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Select item 81302831.

Cultures and cures: neurodiversity and brain organoids

Andrew J. Barnhart, Kris Dierickx

BMC Med Ethics. 2021; 22: 61. Published online 2021 May 17. doi: 10.1186/s12910-021-00627-1

PMCID:: PMC8130283

Abstract Article PDF–813K

Select item 108953802.

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality

Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo

Mol Genet Genomic Med. 2024 Feb; 12(2): e2408. Published online 2024 Feb 26. doi: 10.1002/mgg3.2408

PMCID:: PMC10895380

Abstract Article PDF–1.1M

Select item 108939623.

A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks

Deepti Domingo, Urwah Nawaz, Mark Corbett, Josh L Espinoza, Katrina Tatton-Brown, David Coman, Miles F Wilkinson, Jozef Gecz, Lachlan A Jolly

Hum Mol Genet. 2020 Aug 1; 29(15): 2568–2578. Published online 2020 Jul 16. doi: 10.1093/hmg/ddaa151

PMCID:: PMC10893962

Abstract Article PDF–1.1M

Select item 108938994.

Deficiency of Acetyltransferase nat10 in Zebrafish Causes Developmental Defects in the Visual Function

Hou-Zhi Yang, Donghai Zhuo, Zongyu Huang, Gan Luo, Shuang Liang, Yonggang Fan, Ying Zhao, Xinxin Lv, Caizhen Qiu, Lingzhu Zhang, Yang Liu, Tianwei Sun, Xu Chen, Shan-Shan Li, Xin Jin

Invest Ophthalmol Vis Sci. 2024 Feb; 65(2): 31. Published online 2024 Feb 21. doi: 10.1167/iovs.65.2.31

PMCID:: PMC10893899

Abstract Article PDF–7.0M

Select item 108911655.

Causal influences of neuropsychiatric disorders on Alzheimer’s disease

Ancha Baranova, Qian Zhao, Hongbao Cao, Vikas Chandhoke, Fuquan Zhang

Transl Psychiatry. 2024; 14: 114. Published online 2024 Feb 23. doi: 10.1038/s41398-024-02822-1

PMCID:: PMC10891165

Abstract Article PDF–529K

Select item 108909806.

Identification of novel microRNAs in the embryonic mouse brain using deep sequencing

Susanna Szakats, Alice McAtamney, Megan J. Wilson

Mol Cell Biochem. 2024; 479(2): 297–311. Published online 2023 Apr 15. doi: 10.1007/s11010-023-04730-2

PMCID:: PMC10890980

Abstract Article PDF–5.8M

Select item 108897817.

Autism Spectrum Disorder: Brain Areas Involved, Neurobiological Mechanisms, Diagnoses and Therapies

Jacopo Lamanna, Jacopo Meldolesi

Int J Mol Sci. 2024 Feb; 25(4): 2423. Published online 2024 Feb 19. doi: 10.3390/ijms25042423

PMCID:: PMC10889781

Abstract Article PDF–10M

Select item 108896858.

A Survey on the Expression of the Ubiquitin Proteasome System Components HECT- and RBR-E3 Ubiquitin Ligases and E2 Ubiquitin-Conjugating and E1 Ubiquitin-Activating Enzymes during Human Brain Development

Stefano Magnati, Eugenio Alladio, Enrico Bracco

Int J Mol Sci. 2024 Feb; 25(4): 2361. Published online 2024 Feb 17. doi: 10.3390/ijms25042361

PMCID:: PMC10889685

Abstract Article PDF–4.5M

Select item 108893999.

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders

Emily Baum, Wenming Huang, Catherine Vincent-Delorme, Perrine Brunelle, Adam Antebi, Hormos Salimi Dafsari

Int J Mol Sci. 2024 Feb; 25(4): 2053. Published online 2024 Feb 8. doi: 10.3390/ijms25042053

PMCID:: PMC10889399

Abstract Article PDF–4.0M

Select item 1088920310.

