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The following term was not found in PubMed: cidec-related
Page 1
Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.
Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH. Gupta N, et al. J Clin Endocrinol Metab. 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. J Clin Endocrinol Metab. 2017. PMID: 27967300 Free PMC article. Review.
CONTEXT: Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue. ...Generalized fat loss involving face, neck, abdomen, thorax, and upper and lower limbs was explicitly reported in 65% to 93% of patients with congenital general …
CONTEXT: Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue. ...Generalized fat los …
Development of Antisense Oligonucleotide Gapmers for the Treatment of Dyslipidemia and Lipodystrophy.
Aslesh T, Yokota T. Aslesh T, et al. Methods Mol Biol. 2020;2176:69-85. doi: 10.1007/978-1-0716-0771-8_5. Methods Mol Biol. 2020. PMID: 32865783 Review.
Mipomersen (trade name Kynamro), a 2'-O-methoxyethyl (MOE) gapmer, was approved by the Food and Drug Administration (FDA) for the treatment of homozygous familial hypercholesterolemia (HoFH) in 2013. Volanesorsen, another 20-mer MOE gapmer has shown to be successful in low …
Mipomersen (trade name Kynamro), a 2'-O-methoxyethyl (MOE) gapmer, was approved by the Food and Drug Administration (FDA) for the treatment …
Volanesorsen in the Treatment of Familial Chylomicronemia Syndrome or Hypertriglyceridaemia: Design, Development and Place in Therapy.
Esan O, Wierzbicki AS. Esan O, et al. Drug Des Devel Ther. 2020 Jul 6;14:2623-2636. doi: 10.2147/DDDT.S224771. eCollection 2020. Drug Des Devel Ther. 2020. PMID: 32753844 Free PMC article. Review.
There are few current options for its long-term management. The only universal long-term therapy is restriction of total dietary fat intake to <10-15% of daily calories (15 to 20g per day). ...Other genetic syndromes associated with hypertriglyceridaemia include fami …
There are few current options for its long-term management. The only universal long-term therapy is restriction of total dietary fat …
The Chylomicronemia Syndrome Is Most Often Multifactorial: A Narrative Review of Causes and Treatment.
Chait A, Eckel RH. Chait A, et al. Ann Intern Med. 2019 May 7;170(9):626-634. doi: 10.7326/M19-0203. Epub 2019 Apr 30. Ann Intern Med. 2019. PMID: 31035285 Review.
It may result from 1 of 3 conditions: the presence of secondary forms of hypertriglyceridemia concurrent with genetic causes of hypertriglyceridemia, termed multifactorial chylomicronemia syndrome (MFCS); a deficiency in the enzyme lipoprotein lipase and some associated proteins, …
It may result from 1 of 3 conditions: the presence of secondary forms of hypertriglyceridemia concurrent with genetic causes of hypertriglyc …
Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies.
Hartinger R, Lederer EM, Schena E, Lattanzi G, Djabali K. Hartinger R, et al. Cells. 2023 May 9;12(10):1350. doi: 10.3390/cells12101350. Cells. 2023. PMID: 37408186 Free PMC article.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease that causes premature aging symptoms, such as vascular diseases, lipodystrophy, loss of bone mineral density, and alopecia. HGPS is mostly linked to a heterozygous and de novo mutation in the LMNA gene ( …
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease that causes premature aging symptoms, such as vascular diseases, li …
Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).
Mosbah H, Donadille B, Vatier C, Janmaat S, Atlan M, Badens C, Barat P, Béliard S, Beltrand J, Ben Yaou R, Bismuth E, Boccara F, Cariou B, Chaouat M, Charriot G, Christin-Maitre S, De Kerdanet M, Delemer B, Disse E, Dubois N, Eymard B, Fève B, Lascols O, Mathurin P, Nobécourt E, Poujol-Robert A, Prevost G, Richard P, Sellam J, Tauveron I, Treboz D, Vergès B, Vermot-Desroches V, Wahbi K, Jéru I, Vantyghem MC, Vigouroux C. Mosbah H, et al. Orphanet J Rare Dis. 2022 Apr 19;17(Suppl 1):170. doi: 10.1186/s13023-022-02308-7. Orphanet J Rare Dis. 2022. PMID: 35440056 Free PMC article.
Dunnigan syndrome, or Familial Partial Lipodystrophy type 2 (FPLD2; ORPHA 2348), is a rare autosomal dominant disorder due to pathogenic variants of the LMNA gene. ...Overall, the management of patients with Dunnigan syndrome requires the collaboration of sev …
Dunnigan syndrome, or Familial Partial Lipodystrophy type 2 (FPLD2; ORPHA 2348), is a rare autosomal dominant disorder …
A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.
Agostini M, Schoenmakers E, Beig J, Fairall L, Szatmari I, Rajanayagam O, Muskett FW, Adams C, Marais AD, O'Rahilly S, Semple RK, Nagy L, Majithia AR, Schwabe JWR, Blom DJ, Murphy R, Chatterjee K, Savage DB. Agostini M, et al. Diabetes. 2018 Jun;67(6):1086-1092. doi: 10.2337/db17-1236. Epub 2018 Apr 5. Diabetes. 2018. PMID: 29622583 Free PMC article.
Loss-of-function mutations in PPARG cause familial partial lipodystrophy type 3 (FPLD3) and severe metabolic disease in many patients. ...These observations indicate that detailed structural and functional classification can be used to inform therapeutic …
Loss-of-function mutations in PPARG cause familial partial lipodystrophy type 3 (FPLD3) and severe metabolic disease in …
Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.
Sekizkardes H, Cochran E, Malandrino N, Garg A, Brown RJ. Sekizkardes H, et al. J Clin Endocrinol Metab. 2019 Aug 1;104(8):3068-3076. doi: 10.1210/jc.2018-02787. J Clin Endocrinol Metab. 2019. PMID: 31194872 Free PMC article.
CONTEXT: Familial partial lipodystrophy (FPLD) is most commonly caused by pathogenic variants in LMNA and PPARG. ...DESIGN: Subgroup analysis of a prospective open-label study of metreleptin in lipodystrophy. SETTING: National Institutes of Health, Bet …
CONTEXT: Familial partial lipodystrophy (FPLD) is most commonly caused by pathogenic variants in LMNA and PPARG. ...DES …
Genetic basis of lipodystrophies and management of metabolic complications.
Agarwal AK, Garg A. Agarwal AK, et al. Annu Rev Med. 2006;57:297-311. doi: 10.1146/annurev.med.57.022605.114424. Annu Rev Med. 2006. PMID: 16409151 Review.
Among genetic lipodystrophies, fat loss is observed either from birth, as in congenital generalized lipodystrophy, or later in life, as in familial partial lipodystrophy. ...We discuss features of autosomal recessive and dominant types of lipodystrophi …
Among genetic lipodystrophies, fat loss is observed either from birth, as in congenital generalized lipodystrophy, or later in life, …
Clinical Utility Gene Card for: Familial partial lipodystrophy.
Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O. Jéru I, et al. Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.102. Epub 2016 Aug 3. Eur J Hum Genet. 2017. PMID: 27485410 Free PMC article. No abstract available.
18 results