Results 81 to 90 of about 4,052,768 (294)

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

Osteoporosis in Multiple Endocrine Neoplasia Type I: A Case Report – Case Report

open access: yesTürk Osteoporoz Dergisi, 2008
Multiple Endocrine Neoplasia type I (MEN type-I) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary.
Kurtuluş Kaya, Ebru Özcan, Sumru Özel
doaj  

The Dilemma of the Double Hernia: Life on the other side of the knife

open access: yesSouth African Family Practice, 1993
No abstract available.
Saville Furman
doaj   +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

A Case Report: Osteoid Osteoma as Cause of Back Pain - Case Report

open access: yesTürk Osteoporoz Dergisi, 2005
Osteoid osteoma is a benign bone tumour which usually determined at the lower extremity long bones diaphysis in childhood and adolescence. Vertebral involvement is seen in 10-25% of cases. Most patients have localize pain, especially at night and pain is
Berrin Leblebici   +3 more
doaj  

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

Transient Osteoporosis of the Hip in Pregnancy: A Case Report - Case Report

open access: yesTürk Osteoporoz Dergisi, 2009
Transient osteoporosis of the hip is an uncommon disease, the cause is not known. This condition is reversible. Because generally the hip joint is effected it is named as “transient osteoporosis of the hip”.
Ayşe Ekim
doaj  

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