Results 1 to 10 of about 923 (101)

External validation and insights about the calibration of the return of spontaneous circulation after cardiac arrest (RACA) score [PDF]

Resuscitation Plus, 2022
Background: The return of spontaneous circulation (ROSC) after cardiac arrest (RACA) score was developed as a tool to predict ROSC probability (pROSC) based on easily available information and it could be useful to compare the performances of different ...
Tommaso Scquizzato, Marco Tartaglione, Federico Fiorenzo Semeraro   +2 more
exaly   +4 more sources

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy [PDF]

American Journal of Human Genetics, 2016
Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation. A deficiency of PLP can present, therefore, as seizures and other symptoms that are treatable with PLP and/or pyridoxine.
Peter Clayton, Evangeline Wassmer, Laurence Prunetti   +2 more
exaly   +6 more sources

Cloning and characterization of human and mouse PROSC (proline synthetase co-transcribed) genes [PDF]

Journal of Human Genetics, 1999
Large-scale DNA sequencing, coupled with in silico gene trapping, is a robust approach to identifying unknown genes in selected genomic regions. Using this approach we have isolated a novel human gene, PROSC (for proline synthetase co-transcribed [bacterial homolog]), from human chromosome 8p11.2, and its mouse counterpart. The human PROSC gene spanned
Yusuke Nakamura, Shiro Ikegawa, Minoru Isomura   +2 more
exaly   +3 more sources

Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases [PDF]

Frontiers in Neurology, 2022
PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with
Sarah Alsubhi, Bradley Osterman, Nicolas Chrestian, François Dubeau, Daniela Buhas, Daniela Buhas, Myriam Srour, Myriam Srour, Myriam Srour   +8 more
doaj   +2 more sources

The ubiquitous pyridoxal 5'-phosphate-binding protein is also an RNA-binding protein. [PDF]

Protein Sci
Abstract The pyridoxal 5′‐phosphate binding protein (PLP‐BP) is believed to play a crucial role in PLP homeostasis, which may explain why it is found in living organisms from all kingdoms. Escherichia coli YggS is the most studied homolog, but human PLP‐BP has also attracted much attention because variants of this protein are responsible for a severe ...
Graziani C, Barile A, Parroni A, di Salvo ML, De Cecio I, Colombo T, Babor J, de Crécy-Lagard V, Contestabile R, Tramonti A.   +9 more
europepmc   +2 more sources

MSC Membrane-Coated circPROSC-siRNA Nanoparticles for Ameliorating Craniosynostosis by Inhibiting Premature Suture Ossification. [PDF]

Adv Sci (Weinh)
CircPROSC promotes craniosynostosis by sponging miR‐6815‐5p, thereby activating WNT3A/β‐catenin signaling and enhancing RUNX2‐mediated osteogenesis. Targeted silencing of circPROSC with MSC membrane–coated siRNA nanoparticles (MM@Lipo/si‐circPROSC) delivered postnatally into cranial sutures attenuates premature suture closure in Twist1+/– mice ...
Weng Z, Chen X, Xu J, Yan Q, Jiao J, Liu Q, Gu A.   +6 more
europepmc   +2 more sources

Gene expression of PROSC (proline synthetase co-transcribed) in related to cytosine arabinoside sensitivity in human leukemia

Journal of Electrophoresis, 2008
We examined the PCR differential display analysis of cDNA clones from human leukemia K562 cell line and those of cytosine arabinoside (ara-C) resistant K562 cells. We compared mRNA samples obtained from the two cell lines by amplified restriction fragment length polymorphism (AFLP)-based mRNA fingerprinting; 40 bands were observed in each lane of a gel,
Kuniaki Saito
exaly   +3 more sources

Pyridoxine dependent epilepsies: new therapeutical point of view

Italian Journal of Pediatrics, 2017
Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration.
Giovanni Corsello, Raffaele Falsaperla, Corsello Giovanni   +2 more
exaly   +3 more sources

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene

JIMD Reports, 2019
Vitamin B6‐responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs.
Sabine Grønborg, Anna Wedell, Mads Bak   +2 more
exaly   +2 more sources

A new approach to OSCE preparation - PrOSCEs [PDF]

BMC Medical Education, 2019
Objectively structured clinical examinations (OSCEs) are a stressful experience for many health care students and professionals in training. Mock OSCEs have been shown to be beneficial for student OSCE preparation. However, due to their expense and administrative burden students may only get a few opportunities to partake in these.
James Bevan, Benjamin Russell, Ben Marshall   +2 more
openaire   +5 more sources