Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0022-3476(66)80095-1 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Different faces of autism: Patients with mutations in and genes.
Acta Neurobiol Exp (Wars)
January 2025
Laboratory of Emotions Neurobiology, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.
Autism spectrum disorder (ASD) is among the most common neurodevelopmental conditions in humans. While public awareness of the challenges faced by individuals with autism is steadily increasing, the underlying causes of abnormalities observed in ASD remains incompletely understood. The autism spectrum is notably broad, with symptoms that can manifest in various forms and degrees of severity.
View Article and Find Full Text PDFSciatic nerve analysis in thyroid hormone transporter Mct8 and Oatp1c1 knockout mice.
Eur Thyroid J
January 2025
H Heuer, Department of Endocrinology, Diabetes and Metabolism, University of Duisburg-Essen, Essen, Germany.
Objective: Mutations in the thyroid hormone (TH) transporter monocarboxylate transporter 8 (MCT8) cause Allan-Herndon-Dudley syndrome (AHDS), a severe form of psychomotor retardation with muscle hypoplasia and spastic paraplegia as key symptoms. These abnormalities have been attributed to an impaired TH transport across brain barriers and into neural cells thereby affecting brain development and function. Likewise, Mct8/Oatp1c1 (organic anion transporting polypeptide 1c1) double knockout (M/Odko) mice, a well-established murine AHDS model, display a strongly reduced TH passage into the brain as well as locomotor abnormalities.
View Article and Find Full Text PDFAn unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review.
Tunis Med
January 2025
University of Sfax, Military University Hospital of Sfax, Cardiology Department, Sfax, Tunisia.
Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.
View Article and Find Full Text PDFJaffe-Campanacci Syndrome: A Case Report and Review of the Literature.
Cureus
December 2024
Orthopedics and Traumatology, Ondokuz Mayis University, Samsun, TUR.
Jaffe-Campanacci syndrome (JCS) is a rare disorder characterized by multiple non-ossifying fibromas (NOFs), café-au-lait spots, and other features such as mental retardation and cryptorchidism. It is often clinically and genetically similar to neurofibromatosis type 1 (NF1), complicating diagnosis. This report presents a 17-year-old male with right knee pain, café-au-lait spots, and axillary freckling.
View Article and Find Full Text PDFDeep learning-based assessment of missense variants in the gene presented with bilateral congenital cataract.
BMJ Open Ophthalmol
January 2025
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China
Objective: We compared the protein structure and pathogenicity of clinically relevant variants of the gene with AlphaFold2 (AF2), Alpha Missense (AM), and ThermoMPNN for the first time.
Methods And Analysis: The sequences of clinically relevant Cog4 missense variants (one novel identified p.Y714F and three pre-existing p.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!