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Literature DB >> 27485410

Clinical Utility Gene Card for: Familial partial lipodystrophy.

Isabelle Jéru^1,2,3, Camille Vatier^4,2,3, David Araujo-Vilar⁵, Corinne Vigouroux^1,4,2,3, Olivier Lascols^1,2,3.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2016 PMID： 27485410 PMCID： PMC5255941 DOI： 10.1038/ejhg.2016.102

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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20 in total

1. 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

2. The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.

Authors: Petra Muschke; Uwe Kölsch; Sibylle Jakubiczka; Ilse Wieland; Thomas Brune; Peter Wieacker
Journal: Am J Med Genet A Date: 2007-12-01 Impact factor: 2.802

3. Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.

Authors: D A Dyment; W T Gibson; L Huang; H Bassyouni; R A Hegele; A M Innes
Journal: Eur J Med Genet Date: 2014-06-28 Impact factor: 2.708

4. A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A.

Authors: Caroline Le Dour; Stéphane Schneebeli; Fawzi Bakiri; Françoise Darcel; Marie-Line Jacquemont; Marie-Anne Maubert; Martine Auclair; Dorota Jeziorowska; Yves Reznik; Véronique Béréziat; Jacqueline Capeau; Olivier Lascols; Corinne Vigouroux
Journal: J Clin Endocrinol Metab Date: 2011-02-23 Impact factor: 5.958

5. Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3.

Authors: Konstanze Miehle; Joseph Porrmann; Diana Mitter; Michael Stumvoll; Christiane Glaser; Mathias Fasshauer; Katrin Hoffmann
Journal: Clin Endocrinol (Oxf) Date: 2015-07-31 Impact factor: 3.478

6. Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.

Authors: C Vigouroux; J Magré; M C Vantyghem; C Bourut; O Lascols; S Shackleton; D J Lloyd; B Guerci; G Padova; P Valensi; A Grimaldi; R Piquemal; P Touraine; R C Trembath; J Capeau
Journal: Diabetes Date: 2000-11 Impact factor: 9.461

Review 7. Genetic and physiological insights into the metabolic syndrome.

Authors: Robert A Hegele; Rebecca L Pollex
Journal: Am J Physiol Regul Integr Comp Physiol Date: 2005-05-12 Impact factor: 3.619

8. Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

Authors: Julia Rankin; Michaela Auer-Grumbach; Warwick Bagg; Kevin Colclough; Thuy Duong Nguyen; Jane Fenton-May; Andrew Hattersley; Judith Hudson; Philip Jardine; Dragana Josifova; Cheryl Longman; Robert McWilliam; Katharine Owen; Mark Walker; Manfred Wehnert; Sian Ellard
Journal: Am J Med Genet A Date: 2008-06-15 Impact factor: 2.802

9. Köbberling type of familial partial lipodystrophy: an underrecognized syndrome.

Authors: Karen L Herbst; Lisa R Tannock; Samir S Deeb; Jonathan Q Purnell; John D Brunzell; Alan Chait
Journal: Diabetes Care Date: 2003-06 Impact factor: 19.112

10. A family with severe insulin resistance and diabetes due to a mutation in AKT2.

Authors: Stella George; Justin J Rochford; Christian Wolfrum; Sarah L Gray; Sven Schinner; Jenny C Wilson; Maria A Soos; Peter R Murgatroyd; Rachel M Williams; Carlo L Acerini; David B Dunger; David Barford; A Margot Umpleby; Nicholas J Wareham; Huw Alban Davies; Alan J Schafer; Markus Stoffel; Stephen O'Rahilly; Inês Barroso
Journal: Science Date: 2004-05-28 Impact factor: 47.728

8 in total

1. Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort.

Authors: Nevin Ajluni; Rasimcan Meral; Adam H Neidert; Graham F Brady; Eric Buras; Barbara McKenna; Frank DiPaola; Thomas L Chenevert; Jeffrey F Horowitz; Colleen Buggs-Saxton; Amit R Rupani; Peedikayil E Thomas; Marwan K Tayeh; Jeffrey W Innis; M Bishr Omary; Hari Conjeevaram; Elif A Oral
Journal: Clin Endocrinol (Oxf) Date: 2017-03-27 Impact factor: 3.478

Review 2. Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities.

Authors: Baris Akinci; Rasimcan Meral; Elif Arioglu Oral
Journal: Curr Diab Rep Date: 2018-11-08 Impact factor: 4.810

3. Approach to the Patient With Lipodystrophy.

Authors: Lindsay T Fourman; Steven K Grinspoon
Journal: J Clin Endocrinol Metab Date: 2022-05-17 Impact factor: 6.134

4. A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.

Authors: Marjoleine F Broekema; Maarten P G Massink; Joep De Ligt; Edwin C A Stigter; Houshang Monajemi; Jeroen De Ridder; Boudewijn M T Burgering; Gijs W van Haaften; Eric Kalkhoven
Journal: Front Physiol Date: 2018-09-26 Impact factor: 4.566

Review 5. Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

Authors: Samim Özen; Barış Akıncı; Elif A. Oral
Journal: J Clin Res Pediatr Endocrinol Date: 2019-08-22