SwePub
Sök i LIBRIS databas

  Utökad sökning

onr:"swepub:oai:lup.lub.lu.se:3b629163-d689-44cf-96b4-1c8c0eb26eb8"
 

Sökning: onr:"swepub:oai:lup.lub.lu.se:3b629163-d689-44cf-96b4-1c8c0eb26eb8" > Hematologically imp...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005513naa a2200757 4500
001oai:lup.lub.lu.se:3b629163-d689-44cf-96b4-1c8c0eb26eb8
003SwePub
008211222s2021 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/3b629163-d689-44cf-96b4-1c8c0eb26eb82 URI
0247 a https://doi.org/10.1016/j.bcmd.2021.1025962 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Roos, Dirku Academic Medical Center of University of Amsterdam (AMC)4 aut
2451 0a Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update)
264 1b Elsevier BV,c 2021
520 a Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is subsequently metabolized to hydrogen peroxide and other reactive oxygen species (ROS). These products are essential for intracellular killing of pathogens by phagocytic leukocytes (neutrophils, eosinophils, monocytes and macrophages). The leukocyte NADPH oxidase is composed of five subunits, four of which are encoded by autosomal genes. These are CYBA, encoding p22phox, NCF1, encoding p47phox, NCF2, encoding p67phox and NCF4, encoding p40phox. This article lists all mutations identified in these genes in CGD patients. In addition, cytochrome b558 chaperone-1 (CYBC1), recently recognized as an essential chaperone protein for the expression of the X-linked NADPH oxidase component gp91phox (also called Nox2), is encoded by the autosomal gene CYBC1. Mutations in this gene also lead to CGD. Finally, RAC2, a small GTPase of the Rho family, is needed for activation of the NADPH oxidase, and mutations in the RAC2 gene therefore also induce CGD-like symptoms. Mutations in these last two genes are also listed in this article.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Immunologi inom det medicinska området0 (SwePub)301102 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Immunology in the medical area0 (SwePub)301102 hsv//eng
653 a Autosomal recessive
653 a Chronic granulomatous disease
653 a Mutation
653 a NADPH oxidase
653 a Polymorphism
7001 a van Leeuwen, Karinu Academic Medical Center of University of Amsterdam (AMC)4 aut
7001 a Hsu, Amy P.u National Institute of Allergy and Infectious Diseases4 aut
7001 a Priel, Debra Longu National Cancer Institute at Frederick4 aut
7001 a Begtrup, Amber4 aut
7001 a Brandon, Rhonda4 aut
7001 a Rawat, Amitu Postgraduate Institute of Medical Education and Research4 aut
7001 a Vignesh, Pandiarajanu Postgraduate Institute of Medical Education and Research4 aut
7001 a Madkaikar, Manesha4 aut
7001 a Stasia, Marie Joséu University Grenoble Alpes4 aut
7001 a Bakri, Faris Ghalibu University of Jordan4 aut
7001 a de Boer, Martinu Academic Medical Center of University of Amsterdam (AMC)4 aut
7001 a Roesler, Joachim4 aut
7001 a Köker, Nezihe4 aut
7001 a Köker, M. Yavuz4 aut
7001 a Jakobsen, Marianneu Odense University Hospital4 aut
7001 a Bustamante, Jacintau Institut Gustave Roussy4 aut
7001 a Garcia-Morato, Maria Bravou University Hospital La Paz4 aut
7001 a Shephard, Juan Luis Valdiviesou University Hospital La Paz4 aut
7001 a Cagdas, Denizu Hacettepe University4 aut
7001 a Tezcan, Ilhanu Hacettepe University4 aut
7001 a Sherkat, Roya4 aut
7001 a Mortaz, Esmaeil4 aut
7001 a Fayezi, Abbasu Ahvaz Jundishapur University of Medical Sciences4 aut
7001 a Shahrooei, Mohammadu Catholic University of Leuven4 aut
7001 a Wolach, Baruchu Meir Medical Center4 aut
7001 a Blancas-Galicia, Lizbethu National Institute Of Pediatrics, Mexico4 aut
7001 a Kanegane, Hirokazu4 aut
7001 a Kawai, Toshinaou National Center for Child Health and Development4 aut
7001 a Condino-Neto, Antoniou University of São Paulo4 aut
7001 a Vihinen, Maunou Lund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,Protein Bioinformatics,Lund University Research Groups4 aut0 (Swepub:lu)med-mnv
7001 a Zerbe, Christa S.u National Institute of Allergy and Infectious Diseases4 aut
7001 a Holland, Steven M.u National Institute of Allergy and Infectious Diseases4 aut
7001 a Malech, Harry L.u National Institute of Allergy and Infectious Diseases4 aut
7001 a Gallin, John I.u National Institute of Allergy and Infectious Diseases4 aut
7001 a Kuhns, Douglas B.u National Cancer Institute at Frederick4 aut
7102 a Academic Medical Center of University of Amsterdam (AMC)b National Institute of Allergy and Infectious Diseases4 org
7730 t Blood Cells, Molecules, and Diseasesd : Elsevier BVg 92q 92x 1079-9796
8564 u http://dx.doi.org/10.1016/j.bcmd.2021.102596y FULLTEXT
8564 8u https://lup.lub.lu.se/record/3b629163-d689-44cf-96b4-1c8c0eb26eb8
8564 8u https://doi.org/10.1016/j.bcmd.2021.102596

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy