thrombocytopenia/prolinas

Nuoroda įrašoma į mainų sritį

StraipsniaiKlinikiniai tyrimaiPatentai

Pasirinkite rūšiavimo tipą

Puslapis 1 nuo 28 rezultatus

X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP).

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

OBJECTIVE We studied two adult brothers with severe congenital thrombocytopenia in order to determine the genetic etiology of their inherited disorder. Despite the absence of eczema or immunodeficiency, a mutation of the Wiskott-Aldrich syndrome (WAS) gene was suspected because of the presence of

Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT).

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Congenital amegakaryocytic thrombocytopenia (CAMT) without physical anomalies is a rare disease, presenting isolated thrombocytopenia and megakaryocytopenia in infancy, which can evolve into aplastic anemia and leukemia. Recently, two heterozygous truncating mutations of the thrombopoietin (TPO)

Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder described as a clinical triad of thrombocytopenia, eczema, and immunodeficiency. The gene responsible for WAS encodes a 502-amino acid proline-rich protein (WASp) that is likely to play a role in the cytoskeleton reorganization

Modeling and molecular dynamics simulations of the V33 variant of the integrin subunit β3: Structural comparison with the L33 (HPA-1a) and P33 (HPA-1b) variants.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

The human platelet alloantigen (HPA)-1 system, the first cause of alloimmune thrombocytopenia in Caucasians, results from leucine-to-proline substitution (alleles 1a and 1b) of residue 33 in β3 subunit of the integrin αIIbβ3. A third variant with a valine (V33) has been described. Although leucine

Cdc42-interacting protein 4 mediates binding of the Wiskott-Aldrich syndrome protein to microtubules.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

The Wiskott-Aldrich syndrome is an inherited X-linked immunodeficiency characterized by thrombocytopenia, eczema, and a tendency toward lymphoid malignancy. Lymphocytes from affected individuals have cytoskeletal abnormalities, and monocytes show impaired motility. The Wiskott-Aldrich syndrome

Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott-Aldrich syndrome patients carrying 'null' mutations.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Boys affected with Wiskott-Aldrich syndrome (WAS) present with variable association of thrombocytopenia, eczema and immune deficiency. If untreated, WAS patients may succumb to intracerebral hemorrhages, severe infections or malignancies. Allogeneic bone marrow transplantation (BMT) can cure all

Platelet alphaIIbbeta3 recombinant autoantibodies from the B-cell repertoire of a post-transfusion purpura patient.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

The biallelic human platelet alloantigen (HPA) 1 system encodes a leucine to proline substitution at position 33 in the beta3 integrin. Homozygous individuals can be immunized by the non-self allele-encoded protein following transfusion or during pregnancy. In post-transfusion purpura (PTP), a

Wiskott-Aldrich syndrome (role of WASP).

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. WASP, the gene responsible for WAS, has been identified by positional cloning, contains a PH domain, a GBD domain, a proline rich region, and a verprolin/cofilin homology domain.

The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ib alpha.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Bernard-Soulier syndrome (B-Ss) is a rare congenital bleeding disorder caused by abnormal giant platelets, thrombocytopenia, and defective glycoprotein (GP) Ib-V-IX, the adhesion receptor for von Willebrand factor (vWF). This report describes the molecular defect in two related individuals with

Characterization of the Wiskott-Aldrich syndrome protein and its role in the disease.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Wiskott-Aldrich syndrome is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. The Wiskott-Aldrich syndrome protein and the gene that encodes it have been identified by positional cloning and the protein has been shown to contain a pleckstrin-homology domain, a

Bernard-Soulier syndrome: common ancestry in two African American families with the GP Ib alpha Leu129Pro mutation.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Bernard-Soulier syndrome (BSs) is a rare bleeding disorder characterized by circulating giant platelets, thrombocytopenia, and a prolonged bleeding time. BSs usually has an autosomal recessive inheritance pattern, with a preponderance of Caucasian and Japanese ancestry when the ethnic background has

Expression and purification of functional recombinant epitopes for the platelet antigens, PlA1 and PlA2.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

The platelet antigens, PlA1 and PlA2, are responsible for most cases of posttransfusion purpura (PTP) and neonatal alloimmune thrombocytopenia (NAIT) in the caucasian population and are determined by two allelic forms of the platelet glycoprotein GPIIIa gene. To study the interaction between these

Modeling and molecular dynamics of HPA-1a and -1b polymorphisms: effects on the structure of the β3 subunit of the αIIbβ3 integrin.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

BACKGROUND The HPA-1 alloimmune system carried by the platelet integrin αIIbβ3 is the primary cause of alloimmune thrombocytopenia in Caucasians and the HPA-1b allele might be a risk factor for thrombosis. HPA-1a and -1b alleles are defined by a leucine and a proline, respectively, at position 33 in

Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

We describe a syndrome of thrombocytopenia, bleeding episodes, congenital heart disease and facial dysmorphism in a newborn infant, and trace the cause to mutations on chromosome 22 that involve the gene for platelet glycoprotein Ib beta (GPIb beta, Human Genome Organisation gene symbol GPIBB), a

The D173G mutation in ADAMTS-13 causes a severe form of congenital thrombotic thrombocytopenic purpura. A clinical, biochemical and in silico study.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Congenital thrombotic thrombocytopenic purpura (TTP) is a rare form of thrombotic microangiopathy, inherited with autosomal recessive mode as a dysfunction or severe deficiency of ADAMTS-13 (A Disintegrin And Metalloprotease with ThromboSpondin 1 repeats Nr. 13), caused by mutations in the ADAMTS-13

Ankstesnis
1
2
Kitas

Prisijunkite prie mūsų
„Facebook“ puslapio

Herbal & Natural Medicine

Išsamiausia vaistinių žolelių duomenų bazė, paremta mokslu

Dirba 55 kalbomis
Žolelių gydymas, paremtas mokslu
Vaistažolių atpažinimas pagal vaizdą
Interaktyvus GPS žemėlapis - pažymėkite vaistažoles vietoje (netrukus)
Skaitykite mokslines publikacijas, susijusias su jūsų paieška
Ieškokite vaistinių žolelių pagal jų poveikį
Susitvarkykite savo interesus ir sekite naujienas, klinikinius tyrimus ir patentus

Įveskite simptomą ar ligą ir perskaitykite apie žoleles, kurios gali padėti, įveskite žolę ir pamatykite ligas bei simptomus, nuo kurių ji naudojama.
* Visa informacija pagrįsta paskelbtais moksliniais tyrimais