Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.
Cells
Fernandez-Pombo, Antia A; Diaz-Lopez, Everardo Josue EJ; Castro, Ana I AI; Sanchez-Iglesias, Sofia S; Cobelo-Gomez, Silvia S; Prado-Moraña, Teresa T; Araujo-Vilar, David D
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: LMNA: 1445G>A; Arg482Gln
Lamin A/C phosphorylation at serine 22 is a conserved heat shock response to regulate nuclear adaptation during stress.
Journal Of Cell Science
Virtanen, Laura L; Holm, Emilia E; Halme, Mona M; West, Gun G; Lindholm, Fanny F; Gullmets, Josef J; Irjala, Juho J; Heliö, Tiina T; Padzik, Artur A; Meinander, Annika A; Eriksson, John E JE; Taimen, Pekka P
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.
Genetics And Molecular Biology
Campos, Julliane Tamara Araújo de Melo JTAM; Oliveira, Matheus Sena de MS; Soares, Luisa Pessoa LP; Medeiros, Katarina Azevedo de KA; Campos, Leonardo René Dos Santos LRDS; Lima, Josivan Gomes JG
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Nature Communications
Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA
Describing the natural history of clinical, biochemical and radiological outcomes of children with familial partial lipodystrophy type 2 (FPLD2) from the United Kingdom: A retrospective case series.
Clinical Endocrinology
Zhong, Zhu Xuan ZX; Harris, Julie J; Wilber, Ellen E; Gorman, Samantha S; Savage, David B DB; O'Rahilly, Stephen S; Stears, Anna A; Williams, Rachel M RM
Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.
Diagnostics (Basel, Switzerland)
Rutkowska, Lena L; Salachna, Dominik D; Lewandowski, Krzysztof K; Lewiński, Andrzej A; Gach, Agnieszka A
Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).
Orphanet Journal Of Rare Diseases
Mosbah, H H; Donadille, B B; Vatier, C C; Janmaat, S S; Atlan, M M; Badens, C C; Barat, P P; Béliard, S S; Beltrand, J J; Ben Yaou, R R; Bismuth, E E; Boccara, F F; Cariou, B B; Chaouat, M M; Charriot, G G; Christin-Maitre, S S; De Kerdanet, M M; Delemer, B B; Disse, E E; Dubois, N N; Eymard, B B; Fève, B B; Lascols, O O; Mathurin, P P; Nobécourt, E E; Poujol-Robert, A A; Prevost, G G; Richard, P P; Sellam, J J; Tauveron, I I; Treboz, D D; Vergès, B B; Vermot-Desroches, V V; Wahbi, K K; Jéru, I I; Vantyghem, M C MC; Vigouroux, C C
Genomic loci mispositioning in Tmem120a knockout mice yields latent lipodystrophy.
Nature Communications
Czapiewski, Rafal R; Batrakou, Dzmitry G DG; de Las Heras, Jose I JI; Carter, Roderick N RN; Sivakumar, Aishwarya A; Sliwinska, Magdalena M; Dixon, Charles R CR; Webb, Shaun S; Lattanzi, Giovanna G; Morton, Nicholas M NM; Schirmer, Eric C EC
Genomic loci mispositioning in Tmem120a knockout mice yields latent lipodystrophy.
Nature Communications
Czapiewski, Rafal R; Batrakou, Dzmitry G DG; de Las Heras, Jose I JI; Carter, Roderick N RN; Sivakumar, Aishwarya A; Sliwinska, Magdalena M; Dixon, Charles R CR; Webb, Shaun S; Lattanzi, Giovanna G; Morton, Nicholas M NM; Schirmer, Eric C EC
Harmonizing variant classification for return of results in the All of Us Research Program.
Human Mutation
Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL
Publication Date: 2022-08
Variant appearance in text: LMNA: 1445G>A; Arg482Gln
Selective targeting of angiopoietin-like 3 (ANGPTL3) with vupanorsen for the treatment of patients with familial partial lipodystrophy (FPLD): results of a proof-of-concept study.
