Results 61 to 70 of about 1,017,222 (288)

CLINICAL PROFILE OF PATIENTS WITH RARE INHERITED COAGULATION DISORDERS: A RETROSPECTIVE ANALYSIS OF 67 PATIENTS FROM NORTHERN INDIA

open access: yesMediterranean Journal of Hematology and Infectious Diseases, 2012
Introduction: Inherited bleeding disorders are characterized by the absence or reduced level of clotting factors, and the clinical manifestations vary according to the type and magnitude of the deficient factor. Aim: To study the clinical presentation of
Sanjeev Kumar Sharma   +10 more
doaj   +3 more sources

Haematalogical investigations in children [PDF]

open access: yes, 2009
The haematology laboratory is able to perform a number of tests to help establish the cause of illness in children. The full blood count (FBC, also known as a complete blood count, CBC) is one of the most basic blood tests performed on children ...
Chalmers, E.A., Halsey, C.
core  

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

open access: yesFEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee   +3 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

Structural biology of ferritin nanocages

open access: yesFEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +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

Role of vitamin A/retinoic acid in regulation of embryonic and adult hematopoiesis [PDF]

open access: yes, 2017
Vitamin A is an essential micronutrient throughout life. Its physiologically active metabolite retinoic acid (RA), acting through nuclear retinoic acid receptors (RARs), is a potent regulator of patterning during embryonic development, as well as being ...
Adamo   +23 more
core   +4 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

Factor X deficiency presenting as an intracranial bleed in a young infant

open access: yesPediatric Hematology Oncology Journal
Inherited Factor X deficiency is a rare bleeding disorder. It is inherited in autosomal recessive manner. The genotype and the phenotype are variable. The management is tailored as per individual patient.
Sanyukta Sandeep Ghodke   +7 more
doaj   +1 more source

Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency

open access: yesHaematologica, 2008
Factor X deficiency is a severe rare hemorrhagic condition inherited as an autosomal recessive trait. It is one of the most severe recessive inherited coagulation disorders. We analyzed the clinical manifestations, laboratory phenotype and genotype in 10
Mehran Karimi   +4 more
doaj   +1 more source

Home - About - Disclaimer - Privacy