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Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Am J Med Genet A
December 2024
Division of Medical Genetics, Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Article Synopsis
- - The study evaluated the efficacy of telehealth in conducting physical examinations (PE) for individuals with undiagnosed and rare disorders, comparing virtual assessments to in-person examinations.
- - Results showed high agreement in general appearance and craniofacial features between telehealth and in-person evaluations, with varying levels of agreement for neurological examination components.
- - Participants reported satisfaction with the telehealth experience, indicating that telehealth is a viable alternative for conducting physical examinations in cases of undiagnosed diseases.
ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3.
BMC Med Genomics
November 2024
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Background: Rare variants in epigenes (a.k.a.
View Article and Find Full Text PDFPooled CRISPR screens with joint single-nucleus chromatin accessibility and transcriptome profiling.
Nat Biotechnol
November 2024
New York Genome Center, New York, NY, USA.
Article Synopsis
- - MultiPerturb-seq is a new CRISPR screening platform that combines single-nucleus chromatin accessibility, transcriptome analysis, and guide RNA capture to enhance the profiling of genetic information.
- - This high-throughput method utilizes advanced techniques like combinatorial indexing and droplet microfluidics to efficiently process and integrate multiple forms of data from single cells.
- - The research identified critical differentiation genes in a rare pediatric cancer, highlighting ZNHIT1 as a promising target for developing reprogramming therapies for cancer treatment.
Impaired axon initial segment structure and function in a model of developmental and epileptic encephalopathy.
Proc Natl Acad Sci U S A
October 2024
Department of Neurology, Center for Translational Research in Neurodevelopmental Disease, Columbia University Irving Medical Center, New York, NY 10032.
Developmental and epileptic encephalopathies (DEE) are rare but devastating and largely intractable childhood epilepsies. Genetic variants in , encoding a scaffolding protein important for the organization of the postsynaptic density of inhibitory synapses, are associated with DEE accompanied by complex neurological phenotypes. In a mouse model carrying a patient-derived variant associated with severe disease, we observed aggregation of postsynaptic proteins and loss of functional inhibitory synapses at the axon initial segment (AIS), altered axo-axonic synaptic inhibition, disrupted action potential generation, and complex seizure phenotypes consistent with clinical observations.
View Article and Find Full Text PDFRett Syndrome: The Emerging Landscape of Treatment Strategies.
CNS Drugs
November 2024
Vanderbilt University Medical Center, Nashville, TN, USA.
Article Synopsis
- - RTT is a neurodevelopmental disorder first described in 1966, with significant advancements in understanding and therapy starting with the identification of the MECP2 gene in 1999, which is crucial for diagnosing and understanding the condition.
- - The NIH funded a comprehensive RTT Natural History Study in 2003, collecting vital clinical data from a large RTT population that laid the groundwork for developing therapies and clinical trials.
- - Collaboration with the International Rett Syndrome Foundation has facilitated research initiatives, leading to findings on RTT characteristics, comorbidities, and the development of severity measures that are essential for future clinical applications.
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