Results 101 to 110 of about 1,074,296 (345)

Tense Ascites as a Presentaton of Protein S Defciency in a 9-Year-Old Boy

open access: yesCase Reports in Clinical Practice, 2019
Ascites is not a usual finding in prehepatic portal hypertension, including portal vein thrombosis, but when portal vein thrombosis is acute and massive, ascites can be a presenting feature.
Masoumeh Asgarshirazi   +4 more
doaj   +1 more source

Multiple ETS family transcription factors bind mutant p53 via distinct interaction regions

open access: yesFEBS Letters, EarlyView.
Mutant p53 gain‐of‐function is thought to be mediated by interaction with other transcription factors. We identify multiple ETS transcription factors that can bind mutant p53 and found that this interaction can be promoted by a PXXPP motif. ETS proteins that strongly bound mutant p53 were upregulated in ovarian cancer compared to ETS proteins that ...
Stephanie A. Metcalf   +6 more
wiley   +1 more source

Primary Coenzyme Q10 Deficiency [PDF]

open access: yes, 2017
open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara   +3 more
core  

Lactoferrin. A natural glycoprotein involved in iron and inflammatory homeostasis [PDF]

open access: yes, 2017
Human lactoferrin (hLf), an iron-binding multifunctional cationic glycoprotein secreted by exocrine glands and by neutrophils, is a key element of host defenses.
Cutone, Antimo   +4 more
core   +2 more sources

The newfound relationship between extrachromosomal DNAs and excised signal circles

open access: yesFEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Livedoid vasculopathy with mononeuritis multiplex associated with protein S deficiency mimicking systemic vasculitis

open access: yesIndian Journal of Rheumatology, 2019
A 34-year-old female presented with recurrent ulcers over the bilateral lower limbs with mononeuritis multiplex. Possibilities considered were small-to-medium vessel vasculitis and vasculopathy.
Vikramraj K Jain   +2 more
doaj   +1 more source

Noggin depletion in adipocytes promotes obesity in mice. [PDF]

open access: yes, 2019
ObjectiveObesity has increased to pandemic levels and enhanced understanding of adipose regulation is required for new treatment strategies. Although bone morphogenetic proteins (BMPs) influence adipogenesis, the effect of BMP antagonists such as Noggin ...
Blázquez-Medela, Ana M   +14 more
core   +1 more source

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

open access: yesFEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva   +5 more
wiley   +1 more source

Sneddon syndrome associated with Protein S deficiency

open access: yesIndian Journal of Dermatology, Venereology, and Leprology, 2012
Sneddon syndrome (SS) is rare, arterio-occlusive disorder characterized by generalized livedo racemosa of the skin and various central nervous symptoms due to occlusion of medium-sized arteries of unknown. Seizure, cognitive impairment, hypertension, and history of repetitive miscarriages are the other symptoms seen in this disease.
TOMBUL, Temel   +3 more
openaire   +3 more sources

A requirement for STAG2 in replication fork progression creates a targetable synthetic lethality in cohesin-mutant cancers. [PDF]

open access: yes, 2019
Cohesin is a multiprotein ring that is responsible for cohesion of sister chromatids and formation of DNA loops to regulate gene expression. Genomic analyses have identified that the cohesin subunit STAG2 is frequently inactivated by mutations in cancer.
Ashworth, Alan   +4 more
core   +2 more sources

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