Research & Literature

Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6) Is a Novel Nutritional Therapeutic Target for Hyperlipidemia, Non-Alcoholic Fatty Liver Disease, and Atherosclerosis.

Go GW

Nutrients 2015; (7(6)):4453-64 doi:10.3390/nu7064453.

Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management.

Boyer SW, Barclay LJ, Burrage LC

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2015; (30(4)):502-10 doi:10.1177/0884533615586201.

Association of Nonalcoholic Fatty Liver Disease with Subclinical Cardiovascular Changes: A Systematic Review and Meta-Analysis.

Bonci E, Chiesa C, Versacci P, et al.

BioMed research international 2015; (2015()):213737 doi:10.1155/2015/213737.

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Prasad MK, Geoffroy V, Vicaire S, et al.

Journal of medical genetics 2016; (53(2)):98-110 doi:10.1136/jmedgenet-2015-103302.

Metabolic syndrome update.

Grundy SM

Trends in cardiovascular medicine 2016; (26(4)):364-73.

Global epidemiology of nonalcoholic fatty liver disease-Meta-analytic assessment of prevalence, incidence, and outcomes.

Younossi ZM, Koenig AB, Abdelatif D, et al.

Hepatology (Baltimore, Md.) 2016; (64(1)):73-84 doi:10.1002/hep.28431.

Sodium-glucose cotransporter 2 inhibitors with insulin in type 2 diabetes: Clinical perspectives.

John M, Gopinath D, Jagesh R

Indian journal of endocrinology and metabolism 2016; (20(1)):22-31 doi:10.4103/2230-8210.172268.

Genetics of Insulin Resistance and the Metabolic Syndrome.

Brown AE, Walker M

Current cardiology reports 2016; (18(8)):75 doi:10.1007/s11886-016-0755-4.

Mutant LRP6 Impairs Endothelial Cell Functions Associated with Familial Normolipidemic Coronary Artery Disease.

Guo J, Li Y, Ren YH, et al.

International journal of molecular sciences 2016; (17(7)).

New markers of insulin resistance in polycystic ovary syndrome.

Polak K, Czyzyk A, Simoncini T, Meczekalski B

Journal of endocrinological investigation 2017; (40(1)):1-8 doi:10.1007/s40618-016-0523-8.

Cardiovascular consequences of metabolic syndrome.

Tune JD, Goodwill AG, Sassoon DJ, Mather KJ

Translational research : the journal of laboratory and clinical medicine 2017; (183()):57-70 doi:10.1016/j.trsl.2017.01.001.

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

Dinckan N, Du R, Petty LE, et al.

Journal of dental research 2018; (97(1)):49-59 doi:10.1177/0022034517724149.

Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects.

Shi Z, Yang X, Li BB, et al.

Birth defects research 2018; (110(1)):63-71 doi:10.1002/bdr2.1122.

Extracellular LDLR repeats modulate Wnt signaling activity by promoting LRP6 receptor endocytosis mediated by the Itch E3 ubiquitin ligase.

Vijayakumar S, Liu G, Wen HC, et al.

Genes & cancer 2017; (8(7-8)):613-627 doi:10.18632/genesandcancer.146.

Pathophysiology of the metabolic syndrome.

McCracken E, Monaghan M, Sreenivasan S

Clinics in dermatology 2018; (36(1)):14-20 doi:10.1016/j.clindermatol.2017.09.004.

Genetic Testing for Cardiomyopathies in Clinical Practice.

Ingles J, Bagnall RD, Semsarian C

Heart failure clinics 2018; (14(2)):129-137 doi:10.1016/j.hfc.2017.12.001.

Toosendanin inhibits adipogenesis by activating Wnt/β-catenin signaling.

Chen TX, Cheng XY, Wang Y, Yin W

Scientific reports 2018; (8(1)):4626 doi:10.1038/s41598-018-22873-x.

The association of LRP6 rs2302685 (V1062I) polymorphism with the risk of hyperlipidemia in Iranian children and adolescents.

Montazeri-Najafabady N, Dabbaghmanesh MH, Mohammadian Amiri R

Annals of human genetics 2018; (82(6)):382-388 doi:10.1111/ahg.12254.

The interplay of canonical and noncanonical Wnt signaling in metabolic syndrome.

