المؤلفون: Zheng, Melanie, Huang, Daniel Q, Konkwo, Chigoziri, Agrawal, Saaket, Khera, Amit V, Loomba, Rohit, Vilarinho, Sílvia, Ajmera, Veeral

المصدر: JHEP Reports. 5(4)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Human Genome, Chronic Liver Disease and Cirrhosis, Liver Disease, Clinical Research, Digestive Diseases, Genetics, Obesity, 2.1 Biological and endogenous factors, 4.2 Evaluation of markers and technologies, Oral and gastrointestinal, Metabolic and endocrine, Good Health and Well Being, NAFLD, Non-obese, Rare genetic variants, Whole exome sequencing, ALT, alanine aminotransferase, APOB, apolipoprotein B, FHBL, familial hypobetalipoproteinaemia, LOFHC, high-confidence predicted loss-of-function, MRE, magnetic resonance elastography, MRI, magnetic resonance imaging, MRI-PDFF, magnetic resonance imaging proton density fat fraction, NAFLD, non-alcoholic fatty liver disease, UCSD, University of California San Diego, WES, whole exome sequencing, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1b4342nt
https://escholarship.org/content/qt1b4342nt/qt1b4342nt.pdf

المؤلفون: Hayato Tada, Nobuko Kojima, Masa-aki Kawashiri, Masayuki Takamura

المصدر: Heliyon, Vol 10, Iss 8, Pp e29924- (2024)

مصطلحات موضوعية: Familial hypobetalipoproteinemia (FHBL), Angiopoietin-like 3 (ANGPTL3), Genetics, LDL cholesterol, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024059553; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/c5cb395cb7fd444b82ad22d79ee550d1

المؤلفون: Chouik, Y., Di Filippo, M., Radenne, S., Dumortier, J., Moulin, P., Levrero, M.

المساهمون: Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard Lyon -Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut d'hématologie et d'oncologie pédiatrique CHU - HCL (IHOPe), Hospices Civils de Lyon (HCL), Hôpital de la Croix-Rousse CHU - HCL, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Edouard Herriot CHU - HCL, Università degli Studi di Roma "La Sapienza" = Sapienza University Rome (UNIROMA)

المصدر: ISSN: 1478-3223.

مصطلحات موضوعية: Humans, Male, Female, Middle Aged, Apolipoprotein B-100/genetics, Nash, Mutation, Lipase/genetics, familial hypobetalipoproteinemia, Nafld, Apolipoprotein B, Fhbl, Masld, Snp, Carcinoma, Hepatocellular/genetics, Heterozygote, Liver Cirrhosis/genetics, Liver Neoplasms/genetics, Membrane Proteins/genetics, Acyltransferases, Fatty Liver/genetics, Fhbl-sd2, Phospholipases A2, Calcium-Independent, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38421084; inserm-04661850; https://inserm.hal.science/inserm-04661850; https://inserm.hal.science/inserm-04661850/document; https://inserm.hal.science/inserm-04661850/file/Liver%20International%20-%202024%20-%20Chouik.pdf; PUBMED: 38421084

الاتاحة: https://inserm.hal.science/inserm-04661850
https://inserm.hal.science/inserm-04661850/document
https://inserm.hal.science/inserm-04661850/file/Liver%20International%20-%202024%20-%20Chouik.pdf
https://doi.org/10.1111/liv.15837

المؤلفون: Giorgio Mottola, Francine K. Welty, Hamid R. Mojibian, Kamil F. Faridi

المصدر: Frontiers in Cardiovascular Medicine, Vol 10 (2023)

مصطلحات موضوعية: LDL-C, atherosclerosis, familial hypobetalipoproteinemia (FHBL), primordial prevention of CVD, coronary artery disease, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2023.1272944/full; https://doaj.org/toc/2297-055X

URL الوصول: https://doaj.org/article/10f4dfb1bc3d4c038ef1757ff76e3797

المؤلفون: Akihiro Nomura, Atsushi Nohara, Hayato Tada, Hirofumi Okada, Masa-aki Kawashiri, Masayuki Takamura

المصدر: Internal Medicine. 2020, 59(6):783

المؤلفون: Melanie Zheng, Daniel Q. Huang, Chigoziri Konkwo, Saaket Agrawal, Amit V. Khera, Rohit Loomba, Sílvia Vilarinho, Veeral Ajmera

