Literature DB >> 15298354

Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene.

D B Savage, M A Soos, A Powlson, S O'Rahilly, I McFarlane, D J Halsall, I Barroso, E L Thomas, J D Bell, I Scobie, P E Belchetz, W F Kelly, A J Schafer.   

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Year:  2004        PMID： 15298354     DOI： 10.1007/s00125-004-1360-4

Source DB:  PubMed          Journal:  Diabetologia        ISSN： 0012-186X            Impact factor:   10.122


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  8 in total

1.  Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.

Authors:  R A Hegele; H Cao; C M Anderson; I M Hramiak
Journal:  J Clin Endocrinol Metab       Date:  2000-09       Impact factor: 5.958

2.  Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Authors:  G Bonne; E Mercuri; A Muchir; A Urtizberea; H M Bécane; D Recan; L Merlini; M Wehnert; R Boor; U Reuner; M Vorgerd; E M Wicklein; B Eymard; D Duboc; I Penisson-Besnier; J M Cuisset; X Ferrer; I Desguerre; D Lacombe; K Bushby; C Pollitt; D Toniolo; M Fardeau; K Schwartz; F Muntoni
Journal:  Ann Neurol       Date:  2000-08       Impact factor: 10.422

Review 3.  Life at the edge: the nuclear envelope and human disease.

Authors:  Brian Burke; Colin L Stewart
Journal:  Nat Rev Mol Cell Biol       Date:  2002-08       Impact factor: 94.444

4.  Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy.

Authors:  S N Jackson; T A Howlett; P G McNally; S O'Rahilly; R C Trembath
Journal:  QJM       Date:  1997-01

5.  Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.

Authors:  A Garg; M Vinaitheerthan; P T Weatherall; A M Bowcock
Journal:  J Clin Endocrinol Metab       Date:  2001-01       Impact factor: 5.958

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.  Lipodystrophies.

Authors:  A Garg
Journal:  Am J Med       Date:  2000-02       Impact factor: 4.965

8.  Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

Authors:  Giuseppe Novelli; Antoine Muchir; Federica Sangiuolo; Anne Helbling-Leclerc; Maria Rosaria D'Apice; Catherine Massart; Francesca Capon; Paolo Sbraccia; Massimo Federici; Renato Lauro; Cosimo Tudisco; Rosanna Pallotta; Gioacchino Scarano; Bruno Dallapiccola; Luciano Merlini; Gisèle Bonne
Journal:  Am J Hum Genet       Date:  2002-06-19       Impact factor: 11.025
  8 in total
  16 in total

Review 1.  Inner nuclear membrane proteins: impact on human disease.

Authors:  Iván Méndez-López; Howard J Worman
Journal:  Chromosoma       Date:  2012-02-04       Impact factor: 4.316

Review 2.  Nuclear mechanics in disease.

Authors:  Monika Zwerger; Chin Yee Ho; Jan Lammerding
Journal:  Annu Rev Biomed Eng       Date:  2011-08-15       Impact factor: 9.590

3.  The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Authors:  Miriam S Reuter; Susan Walker; Bhooma Thiruvahindrapuram; Joe Whitney; Iris Cohn; Neal Sondheimer; Ryan K C Yuen; Brett Trost; Tara A Paton; Sergio L Pereira; Jo-Anne Herbrick; Richard F Wintle; Daniele Merico; Jennifer Howe; Jeffrey R MacDonald; Chao Lu; Thomas Nalpathamkalam; Wilson W L Sung; Zhuozhi Wang; Rohan V Patel; Giovanna Pellecchia; John Wei; Lisa J Strug; Sherilyn Bell; Barbara Kellam; Melanie M Mahtani; Anne S Bassett; Yvonne Bombard; Rosanna Weksberg; Cheryl Shuman; Ronald D Cohn; Dimitri J Stavropoulos; Sarah Bowdin; Matthew R Hildebrandt; Wei Wei; Asli Romm; Peter Pasceri; James Ellis; Peter Ray; M Stephen Meyn; Nasim Monfared; S Mohsen Hosseini; Ann M Joseph-George; Fred W Keeley; Ryan A Cook; Marc Fiume; Hin C Lee; Christian R Marshall; Jill Davies; Allison Hazell; Janet A Buchanan; Michael J Szego; Stephen W Scherer
Journal:  CMAJ       Date:  2018-02-05       Impact factor: 8.262

4.  LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A.

Authors:  Yiping Tu; Sofía Sánchez-Iglesias; David Araújo-Vilar; Loren G Fong; Stephen G Young
Journal:  Nucleus       Date:  2016-09-02       Impact factor: 4.197

5.  Variants of the lamin A/C (LMNA) gene in non-valvular atrial fibrillation patients: a possible pathogenic role of the Thr528Met mutation.

Authors:  Michal Saj; Rafal Dabrowski; Sarah Labib; Agnieszka Jankowska; Malgorzata Szperl; Grazyna Broda; Hanna Szwed; Frederique Tesson; Zofia T Bilinska; Rafal Ploski
Journal:  Mol Diagn Ther       Date:  2012-04-01       Impact factor: 4.074

Review 6.  The cellular mastermind(?)-mechanotransduction and the nucleus.

Authors:  Ashley Kaminski; Gregory R Fedorchak; Jan Lammerding
Journal:  Prog Mol Biol Transl Sci       Date:  2014       Impact factor: 3.622

7.  Cytoplasmic localization of PML particles in laminopathies.

Authors:  F Houben; W H De Vos; I P C Krapels; M Coorens; G J J Kierkels; M A F Kamps; V L R M Verstraeten; C L M Marcelis; A van den Wijngaard; F C S Ramaekers; J L V Broers
Journal:  Histochem Cell Biol       Date:  2012-08-25       Impact factor: 4.304

Review 8.  Cellular mechanosensing: getting to the nucleus of it all.

Authors:  Gregory R Fedorchak; Ashley Kaminski; Jan Lammerding
Journal:  Prog Biophys Mol Biol       Date:  2014-07-05       Impact factor: 3.667

Review 9.  RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.

Authors:  Jian Liu; Scott Q Harper
Journal:  Curr Gene Ther       Date:  2012-08       Impact factor: 4.391

10.  Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.

Authors:  Robert K Semple; Alison Sleigh; Peter R Murgatroyd; Claire A Adams; Les Bluck; Sarah Jackson; Alessandra Vottero; Dipak Kanabar; Valentine Charlton-Menys; Paul Durrington; Maria A Soos; T Adrian Carpenter; David J Lomas; Elaine K Cochran; Phillip Gorden; Stephen O'Rahilly; David B Savage
Journal:  J Clin Invest       Date:  2009-01-26       Impact factor: 14.808
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