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

Edit custom filters

Results by year

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

Year Number of Results
1996 1
1997 1
1998 1
1999 1
2000 1
2004 2
2005 1
2007 1
2008 2
2009 1
2010 3
2011 7
2012 5
2013 16
2014 16
2015 13
2016 10
2017 11
2018 12
2019 6
2020 17
2021 16
2022 15
2023 11
2024 22
2025 18
2026 5

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

196 results

Results by year

Filters applied: . Clear all
Page 1
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.
Bouassida M, Egloff M, Levy J, Chatron N, Bernardini L, Le Guyader G, Tabet AC, Schluth-Bolard C, Brancati F, Giuffrida MG, Dard R, Clorennec J, Coursimault J, Vialard F, Hervé B. Bouassida M, et al. Eur J Hum Genet. 2023 Aug;31(8):895-904. doi: 10.1038/s41431-023-01379-9. Epub 2023 May 15. Eur J Hum Genet. 2023. PMID: 37188826 Free PMC article. Review.
Microduplications involving the MYT1L gene have mostly been described in series of patients with isolated schizophrenia. ...Our comprehensive review and expansion of the phenotypic spectrum associated with 2p25.3 microduplications involving MYT1L should help clinici …
Microduplications involving the MYT1L gene have mostly been described in series of patients with isolated schizophrenia. ...Our compr …
MYT1L deficiency impairs excitatory neuron trajectory during cortical development.
Yen A, Sarafinovska S, Chen X, Skinner DD, Leti F, Crosby M, Hoisington-Lopez J, Wu Y, Chen J, Li ZA, Noguchi KK, Mitra RD, Dougherty JD. Yen A, et al. Nat Commun. 2024 Nov 27;15(1):10308. doi: 10.1038/s41467-024-54371-2. Nat Commun. 2024. PMID: 39604385 Free PMC article.
MYT1L is used as a pro-neural factor in fibroblast-to-neuron transdifferentiation and is hypothesized to influence neuronal specification and maturation, but it is not clear which neuron types are most impacted by MYT1L loss. ...These findings illuminate MYT1L …
MYT1L is used as a pro-neural factor in fibroblast-to-neuron transdifferentiation and is hypothesized to influence neuronal specifica …
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Coursimault J, et al. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
We aimed to further characterize this disorder at both the clinical and molecular levels by gathering a large series of patients with MYT1L-associated neurodevelopmental disorder. We collected genetic information on 40 unreported patients with likely pathogenic/pathogenic …
We aimed to further characterize this disorder at both the clinical and molecular levels by gathering a large series of patients with MYT …
MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism.
Mansfield P, Constantino JN, Baldridge D. Mansfield P, et al. Am J Med Genet B Neuropsychiatr Genet. 2020 Jun;183(4):227-233. doi: 10.1002/ajmg.b.32781. Epub 2020 Apr 8. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 32267091 Free PMC article.
Variations in MYT1L, a gene encoding a transcription factor expressed in the brain, have been associated with autism, intellectual disability, and schizophrenia. ...Future research on the specific effects of contrasting mutations in MYT1L may provide insight into th …
Variations in MYT1L, a gene encoding a transcription factor expressed in the brain, have been associated with autism, intellectual di …
MYT1L in the making: emerging insights on functions of a neurodevelopmental disorder gene.
Chen J, Yen A, Florian CP, Dougherty JD. Chen J, et al. Transl Psychiatry. 2022 Jul 22;12(1):292. doi: 10.1038/s41398-022-02058-x. Transl Psychiatry. 2022. PMID: 35869058 Free PMC article. Review.
Large scale human genetic studies have shown that loss of function (LoF) mutations in MYT1L are implicated in neurodevelopmental disorders (NDDs). Here, we provide an overview of the growing number of published MYT1L patient cases, and summarize prior studies in cel …
Large scale human genetic studies have shown that loss of function (LoF) mutations in MYT1L are implicated in neurodevelopmental diso …
Myt1l haploinsufficiency leads to obesity and multifaceted behavioral alterations in mice.
Wöhr M, Fong WM, Janas JA, Mall M, Thome C, Vangipuram M, Meng L, Südhof TC, Wernig M. Wöhr M, et al. Mol Autism. 2022 May 10;13(1):19. doi: 10.1186/s13229-022-00497-3. Mol Autism. 2022. PMID: 35538503 Free PMC article.
In adulthood, Myt1l heterozygous mice displayed hyperactivity due to impaired habituation learning. ...LIMITATIONS: In future studies, additional phenotypes might be identified and a detailed characterization of direct reciprocal social interaction behavior might help to r …
In adulthood, Myt1l heterozygous mice displayed hyperactivity due to impaired habituation learning. ...LIMITATIONS: In future studies …
MYT1L is required for suppressing earlier neuronal development programs in the adult mouse brain.
Chen J, Fuhler NA, Noguchi KK, Dougherty JD. Chen J, et al. Genome Res. 2023 Apr;33(4):541-556. doi: 10.1101/gr.277413.122. Epub 2023 Apr 26. Genome Res. 2023. PMID: 37100461 Free PMC article.
To define potential mechanisms, we conducted Cleavage Under Targets & Release Using Nuclease (CUT&RUN) to map MYT1L binding targets and epigenetic changes following MYT1L loss in mouse developing cortex and adult prefrontal cortex (PFC). ...Overall, our find …
To define potential mechanisms, we conducted Cleavage Under Targets & Release Using Nuclease (CUT&RUN) to map MYT1L binding t …
MYT1L deficiency impairs excitatory neuron trajectory during cortical development.
Yen A, Chen X, Skinner DD, Leti F, Crosby M, Hoisington-Lopez J, Wu Y, Chen J, Mitra RD, Dougherty JD. Yen A, et al. bioRxiv [Preprint]. 2024 Mar 7:2024.03.06.583632. doi: 10.1101/2024.03.06.583632. bioRxiv. 2024. Update in: Nat Commun. 2024 Nov 27;15(1):10308. doi: 10.1038/s41467-024-54371-2. PMID: 38496654 Free PMC article. Updated. Preprint.
In addition, while MYT1L can both activate and repress gene expression, the repressive effects were most sensitive to haploinsufficiency, and thus more likely mediate MYT1L syndrome. These findings illuminate the intricate role of MYT1L in orchestrating gene …
In addition, while MYT1L can both activate and repress gene expression, the repressive effects were most sensitive to haploinsufficie …
A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review.
Carvalho LML, D'Angelo CS, Mustacchi Z, da Silva IT, Krepischi ACV, Koiffmann CP, Rosenberg C. Carvalho LML, et al. Obes Res Clin Pract. 2021 Mar-Apr;15(2):124-132. doi: 10.1016/j.orcp.2021.01.001. Epub 2021 Feb 20. Obes Res Clin Pract. 2021. PMID: 33622623 Review.
Additionally, we performed a literature review of patients carrying non-copy number MYT1L variants. RESULTS: A de novo genetic variant not previously reported in MYT1L (NM_015025.4:c.2990C>A) was identified in the proband and classified as pathogenic. ...Further, …
Additionally, we performed a literature review of patients carrying non-copy number MYT1L variants. RESULTS: A de novo genetic varian …
196 results