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Molecular Genetics and Metabolism
|
December 17, 2008
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia
Enza Di Leo, Lucia Magnolo, Elisa Pinotti, et al.
European Journal of Preventive Cardiology
|
February 20, 2024
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry
Laura D'Erasmo, Simone Bini, Manuela Casula, et al.
Atherosclerosis
|
September 27, 2005
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia
Livia Pisciotta, Claudio Priore Oliva, Angelo Baldassare Cefalù, et al.
Journal of Clinical Lipidology
|
February 20, 2016
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis
María José Ariza, Pedro Luis Martínez-Hernández, Daiana Ibarretxe, et al.
Journal of Lipid Research
|
February 11, 2003
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene
Serena Altilia, Livia Pisciotta, Rita Garuti, et al.
Pediatric Transplantation
|
September 18, 2010
Preemptive liver transplantation in a child with familial hypercholesterolemia
Arianna Maiorana, Valerio Nobili, Sebastiano Calandra, et al.
The Journal of Biological Chemistry
|
September 1, 2005
Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes
Maria Isabella Sirinian, Francesca Belleudi, Filomena Campagna, et al.
Orphanet Journal of Rare Diseases
|
September 18, 2014
Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease
Annalisa Sechi, Andrea Dardis, Stefania Zampieri, et al.
Molecular and Cellular Biology
|
September 2, 2004
Transcriptional regulation of human CYP27 integrates retinoid, peroxisome proliferator-activated receptor, and liver X receptor signaling in macrophages
Attila Szanto, Szilvia Benko, Istvan Szatmari, et al.
International Journal of Molecular Sciences
|
February 25, 2023
Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject
Asier Larrea-Sebal, Chiara Trenti, Shifa Jebari-Benslaiman, et al.
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of 9
Search research articles
Search
Showing results (61-70 of 88) with videos related to
Sort By:
Page
of 9
Molecular Genetics and Metabolism
|
December 17, 2008
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia
Enza Di Leo, Lucia Magnolo, Elisa Pinotti, et al.
European Journal of Preventive Cardiology
|
February 20, 2024
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry
Laura D'Erasmo, Simone Bini, Manuela Casula, et al.
Atherosclerosis
|
September 27, 2005
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia
Livia Pisciotta, Claudio Priore Oliva, Angelo Baldassare Cefalù, et al.
Journal of Clinical Lipidology
|
February 20, 2016
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis
María José Ariza, Pedro Luis Martínez-Hernández, Daiana Ibarretxe, et al.
Journal of Lipid Research
|
February 11, 2003
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene
Serena Altilia, Livia Pisciotta, Rita Garuti, et al.
Pediatric Transplantation
|
September 18, 2010
Preemptive liver transplantation in a child with familial hypercholesterolemia
Arianna Maiorana, Valerio Nobili, Sebastiano Calandra, et al.
The Journal of Biological Chemistry
|
September 1, 2005
Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes
Maria Isabella Sirinian, Francesca Belleudi, Filomena Campagna, et al.
Orphanet Journal of Rare Diseases
|
September 18, 2014
Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease
Annalisa Sechi, Andrea Dardis, Stefania Zampieri, et al.
Molecular and Cellular Biology
|
September 2, 2004
Transcriptional regulation of human CYP27 integrates retinoid, peroxisome proliferator-activated receptor, and liver X receptor signaling in macrophages
Attila Szanto, Szilvia Benko, Istvan Szatmari, et al.
International Journal of Molecular Sciences
|
February 25, 2023
Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject
Asier Larrea-Sebal, Chiara Trenti, Shifa Jebari-Benslaiman, et al.
Page
of 9