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Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.
Hum Mol Genet
January 2025
Department of Human Genetics, McGill University, 3666 McTavish Street, Montreal, QC H3A 1Y2, Canada.
Many genes in the human genome encode proteins that are dosage sensitive, meaning they require protein levels within a narrow range to properly execute function. To investigate if clinically relevant variation in protein levels impacts the same downstream pathways in human disease, we generated cell models of two SETBP1 syndromes: Schinzel-Giedion Syndrome (SGS) and SETBP1 haploinsufficiency disease (SHD), where SGS is caused by too much protein, and SHD is caused by not enough SETBP1. Using patient and sex-matched healthy first-degree relatives from both SGS and SHD SETBP1 cases, we assessed how SETBP1 protein dosage affects downstream pathways in human forebrain progenitor cells.
View Article and Find Full Text PDFAre neurasthenia and depression the same disease entity? An electroencephalography study.
BMC Psychiatry
January 2025
Department of Neurology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; The First Affiliated Hospital, Southern University of Science and Technology), Shenzhen, Guangdong, China.
Background: The neurasthenia-depression controversy has lasted for several decades. It is challenging to solve the argument by symptoms alone for syndrome-based disease classification. Our aim was to identify objective electroencephalography (EEG) measures that can differentiate neurasthenia from major depressive disorder (MDD).
View Article and Find Full Text PDFCurrent approaches in CRISPR-Cas systems for hereditary diseases.
Prog Mol Biol Transl Sci
January 2025
School of Health Sciences & Technology, UPES, Dehradun, Uttarakhand, India. Electronic address:
CRISPR-Cas technologies have drastically revolutionized genetic engineering and also dramatically changed the potential for treating inherited disorders. The potential to correct genetic mutations responsible for numerous hereditary disorders from single-gene disorders to complex polygenic diseases through precise DNA editing is feasible. The tactic now employed in CRISPR-Cas systems for treating inherited disorders is the usage of particular guide RNAs to target and edit disease-causing mutations in the patient's genome.
View Article and Find Full Text PDFTorticollis in a child with Grisel syndrome: A case report and review of the literature.
Int J Surg Case Rep
January 2025
Department of Orthopedics and Trauma Surgery, Tribhuwan University, Institute of Medicine, Kathmandu, Nepal.
Introduction And Importance: Grisel syndrome (GS) is a rare but potentially lethal condition characterized by non-traumatic atlantoaxial subluxation primarily affecting pediatric population following inflammatory condition of head and neck. Early diagnosis and prompt treatment is crucial for better management of symptoms and better outcomes.
Case Presentation: 7-years-old child present with torticollis, sudden onset progressive neck pain, restricted range of motion and bilateral lymphadenopathy after upper respiratory tract infection (URTI).
Breast Cancer Specificities of Patients With Anti-Ri Paraneoplastic Neurologic Syndromes.
Neurol Neuroimmunol Neuroinflamm
March 2025
MeLis Institute, SynatAc Team, Inserm U1314/ UMR CNRS5284, France.
Background And Objectives: Breast cancers (BCs) of patients with paraneoplastic neurologic syndromes and anti-Yo antibodies (Yo-PNS) overexpress human epidermal growth factor receptor 2 (HER2) and display genetic alterations and overexpression of the Yo-onconeural antigens. They are infiltrated by an unusual proportion of B cells. We investigated whether these features were also observed in patients with PNS and anti-Ri antibodies (Ri-PNS).
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