Results 91 to 100 of about 306,932 (310)
FEBS 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
Inherited giant platelet disorders [PDF]
European Journal of Haematology, 1994 Giant platelet disorders (GPD) refer to rare, usually inherited states characterized by abnormally large platelets, thrombocytopenia and bleeding tendency of variable severity. This review summarizes major clinical and laboratory features of three GPDs (Bernard‐Soulier syndrome, May‐Hegglin anomaly and gray platelet syndrome).
openaire +2 more sources
Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system
FEBS Letters, EarlyView.Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley +1 more source
Familial myelodysplastic syndromes: a review of the literature
Haematologica, 2011 Familial cases of myelodysplastic syndromes are rare, but are immensely valuable for the investigation of the molecular pathogenesis of myelodysplasia in general.
Elena Liew, Carolyn Owen
doaj +1 more source
Ion channels: structural basis for function and disease. [PDF]
, 1996 Ion channels are ubiquitous proteins that mediate nervous and muscular function, rapid transmembrane signaling events, and ionic and fluid balance. The cloning of genes encoding ion channels has led to major strides in understanding the mechanistic basis
Goldstein, SA
core +1 more source
FEBS Letters, EarlyView.This study reveals a unique active site enriched in methionine residues and demonstrates that these residues play a critical role by stabilizing carbocation intermediates through novel sulfur–cation interactions. Structure‐guided mutagenesis further revealed variants with significantly altered product profiles, enhancing pseudopterosin formation. These
Marion Ringel +13 more
wiley +1 more source
Genome-wide association study of behavioural and psychiatric features in human prion disease. [PDF]
, 2015 Prion diseases are rare neurodegenerative conditions causing highly variable clinical syndromes, which often include prominent neuropsychiatric symptoms.
Carswell, C +9 more
core +1 more source
FEBS Letters, EarlyView.Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura +2 more
wiley +1 more source
FACTOR-X DEFICIENCY: A RARE DISORDER TO BE LOOKED FOR IN CASES OF CONGENITAL BLEEDING TENDENCY [PDF]
Khyber Medical University Journal, 2018 Factor X deficiency is a rare, autosomal recessive disorder that involves the coagulation cascade. People with this disorder present with a myriad of early life bleeding complications.
Fatima Ayaz +2 more
doaj
Dyschromatosis universalis hereditaria: A rare case report
Journal of Mahatma Gandhi Institute of Medical Sciences, 2013 Dyschromatosis universalis hereditaria is an autosomal dominant disorder but may be recessive or sporadically inherited disorder, infrequently occurring genodermatosis with peculiar pigmentary changes, consisting of varying sized, intermingled ...
Esha Bisne, Sonia Jain, V B Shivkumar
doaj +1 more source