Results 51 to 60 of about 436,315 (283)

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

Mutations in Indian patients of Factor X deficiency.

open access: yes, 2014
§Novel variations.Mutations in Indian patients of Factor X deficiency.
Shrimati D. Shetty (566739)   +7 more
core   +1 more source

Circumcision in Patients with Congenital Factor X Deficiency [PDF]

open access: yesThe Indian Journal of Pediatrics, 2014
To the Editor: Congenital factor X deficiency (CFXD) is a rare inherited coagulation disorder, that has an incidence of 1 per million in the general population [1]. It usually presents with various hemorrhagic diathesis correlated with factor X levels [2]. There is no specific factor X replacement product readily available, but fresh-frozen plasma (FFP)
Karaman, Kamuran   +4 more
openaire   +3 more sources

Tau acetylation at K331 has limited impact on tau pathology in vivo

open access: yesFEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto   +3 more
wiley   +1 more source

SUCCESSFUL MANAGEMENT OF SEVERE CONGENITAL FACTOR X DEFICIENCY DURING PREGNANCY AND LABOR WITH PCC IN TWO SISTERS

open access: yesHematology, Transfusion and Cell Therapy, 2022
Introduction: Factor X (FX) deficiency is an autosomal recessive disorder caused by quantitative or qualitative defects in the FX protein. FX deficiency has an estimated worldwide prevalence of one in 1000000.
Alfadil Haroon   +2 more
doaj   +1 more source

Calpain small subunit homodimerization is robust and calcium‐independent

open access: yesFEBS Letters, EarlyView.
Calpains dimerize via penta‐EF‐hand (PEF) domains. Using single‐molecule force spectroscopy, we measured the strength and kinetics of PEF–PEF homodimer binding. The interaction is robust, shows a transient conformational step before dissociation, and remains largely insensitive to Ca2+.
Nesha May O. Andoy   +4 more
wiley   +1 more source

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

open access: yesFEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa   +5 more
wiley   +1 more source

Use of a High-Purity Factor X Concentrate in Turkish Subjects with Hereditary Factor X Deficiency: Post Hoc Cohort Subanalysis of a Phase 3 Study

open access: yesTurkish Journal of Hematology, 2018
Hereditary factor X (FX) deficiency is a rare bleeding disorder more prevalent in countries with high rates of consanguineous marriage. In a prospective, open-label, multicenter phase 3 study, 25 IU/kg plasmaderived factor X (pdFX) was administered as on-
Ahmet F. Öner   +4 more
doaj   +1 more source

Diagnosis and treatment of inherited factor X deficiency [PDF]

open access: yesHaemophilia, 2008
Summary.  Factor X is a vitamin K‐dependent, liver‐produced serine protease that serves a pivotal role in coagulation as the first enzyme in the common pathway to fibrin formation. Inherited factor X deficiency is a rare autosomal recessive bleeding disorder that is estimated to occur in 1:1 000 000 individuals up to 1:500 carriers.
D L, Brown, P A, Kouides
openaire   +2 more sources

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

open access: yesFEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz   +11 more
wiley   +1 more source

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