Abou Ziki MD, Mani A

Nutrition research (New York, N.Y.) 2019; (70()):18-25 doi:10.1016/j.nutres.2018.06.009.

Management of Hyperglycemia in Type 2 Diabetes, 2018. A Consensus Report by the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).

Davies MJ, D'Alessio DA, Fradkin J, et al.

Diabetes care 2018; (41(12)):2669-2701 doi:10.2337/dci18-0033.

Genetics and epigenetics in obesity.

Rohde K, Keller M, la Cour Poulsen L, et al.

Metabolism: clinical and experimental 2019; (92()):37-50 doi:10.1016/j.metabol.2018.10.007.

A comprehensive diagnostic approach to detect underlying causes of obesity in adults.

van der Valk ES, van den Akker ELT, Savas M, et al.

Obesity reviews : an official journal of the International Association for the Study of Obesity 2019; (20(6)):795-804 doi:10.1111/obr.12836.

Maturity-onset diabetes of the young (MODY): current perspectives on diagnosis and treatment.

Urakami T

Diabetes, metabolic syndrome and obesity : targets and therapy 2019; (12()):1047-1056 doi:10.2147/DMSO.S179793.

Therapeutic Targeting of LRP6 in Cardiovascular Diseases: Challenging But Not Wnt-Possible!

Labbé P, Thorin E

The Canadian journal of cardiology 2019; (35(11)):1567-1575 doi:10.1016/j.cjca.2019.06.030.

The metabolic syndrome - What is it and how should it be managed?

Nilsson PM, Tuomilehto J, Rydén L

European journal of preventive cardiology 2019; (26(2_suppl)):33-46 doi:10.1177/2047487319886404.

A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.

Sztromwasser P, Michalak A, Małachowska B, et al.

Pediatric diabetes 2020; (21(3)):422-430 doi:10.1111/pedi.12959.

2019 Update to: Management of Hyperglycemia in Type 2 Diabetes, 2018. A Consensus Report by the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).

Buse JB, Wexler DJ, Tsapas A, et al.

Diabetes care 2020; (43(2)):487-493 doi:10.2337/dci19-0066.

The Diagnosis and Treatment of Hypertriglyceridemia.

Parhofer KG, Laufs U

Deutsches Arzteblatt international 2019; (116(49)):825-832.

Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.

Kleinendorst L, Abawi O, van der Voorn B, et al.

PloS one 2020; (15(5)):e0232990 doi:10.1371/journal.pone.0232990.

A novel missense mutation of LRP6 identified by whole-exome sequencing in a Chinese family with non-syndromic tooth agenesis.

Wang H, Liu Y, Zheng Y, et al.

Orthodontics & craniofacial research 2021; (24(2)):233-240 doi:10.1111/ocr.12424.

Management of Hypertriglyceridemia: Common Questions and Answers.

Oh RC, Trivette ET, Westerfield KL

American family physician 2020; (102(6)):347-354.

MECHANISMS IN ENDOCRINOLOGY: Update on treatments for patients with genetic obesity.

Poitou C, Mosbah H, Clément K

European journal of endocrinology 2020; (183(5)):R149-R166.

Hypertriglyceridemia is often under recognized as an aetiologic risk factor for acute pancreatitis: A population-based cohort study.

Olesen SS, Harakow A, Krogh K, et al.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2021; (21(2)):334-341 doi:10.1016/j.pan.2021.02.005.

Nonalcoholic Fatty Liver Disease and Cardiovascular Disease: Overlapping Mechanisms.

Møller S, Kimer N, Kronborg T, et al.

Seminars in liver disease 2021; (41(3)):235-247 doi:10.1055/s-0041-1725022.

Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum.

Mendoza-Caamal EC, Barajas-Olmos F, Mirzaeicheshmeh E, et al.

Orphanet journal of rare diseases 2021; (16(1)):291 doi:10.1186/s13023-021-01924-z.

Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans.

Zhang L, Yu M, Sun K, et al.

NPJ genomic medicine 2021; (6(1)):93 doi:10.1038/s41525-021-00262-0.

Effective, disease-modifying, clinical approaches to patients with mild-to-moderate hypertriglyceridaemia.

