Collaborative ECLip publications

Collaborative publications between two or more ECLip groups

https://pubmed.ncbi.nlm.nih.gov/32890433/  
Evidence of ongoing complement activation on adipose tissue from an 11-year-old girl with Barraquer-Simons syndrome
 
J Dermatol. 2020 Sep 5.  
Fernando Corvillo, Pilar Nozal, Alberto López-Lera, María P De Miguel, Juan Alberto Piñero-Fernández, Raúl De Lucas, María D García-Concepción, María J Beato, David Araújo-Vilar, Margarita López-Trascasa  
PMID: 32890433
DOI: 10.1111/1346-8138.15570  

https://pubmed.ncbi.nlm.nih.gov/32913962/  
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation
 
J Endocr Soc. 2020 Aug 1; 4(10): bvaa108.
Silvia Magno
, Giovanni Ceccarini, Caterina Pelosini, Federica Ferrari, Flavia Prodam, Donatella Gilio, Margherita Maffei, Maria Rita Sessa, Andrea Barison, Annamaria Ciccarone, Michele Emdin, Gianluca Aimaretti, Ferruccio Santini
PMID: 32913962
PMCID:
PMC7474543
DOI:
10.1210/jendso/bvaa108  

https://pubmed.ncbi.nlm.nih.gov/32685188/
Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy
 
Clin Diabetes Endocrinol. 2020 Jul 14; 6: 13. Utku Erdem Soyaltin, Ilgin Yildirim Simsir, Baris Akinci, Canan Altay, Suleyman Cem Adiyaman, Kristen Lee, Huseyin Onay, Elif Arioglu Oral
PMID: 32685188

PMCID:
PMC7362519
DOI:
10.1186/s40842-020-00100-9      

https://pubmed.ncbi.nlm.nih.gov/32368944/
Diagnostic strategies and clinical management of lipodystrophy
 
Expert Rev Endocrinol Metab. 2020 Mar; 15(2): 95-114.
Maria C Foss-Freitas
, Baris Akinci, Yingying Luo, Andra Stratton, Elif A Oral
PMID: 32368944

DOI:
10.1080/17446651.2020.1735360  

https://pubmed.ncbi.nlm.nih.gov/32245113/  
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice
 
Cells. 2020 Mar 20; 9(3): 765.  
Héléna Mosbah, Camille Vatier, Franck Boccara, Isabelle Jéru, Olivier Lascols, Marie-Christine Vantyghem, Bruno Fève, Bruno Donadille, Elisabeth Sarrazin, Sophie Benabbou, Jocelyn Inamo, Stéphane Ederhy, Ariel Cohen, Barbara Neraud, Pascale Richard, Fabien Picard, Sophie Christin-Maitre, Alban Redheuil, Karim Wahbi, Corinne Vigouroux
PMID: 32245113

PMCID:
PMC7140635
DOI:
10.3390/cells9030765

https://pubmed.ncbi.nlm.nih.gov/32201029/  
Cardiovascular complications of lipodystrophic syndromes - focus on laminopathies  
Ann Endocrinol (Paris). 2020 Mar 4; S0003-4266(20)30037-8.  
Helena Mosbah, Camille Vatier, Franck Boccara, Isabelle Jéru, Marie-Christine Vantyghem, Bruno Donadille, Karim Wahbi, Corinne Vigouroux
PMID: 32201029

DOI:
10.1016/j.ando.2020.03.002

https://pubmed.ncbi.nlm.nih.gov/32117065/  
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease
 
Front Endocrinol (Lausanne). 2020 Feb 14; 11:39.  
Giovanni Ceccarini, Silvia Magno, Caterina Pelosini, Federica Ferrari, Maria Rita Sessa, Gaia Scabia, Margherita Maffei, Isabelle Jéru, Olivier Lascols, Corinne Vigouroux, Ferruccio Santini
PMID: 32117065

PMCID: PMC7034310
DOI:
10.3389/fendo.2020.00039

https://pubmed.ncbi.nlm.nih.gov/31941540/  
European lipodystrophy registry: background and structure
 
Orphanet J Rare Dis. 2020 Jan 15; 15(1): 17.  
Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D'Apice, Alessandra Gambineri, Raoul C M Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B Savage, Paolo Sbraccia, Jannik Schaaf, Ekaterina Sorkina, George Tanteles, Marie-Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Elena Vorona, David Araújo-Vilar, Martin Wabitsch
PMID: 31941540