المصدر: JHEP reports : innovation in hepatology, vol 5, iss 4

مصطلحات موضوعية: familial hypobetalipoproteinaemia, ALT, alanine aminotransferase, Chronic Liver Disease and Cirrhosis, Non-obese, Oral and gastrointestinal, Rare genetic variants, whole exome sequencing, UCSD, Clinical Research, NAFLD, Internal Medicine, Genetics, Immunology and Allergy, apolipoprotein B, magnetic resonance imaging, 2.1 Biological and endogenous factors, Obesity, Aetiology, magnetic resonance imaging proton density fat fraction, Metabolic and endocrine, Nutrition, Hepatology, Liver Disease, Human Genome, Gastroenterology, FHBL, non-alcoholic fatty liver disease, University of California San Diego, high-confidence predicted loss-of-function, magnetic resonance elastography, Good Health and Well Being, MRE, LOFHC, WES, APOB, Digestive Diseases, MRI-PDFF, MRI

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adfe81f210dbdbe336b58b7169a74ef2
https://escholarship.org/uc/item/1b4342nt

المؤلفون: Giorgio Mottola, Francine K. Welty, Hamid R. Mojibian, Kamil F. Faridi

مصطلحات موضوعية: Cardiology, Cardiology (incl. Cardiovascular Diseases), Cardiorespiratory Medicine and Haematology not elsewhere classified, LDL-C, atherosclerosis, familial hypobetalipoproteinemia (FHBL), primordial prevention of CVD, coronary artery disease

Relation: https://figshare.com/articles/media/Video1_Case_report_Coronary_atherosclerosis_in_a_patient_with_long-standing_very_low_LDL-C_without_lipid-lowering_therapy_mp4/24159660

الاتاحة: https://doi.org/10.3389/fcvm.2023.1272944.s002
https://figshare.com/articles/media/Video1_Case_report_Coronary_atherosclerosis_in_a_patient_with_long-standing_very_low_LDL-C_without_lipid-lowering_therapy_mp4/24159660

المؤلفون: Giorgio Mottola, Francine K. Welty, Hamid R. Mojibian, Kamil F. Faridi

مصطلحات موضوعية: Cardiology, Cardiology (incl. Cardiovascular Diseases), Cardiorespiratory Medicine and Haematology not elsewhere classified, LDL-C, atherosclerosis, familial hypobetalipoproteinemia (FHBL), primordial prevention of CVD, coronary artery disease

Relation: https://figshare.com/articles/dataset/Table1_Case_report_Coronary_atherosclerosis_in_a_patient_with_long-standing_very_low_LDL-C_without_lipid-lowering_therapy_docx/24159657

الاتاحة: https://doi.org/10.3389/fcvm.2023.1272944.s001
https://figshare.com/articles/dataset/Table1_Case_report_Coronary_atherosclerosis_in_a_patient_with_long-standing_very_low_LDL-C_without_lipid-lowering_therapy_docx/24159657

المؤلفون: Robert D. Brook, Whitney E. Hornsby, Melvyn Rubenfire, Richard L. Weinberg, Cristen J. Willer, Kristian Hveem, Lars G. Fritsche, Y. Eugene Chen, Linda Farhat, Ida Surakka

المصدر: JACC Case Reports
JACC: Case Reports, Vol 2, Iss 5, Pp 775-779 (2020)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Apolipoprotein B, Apob gene, Low density lipoprotein cholesterol, Case Report, 030105 genetics & heredity, apolipoprotein B loss-of-function, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Clinical Case, Internal medicine, medicine, Diseases of the circulatory (Cardiovascular) system, FHBL, familial hypobetalipoproteinemia, Adverse effect, Lipoprotein cholesterol, low-density lipoprotein cholesterol, apoB, apolipoprotein B, biology, business.industry, hypobetalipoproteinemia, medicine.disease, Endocrinology, RC666-701, LoF, loss-of-function, biology.protein, lipids (amino acids, peptides, and proteins), LDL-C, low-density lipoprotein cholesterol, Hypobetalipoproteinemia, Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61fbcdb56eb397762e9b4b229d4cf212
http://europepmc.org/articles/PMC8301695

المؤلفون: Bove M, Carnevali L, Cicero A, Tarugi P, Gaddi A

المصدر: Balkan Journal of Medical Genetics, Vol 13, Iss 2, Pp 65-69 (2010)

مصطلحات موضوعية: apolipoprotein b (apo-b), genetic mutation, familial hypobetalipoproteinemia (fhbl), metabolic syndrome (ms), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/e2ca55c6757a4d3ba258f2847d85af48

المؤلفون: SPINA, Rossella, CEFALU', Angelo Baldassare, ALTIERI, Grazia Ida, VALENTI, Vincenza, FAYER, Francesca, PALESANO, Ornella, AVERNA, Maurizio, Pirruccello, JP, Noto, D, Gabriel, S, Gupta, N, Tarugi, P, Kathiresan, S

