Results 91 to 100 of about 3,011,928 (292)

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

open access: yesFEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li   +2 more
wiley   +1 more source

Melorheostosis: A case report

open access: yesRevista Brasileira de Ortopedia (English Edition), 2013
Melorheostosis is a rare disease (0.9/million habitants), characterized by linear hyperostosis along the cortex bone. It can affect any bone, being more frequent in long bones. The lesions tend to be segmental and unilateral. The etiology remains unknown although several theories proposed over the past year (vascular, inflammatory processes, embryonic ...
Alpoim, Bruno Pereira   +5 more
openaire   +5 more sources

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

open access: yesFEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai   +9 more
wiley   +1 more source

Pseudotumoral form of cerebral Schistosomiasis Mansoni

open access: yes, 2012
The authors report a case of 36-year-old woman presented with epileptic seizures and headaches. Magnetic resonance imaging (MRI) revealed an enhancing lesion with surrounding edema and mild mass effect in the left frontal lobe.
Gabarra, R. C. [UNESP]   +11 more
core   +1 more source

Epiphora as a sign of unexpected underlying squamous cell carcinoma within sinonasal inverted papilloma

open access: yes, 2020
Sinonasal inverted papilloma (SIP) is a benign tumor which originates from the sinonasal Schneiderian mucosa and accounts for 0.5% to 4% of all nasal and sinus neoplasm [1].
Luca Malvezzi   +9 more
core   +1 more source

Mad honey-related intoxication in an infant: A case report [PDF]

open access: yes, 2016
Kalkan, Asim/0000-0002-5800-0201Introduction: the nutraceutical value and ingredients of honey make it attractive for complementary and alternative medicine. Herein, we report a case of mad honey intoxication in an infant following the ingestion of honey
Yavaşi, Özcan   +3 more
core   +1 more source

The planar cell polarity protein Vangl2 interacts with the PDZ‐domains of Scribble but not with a unique PDZ‐like domain in Inturned

open access: yesFEBS Letters, EarlyView.
Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes   +4 more
wiley   +1 more source

Case Report [PDF]

open access: yesDeutsches Ärzteblatt international, 2015
Robert, Stangl, Cornelius, Voigt
openaire   +2 more sources

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