Cargando…

A subtype of laminopathies: Generalized lipodystrophy‐associated progeroid syndrome caused by LMNA gene c.29C>T mutation

The term laminopathies refers to a group of congenital diseases characterized by accelerated degeneration of human tissues. Mutations in LMNA, LMNB, ZMPSTE24, and other genes lead to structural and functional abnormalities associated with lamins. One subtype of laminopathy is the generalized lipodys...

Descripción completa

Detalles Bibliográficos
Autores principales:	Huang, Shipeng, Zhang, Yan, Zhan, Zuan, Gong, Shuhao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512909/ https://www.ncbi.nlm.nih.gov/pubmed/37448194 http://dx.doi.org/10.1111/jdi.14055

Ejemplares similares

Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C
por: Starke, Sven, et al.
Publicado: (2013)

Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation
por: Magno, Silvia, et al.
Publicado: (2020)

Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant
por: Hussain, Iram, et al.
Publicado: (2020)

Embryonic Senescence and Laminopathies in a Progeroid Zebrafish Model
por: Koshimizu, Eriko, et al.
Publicado: (2011)

Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations
por: Kandhaya-Pillai, Renuka, et al.
Publicado: (2020)

Severe aortic stenosis during leptin replacement therapy in a patient with generalized lipodystrophy‐associated progeroid syndrome due to an LMNA variant: A case report
por: Sasako, Takayoshi, et al.
Publicado: (2022)

Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis
por: Sahinoz, Melis, et al.
Publicado: (2018)

Metreleptin therapy in LMNA-linked lipodystrophies
por: Vatier, Camille, et al.
Publicado: (2015)

Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation
por: Fountas, Athanasios, et al.
Publicado: (2017)

Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis
por: Yukina, Marina, et al.
Publicado: (2021)

Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit
por: Chen, Mao, et al.
Publicado: (2018)

Disheveled Hair and Ear (Dhe), a Spontaneous Mouse Lmna Mutation Modeling Human Laminopathies
por: Odgren, Paul R., et al.
Publicado: (2010)

Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients
por: Cho, Sangkyun, et al.
Publicado: (2022)

Low and High Expressing Alleles of the LMNA Gene: Implications for Laminopathy Disease Development
por: Rodríguez, Sofía, et al.
Publicado: (2011)

A truncated lamin A in the Lmna(−/−) mouse line: Implications for the understanding of laminopathies
por: Jahn, Daniel, et al.
Publicado: (2012)

Challenging the “chromatin hypothesis” of cardiac laminopathies with LMNA mutant iPS cells
por: Mozzetta, Chiara, et al.
Publicado: (2019)

Novel Heterozygous LMNA Variants Causing Familial Partial Lipodystrophy, Dunnigan Variety
por: Wadhwa, Akhilesh, et al.
Publicado: (2021)

Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations
por: Steele-Stallard, Heather B., et al.
Publicado: (2018)

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome
por: Schrauwen, Isabelle, et al.
Publicado: (2015)

Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy
por: Mahdi, Layth, et al.
Publicado: (2020)

Partial Lipodystrophy and LMNA p.R545H Variant
por: Magno, Silvia, et al.
Publicado: (2021)

SAT-087 Familial Generalized Lipodystrophy in Two Siblings Due to Homozygous p.Arg545His LMNA Mutation
por: Patni, Nivedita, et al.
Publicado: (2019)

Mitochondrial dysfunction in mandibular hypoplasia, deafness and progeroid features with concomitant lipodystrophy (MDPL) patients
por: Murdocca, Michela, et al.
Publicado: (2022)

LBODP030 A Rare Case Of Partial Lipodystrophy From Mpdl (mandibular Hypoplasia, Deafness, Progeroid, Lipodystrophy Syndrome) Due To Pold1 Gene Mutation
por: Majumdar, Sujoyeeta, et al.
Publicado: (2022)

The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection
por: Okada, Asami, et al.
Publicado: (2017)

Soft substrates normalize nuclear morphology and prevent nuclear rupture in fibroblasts from a laminopathy patient with compound heterozygous LMNA mutations
por: Tamiello, Chiara, et al.
Publicado: (2013)

Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants
por: Vasandani, Chandna, et al.
Publicado: (2022)

A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection
por: Wang, Xiu-Wen, et al.
Publicado: (2020)

Lamin A/C Mechanotransduction in Laminopathies
por: Donnaloja, Francesca, et al.
Publicado: (2020)

A mutation in the c-Fos gene associated with congenital generalized lipodystrophy
por: Knebel, Birgit, et al.
Publicado: (2013)

The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress
por: Verstraeten, Valerie LRM, et al.
Publicado: (2009)

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
por: Moriwaki, Takahito, et al.
Publicado: (2023)

A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome
por: Wang, Linda R., et al.
Publicado: (2018)

Novel mutations in LMNA A/C gene and associated phenotypes
por: Petillo, Roberta, et al.
Publicado: (2015)

Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review
por: Fernandez-Pombo, Antia, et al.
Publicado: (2023)

SUN-593 Variants in Known Monogenic Causal Genes of Hypertriglyceridemia Are Not Major Contributors for Hypertriglyceridemia in Lipodystrophy Due to a LMNA Mutation
por: Ueda, Masako, et al.
Publicado: (2020)

Laminopathies
por: Lattanzi, Giovanna, et al.
Publicado: (2018)

Progeroide Syndrome: Alterung, Hautalterung und Mechanismen progeroider Erkrankungen
por: Koschitzki, Kevin, et al.
Publicado: (2023)

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
por: Bai, Shaochun, et al.
Publicado: (2014)

Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report
por: Guevara-Ramírez, Patricia, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_epi4qh455io8gjaiuoe0k6hgvt