Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2004 2
2012 3
2013 3
2014 8
2015 7
2016 5
2017 9
2018 8
2019 7
2020 6
2021 8
2022 9
2023 12
2024 8
2025 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

87 results

Results by year

Filters applied: . Clear all
Page 1
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-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 Free article.
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 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: 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 …
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 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. PMID: 39257968 Free PMC article. 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 …
Is MED13L-related intellectual disability a recognizable syndrome?
Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR. Tørring PM, et al. Eur J Med Genet. 2019 Feb;62(2):129-136. doi: 10.1016/j.ejmg.2018.06.014. Epub 2018 Jun 27. Eur J Med Genet. 2019. PMID: 29959045
INTRODUCTION: MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the literature for phenoty …
INTRODUCTION: MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, an …
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. Adegbola A, et al. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758992 Free PMC article.
Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). ...We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with MED13L variants. A prominent feature of the MED13L n …
Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). ...We thereby define a novel …
Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.
Yi Z, Zhang Y, Song Z, Pan H, Yang C, Li F, Xue J, Qu Z. Yi Z, et al. Ital J Pediatr. 2020 Jul 9;46(1):95. doi: 10.1186/s13052-020-00847-y. Ital J Pediatr. 2020. PMID: 32646507 Free PMC article. Review.
Both the MED13L haploinsufficiency mutation and missense mutation were reported to be causative. ...Our case further demonstrates that Pro869Ser is a hotspot mutation of the MED13L gene....
Both the MED13L haploinsufficiency mutation and missense mutation were reported to be causative. ...Our case further demonstrates tha …
87 results