Results 41 to 50 of about 18,861 (235)

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Broad autism phenotype: theory of mind and empathy skills in unaffected siblings of children with autism spectrum disorder

Psychiatry and Clinical Psychopharmacology, 2018
OBJECTIVE: Difficulties in social communication is core syptoms of autism spectrum disorder (ASD), and it is often present in first-degree relatives in varying degrees.
Murat Eyuboglu, Burak Baykara, Damla Eyuboglu   +2 more
doaj   +1 more source

Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder. [PDF]

PLoS ONE, 2015
Autism spectrum disorder comprises several neurodevelopmental conditions presenting symptoms in social communication and restricted, repetitive behaviors.
Daniela Brunner, Patricia Kabitzke, Dansha He, Kimberly Cox, Lucinda Thiede, Taleen Hanania, Emily Sabath, Vadim Alexandrov, Michael Saxe, Elior Peles, Alea Mills, Will Spooren, Anirvan Ghosh, Pamela Feliciano, Marta Benedetti, Alice Luo Clayton, Barbara Biemans   +16 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Psychotic Spectrum Symptoms in Adults with Autism Spectrum Disorder and in Their First-Degree Relatives

Brain Sciences
Objectives: Autism Spectrum Disorder (ASD) and psychotic disorders have long been considered separate diagnostic entities, yet increasing evidence highlights shared neurodevelopmental mechanisms and symptom overlap.
Benedetta Nardi, Francesca Parri, Stefano Pini, Federico Giovannoni, Cristiana Pronestì, Silvia Tarantino, Gabriele Massimetti, Ivan Mirko Cremone, Liliana Dell’Osso, Barbara Carpita   +9 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Translational Psychiatry, 2022
CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and macrocephaly (IDDAM)
Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries   +34 more
doaj   +1 more source

The role of the broader autism phenotype in anxiety and depression in college-aged adults

Frontiers in Psychiatry, 2023
The current study examines the relationship between the presence of autistic traits and anxiety and mood disorders in young adults from different racial groups. A representative sample from a predominately white university (2,791 non-Hispanic White (NHW)
McKayla R. Kurtz, Rajesh K. Kana, Daphne L. Rivera, Sharlene D. Newman, Sharlene D. Newman, Sharlene D. Newman   +5 more
doaj   +1 more source