Scholia
- Sekulic N, Bassett EA, Rogers DJ, Black BE; ''The structure of (CENP-A-H4)(2) reveals physical features that mark centromeres.''; Nature, 2010 PubMed Europe PMC Scholia
- Feng L, Barrows D, Zhong L, Mätlik K, Porter EG, Djomo AM, Yau I, Soshnev AA, Carroll TS, Wen D, Hatten ME, Garcia BA, Allis CD; ''Altered chromatin occupancy of patient-associated H4 mutants misregulate neuronal differentiation.''; bioRxiv, 2023 PubMed Europe PMC Scholia
- Tessadori F, Duran K, Knapp K, Fellner M, Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G; ''Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.''; Am J Hum Genet, 2022 PubMed Europe PMC Scholia
- Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK; ''Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.''; Am J Hum Genet, 2019 PubMed Europe PMC Scholia
- Tsunaka Y, Fujiwara Y, Oyama T, Hirose S, Morikawa K; ''Integrated molecular mechanism directing nucleosome reorganization by human FACT.''; Genes Dev, 2016 PubMed Europe PMC Scholia
History
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External references
DataNodes
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| Name | Type | Database reference | Comment |
|---|---|---|---|
| ATRX | GeneProduct | ENSG00000085224 (Ensembl)  | |
| CHAF1A | GeneProduct | ENSG00000167670 (Ensembl) | |
| CHAF1B | GeneProduct | ENSG00000159259 (Ensembl) | |
| DAXX | GeneProduct | ENSG00000204209 (Ensembl) | |
| H2A | Protein | B2R5B3 (Uniprot-TrEMBL) | |
| H2B | Protein | B4DR52 (Uniprot-TrEMBL) | |
| H2BC12 | GeneProduct | ENSG00000197903 (Ensembl) | |
| H3.3 | GeneProduct | ||
| H3 | Protein | B4E380 (Uniprot-TrEMBL) | |
| H4C11 | GeneProduct | ENSG00000197238 (Ensembl) | |
| H4C1 | GeneProduct | ENSG00000278637 (Ensembl) | |
| H4C3 | GeneProduct | ENSG00000197061 (Ensembl) | |
| H4C5 | GeneProduct | ENSG00000276966 (Ensembl) | |
| H4C9 | GeneProduct | ENSG00000276180 (Ensembl) | |
| H4 | Protein | P62805 (Uniprot-SwissProt) | |
| HIRA | GeneProduct | ENSG00000100084 (Ensembl) | |
| LOC129996027 | GeneProduct | ||
| RBBP4 | GeneProduct | ENSG00000162521 (Ensembl) |
Annotated Interactions
No annotated interactions