المساهمون: Spina, R, Cefalù AB, Pirruccello, JP, Altieri, GI, Noto, D, Gabriel, S, Valenti, V, Gupta, N, Fayer, F, Palesano, O, Tarugi, P, Kathiresan, S, Averna, M

مصطلحات موضوعية: fatty liver, HCC, FHBL, Settore MED/09 - Medicina Interna

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000322187600041; ispartofbook:Giornale Italiano dell'Arteriosclerosi; 27° congresso naionale SISA; issue:4; firstpage:116; lastpage:116; numberofpages:1; journal:GIORNALE ITALIANO DELL'ARTERIOSCLEROSI; http://hdl.handle.net/10447/104768

الاتاحة: http://hdl.handle.net/10447/104768

المؤلفون: Magnolo, AL, Pinotti, E, Di Leo, E, Yao, Z, Tarugi, P., VALENTI, Vincenza, CEFALU', Angelo Baldassare, AVERNA, Maurizio

المساهمون: Magnolo, AL, Pinotti, E, Di Leo, E, Valenti, V, Cefalù, AB, Yao, Z, Averna, M, Tarugi, P

مصطلحات موضوعية: FHBL, missense variants, Settore MED/09 - Medicina Interna

Relation: ispartofbook:Giornale Italiano dell'Arteriosclerosi; 27° congresso nazionale SISA; issue:4; firstpage:98; lastpage:99; numberofpages:2; journal:GIORNALE ITALIANO DELL'ARTERIOSCLEROSI; http://hdl.handle.net/10447/104764

الاتاحة: http://hdl.handle.net/10447/104764

المؤلفون: VALENTI, Vincenza, CEFALU', Angelo Baldassare, SPINA, Rossella, NOTO, Davide, AVERNA, Maurizio, Garlaschelli K, Grigore L, Uboldi P, Norata GD, Ghiglioni D, Fiocchi L, Terracciano L, Zoja A, Catapano AL

المساهمون: Valenti V, Garlaschelli K, Cefalù AB, Grigore L, Spina R, Uboldi P, Noto D, Norata GD, Ghiglioni D, Fiocchi L, Terracciano L, Zoja A, Catapano AL, Averna M

مصطلحات موضوعية: FHBL, Compound heterozygou, splicing mutations, Settore MED/09 - Medicina Interna

Relation: ispartofbook:Giornale Italiano dell'Arteriosclerosi; 26° Congresso nazionale SISA; issue:4; firstpage:82; lastpage:82; numberofpages:1; journal:GIORNALE ITALIANO DELL'ARTERIOSCLEROSI; http://hdl.handle.net/10447/104760

الاتاحة: http://hdl.handle.net/10447/104760

المؤلفون: Magnolo, AL, Fancello, T, Pinotti, E, Tarugi, P., VALENTI, Vincenza, CEFALU', Angelo Baldassare, AVERNA, Maurizio

المساهمون: Magnolo, AL, Fancello, T, Pinotti, E, Valenti, V, Cefalù, AB, Averna, M, Tarugi, P

مصطلحات موضوعية: FHBL, missense mutations, Settore MED/09 - Medicina Interna

Relation: ispartofbook:RIASSUNTO DELLE COMUNICAZIONI PRESENTATE AL 26° CONGRESSO NAZIONALE S.I.S.A.; 25° congresso nazionale SISA; issue:3; firstpage:75; lastpage:76; numberofpages:2; journal:GIORNALE ITALIANO DELL'ARTERIOSCLEROSI; http://hdl.handle.net/10447/104736

الاتاحة: http://hdl.handle.net/10447/104736

المؤلفون: Atsushi Nohara, Hayato Tada, Hirofumi Okada, Akihiro Nomura, Masa-aki Kawashiri, Masayuki Takamura

المصدر: Internal Medicine

مصطلحات موضوعية: Adult, medicine.medical_specialty, Case Report, 030204 cardiovascular system & hematology, Hypobetalipoproteinemias, PCSK9, 03 medical and health sciences, PCSK9 Gene, 0302 clinical medicine, Internal medicine, Internal Medicine, medicine, Humans, Gene, business.industry, Fatty liver, FHBL, General Medicine, Cholesterol, LDL, medicine.disease, Proprotein convertase, Endocrinology, LDL cholesterol, Kexin, 030211 gastroenterology & hepatology, lipids (amino acids, peptides, and proteins), Female, Hypobetalipoproteinemia, Proprotein Convertase 9, business, Gene Deletion, Lipoprotein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::975e2f3a08da2fe7bc84bd974eb389d4
https://pubmed.ncbi.nlm.nih.gov/32173689

المؤلفون: Patrizia Tarugi, Antonio Vittorino Gaddi, Marilisa Bove, Lucio Carnevali, Arrigo F G Cicero

المساهمون: Bove M., Carnevali L., Cicero A., Tarugi P., Gaddi A.

