PMC Articles for MedGen (Select 1684743) - PMC

Select item 113471571.

TRMT10A dysfunction perturbs codon translation of initiator methionine and glutamine and impairs brain functions in mice

Roland Tresky, Yuta Miyamoto, Yu Nagayoshi, Yasushi Yabuki, Kimi Araki, Yukie Takahashi, Yoshihiro Komohara, Huicong Ge, Kayo Nishiguchi, Takaichi Fukuda, Hitomi Kaneko, Nobuko Maeda, Jin Matsuura, Shintaro Iwasaki, Kourin Sakakida, Norifumi Shioda, Fan-Yan Wei, Kazuhito Tomizawa, Takeshi Chujo

Nucleic Acids Res. 2024 Aug 27; 52(15): 9230–9246. Published online 2024 Jul 2. doi: 10.1093/nar/gkae520

PMCID:: PMC11347157

Abstract Article PDF–2.8M

Select item 110956322.

Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability

Florence Authier, Nina Ondruskova, Andrew T. Ferenbach, Alison D. McNeilly, Daan M. F. van Aalten

Dis Model Mech. 2024 Apr 1; 17(4): dmm050671. Published online 2024 Apr 25. doi: 10.1242/dmm.050671

PMCID:: PMC11095632

Abstract Article

Select item 110681063.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan

Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010

PMCID:: PMC11068106

Abstract Article PDF–1.0M

Select item 110325874.

A novel variant in NSUN2 causes intellectual disability in a Chinese family

Qi Yang, Qiang Zhang, Zailong Qin, Shang Yi, Jingsi Luo

BMC Med Genomics. 2024; 17: 95. Published online 2024 Apr 20. doi: 10.1186/s12920-024-01883-x

PMCID:: PMC11032587

Abstract Article PDF–990K

Select item 102484065.

A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn–Sproul–Jackson syndrome

Ga Hye Kim, Jaewon Kim, Jaewoong Lee, Dae-Hyun Jang

Front Pediatr. 2023; 11: 1165638. Published online 2023 May 25. doi: 10.3389/fped.2023.1165638

PMCID:: PMC10248406

Abstract Article PDF–3.0M

Select item 75365736.

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

Francesca Cristofoli, Tonya Moss, Hannah W. Moore, Koen Devriendt, Heather Flanagan-Steet, Melanie May, Julie Jones, Filip Roelens, Carmen Fons, Anna Fernandez, Loreto Martorell, Angelo Selicorni, Silvia Maitz, Giuseppina Vitiello, Gerd Van der Hoeven, Steven A. Skinner, Mathieu Bollen, Joris R. Vermeesch, Richard Steet, Hilde Van Esch

Am J Hum Genet. 2020 Oct 1; 107(4): 753–762. Published online 2020 Sep 9. doi: 10.1016/j.ajhg.2020.08.015

PMCID:: PMC7536573

Abstract Article PDF–2.1M

Select item 46134697.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julian A Martinez-Agosto, Natalia Gomez-Ospina, Natalie Gallant, Jonathan A Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka-Kowalnik, Michelle Fox, Joshua L Deignan, Eric Vilain, Emily Hendricks, Margaret Horton Harr, Sarah E Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H Zackai, Ian Krantz, A Micheil Innes, Stanley F Nelson, Wayne W Grody, Fabiola Quintero-Rivera

Eur J Hum Genet. 2015 Oct; 23(11): 1473–1481. Published online 2015 May 6. doi: 10.1038/ejhg.2015.71

PMCID:: PMC4613469

Abstract Article PDF–2.3M

Select item 43152908.

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Guntram Borck, Friederike Hög, Maria Lisa Dentici, Perciliz L. Tan, Nadine Sowada, Ana Medeira, Lucie Gueneau, Holger Thiele, Maria Kousi, Francesca Lepri, Larissa Wenzeck, Ian Blumenthal, Antonio Radicioni, Tito Livio Schwarzenberg, Barbara Mandriani, Rita Fischetto, Deborah J. Morris-Rosendahl, Janine Altmüller, Alexandre Reymond, Peter Nürnberg, Giuseppe Merla, Bruno Dallapiccola, Nicholas Katsanis, Patrick Cramer, Christian Kubisch

Genome Res. 2015 Feb; 25(2): 155–166. doi: 10.1101/gr.176925.114

Correction in:: Genome Res. 2015 Apr; 25(4): 609.

PMCID:: PMC4315290

Abstract Article PDF–1.1M

Select item 42979109.

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

A Gulhan Ercan-Sencicek, Samira Jambi, Daniel Franjic, Sayoko Nishimura, Mingfeng Li, Paul El-Fishawy, Thomas M Morgan, Stephan J Sanders, Kaya Bilguvar, Mohnish Suri, Michele H Johnson, Abha R Gupta, Zafer Yuksel, Shrikant Mane, Elena Grigorenko, Marina Picciotto, Arthur S Alberts, Murat Gunel, Nenad Šestan, Matthew W State

Eur J Hum Genet. 2015 Feb; 23(2): 165–172. Published online 2014 Apr 30. doi: 10.1038/ejhg.2014.82

PMCID:: PMC4297910

Abstract Article PDF–1.5M

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