Alterations in KIDINS220/ARMS Expression Impact Sensory Processing and Social Behavior in Adult Mice

Martina Albini, Amanda Almacellas-Barbanoj, Alicja Krawczun-Rygmaczewska, Lorenzo Ciano, Fabio Benfenati, Caterina Michetti, Fabrizia Cesca

Int J Mol Sci. 2024 Feb; 25(4): 2334. Published online 2024 Feb 16. doi: 10.3390/ijms25042334

PMCID:: PMC10889203

Abstract Article PDF–1.8M

Select item 1088895311.

The Pivotal Role of Oxytocin’s Mechanism of Thermoregulation in Prader-Willi Syndrome, Schaaf-Yang Syndrome, and Autism Spectrum Disorder

Claudia Camerino

Int J Mol Sci. 2024 Feb; 25(4): 2066. Published online 2024 Feb 8. doi: 10.3390/ijms25042066

PMCID:: PMC10888953

Abstract Article PDF–751K

Select item 1088816612.

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori dos Santos, Társis Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes

Genes (Basel) 2024 Feb; 15(2): 211. Published online 2024 Feb 6. doi: 10.3390/genes15020211

PMCID:: PMC10888166

Abstract Article PDF–623K

Select item 1088801013.

Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome

Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Pawel Karpinski, Joanna Bladowska, Rafal Ploski, Robert Smigiel

Genes (Basel) 2024 Feb; 15(2): 256. Published online 2024 Feb 19. doi: 10.3390/genes15020256

PMCID:: PMC10888010

Abstract Article PDF–11M

Select item 1088774414.

Landscape of Constitutional SOX4 Variation in Human Disorders

Mina Grippa, Claudio Graziano

Genes (Basel) 2024 Feb; 15(2): 158. Published online 2024 Jan 25. doi: 10.3390/genes15020158

PMCID:: PMC10887744

Abstract Article PDF–527K

Select item 1088676415.

Trans Species RNA Activity: Sperm RNA of the Father of an Autistic Child Programs Glial Cells and Behavioral Disorders in Mice

Zeynep Yilmaz Sukranli, Keziban Korkmaz Bayram, Ecmel Mehmetbeyoglu, Zuleyha Doganyigit, Feyzullah Beyaz, Elif Funda Sener, Serpil Taheri, Yusuf Ozkul, Minoo Rassoulzadegan

Biomolecules. 2024 Feb; 14(2): 201. Published online 2024 Feb 7. doi: 10.3390/biom14020201

PMCID:: PMC10886764

Abstract Article PDF–11M

Select item 1088561516.

The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome

Elisabeth M. Dykens, Elizabeth Roof, Hailee Hunt-Hawkins

Orphanet J Rare Dis. 2024; 19: 83. Published online 2024 Feb 23. doi: 10.1186/s13023-024-03045-9

PMCID:: PMC10885615

Abstract Article PDF–1.4M

Select item 1088403017.

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava, Delia R. Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L. Regan, Christian D. Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E. J. Prijoles, Raymond J. Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T. Gordon, Kaan Boztug, Katta M. Girisha, Anju Shukla, Stephanie L. Bielas, Ashleigh E. Schaffer

Nat Commun. 2024; 15: 1640. Published online 2024 Feb 22. doi: 10.1038/s41467-024-45948-y

PMCID:: PMC10884030

Abstract Article PDF–7.0M

Select item 1088189818.

Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder

Ashraf Yahia, Danyang Li, Sanna Lejerkrans, Shyam Rajagopalan, Nelli Kalnak, Kristiina Tammimies

Hum Genet. 2024; 143(2): 169–183. Published online 2024 Feb 1. doi: 10.1007/s00439-023-02636-z

PMCID:: PMC10881898

Abstract Article PDF–2.5M

Select item 1088020019.

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D’Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M. Neumeyer, Florian S. Eichler

Orphanet J Rare Dis. 2024; 19: 79. Published online 2024 Feb 20. doi: 10.1186/s13023-024-03083-3

PMCID:: PMC10880200

Abstract Article PDF–1.0M

Select item 1087903620.

Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk

Takumi Nakamura, Junko Ueda, Shota Mizuno, Kurara Honda, An-a Kazuno, Hirona Yamamoto, Tomonori Hara, Atsushi Takata

Cell Genom. 2024 Feb 14; 4(2): 100488. Published online 2024 Jan 26. doi: 10.1016/j.xgen.2024.100488

PMCID:: PMC10879036

Abstract Article PDF–4.3M

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