| Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome. | Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome.
Fauqueux J, Boussion S, Thuillier C, Meurisse E, Lacombe D, Willems M, Piton A, Ait-Yahya E, Ghoumid J, Smol T. | 10/25/2024 |
| Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome. | Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.
Siavrienė E, Petraitytė G, Mikštienė V, Maldžienė Ž, Sasnauskienė A, Žitkutė V, Ambrozaitytė L, Rančelis T, Utkus A, Kučinskas V, Preikšaitienė E., Free PMC Article | 08/3/2023 |
| MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity. | MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity.
Zhang N, Song Y, Xu Y, Liu J, Shen Y, Zhou L, Yu J, Yang M., Free PMC Article | 05/29/2021 |
| Study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition. | MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J. | 09/28/2019 |
| Our findings suggest that MED13L-related disorders are a possible differential diagnosis for syndromic PRS. | MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
Gordon CT, Chopra M, Oufadem M, Alibeu O, Bras M, Boddaert N, Bole-Feysot C, Nitschké P, Abadie V, Lyonnet S, Amiel J. | 06/23/2018 |
| MED13L truncating mutation and missense mutation were identified in two patients with facial resemblance to Kleefstra syndrome as a novel differential diagnosis. | Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A. | 12/9/2017 |
| A new syndrome caused by MED13L deleterious variants has been described, which shows similar clinical manifestations including intellectual disability, hypotonia, and other congenital anomalies. In two new cases, one missense variant and one nonsense mutation were found in the MED13L gene. | De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Caro-Llopis A, Rosello M, Orellana C, Oltra S, Monfort S, Mayo S, Martinez F. | 10/28/2017 |
| Two siblings exhibited an intragenic deletion involving exons 3-14, which led to an in-frame deletion in MED13L. The deletion was inherited from their carrier mother who possessed low frequency mosaicism. The older sister of the siblings showed craniosynostosis; this condition has never been reported in patients with MED13L haploinsufficiency syndrome | MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N. | 05/13/2017 |
| Heterozygous MED13L variants cause transposition of the great arterie. | Redefining the MED13L syndrome.
Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM., Free PMC Article | 06/28/2016 |
| Analysis of genomic data in connection with deep clinical evaluation of patients could elucidate genetic heterogeneity of the MED13L haploinsufficiency phenotype | Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M., Free PMC Article | 05/7/2016 |
| A meta-analysis of genome-wide association studies of blood pressure and hypertension in Chinese identified three new loci (CACNA1D, CYP21A2, and MED13L) and a newly discovered variant near SLC4A7. | Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
Lu X, Wang L, Lin X, Huang J, Charles Gu C, He M, Shen H, He J, Zhu J, Li H, Hixson JE, Wu T, Dai J, Lu L, Shen C, Chen S, He L, Mo Z, Hao Y, Mo X, Yang X, Li J, Cao J, Chen J, Fan Z, Li Y, Zhao L, Li H, Lu F, Yao C, Yu L, Xu L, Mu J, Wu X, Deng Y, Hu D, Zhang W, Ji X, Guo D, Guo Z, Zhou Z, Yang Z, Wang R, Yang J, Zhou X, Yan W, Sun N, Gao P, Gu D., Free PMC Article | 07/25/2015 |
| Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. | Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
Utami KH, Winata CL, Hillmer AM, Aksoy I, Long HT, Liany H, Chew EG, Mathavan S, Tay SK, Korzh V, Sarda P, Davila S, Cacheux V. | 06/27/2015 |
| Description of three patients with copy number changes affecting MED13L and delineation of a recognizable MED13L haploinsufficiency syndrome. | Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A., Free PMC Article | 05/3/2014 |
| We show that the Mediator complex subunit MED13L is required for Rb/E2F control of cell growth, the complete repression of cell cycle target genes, and cell cycle inhibition. | A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest.
Angus SP, Nevins JR., Free PMC Article | 01/26/2013 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| PROSIT240 shows significant homology to the nuclear receptor coactivator TRAP240, suggesting it to be a new component of the thyroid hormone receptor-associated protein (TRAP) complex. PROSIT240 is involved in early heart and brain development. | Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).
Muncke N, Jung C, Rüdiger H, Ulmer H, Roeth R, Hubert A, Goldmuntz E, Driscoll D, Goodship J, Schön K, Rappold G. | 01/21/2010 |
| Transcripts were most abundant in skeletal muscle. | cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2.
Musante L, Bartsch O, Ropers HH, Kalscheuer VM. | 01/21/2010 |