Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

EMBO Molecular Medicine

Volumn 1, Issue 5, 2009, Pages 280-287

  Rubio Cabezas, Oscar ^a,m,n   Puri, Vishwajeet ^b   Murano, Incoronata ^c   Saudek, Vladimir ^d   Semple, Robert K ^d   Dash, Satya ^d   Hyden, Caroline S S ^d   Bottomley, William ^e   Vigouroux, Corinne ^f,g,h   Magré, Jocelyne ^f,g   Raymond Barker, Philippa ^d   Murgatroyd, Peter R ^d   Chawla, Anil ^b   Skepper, Jeremy N ⁱ   Chatterjee, V Krishna ^d   Suliman, Sara ^j   Consortium, LD Screening ^j   Patch, Ann Marie ^k   Agarwal, Anil K ^l   Garg, Abhimanyu ^l   Barroso, Inês ^e   Cinti, Saverio ^c   Czech, Michael P ^b   Argente, Jesús ^a,m,n   O'Rahilly, Stephen ^d   Savage, David B ^d   more..

^a HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^b UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^c UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^f SORBONNE UNIVERSITÉ   (France)

^g INSERM   (France)

^h HÔPITAL TENON   (France)

ⁱ UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^j UNIVERSITY OF OXFORD   (United Kingdom)

^k PENINSULA MEDICAL SCHOOL   (United Kingdom)

^l UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^m UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

ⁿ INSTITUTO DE SALUD CARLOS III   (Spain)

more..

Author keywords

CIDEC (Fsp27); Insulin resistance; Lipid droplet; Lipodystrophy

Indexed keywords

ADIPONECTIN; BICARBONATE; C PEPTIDE; CELL DEATH INDUCING DFFA LIKE EFFECTOR C PROTEIN; EFFECTOR CASPASE; FAT DROPLET; GLUCOSE; HEMOGLOBIN A1C; INSULIN; KETONE; MUTANT PROTEIN; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

ABDOMINAL SUBCUTANEOUS FAT; ACANTHOSIS NIGRICANS; ADULT; ARTICLE; CASE REPORT; CELL DEATH; CONTROLLED STUDY; DIABETIC KETOACIDOSIS; DRUG MEGADOSE; DUAL ENERGY X RAY ABSORPTIOMETRY; DYSLIPIDEMIA; FAMILIAL PARTIAL LIPODYSTROPHY; FATTY LIVER; FEMALE; GENETIC TRANSFECTION; GLYCEMIC CONTROL; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERTENSION; HYPERTRIGLYCERIDEMIA; INSULIN RESISTANCE; MENSTRUAL IRREGULARITY; MICROALBUMINURIA; MOUSE; NONHUMAN; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PANCREATITIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DOMAIN; WHITE ADIPOSE TISSUE;

3T3 CELLS; ANIMALS; BASE SEQUENCE; CODON, NONSENSE; DIABETES MELLITUS; FEMALE; HUMANS; INSULIN RESISTANCE; LIPODYSTROPHY; MALE; MICE; MOLECULAR SEQUENCE DATA; PEDIGREE; PROTEIN TRANSPORT; PROTEINS; YOUNG ADULT;

EID: 70450220107     PISSN: 17574676     EISSN: 17574684     Source Type: Journal    
DOI: 10.1002/emmm.200900037     Document Type: Article

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