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Quoted phrase not found in phrase index: "PLIN1-related familial partial lipodystrophy"
Page 1
Familial partial lipodystrophy syndromes.
Fernández-Pombo A, Sánchez-Iglesias S, Cobelo-Gómez S, Hermida-Ameijeiras Á, Araújo-Vilar D. Fernández-Pombo A, et al. Presse Med. 2021 Nov;50(3):104071. doi: 10.1016/j.lpm.2021.104071. Epub 2021 Oct 2. Presse Med. 2021. PMID: 34610417 Review.
Lipodystrophies are a heterogeneous group of rare conditions characterised by the loss of adipose tissue. The most common forms are the familial partial lipodystrophy (FPLD) syndromes, which include a set of disorders, usually autosomal dominant, due to diffe …
Lipodystrophies are a heterogeneous group of rare conditions characterised by the loss of adipose tissue. The most common forms are the f …
Lipodystrophy for the Diabetologist-What to Look For.
Patni N, Garg A. Patni N, et al. Curr Diab Rep. 2022 Sep;22(9):461-470. doi: 10.1007/s11892-022-01485-w. Epub 2022 Jul 11. Curr Diab Rep. 2022. PMID: 35821558 Free PMC article. Review.
In this review, we discuss the various subtypes and when to suspect and how to diagnose lipodystrophy. RECENT FINDINGS: The four major subtypes are autosomal recessive, congenital generalized lipodystrophy (CGL); acquired generalized lipodystrophy (AGL), most …
In this review, we discuss the various subtypes and when to suspect and how to diagnose lipodystrophy. RECENT FINDINGS: The four majo …
Lipodystrophic laminopathies: Diagnostic clues.
Guillín-Amarelle C, Fernández-Pombo A, Sánchez-Iglesias S, Araújo-Vilar D. Guillín-Amarelle C, et al. Nucleus. 2018 Jan 1;9(1):249-260. doi: 10.1080/19491034.2018.1454167. Nucleus. 2018. PMID: 29557732 Free PMC article. Review.
Those disorders in which adipose tissue is affected are called laminopathic lipodystrophies and include type 2 familial partial lipodystrophy and certain premature aging syndromes. ...
Those disorders in which adipose tissue is affected are called laminopathic lipodystrophies and include type 2 familial partial …
Adipokines and aging.
Arai Y, Takayama M, Abe Y, Hirose N. Arai Y, et al. J Atheroscler Thromb. 2011;18(7):545-50. doi: 10.5551/jat.7039. Epub 2011 May 7. J Atheroscler Thromb. 2011. PMID: 21551960 Free article. Review.
However, adipokine dysregulation is paradoxically associated with lipodystrophy and lipoatrophy with aging. In familial partial lipodystrophic syndromes and Hutchinson-Gilford progeria syndrome, both of which are caused by mutations in the LMNA gene, loss of …
However, adipokine dysregulation is paradoxically associated with lipodystrophy and lipoatrophy with aging. In familial par …
Lipodystrophies.
Garg A. Garg A. Am J Med. 2000 Feb;108(2):143-52. doi: 10.1016/s0002-9343(99)00414-3. Am J Med. 2000. PMID: 11126308 Review.
The lipodystrophies can be classified into two major types: familial and acquired. The main subtypes of familial lipodystrophies are congenital generalized lipodystrophy, an autosomal recessive disorder characterized by near complete lack of metabolically act …
The lipodystrophies can be classified into two major types: familial and acquired. The main subtypes of familial lipodystrophi …
PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.
Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, Weedon MN. Laver TW, et al. J Clin Endocrinol Metab. 2018 Sep 1;103(9):3225-3230. doi: 10.1210/jc.2017-02662. J Clin Endocrinol Metab. 2018. PMID: 30020498 Free PMC article.
CONTEXT: Monogenic partial lipodystrophy is a genetically heterogeneous disease where only variants with specific genetic mechanisms are causative. ...PLIN1 null variants occur too frequently in gnomAD (126/138,632; 1 in 1100) to be a cause of rare overt monogenic …
CONTEXT: Monogenic partial lipodystrophy is a genetically heterogeneous disease where only variants with specific genetic mech …
C3 nephritic factors: A changing landscape.
Levy Erez D, Meyers KE, Sullivan KE. Levy Erez D, et al. J Allergy Clin Immunol. 2017 Jul;140(1):57-59. doi: 10.1016/j.jaci.2017.02.018. Epub 2017 Mar 16. J Allergy Clin Immunol. 2017. PMID: 28322851 Free PMC article. No abstract available.
Impaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy.
Simha V, Lanza IR, Dasari S, Klaus KA, Le Brasseur N, Vuckovic I, Laurenti MC, Cobelli C, Port JD, Nair KS. Simha V, et al. J Clin Endocrinol Metab. 2022 Jan 18;107(2):346-362. doi: 10.1210/clinem/dgab725. J Clin Endocrinol Metab. 2022. PMID: 34614176 Free PMC article.
CONTEXT: Familial partial lipodystrophy (FPL), Dunnigan variety is characterized by skeletal muscle hypertrophy and insulin resistance besides fat loss from the extremities. ...
CONTEXT: Familial partial lipodystrophy (FPL), Dunnigan variety is characterized by skeletal muscle hypertrophy and ins …
Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2.
Lazarte J, Wang J, McIntyre AD, Hegele RA. Lazarte J, et al. J Clin Lipidol. 2021 Sep-Oct;15(5):653-657. doi: 10.1016/j.jacl.2021.07.004. Epub 2021 Jul 19. J Clin Lipidol. 2021. PMID: 34340952 Free article.
Familial partial lipodystrophy (FPLD) is a rare Mendelian condition listed in the differential diagnosis of severe hypertriglyceridemia (HTG) and pancreatitis. ...In contrast, FPLD2 patients without diabetes had only mild HTG, with no instances of severe HTG …
Familial partial lipodystrophy (FPLD) is a rare Mendelian condition listed in the differential diagnosis of severe hype …
Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy.
Jéru I, Vantyghem MC, Bismuth E, Cervera P, Barraud S; PLIN1-Study Group; Auclair M, Vatier C, Lascols O, Savage DB, Vigouroux C. Jéru I, et al. J Clin Endocrinol Metab. 2019 Dec 1;104(12):6025-6032. doi: 10.1210/jc.2019-00849. J Clin Endocrinol Metab. 2019. PMID: 31504636 Free PMC article.
CONTEXT: Heterozygous frameshift variants in PLIN1 encoding perilipin-1, a key protein for lipid droplet formation and triglyceride metabolism, have been implicated in familial partial lipodystrophy type 4 (FPLD4), a rare entity with only six families reporte …
CONTEXT: Heterozygous frameshift variants in PLIN1 encoding perilipin-1, a key protein for lipid droplet formation and triglyceride metaboli …
120 results