المصدر: Balkan Journal of Medical Genetics, Vol 13, Iss 2, Pp 65-69 (2010)

مصطلحات موضوعية: medicine.medical_specialty, Apolipoprotein B, Population, Genetic mutation, QH426-470, Exon, Insulin resistance, apolipoprotein b (apo-b), Internal medicine, medicine, Genetics, Familial hypobetalipoproteinemia, metabolic syndrome (ms), education, familial hypobetalipoproteinemia (fhbl), Genetics (clinical), Metabolic Syndrome, education.field_of_study, Apolipoprotein B (Apo-B), Familial hypobetalipoproteinemia (FHBL), Metabolic Syndrome (MS), biology, Fatty liver, Genetic disorder, medicine.disease, Obesity, Endocrinology, biology.protein, lipids (amino acids, peptides, and proteins), Metabolic syndrome

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2044120c49a6989fff6347d650a6fe
http://hdl.handle.net/11585/106093

المؤلفون: CANNIZZARO, Alessandra, FAYER, Francesca, NOTO D, CEFALU', Angelo Baldassare, MONTALCINI T, VALENTI, Vincenza, PITRONE M, MINA', Mariangela, BARRACO, Giacoma, NOTARBARTOLO, Alberto, PUJIA A, AVERNA, Maurizio

المساهمون: CANNIZZARO A, FAYER F, NOTO D, CEFALU AB, MONTALCINI T, VALENTI V, PITRONE M, MINA M, BARRACO G, NOTARBARTOLO A, PUJIA A, AVERNA MR

مصطلحات موضوعية: APOB, CHYLOMICRON, FHBL

Relation: ispartofbook:Nutrition Metabolism & Cardiovascular Disease; XXI NATIONAL CONGRESS OF THE ITALIAN SOCIETY FOR THE STUDY OF ARTERIOSCLEROSIS; volume:18, ISSUE 1; firstpage:S4; lastpage:S4; numberofpages:1; journal:SHORT APOB TRUNCATIONS SHOW IMPAIRE CHYLOMICRON EXPORT AND ENTEROCYTE TRIGLYCERIDE ACCUMULATION. IN VIVO AND IN VITRO EVIDENCE ON A APOB 28.25 STABLE-TRANSFECTED ENTEROCYTE CELL LINE; http://hdl.handle.net/10447/19384

الاتاحة: http://hdl.handle.net/10447/19384

المؤلفون: Molini V, Giachino P, Allora C, Ramella V, Rabbone I, GUARDAMAGNA, Ornella

المساهمون: Molini V, Giachino P, Allora C, Ramella V, Rabbone I, Guardamagna O.

مصطلحات موضوعية: FHBL, steatosi, Apolipoprotein B gene, mutation analysis

Relation: X National Congress of the Italian Society of Gastroenterology and pediatric Hepatology; volume:35 (10); firstpage:S8; lastpage:S8; journal:DIGESTIVE AND LIVER DISEASE; http://hdl.handle.net/2318/125934

الاتاحة: http://hdl.handle.net/2318/125934

المؤلفون: Bobbio A, Tarugi P, Bonardi R, Giachino P, Ramella V, Averna M, GUARDAMAGNA, Ornella

المساهمون: Bobbio A, Tarugi P, Bonardi R, Giachino P, Ramella V, Averna M, Guardamagna O.

مصطلحات موضوعية: steatosi, children, inherited fat disorder, FHBL, AboB gene mutation

Relation: United European Gastroenterology Week; volume:-; firstpage:-; lastpage:-; numberofpages:-; journal:GUT; http://hdl.handle.net/2318/1519218

الاتاحة: http://hdl.handle.net/2318/1519218

المؤلفون: GUARDAMAGNA, Ornella, BUGIANESI, Elisabetta, BONDONE, claudia, Bonardi R, Molini V, Bobbio A.

المساهمون: Guardamagna O, Bugianesi E, Bonardi R, Molini V, Bondone C, Bobbio A

مصطلحات موضوعية: Apolipoprotein B, FHBL, apoB gene, novel truncated apoB, mutation, liver steatosis

Relation: Annual Meeting American Journal Human Genetics; volume:71(4); firstpage:427; lastpage:427; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2318/122135

الاتاحة: http://hdl.handle.net/2318/122135