PMCID: PMC6964101
DOI:
10.1186/s13023-020-1295-y  

https://pubmed.ncbi.nlm.nih.gov/31504636/  
Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy
 
J Clin Endocrinol Metab. 2019 Dec 1; 104(12): 6025-6032.  
Isabelle Jéru, Marie-Christine Vantyghem, Elise Bismuth, Pascale Cervera, Sara Barraud, PLIN1-Study Group; Martine Auclair, Camille Vatier, Olivier Lascols, David B Savage, Corinne Vigouroux
PMID: 31504636

PMCID:
PMC6916795
DOI:
10.1210/jc.2019-00849

https://pubmed.ncbi.nlm.nih.gov/30287275/  
Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation
 
Diabetes Metab. 2019 Sep; 45(4): 382-389.  
M Kwapich, D Lacroix, S Espiard, S Ninni, F Brigadeau, C Kouakam, P Degroote, J M Laurent, V Tiffreau, A Jannin, L Humbert, A Ben Hamou, C Tard, R Ben Yaou, N Lamblin, D Klug, P Richard, C Vigouroux, G Bonne, M C Vantyghem, Diamenord–AEDNL Working Group
PMID: 30287275

DOI: 10.1016/j.diabet.2018.09.006

https://pubmed.ncbi.nlm.nih.gov/31375660/  
Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning
 
Exp Mol Med 2019 Aug 2; 51(8): 1-17.  
Camilla Pellegrini, Marta Columbaro, Elisa Schena, Sabino Prencipe, Davide Andrenacci, Patricia Iozzo, Maria Angela Guzzardi, Cristina Capanni, Elisabetta Mattioli, Manuela Loi, David Araujo-Vilar, Stefano Squarzoni, Saverio Cinti, Paolo Morselli, Assuero Giorgetti, Laura Zanotti, Alessandra Gambineri, Giovanna Lattanzi
PMID: 31375660

PMCID:
PMC6802660
DOI:
10.1038/s12276-019-0289-0  

https://pubmed.ncbi.nlm.nih.gov/31300002/  
Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes
 
Orphanet J Rare Dis. 2019 Jul 12; 14(1): 177.  
Camille Vatier, Dina Kalbasi, Marie-Christine Vantyghem, Olivier Lascols, Isabelle Jéru, Anne Daguenel, Jean-François Gautier, Marion Buyse, Corinne Vigouroux
PMID: 31300002

PMCID:
PMC6626409
DOI:
10.1186/s13023-019-1141-2  

https://pubmed.ncbi.nlm.nih.gov/30805888/  
Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy
 
Endocrine. 2019 Jun; 64(3): 500-511.  
Elif A Oral, Phillip Gorden, Elaine Cochran, David Araújo-Vilar, David B Savage, Alison Long, Gregory Fine, Taylor Salinardi, Rebecca J Brown
PMID: 30805888

PMCID:
PMC7340120
DOI:
10.1007/s12020-019-01862-8  

https://pubmed.ncbi.nlm.nih.gov/30903322/  
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
 
Neurogenetics. 2019 May; 20(2): 73-82.  
Sofía Sánchez-Iglesias, Melissa Crocker, Mar O'Callaghan, Alejandra Darling, Angels García-Cazorla, Rosario Domingo-Jiménez, Ana Castro, Antía Fernández-Pombo, Álvaro Ruibal, Pablo Aguiar, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Julián Álvarez-Escudero, Rebecca J Brown, David Araújo-Vilar
PMID: 30903322
PMCID:
PMC7288395
DOI:
10.1007/s10048-019-00574-5

https://pubmed.ncbi.nlm.nih.gov/30296183/  
Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases
 
Curr Med Res Opin. 2019 Mar; 35(3): 543-552.  
Camille Vatier, Marie-Christine Vantyghem, Caroline Storey, Isabelle Jéru, Sophie Christin-Maitre, Bruno Fève, Olivier Lascols, Jacques Beltrand, Jean-Claude Carel, Corinne Vigouroux, Elise Bismuth
PMID: 30296183

