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The Influence of Structural Factors and Telemedicine on Missed Appointments Among Medicaid-Insured Patients.
J Racial Ethn Health Disparities
January 2025
Valleywise Health, Phoenix, AZ, USA.
Background: Missed clinic appointments disproportionately affect Medicaid-insured patients and residents of socioeconomically deprived neighborhoods. The role of the recent telemedicine expansion in reducing these disparities is unclear. We analyzed the relationship between census tract (CT) poverty level, residential segregation, missed appointments, and the role of telemedicine.
View Article and Find Full Text PDFCompound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.
J Neural Transm (Vienna)
January 2025
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente, Cebu, Philippines.
Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.
View Article and Find Full Text PDFRapid human oogonia-like cell specification via transcription factor-directed differentiation.
EMBO Rep
January 2025
Department of Biomedical Engineering, Duke University, Durham, NC, USA.
The generation of germline cells from human induced pluripotent stem cells (hiPSCs) represents a milestone toward in vitro gametogenesis. Methods to recapitulate germline development beyond primordial germ cells in vitro have relied on long-term cell culture, such as 3-dimensional organoid co-culture for ~four months. Using a pipeline with highly parallelized screening, this study identifies combinations of TFs that directly and rapidly convert hiPSCs to induced oogonia-like cells (iOLCs).
View Article and Find Full Text PDFThe Asgard archaeal origins of Arf family GTPases involved in eukaryotic organelle dynamics.
Nat Microbiol
January 2025
Université Paris Cité, CNRS, Institut Jacques Monod, Paris, France.
The evolution of eukaryotes is a fundamental event in the history of life. The closest prokaryotic lineage to eukaryotes, the Asgardarchaeota, encode proteins previously found only in eukaryotes, providing insight into their archaeal ancestor. Eukaryotic cells are characterized by endomembrane organelles, and the Arf family GTPases regulate organelle dynamics by recruiting effector proteins to membranes upon activation.
View Article and Find Full Text PDFComparative proteomic analysis of astrocytoma tissues from patients with and without seizures.
Sci Rep
January 2025
Neurology Unit, Department of Medicine, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.
Astrocytoma is a common type of glioma and a frequent cause of brain tumour-related epilepsy. Although the link between glioma and epilepsy is well established, the precise mechanisms underlying epileptogenesis in astrocytoma remain poorly understood. In this study, we performed proteomic analysis of astrocytoma tissue from patients with and without seizures using mass spectrometry-based techniques.
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