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Lipodystrophy, Congenital Generalized, Type 4

Known as: Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy, CGL4, Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy 
National Institutes of Health

Related topics

Related topics

28 relations
Acanthosis NigricansAtrial FibrillationAutosomal recessive inheritanceBradycardia

Broader (1)

Familial generalized lipodystrophy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Congenital lipodystrophy induces severe osteosclerosis
Berardinelli-Seip congenital generalized lipodystrophy is associated with increased bone mass suggesting that fat tissue… 
2017
2017
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.
PURPOSE We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between… 
Highly Cited
2016
Highly Cited
2016
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
CONTEXT Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of… 
2012
2012
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction.
BACKGROUND Congenital generalized lipodystrophy (CGL) results from mutations in AGPAT2, encoding 1-acyl-glycerol-3-phosphate… 
Highly Cited
2010
Highly Cited
2010
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.
1999
1999
Enhanced expression of glucose transporter GLUT3 in tumorigenic HeLa cell hybrids associated with tumor suppressor dysfunction.
Previous studies on human cell hybrids between HeLa and normal human fibroblasts have indicated that the tumorigenicy may be… 
1999
1999
Tumorigenic conversion resulting from inhibition of apoptosis in a nontumorigenic HeLa-derived hybrid cell line.
Although tumorigenicity in nude mice is one of the most important transformed phenotypes, its mechanism has been little analyzed… 
1998
1998
Reduction of caveolin-1 expression in tumorigenic human cell hybrids.
Studies on human cell hybrids of a cervical carcinoma cell line, HeLa, and normal fibroblasts have indicated that the… 
1995
1995
A tumor-associated glycosylation change in the glucose transporter GLUT1 controlled by tumor suppressor function in human cell hybrids.
Studies of human cell hybrids have provided evidence that the tumorigenicity of a cervical carcinoma (HeLa) is under the control… 
1990
1990
Identification of the HeLa tumor-associated antigen, p75/150, as intestinal alkaline phosphatase and evidence for its transcriptional regulation.
Prior studies identified a cell-surface antigen, p75/150, that exclusively associated with the tumorigenic phenotype of the HeLa… 
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