Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13

Nature Genetics

Volumn 28, Issue 4, 2001, Pages 365-370

  Magré, Jocelyne ^a   Delépine, Marc ^b   Khallouf, Eliane ^c   Gedde Dahl Jr , Tobias ^d   Van Maldergem, Lionel ^e   Sobel, Eric ^b   Papp, Jeanette ^b   Meier, Muriel ^a   Mégarbané, André ^f   Bachy, A ^g   Verloes, A ^g   D'Abronzo, F H ^g   Seemanova, E ^g   Assan, R ^g   Baudic, N ^g   Bourut, C ^g   Czernichow, P ^g   Huet, F ^g   Grigorescu, F ^g   De Kerdanet, M ^g   Lacombe, D ^g   Labrune, P ^g   Lanza, M ^g   Loret, H ^g   Matsuda, F ^g   Navarro, J ^g   Nivelon Chevalier, A ^g   Polak, M ^g   Robert, J J ^g   Tric, P ^g   Tubiana Rufi, N ^g   Vigouroux, C ^g   Weissenbach, J ^g   Savasta, S ^g   Maassen, J A ^g   Trygstad, O ^g   Bogalho, P ^g   Freitas, P ^g   Medina, J L ^g   Bonnicci, F ^g   Joffe, B I ^g   Loyson, G ^g   Panz, V R ^g   Raal, F J ^g   O'Rahilly, S ^g   Stephenson, T ^g   Kahn, C R ^g   Lathrop, Mark ^b   Capeau, Jacqueline ^a   more..

^a INSERM   (France)

^b CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d UNIVERSITY OF OSLO   (Norway)

^e INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^f SAINT JOSEPH UNIVERSITY   (Lebanon)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BERARDINELLI SEIP SYNDROME; CHROMOSOME 11Q; CLINICAL FEATURE; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; INSULIN RESISTANCE; LIPODYSTROPHY; PEDIGREE; PRIORITY JOURNAL;

ACANTHOSIS NIGRICANS; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 9; CLUSTER ANALYSIS; DIABETES COMPLICATIONS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; GENETIC SCREENING; GTP-BINDING PROTEIN GAMMA SUBUNITS; HAPLOTYPES; HEPATOMEGALY; HETEROTRIMERIC GTP-BINDING PROTEINS; HUMANS; HYPERANDROGENISM; HYPERTRIGLYCERIDEMIA; INSULIN RESISTANCE; LEBANON; LINKAGE (GENETICS); LIPODYSTROPHY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NORWAY; ORGAN SPECIFICITY; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0034941121     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng585     Document Type: Article

References (30)

1. An undiagnosed endocrinometabolic syndrome: Report of two cases
2. Lipoatrophy and gigantism with associated endocrine manifestations: A new diencephalic syndrome?
3. Syndromes of severe insulin resistance: Clinical and pathophysiological features
4. Generalized lipodystrophy, congenital and acquired (lipoatrophy)
5. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34
6. Structure and mapping of the G protein gamma3 subunit gene and a divergently transcribed novel gene, gng3lg
7. Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
8. A comprehensive genetic map of the human genome based on 5,264 microsatellites
9. Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: Epidemiology and gene mapping
10. Large-scale concatenation cDNA sequencing
11. Growth suppression of Escherichia coli by induction of expression of mammalian genes with transmembrane or ATPase domains
12. The genome sequence of Drosophila melanogaster
13. Lipodystrophy and hepatomegaly with diabetes, lipemia and other metabolic disturbances
14. Diencephalic involvement in generalized lipodystrophy: Rationale and treatment with the neuroleptic agent, pimozide
15. Failure of hypophysectomy in generalized lipodystrophy
16. Pituitary-hypothalamic dysfunction in generalized lipodystrophy
17. Genetic analysis of non-insulin dependent diabetes mellitus in the GK rat
18. Chromosomal mapping of genetic loci associated with non-insulin dependent diabetes in the GK rat
19. Genetic dissection of "OLETF," a rat model for non-insulin-dependent diabetes mellitus: Quantitative trait locus analysis of (OLETF × BN) × OLETF
20. Lamin A/C gene: Sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy
21. Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type, express normal insulin receptors
22. Molecular scanning of the insulin receptor gene in syndromes of insulin resistance
23. Genetic exclusion of 14 candidate genes in lipoatrophic diabetes using linkage analysis in 10 consanguineous families
24. Congenital lipodystrophy: An endocrine study in three siblings. I. Disorders of carbohydrate metabolism
25. Insulin receptor substrate-1 gene variants in lipoatrophic diabetes mellitus and non-insulin-dependent diabetes mellitus: A study of South African black and white subjects
26. Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Mullerian ducts in a Turkish boy born to consanguineous parents
27. An STS-based radiation hybrid map of the human genome
28. Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics
29. Base-calling of automated sequencer traces using phred. I. Accuracy assessment