DOI: 10.1080/03007995.2018.1533459

https://pubmed.ncbi.nlm.nih.gov/29704234/  
Diagnosis and treatment of lipodystrophy: a step-by-step approach
 
J Endocrinol Invest. 2019 Jan; 42(1): 61-73.
D Araújo-Vilar, F Santini
PMID: 29704324
PMCID: PMC6304182
DOI:
10.1007/s40618-018-0887-z

https://pubmed.ncbi.nlm.nih.gov/30165155/  
Irisin levels in LMNA-associated partial lipodystrophies  
Diabetes Metab. 2019 Jan; 45(1): 67-75.
F Bensmaïne, K Benomar, S Espiard, C Vahe, K Le Mapihan, G Lion, M Lemdani, E Chazard, O Ernst, C Vigouroux, P Pigny, M-C Vantyghem
PMID: 30165155
DOI:
10.1016/j.diabet.2018.08.003

https://pubmed.ncbi.nlm.nih.gov/30719953/  
Laminopathies
 
Nucleus 2018; 9(1): 543-544.  
Giovanna Lattanzi, Lorenzo Maggi, David Araujo-Vilar
PMID: 30719953

PMCID:
PMC7000148
DOI:
10.1080/19491034.2018.1515606  

https://pubmed.ncbi.nlm.nih.gov/30283460/  
Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy
 
Front Immunol. 2018 Sep 19; 9: 2142.  
Fernando Corvillo, Verónica Aparicio, Alberto López-Lera, Sofía Garrido, David Araújo-Vilar, María P de Miguel, Margarita López-Trascasa
PMID: 30283460

PMCID:
PMC6156147
DOI:
10.3389/fimmu.2018.02142    

https://pubmed.ncbi.nlm.nih.gov/29644599/  
Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy
 
Endocrine. 2018 Jun; 60(3): 479-489.  
Rebecca J Brown, Elif A Oral, Elaine Cochran, David Araújo-Vilar, David B Savage, Alison Long, Gregory Fine, Taylor Salinardi, Phillip Gorden
PMID: 29644599

PMCID: PMC5936645
DOI:
10.1007/s12020-018-1589-1  

https://pubmed.ncbi.nlm.nih.gov/29438482/  
The lipodystrophic hotspot lamin A p.R482W mutation deregulates the mesodermal inducer T/Brachyury and early vascular differentiation gene networks
 
Hum Mol Genet. 2018 Apr 15; 27(8): 1447-1459.  
Nolwenn Briand, Anne-Claire Guénantin, Dorota Jeziorowska, Akshay Shah, Matthieu Mantecon, Emilie Capel, Marie Garcia, Anja Oldenburg, Jonas Paulsen, Jean-Sebastien Hulot, Corinne Vigouroux, Philippe Collas
PMID: 29438482

DOI:
10.1093/hmg/ddy055

https://pubmed.ncbi.nlm.nih.gov/29267953/
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation
 
J Clin Endocrinol Metab. 2018 Mar 1; 103(3): 1005-1014.
Iram Hussain, Nivedita Patni, Masako Ueda, Ekaterina Sorkina, Cynthia M Valerio, Elaine Cochran, Rebecca J Brown, Joseph Peeden, Yulia Tikhonovich, Anatoly Tiulpakov, Sarah R S Stender, Elisabeth Klouda, Marwan K Tayeh, Jeffrey W Innis, Anders Meyer, Priti Lal, Amelio F Godoy-Matos, Milena G Teles, Beverley Adams-Huet, Daniel J Rader, Robert A Hegele, Elif A Oral, Abhimanyu Garg
PMID: 29267953

PMCID:
PMC6283411
DOI:
10.1210/jc.2017-02078  

https://pubmed.ncbi.nlm.nih.gov/29208544/
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing
 
Ageing Res Rev. 2018 Mar; 42: 1-13.
Vittoria Cenni
, Maria Rosaria D'Apice, Paolo Garagnani, Marta Columbaro, Giuseppe Novelli, Claudio Franceschi, Giovanna Lattanzi
PMID: 29208544

DOI:
10.1016/j.arr.2017.12.001  

https://pubmed.ncbi.nlm.nih.gov/29066925/  
Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges
 
