Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
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Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeGenes and pathophysiology of type 2 diabetes: more than just the Randle cycle all over againMice with deficiency of G protein gamma3 are lean and have seizuresMutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effectsThe blind men 'see' the elephant-the many faces of fatty liver diseaseNew advances in the treatment of generalized lipodystrophy: role of metreleptinCongenital generalized hypertrichosis: the skin as a clue to complex malformation syndromesNew opportunities: harnessing induced pluripotency for discovery in diabetes and metabolismNeuronal seipin knockout facilitates Aβ-induced neuroinflammation and neurotoxicity via reduction of PPARγ in hippocampus of mouseThe seipin complex Fld1/Ldb16 stabilizes ER-lipid droplet contact sites.Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsyArabidopsis SEIPIN Proteins Modulate Triacylglycerol Accumulation and Influence Lipid Droplet ProliferationClinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary NeuropathyA role for phosphatidic acid in the formation of "supersized" lipid dropletsTissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formationPackaging of fat: an evolving model of lipid droplet assembly and expansionThe lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology.Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast.Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologySeipinopathy: a novel endoplasmic reticulum stress-associated diseaseBerardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiationAltered lipid metabolism in residual white adipose tissues of Bscl2 deficient miceBiogenesis and functions of lipid droplets in plants: Thematic Review Series: Lipid Droplet Synthesis and Metabolism: from Yeast to ManSeipin is required for converting nascent to mature lipid dropletsSEIPIN Regulates Lipid Droplet Expansion and Adipocyte Development by Modulating the Activity of Glycerol-3-phosphate AcyltransferaseCoatomer-dependent protein delivery to lipid droplets.The evolutionarily conserved protein CG9186 is associated with lipid droplets, required for their positioning and for fat storage.Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.Biclustering of gene expression data by Non-smooth Non-negative Matrix Factorization.Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy.Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.Lack of testicular seipin causes teratozoospermia syndrome in men.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Lysophosphatidic acid acyltransferase β (LPAATβ) promotes the tumor growth of human osteosarcoma.Lipid droplet analysis in caveolin-deficient adipocytes: alterations in surface phospholipid composition and maturation defects.The role of lipid droplets in metabolic disease in rodents and humans.Towards a mechanistic understanding of lipodystrophy and seipin functionsPhenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.Monogenic diabetes secondary to congenital lipodystrophy in a 14-year-old Yemeni girl.
P2860
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P2860
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Identification of the gene alt ...... dystrophy on chromosome 11q13.
@ast
Identification of the gene alt ...... dystrophy on chromosome 11q13.
@en
Identification of the gene alt ...... dystrophy on chromosome 11q13.
@nl
type
label
Identification of the gene alt ...... dystrophy on chromosome 11q13.
@ast
Identification of the gene alt ...... dystrophy on chromosome 11q13.
@en
Identification of the gene alt ...... dystrophy on chromosome 11q13.
@nl
prefLabel
Identification of the gene alt ...... dystrophy on chromosome 11q13.
@ast
Identification of the gene alt ...... dystrophy on chromosome 11q13.
@en
Identification of the gene alt ...... dystrophy on chromosome 11q13.
@nl
P2093
P50
P356
P1433
P1476
Identification of the gene alt ...... dystrophy on chromosome 11q13.
@en
P2093
A Mégarbané
A Nivelon-Chevalier
BSCL Working Group
C Vigouroux
E Khallouf
E Seemanova
P2888
P304
P356
10.1038/NG585
P407
P577
2001-08-01T00:00:00Z