Cargando…

A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia

Clinical phenotypes of familial hypobetalipoproteinemia (FHBL) are related to a number of defective apolipoprotein B (APOB) alleles. Fatty liver disease is a typical manifestation, but serious neurological symptoms can appear. In this study, genetic analysis of the APOB gene and ophthalmological dia...

Descripción completa

Detalles Bibliográficos
Autores principales:	Musialik, Joanna, Boguszewska-Chachulska, Anna, Pojda-Wilczek, Dorota, Gorzkowska, Agnieszka, Szymańczak, Robert, Kania, Magdalena, Kujawa-Szewieczek, Agata, Wojcieszyn, Małgorzata, Hartleb, Marek, Więcek, Andrzej
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073066/ https://www.ncbi.nlm.nih.gov/pubmed/32093271 http://dx.doi.org/10.3390/ijms21041439

Ejemplares similares

Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families
por: Ayoub, Carine, et al.
Publicado: (2021)

The lipid story in chronic kidney disease: a long story with a happy end?
por: Kujawa-Szewieczek, Agata, et al.
Publicado: (2012)

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants
por: Vanhoye, Xavier, et al.
Publicado: (2022)

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia
por: Conca, Paola, et al.
Publicado: (2012)

The effect of Maintenance Treatment with Twice-daily or Prolonged Once-daily Tacrolimus Formulation on Visual Evoked Potentials in Stable Kidney Transplant Recipients
por: Kolonko, Aureliusz, et al.
Publicado: (2020)

Changes in Office Blood Pressure Control, Augmentation Index, and Liver Steatosis in Kidney Transplant Patients after Successful Hepatitis C Infection Treatment with Direct Antiviral Agents
por: Kolonko, Aureliusz, et al.
Publicado: (2020)

The Effects of Short-Term Changes in Sodium Intake on Plasma Marinobufagenin Levels in Patients with Primary Salt-Sensitive and Salt-Insensitive Hypertension
por: Łabno-Kirszniok, Katarzyna, et al.
Publicado: (2021)

Lactobacillus plantarum 299v Reduces the Incidence of Clostridium difficile Infection in Nephrology and Transplantation Ward—Results of One Year Extended Study
por: Dudzicz, Sylwia, et al.
Publicado: (2018)

The Association of Long-Functioning Hemodialysis Vascular Access with Prevalence of Left Ventricular Hypertrophy in Kidney Transplant Recipients
por: Kolonko, Aureliusz, et al.
Publicado: (2014)

The Effect of Lactobacillus plantarum 299v on the Incidence of Clostridium difficile Infection in High Risk Patients Treated with Antibiotics
por: Kujawa-Szewieczek, Agata, et al.
Publicado: (2015)

Familial Hypobetalipoproteinemia-Induced Nonalcoholic Steatohepatitis
por: Lam, Mindy C.W., et al.
Publicado: (2012)

Complex genetic architecture in severe hypobetalipoproteinemia
por: Wang, Linda R., et al.
Publicado: (2018)

Association between Kidney Donor Risk Index, kidney graft function and histological changes in early post-transplant graft biopsy
por: Słabiak-Błaż, Natalia, et al.
Publicado: (2023)

Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review
por: Molk, Neza, et al.
Publicado: (2023)

Calcification of coronary arteries and abdominal aorta in relation to traditional and novel risk factors of atherosclerosis in hemodialysis patients
por: Pencak, Przemysław, et al.
Publicado: (2013)

Arterial stiffness but not endothelial dysfunction is associated with multidrug antihypertensive therapy and nondipper blood pressure pattern in kidney transplant recipients
por: Kolonko, Aureliusz, et al.
Publicado: (2018)

Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia
por: Sasaki, Kei, et al.
Publicado: (2022)

Flash visual evoked potentials (FVEP) in various stimulation conditions
por: Pojda-Wilczek, Dorota, et al.
Publicado: (2018)

Combined central retinal vein and cilioretinal artery occlusion in a 25-year-old woman
por: Sedlak, Lech, et al.
Publicado: (2022)

Visual evoked potentials as a method for the prospective assessment of tacrolimus neurotoxicity in patients after kidney transplantation
por: Sirek, Sebastian, et al.
Publicado: (2022)

Rna Viruses Redirect Host Factors to Better Amplify Their Genome
por: Boguszewska‐Chachulska, Anna M., et al.
Publicado: (2005)

Impaired Cytoskeletal and Membrane Biophysical Properties of Acanthocytes in Hypobetalipoproteinemia – A Case Study
por: Cloos, Anne-Sophie, et al.
Publicado: (2021)

The Increase of Theta Power and Decrease of Alpha/Theta Ratio as a Manifestation of Cognitive Impairment in Parkinson’s Disease
por: Zawiślak-Fornagiel, Katarzyna, et al.
Publicado: (2023)

Age-Related Macular or Retinal Degeneration?
por: Gałuszka, Michalina, et al.
Publicado: (2023)

Increased EBV DNAemia after Anti-SARS-CoV-2 Vaccination in Solid Organ Transplants
por: Musialik, Joanna, et al.
Publicado: (2022)

Erratum: Impaired Cytoskeletal and Membrane Biophysical Properties of Acanthocytes in Hypobetalipoproteinemia – A Case Study
por: Frontiers Production Office,
Publicado: (2021)

Diagnostic methods in ocular argyrosis: case report
por: Sarnat-Kucharczyk, Monika, et al.
Publicado: (2016)

Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration
por: Wąsowska, Anna, et al.
Publicado: (2023)

Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family
por: Pojda-Wilczek, Dorota, et al.
Publicado: (2022)

Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia
por: Peddareddygari, Leema Reddy, et al.
Publicado: (2015)

Ocular Toxoplasmosis Associated with Unilateral Pigmentary Retinopathy That May Mimic Retinitis Pigmentosa: Diagnostic Dilemmas
por: Karska-Basta, Izabella, et al.
Publicado: (2021)

Virus‐Like Particles: Models for Assembly Studies and Foreign Epitope Carriers
por: Palucha, Andrzej, et al.
Publicado: (2005)

Prevalence of hypobetalipoproteinemia and related psychiatric characteristics in a psychiatric population: results from the retrospective HYPOPSY Study
por: Cariou, Bertrand, et al.
Publicado: (2018)

A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
por: Tada, Hayato, et al.
Publicado: (2020)

Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias
por: Bordat, Claire, et al.
Publicado: (2023)

Justified granulation aided noninvasive liver fibrosis classification system
por: Bernas, Marcin, et al.
Publicado: (2015)

Ocular features in Aicardi syndrome: A case report
por: Sirek, Sebastian, et al.
Publicado: (2022)

Beneficial Effect of Successful Simultaneous Pancreas-Kidney Transplantation on Plasma Profile of Metalloproteinases in Type 1 Diabetes Mellitus Patients
por: Chudek, Jerzy, et al.
Publicado: (2021)

Investigation of human apoB48 metabolism using a new, integrated non‐steady‐state model of apoB48 and apoB100 kinetics
por: Björnson, E., et al.
Publicado: (2019)

Determination of Serum Ceruloplasmin Concentration in Patients with Primary Open Angle Glaucoma with Cataract and Patients with Cataract Only: A Pilot Study
por: Sarnat-Kucharczyk, Monika, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_3jqq36lbhcstvne5p2d0ri15n5