| SETD5 haploinsufficiency affects mitochondrial compartment in neural cells. | SETD5 haploinsufficiency affects mitochondrial compartment in neural cells.
Zaghi M, Longo F, Massimino L, Rubio A, Bido S, Mazzara PG, Bellini E, Banfi F, Podini P, Maltecca F, Zippo A, Broccoli V, Sessa A., Free PMC Article | 06/7/2023 |
| Structure, activity and function of the lysine methyltransferase SETD5. | Structure, activity and function of the lysine methyltransferase SETD5.
Li M, Hou Y, Zhang Z, Zhang B, Huang T, Sun A, Shao G, Lin Q., Free PMC Article | 03/8/2023 |
| SETD5 Regulates Glycolysis in Breast Cancer Stem-Like Cells and Fuels Tumor Growth. | SETD5 Regulates Glycolysis in Breast Cancer Stem-Like Cells and Fuels Tumor Growth.
Yang Z, Zhang C, Liu X, Che N, Feng Y, Xuan Y. | 05/14/2022 |
| SET Domain-Containing Protein 5 Enhances the Cell Stemness of Non-Small Cell Lung Cancer via the PI3K/Akt/mTOR Pathway. | SET Domain-Containing Protein 5 Enhances the Cell Stemness of Non-Small Cell Lung Cancer via the PI3K/Akt/mTOR Pathway.
Chen Q, Sun Z, Li J, Zhang D, Guo B, Zhang T. | 04/13/2021 |
| The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. | The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.
Pinard A, Guey S, Guo D, Cecchi AC, Kharas N, Wallace S, Regalado ES, Hostetler EM, Sharrief AZ, Bergametti F, Kossorotoff M, Hervé D, Kraemer M, Bamshad MJ, Nickerson DA, Smith ER, Tournier-Lasserve E, Milewicz DM., Free PMC Article | 03/27/2021 |
| Su(var)3-9, Enhancer of Zeste, and Trithorax Domain-Containing 5 Facilitates Tumor Growth and Pulmonary Metastasis through Up-Regulation of AKT1 Signaling in Breast Cancer. | Su(var)3-9, Enhancer of Zeste, and Trithorax Domain-Containing 5 Facilitates Tumor Growth and Pulmonary Metastasis through Up-Regulation of AKT1 Signaling in Breast Cancer.
Yang Z, Zhang C, Che N, Feng Y, Li C, Xuan Y. | 01/23/2021 |
| SET domain-containing 5 is a potential prognostic biomarker that promotes esophageal squamous cell carcinoma stemness. | SET domain-containing 5 is a potential prognostic biomarker that promotes esophageal squamous cell carcinoma stemness.
Piao L, Li H, Feng Y, Yang Z, Kim S, Xuan Y. | 11/21/2020 |
| Study results suggest that SETD5 could regulate p-P90RSK and facilitate the migration and invasion of non-small cell lung cancer (NSCLC) and may be related to the poor prognosis of patients with NSCLC. | SET domain containing protein 5 (SETD5) enhances tumor cell invasion and is associated with a poor prognosis in non-small cell lung cancer patients.
Yu H, Sun J, Zhao C, Wang H, Liu Y, Xiong J, Chang J, Wang M, Wang W, Ye D, Zhou H, Yu T., Free PMC Article | 02/15/2020 |
| We suggest that the phenotype of SETD5 is more complex and variable than previously presented. Therefore, many features and presentations need to be considered when evaluating a patient for SETD5 alterations through Diagnostic exome sequencing . | Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
Powis Z, Farwell Hagman KD, Mroske C, McWalter K, Cohen JS, Colombo R, Serretti A, Fatemi A, David KL, Reynolds J, Immken L, Nagakura H, Cunniff CM, Payne K, Barbaro-Dieber T, Gripp KW, Baker L, Stamper T, Aleck KA, Jordan ES, Hersh JH, Burton J, Wentzensen IM, Guillen Sacoto MJ, Willaert R, Cho MT, Petrik I, Huether R, Tang S. | 10/5/2019 |
| These co-occurring hits involved known disease-associated genes such as SETD5, AUTS2, and NRXN1, and were enriched for cellular and developmental processes. Accurate genetic diagnosis of complex disorders will require complete evaluation of the genetic background even after a candidate disease-associated variant is identified | Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S., Free PMC Article | 06/22/2019 |
| Review mapped the clinical phenotypes of 42 individuals carrying mutations on the SETD5 gene, with 23.8% presenting autistic-like features. Most of mutations occurred between positions 9,480,000-9,500,000 bp on chromosome 3 (3p25.3) at the SETD5 gene locus. In all males, mutations in SETD5 presented high penetrance, while in females the clinical phenotype seems more variable. | Genetic variations on SETD5 underlying autistic conditions.
Fernandes IR, Cruz ACP, Ferrasa A, Phan D, Herai RH, Muotri AR. | 11/10/2018 |
| We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. Interestingly, the father demonstrated only mild intellectual impairment. | SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
Szczałuba K, Brzezinska M, Kot J, Rydzanicz M, Walczak A, Stawiński P, Werner B, Płoski R. | 10/21/2017 |
| SETD5 frameshift mutation identified in a patient with mild intellectual disability. | SETD5 gene variant associated with mild intellectual disability - a case report.
Stur E, Soares LA, Louro ID. | 09/30/2017 |
| SETD5 sequence variants contribute substantially to the microdeletion 3p25.3 phenotype. SETD5 variants as a relatively frequent cause of intellectual disability. | Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM, Novarino G, Engels H., Free PMC Article | 02/6/2016 |
| miR126-5p is a functional, endothelial-enriched microRNA that participates in the control of leucocyte trafficking by regulating the expression of ALCAM and SetD5. | miR126-5p repression of ALCAM and SetD5 in endothelial cells regulates leucocyte adhesion and transmigration.
Poissonnier L, Villain G, Soncin F, Mattot V. | 03/7/2015 |
| analysis provides sufficient evidence that rare de novo LoF mutations in SETD5 are a relatively frequent (0.7%) cause of intellectual disability | De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Grozeva D, Carss K, Spasic-Boskovic O, Parker MJ, Archer H, Firth HV, Park SM, Canham N, Holder SE, Wilson M, Hackett A, Field M, Floyd JA, UK10K Consortium, Hurles M, Raymond FL., Free PMC Article | 05/31/2014 |