Survival motor neuron protein deficiency alters microglia reactivity
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DOI: 10.1002/glia.24177
Abstract: Survival motor neuron (SMN) protein deficiency results in loss of alpha motor neurons and subsequent muscle atrophy in patients with spinal muscular atrophy (SMA). Reactive microglia have been reported in SMA mice and depleting microglia… read more here.
Keywords: survival motor; protein deficiency; sma; motor ... See more keywords
Development of novel quality control material based on CRISPR/Cas9 editing and xenografts for MLH1 protein deficiency testing
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DOI: 10.1002/jcla.23746
Abstract: Mismatch repair deficiency (dMMR) status induced by MLH1 protein deficiency plays a pivotal role in therapeutic decision‐making for cancer patients. Appropriate quality control (QC) materials are necessary for monitoring the accuracy of MLH1 protein deficiency… read more here.
Keywords: quality control; mlh1 protein; deficiency; protein deficiency ... See more keywords
Protein S deficiency in patients from the French Basque Country with various thrombotic conditions: a rarer inherited trait in autochthonous individuals?
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Thrombosis and Thrombolysis"
DOI: 10.1007/s11239-018-1681-7
Abstract: The Basques who live at the Western end of the Pyrenees demonstrate particular genetic characteristics thought to be related to very old ancestry and relative absence of mixing through the ages [1]. Interestingly, when studying… read more here.
Keywords: french basque; various thrombotic; basque country; patients french ... See more keywords
Differential expression of genes in fetal brain as a consequence of maternal protein deficiency and nematode infection.
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DOI: 10.1016/j.ijpara.2017.07.005
Abstract: Maternal dietary protein deficiency and gastrointestinal nematode infection during early pregnancy have negative impacts on both maternal placental gene expression and fetal growth in the mouse. Here we used next-generation RNA sequencing to test our… read more here.
Keywords: fetal brain; infection; nematode infection; protein deficiency ... See more keywords
Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism
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DOI: 10.1016/j.jvscit.2017.11.002
Abstract: Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two… read more here.
Keywords: venous thromboembolism; protein deficiency; two mutations; deficiency ... See more keywords
High prevalence of mental disorders in patients with inherited protein S deficiency: A case report series.
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DOI: 10.1016/j.thromres.2017.02.004
Abstract: Protein S, a natural anticoagulant with profibrinolytic properties, plays an important role in the central nervous system. Studies with cortical neurons showed that protein S binding to TAM(Tyro3, Axl, andMer) receptors enhances proliferation and differentiation… read more here.
Keywords: protein; inherited protein; prevalence; protein deficiency ... See more keywords
Protein S-Leu17Pro disrupts the hydrophobicity of its signal peptide causing a proteasome-dependent degradation.
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DOI: 10.1016/j.thromres.2021.12.014
Abstract: INTRODUCTION Protein S is a vitamin K-dependent glycoprotein with important anticoagulant, fibrinolytic, anti-inflammatory, anti-apoptotic, and cytoprotective functions. Congenital protein S deficiency is an autosomal dominant thrombophilia due to protein S gene (PROS1) variations. Our group… read more here.
Keywords: signal peptide; recombinant protein; protein deficiency; protein ... See more keywords
Diagnostic challenge of the newborn patients with heritable protein C deficiency
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DOI: 10.1038/s41372-018-0262-0
Abstract: AbstarctObjectiveThe diagnosis of neonatal-onset protein C (PC) deficiency is challenging. This study aimed to establish the neonatal screening of heritable PC deficiency in Japan.Study designWe determined the changes in plasma activity levels of PC and… read more here.
Keywords: newborn patients; protein deficiency; diagnostic challenge; deficiency ... See more keywords
A case of polycystic ovary syndrome with inevitable miscarriage and multi-site venous thrombosis caused by hereditary protein C deficiency
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DOI: 10.1080/09513590.2022.2162034
Abstract: Abstract Background Polycystic ovarian syndrome (PCOS) affects up to 18% of reproductive-aged women and raises the risk of venous thromboembolic disease (VTE), due to metabolic features and an apparent fibrinolytic state. Recent studies have shown… read more here.
Keywords: protein deficiency; miscarriage; venous thrombosis; deficiency ... See more keywords
Recurrent pulmonary embolism associated with deep venous thrombosis diagnosed as protein s deficiency owing to a novel mutation in PROS1
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DOI: 10.1097/md.0000000000010714
Abstract: Rationale: Protein S (PS) deficiency that can be inherited or acquired is an independent risk factor for venous thromboembolism (VTE). Patient concerns: In this report, we present a case of recurrent pulmonary embolism (PE) and… read more here.
Keywords: pros1; thrombosis; protein deficiency; recurrent pulmonary ... See more keywords
Perioperative management of laparoscopic surgery in a patient with protein S deficiency complications: A case report
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DOI: 10.1111/ases.12649
Abstract: Patients with protein S deficiency are prone to developing thrombosis. During laparoscopic surgery in patients with protein S deficiency, there is a risk of deep venous thromboembolism. In the present case, the patient was a… read more here.
Keywords: perioperative management; laparoscopic surgery; surgery; protein deficiency ... See more keywords