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Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi +10 more
wiley +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source

The diagnostic value of the circadian rhythm gene KLF10 in anxiety‐depressive disorders and its neuroimmune regulatory mechanisms

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the protective role and molecular mechanism of the circadian rhythm‐related gene KLF10, identified as a diagnostic biomarker and therapeutic target in anxiety‐depressive disorder. Model establishment and phenotypes: An anxiety‐depression model was successfully established by chronic restraint stress combined with ...
Anlan Liu +4 more
wiley +1 more source

Neurotransmitter‐Defined Degeneration Patterns in Sporadic and C9orf72‐Associated Amyotrophic Lateral Sclerosis: Predilection to GABAergic, Serotonergic, Opioid, Glutamatergic, Endocannabinoid, and Microglial Systems—Implications for Therapy Development

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl +10 more
wiley +1 more source

Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study

Annals of Neurology, EarlyView.
Objective To examine cortical thickness and white matter surface morphology in a large sample of individuals with Tourette syndrome (TS) and neurotypical controls across the lifespan, and to assess associations with symptom severity, comorbidities, and medication use.
Sahar Delavari +8 more
wiley +1 more source

Hyperostosis frontalis interna: Observed patterns, prevalence, and dementia associations in older adults

The Anatomical Record, EarlyView.
Abstract Hyperostosis frontalis interna (HFI) is a frequently underrecognized condition characterized by overgrowth of the frontal endocranium, most commonly observed in post‐menopausal women. Although its etiology remains unclear, hormonal influences and a possible relationship with neurocognitive changes have been proposed.
Danielle Felsberg +5 more
wiley +1 more source

Higher Complement C4 Gene Copy Number Constitutes a Shared Genetic Risk Factor for Giant Cell Arteritis and IgA Vasculitis

Arthritis &Rheumatology, EarlyView.
Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez +295 more
wiley +1 more source

Genetic and population analyses implicate thyroid‐related regulation of RNF144B in chondrocalcinosis

Arthritis &Rheumatology, Accepted Article.
Objectives Chondrocalcinosis, characterized by calcium crystal deposition within articular cartilage, affects 5–15% of the general population and has recently been identified as an osteoarthritis risk factor. However, Its biological pathways remain unclear.
Yahong Wu +15 more
wiley +1 more source

Characterization of Anticholinergic Medication Use and Its Associations With Everyday Memory Problems and Cognitive Decline in Autistic Adults With Higher Support Needs

Autism Research, EarlyView.
ABSTRACT Among older adults in the general population, medications with anticholinergic (AC) effects are associated with declines in cognitive functioning and with dementia and Alzheimer's disease. Autistic people have high rates of co‐occurring medical conditions and polypharmacy across the lifespan; thus, they may be at particularly high risk of ...
Goldie A. McQuaid, Nancy Raitano Lee, Gregory L. Wallace +2 more
wiley +1 more source

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