Results 91 to 100 of about 36,538 (290)
Advanced Science, EarlyView.This study revealed that adiponectin facilitates the therapeutic efficiency of thrombopoietic agents by stimulating the membrane trafficking of c‐Mpl in MKs, which provides a point for ITP therapy. Moreover, a novel c‐Mpl trafficking mechanism based on the Myosin‐9/Rab6A complex is constructed. These findings provide new insights into the applicability
Xin Zhao +8 more
wiley +1 more source
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017 The Shprintzen-Goldberg syndrome is an extremely rare disorder of the connective tissue, characterized by Marfanoid bodily habitus, craniosynostosis with peculiar facies and skeletal alterations associated with intellectual disability.
Elayne Esther Santana Hernández
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An Amygdala‐hippocampus Circuit for Endocannabinoid Modulation of Anxiety Avoidance
Advanced Science, EarlyView.This study employs three synapse‐specific endocannabinoids (eCB) probes to monitor dynamic eCB release, activate CB1Rs and knockdown 2‐AG biosynthesis enzymes in glutamatergic anterior basolateral amygdala ‐ ventral hippocampus (aBLA–vHPC) circuit. At aBLA–vHPC circuits, activation of CB1Rs reduce anxiety avoidance, and knockdown of eCB biosynthesis ...
Bao Xue +9 more
wiley +1 more source
Clinical standards and interpretation of gene sequence variants in human Mendelian disorders
Chinese Journal of Contemporary Neurology and Neurosurgery, 2017 DOI: 10.3969/j.issn.1672-6731.2017.07 ...
Bei-sha TANG, Sheng ZENG, Kai LI
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Orphanet Journal of Rare Diseases, 2020 Background Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompting ...
Patrícia Varela +13 more
doaj +1 more source
BRD4 Signaling Maintains the Differentiated State of β Cells
Advanced Science, EarlyView.The comprehensive exploration revealed the critical role of BRD4 in β cells. BRD4 plays a fundamental role in maintaining β cell differentiation because both long‐term and acute BRD4 deficiency result in a reduction in insulin secretion and downregulation of differentiation markers.
Fuqiang Liu +22 more
wiley +1 more source
Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells. [PDF]
, 2016 Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Angarita, Stephanie Ak +14 more
core +3 more sources
Advanced Science, EarlyView.This study explores developmental dysplasia of the hip (DDH) by analyzing acetabular labrum abnormalities using single‐cell and spatial transcriptomics. Aberrant fibrocartilage stem cell proliferation is linked to DDH progression. Targeting the MK signaling pathway with a specific inhibitor effectively alleviates early DDH abnormalities, offering ...
Runze Yang +10 more
wiley +1 more source
Strategies and problems of genetic diagnosis for neurogenetic diseases
Chinese Journal of Contemporary Neurology and Neurosurgery, 2017 Neurogenetic diseases are difficult to diagnose due to complicated phenotypes. Genetic testing is always the option for final diagnosis. With the progress and update of molecular diagnostic techniques, especially widely usage of next - generation ...
Xun-hua LI, Ding-bang CHEN, Chao WU
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Respuesta inmune por anticuerpos en niños de hasta cinco años con enfermedades genéticas
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2020 Fundamento: la valoración inmunológica forma parte del tratamiento integral a los pacientes con enfermedades genéticas. Las deficiencias de anticuerpos representan las alteraciones inmunológicas más frecuentes.Objetivo: describir la respuesta de ...
Enelis Reyes-Reyes +3 more
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