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MED13L Syndrome.
Campbell AN, Bain J, Doyle SJ. Campbell AN, et al. 2025 Apr 10. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2025 Apr 10. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 40228085 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: MED13L syndrome is characterized by mild-to-profound developmental delay, intellectual disability, and hypotonia. ...Other reported features include seizures and/or hearing impairment. DIAGNOSIS/TESTING: The diagnosis of MED13L syndrome is …
CLINICAL CHARACTERISTICS: MED13L syndrome is characterized by mild-to-profound developmental delay, intellectual disability, and hypo …
Two novel pathogenic variants in MED13L: one familial and one isolated case.
Carvalho LML, da Costa SS, Campagnari F, Kaufman A, Bertola DR, da Silva IT, Krepischi ACV, Koiffmann CP, Rosenberg C. Carvalho LML, et al. J Intellect Disabil Res. 2021 Dec;65(12):1049-1057. doi: 10.1111/jir.12891. Epub 2021 Oct 28. J Intellect Disabil Res. 2021. PMID: 34713510 Review.
BACKGROUND: Genetic variants involving the MED13L gene can lead to an autosomal dominant syndrome characterised by intellectual disability/developmental delay and facial dysmorphism. ...Further, we performed a literature review about clinical and molecular aspects of ME …
BACKGROUND: Genetic variants involving the MED13L gene can lead to an autosomal dominant syndrome characterised by intellectual disab …
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. Zhang N, et al. Theranostics. 2020 Jul 23;10(20):9378-9394. doi: 10.7150/thno.48247. eCollection 2020. Theranostics. 2020. PMID: 32802198 Free PMC article.
Clinical implications of miR-4497, MED13L and PRKCA in radiosensitivity were evaluated in NSCLC patients treated with concurrent chemoradiotherapy or radiotherapy alone. Results: We found that radiation can trigger disassemble of Mediator complex via silencing of MED13L …
Clinical implications of miR-4497, MED13L and PRKCA in radiosensitivity were evaluated in NSCLC patients treated with concurrent chem …
MED13L-related intellectual disability due to paternal germinal mosaicism.
Bessenyei B, Balogh I, Mokánszki A, Ujfalusi A, Pfundt R, Szakszon K. Bessenyei B, et al. Cold Spring Harb Mol Case Stud. 2022 Jan 10;8(1):a006124. doi: 10.1101/mcs.a006124. Print 2022 Jan. Cold Spring Harb Mol Case Stud. 2022. PMID: 34654706 Free PMC article.
The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and distinctive facial features with or without cardiac defects; MIM # 616789) is one of the most common forms of syndromic intellectual disability with about a hundred cases reported so far. …
The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and distinctive facial features with or without car …
MED13L and its disease-associated variants influence the dendritic development of cerebral cortical neurons in the mammalian brain.
Hamada N, Iwamoto I, Nagata KI. Hamada N, et al. J Neurochem. 2023 May;165(3):334-347. doi: 10.1111/jnc.15783. Epub 2023 Feb 28. J Neurochem. 2023. PMID: 36798993
We investigated the impact of five disease-associated MED13L variants on the subcellular localization and biochemical stability of MED13L protein in vitro and in vivo. ...Our study also suggests that disease-associated MED13L variants may directly cause morph …
We investigated the impact of five disease-associated MED13L variants on the subcellular localization and biochemical stability of …
MED13L-related disorder characterized by severe motor speech impairment.
Mitchel MW, Turner S, Walsh LK, Torene RI, Myers SM, Taylor CM. Mitchel MW, et al. Res Sq [Preprint]. 2024 Aug 28:rs.3.rs-4790993. doi: 10.21203/rs.3.rs-4790993/v1. Res Sq. 2024. Update in: J Neurodev Disord. 2025 Sep 24;17(1):56. doi: 10.1186/s11689-025-09645-1. PMID: 39257968 Free PMC article. Updated. Preprint.
BACKGROUND: MED13L-related disorder is associated with intellectual disability, motor delay, and speech deficits. ...Notable medical features included hypotonia (83%), vision problems (72%), recurrent otitis media (58%), gastrointestinal problems (57%), and seizures (31%). …
BACKGROUND: MED13L-related disorder is associated with intellectual disability, motor delay, and speech deficits. ...Notable medical …
The MED13L Foundation strategic research plan: a roadmap to the future.
Heilmann R, Pfalzer A, Bichell TJ, Terala A, Campbell A, Taatjes D, Ghoumid J, Grueter C, Bain J, Strich R, Dias V, Sokorai K, Seaver N, Sexton K, Boychuck K. Heilmann R, et al. Ther Adv Rare Dis. 2024 Nov 28;5:26330040241290252. doi: 10.1177/26330040241290252. eCollection 2024 Jan-Dec. Ther Adv Rare Dis. 2024. PMID: 39619418 Free PMC article.
The MED13L Foundation SRP is an objective evaluation of MED13L literature including clinical and basic science knowledge interwoven with an assessment of preclinical trial readiness tools necessary for achieving therapeutic interventions. ...The MED13L Founda …
The MED13L Foundation SRP is an objective evaluation of MED13L literature including clinical and basic science knowledge inter …
MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes.
Smol T, Frenois F, Billotte M, Caumes R, Menke LA, Nassar-Sheikh Rashid A, Thuillier C, Monté D, Petit F, Verger A, Ghoumid J. Smol T, et al. HGG Adv. 2025 Jul 10;6(3):100467. doi: 10.1016/j.xhgg.2025.100467. Epub 2025 Jun 11. HGG Adv. 2025. PMID: 40500968 Free PMC article.
Heterozygous pathogenic variants in the Mediator complex subunit 13-like gene located in the locus 12q21.21 (MED13L) are associated with intellectual disability, developmental delay, and distinctive facial features. ...In this study, we investigated five pathogenic missens …
Heterozygous pathogenic variants in the Mediator complex subunit 13-like gene located in the locus 12q21.21 (MED13L) are associated w …
Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort.
Qin Y, Havulinna AS, Liu Y, Jousilahti P, Ritchie SC, Tokolyi A, Sanders JG, Valsta L, Brożyńska M, Zhu Q, Tripathi A, Vázquez-Baeza Y, Loomba R, Cheng S, Jain M, Niiranen T, Lahti L, Knight R, Salomaa V, Inouye M, Méric G. Qin Y, et al. Nat Genet. 2022 Feb;54(2):134-142. doi: 10.1038/s41588-021-00991-z. Epub 2022 Feb 3. Nat Genet. 2022. PMID: 35115689 Free PMC article.
Enterococcus faecalis levels associated with variants in the MED13L locus, which has been linked to colorectal cancer. Mendelian randomization analysis indicated a potential causal effect of Morganella on major depressive disorder, consistent with observational incident di …
Enterococcus faecalis levels associated with variants in the MED13L locus, which has been linked to colorectal cancer. Mendelian rand …
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. Smol T, et al. Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6. Neurogenetics. 2018. PMID: 29511999
Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. ...This study ascertains missense var …
Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previ …
107 results