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| http://dx.doi.org/10.1111/pai.13805 | DOI Listing |
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One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.
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Division of Immunology and Allergy, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine; Institute for Immunology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.
View Article and Find Full Text PDFMultiple regulators constrain the abundance of C. elegans DLK-1 in ciliated sensory neurons.
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January 2025
Department of Neurobiology, School of Biological Sciences, University of California San Diego, La Jolla, CA 92093.
The conserved MAP3K DLKs are widely known for their functions in synapse formation, axonal regeneration and degeneration, and neuronal survival, notably under traumatic injury and chronic disease conditions. In contrast, their roles in other neuronal compartments are much less explored. Through an unbiased forward genetic screening in C.
View Article and Find Full Text PDFA novel model of central precocious puberty disease: Paternal MKRN3 gene-modified rabbit.
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Guangdong Medical Laboratory Animal Center, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China.
Background: Makorin ring finger protein 3 gene (MKRN3) gene mutation is the most common genetic cause of central precocious puberty (CPP) in children. Due to the lack of ideal MKRN3-modified animal model (MKRN3-modified mice enter puberty only 4-5 days earlier than normal mice), the related research is limited.
Methods: Therefore, the MKRN3-modified rabbit was developed using CRISPR (clustered regularly interspaced short palindromic repeats) gene editing technology.
Fixed dosing of alpelisib for children with vascular anomalies: Can we do better?
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Vascular Anomaly Team, Sainte-Justine University Hospital, Université de Montréal, Canada.
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College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Background: The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life-threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes.
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