Literature DB >> 18793991

Lipodystrophy syndromes.

Pedro Herranz1, Raul de Lucas, Luis Pérez-España, Matias Mayor.   

Abstract

Lipodystrophy syndromes comprise a group of rare, heterogeneous disorders characterized by progressive loss of fat tissue, mainly from subcutaneous compartment and occasionally affecting visceral fat. Lipoatrophy may be partial, localized, or generalized. The latter cases are usually accompanied by metabolic-related disorders, including insulin resistance, diabetes mellitus, hyperlipemia, progressive hepatic disease and anabolic state. Treatment for lipodystrophy has increased interest in recent years because a new lipoatrophic population-patients who have HIV-associated lipodystrophy--is much more numerous than the whole number of patients affected by classic lipodystrophy entities.

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Mesh:

Year:  2008        PMID: 18793991      PMCID: PMC4947059          DOI: 10.1016/j.det.2008.05.004

Source DB:  PubMed          Journal:  Dermatol Clin        ISSN: 0733-8635            Impact factor:   3.478


  56 in total

1.  Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

Authors:  H Cao; R A Hegele
Journal:  Hum Mol Genet       Date:  2000-01-01       Impact factor: 6.150

2.  LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

Authors:  S Shackleton; D J Lloyd; S N Jackson; R Evans; M F Niermeijer; B M Singh; H Schmidt; G Brabant; S Kumar; P N Durrington; S Gregory; S O'Rahilly; R C Trembath
Journal:  Nat Genet       Date:  2000-02       Impact factor: 38.330

3.  Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.

Authors:  Savitha Shastry; Mauricio R Delgado; Eray Dirik; Mehmet Turkmen; Anil K Agarwal; Abhimanyu Garg
Journal:  Am J Med Genet A       Date:  2010-09       Impact factor: 2.802

4.  PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

Authors:  Anil K Agarwal; Chao Xing; George N DeMartino; Dario Mizrachi; Maria Dolores Hernandez; Ana Berta Sousa; Laura Martínez de Villarreal; Heloísa G dos Santos; Abhimanyu Garg
Journal:  Am J Hum Genet       Date:  2010-12-10       Impact factor: 11.025

5.  Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).

Authors:  A Garg
Journal:  J Clin Endocrinol Metab       Date:  2000-05       Impact factor: 5.958

6.  Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

Authors:  C A Kim; Marc Delépine; Emilie Boutet; Haquima El Mourabit; Soazig Le Lay; Muriel Meier; Mona Nemani; Etienne Bridel; Claudia C Leite; Debora R Bertola; Robert K Semple; Stephen O'Rahilly; Isabelle Dugail; Jacqueline Capeau; Mark Lathrop; Jocelyne Magré
Journal:  J Clin Endocrinol Metab       Date:  2008-01-22       Impact factor: 5.958

7.  HIV-protease inhibitors block the enzymatic activity of purified Ste24p.

Authors:  Sarah E Hudon; Catherine Coffinier; Susan Michaelis; Loren G Fong; Stephen G Young; Christine A Hrycyna
Journal:  Biochem Biophys Res Commun       Date:  2008-07-17       Impact factor: 3.575

Review 8.  Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature.

Authors:  Anoop Misra; Aparna Peethambaram; Abhimanyu Garg
Journal:  Medicine (Baltimore)       Date:  2004-01       Impact factor: 1.889

9.  Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

Authors:  Yukiko K Hayashi; Chie Matsuda; Megumu Ogawa; Kanako Goto; Kayo Tominaga; Satomi Mitsuhashi; Young-Eun Park; Ikuya Nonaka; Naomi Hino-Fukuyo; Kazuhiro Haginoya; Hisashi Sugano; Ichizo Nishino
Journal:  J Clin Invest       Date:  2009-08-10       Impact factor: 14.808

10.  Phenotype and course of Hutchinson-Gilford progeria syndrome.

Authors:  Melissa A Merideth; Leslie B Gordon; Sarah Clauss; Vandana Sachdev; Ann C M Smith; Monique B Perry; Carmen C Brewer; Christopher Zalewski; H Jeffrey Kim; Beth Solomon; Brian P Brooks; Lynn H Gerber; Maria L Turner; Demetrio L Domingo; Thomas C Hart; Jennifer Graf; James C Reynolds; Andrea Gropman; Jack A Yanovski; Marie Gerhard-Herman; Francis S Collins; Elizabeth G Nabel; Richard O Cannon; William A Gahl; Wendy J Introne
Journal:  N Engl J Med       Date:  2008-02-07       Impact factor: 91.245

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  14 in total

1.  Secondary causes of nonalcoholic fatty liver disease.

Authors:  Jacob M Kneeman; Joseph Misdraji; Kathleen E Corey
Journal:  Therap Adv Gastroenterol       Date:  2012-05       Impact factor: 4.409

Review 2.  Dynamics and functions of lipid droplets.

Authors:  James A Olzmann; Pedro Carvalho
Journal:  Nat Rev Mol Cell Biol       Date:  2019-03       Impact factor: 94.444

Review 3.  Acquired facial lipoatrophy: pathogenesis and therapeutic options.

Authors:  Aneta Szczerkowska-Dobosz; Barbara Olszewska; Małgorzata Lemańska; Dorota Purzycka-Bohdan; Roman Nowicki
Journal:  Postepy Dermatol Alergol       Date:  2015-03-30       Impact factor: 1.837

Review 4.  Lipid droplet-associated proteins in atherosclerosis (Review).

Authors:  Janeesh Plakkal Ayyappan; Antoni Paul; Young-Hwa Goo
Journal:  Mol Med Rep       Date:  2016-04-11       Impact factor: 2.952

Review 5.  Shortcuts to a functional adipose tissue: The role of small non-coding RNAs.

Authors:  Bruna B Brandão; Beatriz A Guerra; Marcelo A Mori
Journal:  Redox Biol       Date:  2017-02-07       Impact factor: 11.799

Review 6.  Long Distance Metabolic Regulation through Adipose-Derived Circulating Exosomal miRNAs: A Trail for RNA-Based Therapies?

Authors:  Farah Fatima; Muhammad Nawaz
Journal:  Front Physiol       Date:  2017-08-02       Impact factor: 4.566

7.  Berardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association.

Authors:  Ali A Alzu'bi; Khaldon K Al-Sarihin; Suzan Eteiwi; Rania A Al-Asaad; Abdallah A Al Eyadah; Maysa Khreisat; Ahmad A Al-Omari; Fares H Haddad
Journal:  Oman Med J       Date:  2020-06-30

8.  Canine lipomas treated with steroid injections: clinical findings.

Authors:  Barbara Lamagna; Adelaide Greco; Anna Guardascione; Luigi Navas; Manuela Ragozzino; Orlando Paciello; Arturo Brunetti; Leonardo Meomartino
Journal:  PLoS One       Date:  2012-11-30       Impact factor: 3.240

9.  Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy.

Authors:  Verônica Kristina Cândido Dantas; Joice da Silva Soares; Lázaro Batista de Azevedo Medeiros; Aquiles Sales Craveiro Sarmento; Thaiza Teixeira Xavier Nobre; Fábia Barbosa de Andrade; Josivan Gomes de Lima; Julliane Tamara Araújo de Melo Campos
Journal:  PLoS One       Date:  2018-06-04       Impact factor: 3.240

10.  Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy.

Authors:  Layth Mahdi; Allon Kahn; Radhika Dhamija; Hugo E Vargas
Journal:  ACG Case Rep J       Date:  2020-04-07
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