Diabetes Metab Syndr Obes. 2017 Sep 13; 10: 375-383.  
Elaine Chiquette, Elif A Oral, Abhimanyu Garg, David Araújo-Vilar, Praveen Dhankhar
PMID: 29066925
PMCID: PMC5604558
DOI:
10.2147/DMSO.S130810    

https://pubmed.ncbi.nlm.nih.gov/28408391/  
LMNA-associated partial lipodystrophy: anticipation of metabolic complications  
J Med Genet. 2017 Jun; 54(6): 413-416.  
Isabelle Jeru, Camille Vatier, Marie-Christine Vantyghem, Olivier Lascols, Corinne Vigouroux
PMID: 28408391
DOI:
10.1136/jmedgenet-2016-104437

https://pubmed.ncbi.nlm.nih.gov/27692500/  
One-year metreleptin therapy decreases PCSK9 serum levels in diabetic patients with monogenic lipodystrophy syndromes  
Diabetes Metab. 2017 Jun; 43(3): 275-279.  
C Vatier, L Arnaud, X Prieur, B Guyomarch, C Le May, E Bigot, M Pichelin, A Daguenel, M-C Vantyghem, J-F Gautier, C Vigouroux, B Cariou
PMID: 27692500

DOI:
10.1016/j.diabet.2016.08.004

https://pubmed.ncbi.nlm.nih.gov/28414270/  
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
 
Elife. 2017 Apr 19; 6: e23813.  
Nuno Rocha, David A Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew Page, Julie Harris, Felicity Payne, Claire Adams, Alison Sleigh, John Crawford, Anette Prior Gjesing, Jette Bork-Jensen, Oluf Pedersen, Inês Barroso, Torben Hansen, Helen Cox, Mary Reilly, Alex Rossor, Rebecca J Brown, Simeon I Taylor, Duncan McHale, Martin Armstrong, Elif A Oral, Vladimir Saudek, Stephen O'Rahilly, Eamonn R Maher, Bjørn Richelsen, David B Savage, Robert K Semple
PMID: 28414270

PMCID:
PMC5422073
DOI:
10.7554/eLife.23813

https://pubmed.ncbi.nlm.nih.gov/27485410/  
Clinical Utility Gene Card for: Familial partial lipodystrophy
 
Eur J Hum Genet. 2017 Feb; 25(2).  
Isabelle Jéru, Camille Vatier, David Araujo-Vilar, Corinne Vigouroux, Olivier Lascols
PMID: 27485410

PMCID:
PMC5255941
DOI:
10.1038/ejhg.2016.102

https://pubmed.ncbi.nlm.nih.gov/27710244/  
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline
 
J Clin Endocrinol Metab. 2016 Dec; 101(12): 4500-4511.  
Rebecca J Brown, David Araujo-Vilar, Pik To Cheung, David Dunger, Abhimanyu Garg, Michelle Jack, Lucy Mungai, Elif A Oral, Nivedita Patni, Kristina I Rother, Julia von Schnurbein, Ekaterina Sorkina, Takara Stanley, Corinne Vigouroux, Martin Wabitsch, Rachel Williams, Tohru Yorifuji
PMID: 27710244

PMCID:
PMC5155679
DOI:
10.1210/jc.2016-2466  

https://pubmed.ncbi.nlm.nih.gov/27334370/
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation
 
J Med Genet. 2016 Nov; 53(11): 776-785.
Clara Soria-Valles
, Dido Carrero, Elisabeth Gabau, Gloria Velasco, Víctor Quesada, Clea Bárcena, Marleen Moens, Karen Fieggen, Silvia Möhrcken, Martina Owens, Diana A Puente, Óscar Asensio, Bart Loeys, Ana Pérez, Valerie Benoit, Wim Wuyts, Nicolas Lévy, Raoul C Hennekam, Annachiara De Sandre-Giovannoli, Carlos López-Otín
PMID: 27334370

DOI:
10.1136/jmedgenet-2015-103695  

https://pubmed.ncbi.nlm.nih.gov/27189019/  
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy  
Eur J Hum Genet. 2016 Nov; 24(11).  
Isabelle Jéru, Camille Vatier, David Araujo-Vilar, Corinne Vigouroux, Olivier Lascols
PMID: 27189019

PMCID:
PMC5110052
DOI:
10.1038/ejhg.2016.53          

https://pubmed.ncbi.nlm.nih.gov/26756202/  
Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -
γ (PPARG) mutatio