Cargando…

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

BACKGROUND: Mice with a deleted Cav1 gene encoding caveolin-1 develop adipocyte abnormalities and insulin resistance. From genomic DNA of patients with atypical lipodystrophy and hypertriglyceridemia who had no mutations in any known lipodystrophy gene, we used DNA sequence analysis to screen the co...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cao, Henian, Alston, Lindsay, Ruschman, Jennifer, Hegele, Robert A
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2008
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2276215/ https://www.ncbi.nlm.nih.gov/pubmed/18237401 http://dx.doi.org/10.1186/1476-511X-7-3

Ejemplares similares

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)

Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
por: Francis, Gordon A, et al.
Publicado: (2006)

Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia
por: Akamnonu, Chukwuka, et al.
Publicado: (2021)

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

Hypertriglyceridemia
por: Brahm, Amanda, et al.
Publicado: (2013)

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

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

Genetics of Hypertriglyceridemia
por: Dron, Jacqueline S., et al.
Publicado: (2020)

SAT-088 A Novel Mutation In The Leptin Receptor Associated With Hypertriglyceridemia, Lipodystrophy And Non-alcoholic Fatty Liver
por: Viana, Gracia, et al.
Publicado: (2019)

A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia
por: Hegele, Robert A., et al.
Publicado: (2009)

Heterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease
por: Reisenauer, AK, et al.
Publicado: (2014)

Retinopathy and Uveitis in Congenital Generalized Lipodystrophy with Hypertriglyceridemia and Uncontrolled Diabetes (Berardinelli–Seip Syndrome)
por: Rubaie, Khaled A., et al.
Publicado: (2020)

Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C
por: Cecchetti, Carolina, et al.
Publicado: (2021)

Type 2 Diabetes With Partial Lipodystrophy of the Limbs: A new lipodystrophy phenotype
por: Strickland, Leah R., et al.
Publicado: (2013)

A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient
por: Liu, Yihui, et al.
Publicado: (2019)

Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650)
por: Wang, Jian, et al.
Publicado: (2007)

Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report
por: Lanktree, Matthew B, et al.
Publicado: (2009)

Familial Partial Lipodystrophy (FPLD): Recent Insights
por: Bagias, Christos, et al.
Publicado: (2020)

The Forrest Mims engineer's notebook
por: Mims, Forrest M
Publicado: (1992)

A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy
por: Qin, Yuan-yuan, et al.
Publicado: (2019)

Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia
por: Hang, Shyann M.T., et al.
Publicado: (2023)

Evaluation of epicardial adipose tissue in familial partial lipodystrophy
por: Godoy-Matos, Amélio Fernando, et al.
Publicado: (2015)

Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges
por: Chiquette, Elaine, et al.
Publicado: (2017)

SUN-556 Cardiac Phenotype in Familial Partial Lipodystrophy
por: Eldin, Abdelwahab Jalal, et al.
Publicado: (2020)

Tracking Monochloramine Decomposition in MIMS Analysis
por: Roumiguières, Adrien, et al.
Publicado: (2019)

Multiscale Innovative Materials and Structures (MIMS)
por: Barretta, Raffaele, et al.
Publicado: (2021)

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC
por: Rubio-Cabezas, Oscar, et al.
Publicado: (2009)

Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy–causing mutations
por: Simon, Dan N., et al.
Publicado: (2013)

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)

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency
por: Ziemnicka, K., et al.
Publicado: (2015)

Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review
por: Zhang, Chao, et al.
Publicado: (2022)

A Rare Heterozygous TINF2 Deletional Frameshift Mutation in a Chinese Pedigree With a Spectrum of TBDs Phenotypes
por: Ren, Hai-Long, et al.
Publicado: (2022)

Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations
por: Millar Vernetti, Patricio, et al.
Publicado: (2020)

Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome
por: Pan, Yun-Di, et al.
Publicado: (2019)

Heterozygous Mylk3 Knockout Mice Partially Recapitulate Human DCM With Heterozygous MYLK3 Mutations
por: Tougas, Carson L., et al.
Publicado: (2019)

Recurrent stroke as a presenting feature of acquired partial lipodystrophy
por: Prasad, Namburi R., et al.
Publicado: (2012)

Adult-Onset Acquired Partial Lipodystrophy Accompanied by Rheumatoid Arthritis
por: Muto, Yusuke, et al.
Publicado: (2015)

Bleomycin Containing Chemotherapeutic Regimen Induced Acquired Partial Lipodystrophy
por: Tandon, Vishal R, et al.
Publicado: (2016)

Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy
por: Jéru, Isabelle, et al.
Publicado: (2019)

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

Cannot write session to /tmp/vufind_sessions/sess_kogoc0v9i4j4t01nc4hjes2r8s