| Association Between CYP2D7 and TCF20 Polymorphisms and Coronary Heart Disease. | Association Between CYP2D7 and TCF20 Polymorphisms and Coronary Heart Disease.
Zhang W, Wan P, Zhang M, Chang Y, Du S, Jin T, Wang Y. | 09/20/2024 |
| Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant. | Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant.
Schneeweiss MR, Dale B, Ejaz R., | 03/9/2023 |
| Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder. | Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
Lévy J, Cogan G, Maruani A, Maillard A, Dupont C, Drunat S, Rachid M, Atzori P, Delorme R, Jeyarajah S, Isidor B, Pichon O, Moradkhani K, Verloes A, Tabet AC. | 04/30/2022 |
| We provide valuable data regarding the prognosis and clinical manifestations of patients with variants in TCF20. | Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J., Free PMC Article | 02/8/2020 |
| TCF20 pathogenic variants are associated with a novel syndrome manifesting clinical characteristics similar to those observed in Smith-Magenis syndrome. | De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P., Free PMC Article | 06/15/2019 |
| Nonsense and one frameshift variant of TCF20 were identified the patients with intellectual disability and postnatal overgrowth. Such de novo variants of TCF20 may represent a novel differential diagnosis in the overgrowth syndrome spectrum. | De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
Schäfgen J, Cremer K, Becker J, Wieland T, Zink AM, Kim S, Windheuser IC, Kreiß M, Aretz S, Strom TM, Wieczorek D, Engels H., Free PMC Article | 07/15/2017 |
| mutations in TCF20 are associated with Autism spectrum disorders | De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ, International Molecular Genetic Study of Autism Consortium (IMGSAC), Parr JR, Wilkie AO., Free PMC Article | 08/1/2015 |
| SPBP is a transcriptional coactivator of NRF2 regulating expression of the autophagy receptor p62. | SPBP is a sulforaphane induced transcriptional coactivator of NRF2 regulating expression of the autophagy receptor p62/SQSTM1.
Darvekar SR, Elvenes J, Brenne HB, Johansen T, Sjøttem E., Free PMC Article | 09/6/2014 |
| evolutionary conservation of chromatin binding of SPBP and RAI1 | A phylogenetic study of SPBP and RAI1: evolutionary conservation of chromatin binding modules.
Darvekar S, Rekdal C, Johansen T, Sjøttem E., Free PMC Article | 08/9/2014 |
| Study has identified SPBP as a transcriptional coactivator of AR. We also show that Pax6 inhibits SPBP-mediated enhancement of AR activity on the AR target gene probasin promoter, a repression that was partly reversed by increased expression of SPBP. | Pax6 represses androgen receptor-mediated transactivation by inhibiting recruitment of the coactivator SPBP.
Elvenes J, Thomassen EI, Johnsen SS, Kaino K, Sjøttem E, Johansen T., Free PMC Article | 03/3/2012 |
| Meta-analysis of gene-disease association. (HuGE Navigator) | Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation.
Kim ST, Cheng Y, Hsu FC, Jin T, Kader AK, Zheng SL, Isaacs WB, Xu J, Sun J., Free PMC Article | 09/15/2010 |
| Observational study and meta-analysis of gene-disease association. (HuGE Navigator) | Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight.
Andersson EA, Pilgaard K, Pisinger C, Harder MN, Grarup N, Faerch K, Poulsen P, Witte DR, Jørgensen T, Vaag A, Hansen T, Pedersen O. | 06/30/2010 |
| Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) | Use of multiple metabolic and genetic markers to improve the prediction of type 2 diabetes: the EPIC-Potsdam Study.
Schulze MB, Weikert C, Pischon T, Bergmann MM, Al-Hasani H, Schleicher E, Fritsche A, Häring HU, Boeing H, Joost HG., Free PMC Article | 09/20/2009 |
| Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator) | Underlying genetic models of inheritance in established type 2 diabetes associations.
Salanti G, Southam L, Altshuler D, Ardlie K, Barroso I, Boehnke M, Cornelis MC, Frayling TM, Grallert H, Grarup N, Groop L, Hansen T, Hattersley AT, Hu FB, Hveem K, Illig T, Kuusisto J, Laakso M, Langenberg C, Lyssenko V, McCarthy MI, Morris A, Morris AD, Palmer CN, Payne F, Platou CG, Scott LJ, Voight BF, Wareham NJ, Zeggini E, Ioannidis JP., Free PMC Article | 08/12/2009 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesObesity and diabetes genetic variants associated with gestational weight gain.
Stuebe AM, Lyon H, Herring AH, Ghosh J, Wise A, North KE, Siega-Riz AM. Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population.
Han X, Luo Y, Ren Q, Zhang X, Wang F, Sun X, Zhou X, Ji L. Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
Wen J, Rönn T, Olsson A, Yang Z, Lu B, Du Y, Groop L, Ling C, Hu R. Common type 2 diabetes risk gene variants associate with gestational diabetes.
Lauenborg J, Grarup N, Damm P, Borch-Johnsen K, Jørgensen T, Pedersen O, Hansen T. Chromosome 17q12 variants contribute to risk of early-onset prostate cancer.
Levin AM, Machiela MJ, Zuhlke KA, Ray AM, Cooney KA, Douglas JA. | 09/10/2008 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | See all PubMed (2) articlesAssociation between insulin secretion, insulin sensitivity and type 2 diabetes susceptibility variants identified in genome-wide association studies.
Ruchat SM, Elks CE, Loos RJ, Vohl MC, Weisnagel SJ, Rankinen T, Bouchard C, Pérusse L. Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
Lango H, UK Type 2 Diabetes Genetics Consortium, Palmer CN, Morris AD, Zeggini E, Hattersley AT, McCarthy MI, Frayling TM, Weedon MN. | 07/13/2008 |
| Interaction between SPBP and TopBP1 was found to be mediated by the ePHD domain of SPBP and the BRCT6 domain of TopBP1. | The ePHD protein SPBP interacts with TopBP1 and together they co-operate to stimulate Ets1-mediated transcription.
Sjøttem E, Rekdal C, Svineng G, Johnsen SS, Klenow H, Uglehus RD, Johansen T., Free PMC Article | 01/21/2010 |
| SPBP behaves as a repressor of activated ERalpha | SPBP is a phosphoserine-specific repressor of estrogen receptor alpha.
Gburcik V, Bot N, Maggiolini M, Picard D., Free PMC Article | 01/21/2010 |