Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Nature Genetics

Volumn 45, Issue 5, 2013, Pages 531-536

  Lemaire, Mathieu ^a   Frémeaux Bacchi, Véronique ^b,c   Schaefer, Franz ^d   Choi, Murim ^a   Tang, Wai Ho ^a   Quintrec, Moglie Le ^c   Fakhouri, Fadi ^e   Taque, Sophie ^f   Nobili, François ^g   Martinez, Frank ^h   Ji, Weizhen ^a   Overton, John D ^a   Mane, Shrikant M ^a   Nürnberg, Gudrun ⁱ   Altmüller, Janine ⁱ   Thiele, Holger ⁱ   Morin, Denis ^j   Deschenes, Georges ^k   Baudouin, Véronique ^k   Llanas, Brigitte ^l   Collard, Laure ^m   Majid, Mohammed A ⁿ   Simkova, Eva ⁿ   Nürnberg, Peter ^i,o,p   Rioux Leclerc, Nathalie ^f   Moeckel, Gilbert W ^a   Gubler, Marie Claire ^h   Hwa, John ^a   Loirat, Chantal ^k   Lifton, Richard P ^a   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^c CENTRE DE RECHERCHE DES CORDELIERS   (France)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^e NANTES UNIVERSITY HOSPITAL   (France)

^f RENNES UNIVERSITY HOSPITAL   (France)

^g UNIVERSITY HOSPITAL OF BESANÇON   (France)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

^j MONTPELLIER UNIVERSITY HOSPITAL   (France)

^k HÔPITAL ROBERT DEBRÉ   (France)

^l BORDEAUX UNIVERSITY HOSPITAL   (France)

^m Centre Hospitalier Chretien   (Belgium)

ⁿ DUBAI HOSPITAL   (United Arab Emirates)

^o UNIVERSITY OF COLOGNE   (Germany)

^p ATLAS BIOLABS GMBH   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARACHIDONIC ACID; DIACYLGLYCEROL; PROTEIN KINASE C; VON WILLEBRAND FACTOR;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL SURVIVAL; CLINICAL ARTICLE; COMPLEMENT ACTIVATION; CONSANGUINITY; DGKE GENE; DISEASE COURSE; ENDOTHELIUM; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; GLOMERULUS CAPILLARY; HAPLOTYPE; HELLP SYNDROME; HEMATURIA; HEMOLYTIC UREMIC SYNDROME; HUMAN; HYPERTENSION; KIDNEY FUNCTION; KIDNEY INJURY; KIDNEY TRANSPLANTATION; LAST COMMON ANCESTOR; LOSS OF FUNCTION MUTATION; MALE; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; MISSENSE MUTATION; NEPHROTIC SYNDROME; ONSET AGE; PHENOTYPE; PODOCYTE; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PROTEINURIA; SIGNAL TRANSDUCTION; THROMBOCYTE; THROMBOCYTE ACTIVATION; THROMBOTIC THROMBOCYTOPENIC PURPURA;

ACUTE KIDNEY INJURY; CHILD; CHILD, PRESCHOOL; DIACYLGLYCEROL KINASE; EXOME; FEMALE; GENES, RECESSIVE; HEMOLYTIC-UREMIC SYNDROME; HUMANS; IMMUNOENZYME TECHNIQUES; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; RENAL INSUFFICIENCY, CHRONIC; THROMBOCYTOPENIA; THROMBOTIC MICROANGIOPATHIES;

EID: 84878608990     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2590     Document Type: Article

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