Lipids In Health And Disease
Foss-Freitas, Maria C MC; Akinci, Baris B; Neidert, Adam A; Bartlett, Victoria J VJ; Hurh, Eunju E; Karwatowska-Prokopczuk, Ewa E; Oral, Elif A EA
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Nature Communications
Goodrich, Julia K JK; Singer-Berk, Moriel M; Son, Rachel R; Sveden, Abigail A; Wood, Jordan J; England, Eleina E; Cole, Joanne B JB; Weisburd, Ben B; Watts, Nick N; Caulkins, Lizz L; Dornbos, Peter P; Koesterer, Ryan R; Zappala, Zachary Z; Zhang, Haichen H; Maloney, Kristin A KA; Dahl, Andy A; Aguilar-Salinas, Carlos A CA; Atzmon, Gil G; Barajas-Olmos, Francisco F; Barzilai, Nir N; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Bowden, Donald W DW; Centeno-Cruz, Federico F; Chambers, John C JC; Chami, Nathalie N; Chan, Edmund E; Chan, Juliana J; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; DeFronzo, Ralph A RA; Duggirala, Ravindranath R; Dupuis, Josée J; Garay-Sevilla, Ma Eugenia ME; García-Ortiz, Humberto H; Gieger, Christian C; Glaser, Benjamin B; González-Villalpando, Clicerio C; Gonzalez, Ma Elena ME; Grarup, Niels N; Groop, Leif L; Gross, Myron M; Haiman, Christopher C; Han, Sohee S; Hanis, Craig L CL; Hansen, Torben T; Heard-Costa, Nancy L NL; Henderson, Brian E BE; Hernandez, Juan Manuel Malacara JMM; Hwang, Mi Yeong MY; Islas-Andrade, Sergio S; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kim, Bong-Jo BJ; Kim, Young Jin YJ; Koistinen, Heikki A HA; Kooner, Jaspal Singh JS; Kuusisto, Johanna J; Kwak, Soo-Heon SH; Laakso, Markku M; Lange, Leslie L; Lee, Jong-Young JY; Lee, Juyoung J; Lehman, Donna M DM; Linneberg, Allan A; Liu, Jianjun J; Loos, Ruth J F RJF; Lyssenko, Valeriya V; Ma, Ronald C W RCW; Martínez-Hernández, Angélica A; Meigs, James B JB; Meitinger, Thomas T; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morris, Andrew D AD; Morrison, Alanna C AC; Ng, Maggie C Y MCY; Nilsson, Peter M PM; O'Donnell, Christopher J CJ; Orozco, Lorena L; Palmer, Colin N A CNA; Park, Kyong Soo KS; Post, Wendy S WS; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Schurmann, Claudia C; Sim, Xueling X; Sladek, Rob R; Small, Kerrin S KS; So, Wing Yee WY; Spector, Timothy D TD; Strauch, Konstantin K; Strom, Tim M TM; Tai, E Shyong ES; Tam, Claudia H T CHT; Teo, Yik Ying YY; Thameem, Farook F; Tomlinson, Brian B; Tracy, Russell P RP; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tusié-Luna, Teresa T; van Dam, Rob M RM; Vasan, Ramachandran S RS; Wilson, James G JG; Witte, Daniel R DR; Wong, Tien-Yin TY; , ; Burtt, Noël P NP; Zaitlen, Noah N; McCarthy, Mark I MI; Boehnke, Michael M; Pollin, Toni I TI; Flannick, Jason J; Mercader, Josep M JM; O'Donnell-Luria, Anne A; Baxter, Samantha S; Florez, Jose C JC; MacArthur, Daniel G DG; Udler, Miriam S MS
Publication Date: 2021-06-09
Variant appearance in text: LMNA: 1445G>A; Arg482Gln
Adipocyte-Specific Deletion of Lamin A/C Largely Models Human Familial Partial Lipodystrophy Type 2.
Diabetes
Corsa, Callie A S CAS; Walsh, Carolyn M CM; Bagchi, Devika P DP; Foss Freitas, Maria C MC; Li, Ziru Z; Hardij, Julie J; Granger, Katrina K; Mori, Hiroyuki H; Schill, Rebecca L RL; Lewis, Kenneth T KT; Maung, Jessica N JN; Azaria, Ruth D RD; Rothberg, Amy E AE; Oral, Elif A EA; MacDougald, Ormond A OA
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene.
Journal Of Clinical Medicine
Araújo-Vilar, David D; Sánchez-Iglesias, Sofía S; Castro, Ana I AI; Cobelo-Gómez, Silvia S; Hermida-Ameijeiras, Álvaro Á; Rodríguez-Carnero, Gemma G; Casanueva, Felipe F FF; Fernández-Pombo, Antía A
LMNA Mutations G232E and R482L Cause Dysregulation of Skeletal Muscle Differentiation, Bioenergetics, and Metabolic Gene Expression Profile.
Genes
Ignatieva, Elena V EV; Ivanova, Oksana A OA; Komarova, Margarita Y MY; Khromova, Natalia V NV; Polev, Dmitrii E DE; Kostareva, Anna A AA; Sergushichev, Alexey A; Dmitrieva, Renata I RI
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.
Cells
Mosbah, Héléna H; Vatier, Camille C; Boccara, Franck F; Jéru, Isabelle I; Lascols, Olivier O; Vantyghem, Marie-Christine MC; Fève, Bruno B; Donadille, Bruno B; Sarrazin, Elisabeth E; Benabbou, Sophie S; Inamo, Jocelyn J; Ederhy, Stéphane S; Cohen, Ariel A; Neraud, Barbara B; Richard, Pascale P; Picard, Fabien F; Christin-Maitre, Sophie S; Redheuil, Alban A; Wahbi, Karim K; Vigouroux, Corinne C
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Human Genetics
Lessel, Ivana I; Chen, Mei-Jan MJ; Lüttgen, Sabine S; Arndt, Florian F; Fuchs, Sigrid S; Meien, Stefanie S; Thiele, Holger H; Jones, Julie R JR; Shaw, Brandon R BR; Crossman, David K DK; Nürnberg, Peter P; Korf, Bruce R BR; Kubisch, Christian C; Lessel, Davor D
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: LMNA: 1445G>A; Arg482Gln
Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning.
Experimental & Molecular Medicine
Pellegrini, Camilla C; Columbaro, Marta M; Schena, Elisa E; Prencipe, Sabino S; Andrenacci, Davide D; Iozzo, Patricia P; Angela Guzzardi, Maria M; Capanni, Cristina C; Mattioli, Elisabetta E; Loi, Manuela M; Araujo-Vilar, David D; Squarzoni, Stefano S; Cinti, Saverio S; Morselli, Paolo P; Giorgetti, Assuero A; Zanotti, Laura L; Gambineri, Alessandra A; Lattanzi, Giovanna G