PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

American Journal of Human Genetics

Volumn 93, Issue 1, 2013, Pages 141-149

  Thauvin Robinet, Christel ^a,b   Auclair, Martine ^c,d,e   Duplomb, Laurence ^a   Caron Debarle, Martine ^c,d,e   Avila, Magali ^a   St Onge, Judith ^a,b   Le Merrer, Martine ^f   Le Luyer, Bernard ^g   Héron, Delphine ^e   Mathieu Dramard, Michèle ^h   Bitoun, Pierre ⁱ   Petit, Jean Michel ^b   Odent, Sylvie ^j,k   Amiel, Jeanne ^d   Picot, Damien ^a   Carmignac, Virginie ^a   Thevenon, Julien ^a,b   Callier, Patrick ^a,b   Laville, Martine ^l,m   Reznik, Yves ^n,o,p   Fagour, Cédric ^q   Nunes, Marie Laure ^q   Capeau, Jacqueline ^c,d,e,r   Lascols, Olivier ^c,d,e,r   Huet, Frédéric ^a,b   Faivre, Laurence ^a,b   Vigouroux, Corinne ^c,d,e,r   Rivière, Jean Baptiste ^a,b   more..

^a UNIVERSITÉ DE BOURGOGNE   (France)

^b DIJON UNIVERSITY HOSPITAL   (France)

^c INSERM   (France)

^d CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g LE HAVRE HOSPITAL   (France)

^h AMIENS UNIVERSITY HOSPITAL   (France)

ⁱ HÔPITAL JEAN VERDIER   (France)

^j RENNES UNIVERSITY HOSPITAL   (France)

^k UNIVERSITÉ DE RENNES 1   (France)

^l CENTRE HOSPITALIER LYON SUD   (France)

^m UNIVERSITÉ LYON 1   (France)

ⁿ CHU CÔTE DE NACRE   (France)

^o UNIVERSITÉ DE CAEN   (France)

^p CEMAGREF   (France)

^q HAUT LÉVÊQUE HOSPITAL   (France)

^r ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN; MEMBRANE PROTEIN; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3 KINASE RECEPTOR 1; PROTEIN P50 ALPHA; PROTEIN P55 ALPHA; PROTEIN P85 ALPHA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; EXOME; EYE DISEASE; FEMALE; GENE MUTATION; GROWTH RETARDATION; HUMAN; INGUINAL HERNIA; INSULIN RESISTANCE; JOINT LAXITY; LIPOATROPHY; MALE; OCULAR DEPRESSION; PRIORITY JOURNAL; RIEGER SYNDROME; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; SIGNAL TRANSDUCTION; TOOTH ERUPTION;

DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; FIBROBLASTS; GENETIC PREDISPOSITION TO DISEASE; GESTATIONAL AGE; GLUCOSE; GROWTH DISORDERS; HUMANS; HYPERCALCEMIA; INSULIN; INSULIN RESISTANCE; MALE; METABOLIC DISEASES; MUTATION; NEPHROCALCINOSIS; PEDIGREE; PHOSPHATIDYLINOSITOL 3-KINASES; PROTO-ONCOGENE PROTEINS C-AKT; SIGNAL TRANSDUCTION;

EID: 84880275532     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.05.019     Document Type: Article

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