Lewis GF, Hegele RA

The lancet. Diabetes & endocrinology 2022; (10(2)):142-148 doi:10.1016/S2213-8587(21)00284-9.

Rare genetic causes of obesity: Diagnosis and management in clinical care.

Dubern B, Mosbah H, Pigeyre M, et al.

Annales d'endocrinologie 2022; (83(1)):63-72 doi:10.1016/j.ando.2021.12.003.

The Metabolic Syndrome Puzzles; Possible Pathogenesis and Management.

Marzoog BA

Current diabetes reviews 2023; (19(4)):e290422204258 doi:10.2174/1573399818666220429100411.

Elevated plasma triglyceride concentration and risk of adverse clinical outcomes in 1.5 million people: a CALIBER linked electronic health record study.

Patel RS, Pasea L, Soran H, et al.

Cardiovascular diabetology 2022; (21(1)):102 doi:10.1186/s12933-022-01525-5.

The promise of new anti-obesity therapies arising from knowledge of genetic obesity traits.

Hinney A, Körner A, Fischer-Posovszky P

Nature reviews. Endocrinology 2022; (18(10)):623-637 doi:10.1038/s41574-022-00716-0.

Early onset obesity due to a mutation in the human leptin receptor gene.

Chaves C, Kay T, Anselmo J

Endocrinology, diabetes & metabolism case reports 2022; (2022()).

GLP-1 Agonist to Treat Obesity and Prevent Cardiovascular Disease: What Have We Achieved so Far?

Pedrosa MR, Franco DR, Gieremek HW, et al.

Current atherosclerosis reports 2022; (24(11)):867-884 doi:10.1007/s11883-022-01062-2.

Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.

Yu K, Dou J, Huang W, et al.

Clinical genetics 2022; (102(6)):503-516 doi:10.1111/cge.14225.

Genetic obesity: an update with emerging therapeutic approaches.

Sohn YB

Annals of pediatric endocrinology & metabolism 2022; (27(3)):169-175 doi:10.6065/apem.2244188.094.

Maturity-onset diabetes of the young in a large Portuguese cohort.

Santos Monteiro S, da Silva Santos T, Fonseca L, et al.

Acta diabetologica 2023; (60(1)):83-91 doi:10.1007/s00592-022-01980-2.

Clinical, genetic, and epidemiological survey of Polish children and adolescents with severe obesity: A study protocol of the Polish-German study project on severe early-onset obesity.

Mierzwa M, Bik-Multanowski M, Ranke MB, et al.

Frontiers in endocrinology 2022; (13()):972174 doi:10.3389/fendo.2022.972174.

Links between Metabolic Syndrome and Hypertension: The Relationship with the Current Antidiabetic Drugs.

Stanciu S, Rusu E, Miricescu D, et al.

Metabolites 2023; (13(1)) doi:10.3390/metabo13010087.

Nutrition interventions for adults with dyslipidemia: A Clinical Perspective from the National Lipid Association.

Kirkpatrick CF, Sikand G, Petersen KS, et al.

Journal of clinical lipidology 2023; (17(4)):428-451 doi:10.1016/j.jacl.2023.05.099.

Genetic Counseling in Kidney Disease: A Perspective.

Stein Q, Westemeyer M, Darwish T, et al.

Kidney medicine 2023; (5(7)):100668 doi:10.1016/j.xkme.2023.100668.

Pediatric Obesity: Complications and Current Day Management.

Vajravelu ME, Tas E, Arslanian S

Life (Basel, Switzerland) 2023; (13(7)) doi:10.3390/life13071591.

Treatment and management for children with urea cycle disorder in chronic stage.

Huang X

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2023; (52(6)):744-750 doi:10.3724/zdxbyxb-2023-0378.

Multifactorial chylomicronemia syndrome.

Chait A

Current opinion in endocrinology, diabetes, and obesity 2024; (31(2)):78-83 doi:10.1097/MED.0000000000000846.

Multimodality Imaging in Metabolic Syndrome: State-of-the-Art Review.

Kalisz K, Navin PJ, Itani M, et al.

Radiographics : a review publication of the Radiological Society of North America, Inc 2024; (44(3)):e230083 doi:10.1148/rg.230083.

Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic.

Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, Couce ML

Nutrients 2024; (16(3)) doi:10.3390/nu16030423.

Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.

Previdi A, Dubourg C, Cormier Daire V, et al.

Clinical genetics 2024; (105(6)):666-670 doi:10.1111/cge.14501.

Clinical phenotypes of adults with monogenic and syndromic genetic obesity.

Welling MS, Mohseni M, Meeusen REH, et al.

Obesity (Silver Spring, Md.) 2024; (32(7)):1257-1267 doi:10.1002/oby.24047.

The age of the obesity onset is a very important factor for the development of metabolic complications and cardiovascular risk in children and adolescents with severe obesity.

Szczudlik E, Stępniewska A, Bik-Multanowski M, et al.

European journal of pediatrics 2024; (183(9)):3833-3841 doi:10.1007/s00431-024-05636-x.

Abdominal Obesity-Metabolic Syndrome 3 Misclassified as Type 1 Diabetes Mellitus.

Radi S, Bashamakh L, Mandourah H, Alsharif S

JCEM case reports 2024; (2(8)):luae120 doi:10.1210/jcemcr/luae120.

Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years.

Sen K, Harrar D, Pariseau N, et al.

Neurocritical care 2025; (42(2)):562-572 doi:10.1007/s12028-024-02073-4.

Overview of diabetes agents in cardiovascular disease: it takes an orchestra to play Tchaikovsky in symphony.

Loh WJ

Current opinion in endocrinology, diabetes, and obesity 2025; (32(1)):3-11 doi:10.1097/MED.0000000000000892.

Diabetic Ketoacidosis Caused by Acute Pancreatitis Results in Severe Hypertriglyceridemia: A Case Report.

Mansour A, Ghasemzade S

Clinical medicine insights. Endocrinology and diabetes 2025; (18()):11795514251323826 doi:10.1177/11795514251323826.

Innovative Care for Children and Adolescents with Severe and/or Genetic Obesity.

Schirmer M, Zorn S, von Schnurbein J, Wabitsch M

Hormone research in paediatrics 2025; 1-10 doi:10.1159/000544177.

Familial chylomicronemia syndrome: An expert clinical review from the National Lipid Association.

Javed F, Hegele RA, Garg A, et al.

Journal of clinical lipidology 2025; (19(3)):382-403 doi:10.1016/j.jacl.2025.03.013.

Recognition and management of persistent chylomicronemia: A Joint Expert Clinical Consensus by the National Lipid Association and the American Society for Preventive Cardiology.

Saadatagah S, Larouche M, Naderian M, et al.

Journal of clinical lipidology 2025; (19(4)):723-736 doi:10.1016/j.jacl.2025.03.012.

DNA methylation levels are independently associated with prevalence of atherosclerotic cardiovascular disease in multifactorial chylomicronemia syndrome.

Guay SP, Paquette M, Taschereau A, et al.

Clinical biochemistry 2025; (139()):110978 doi:10.1016/j.clinbiochem.2025.110978.

Maturity-onset diabetes of the young due to HNF1β variants (HNF1β-MODY): a 2-year follow-up study of six patients from a single diabetes center.

Jiang H, Luo Y, Huang X, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(12)):1270-1277 doi:10.1515/jpem-2025-0213.

Cardiovascular Pharmacotherapy and Glucose Metabolism: The Good, the Bad and the Unsightly.

Bianchettin RG, Poirier P, Lopez-Jimenez F, et al.

American journal of cardiovascular drugs : drugs, devices, and other interventions 2026; (26(3)):269-281 doi:10.1007/s40256-025-00777-2.

Emergency Management of Inherited Metabolic Disorders in Acute Surgical and Trauma Settings.

Furuta Y, Tinker RJ, Grochowsky AR, Phillips JA

The American surgeon 2026; (92(5)):1463-1472 doi:10.1177/00031348251403079.

Clinical considerations for the treatment of patients with familial chylomicronemia syndrome using a hepatic-targeted APOC3 antisense oligonucleotide.

Bajaj A, Oral EA, Brown A, et al.

American journal of preventive cardiology 2025; (24()):101352 doi:10.1016/j.ajpc.2025.101352.

Case Report: Severe hypertriglyceridaemia and multivessel coronary artery disease - management and plaque characteristics.

Kokina B, Lapsovs M, Roze R, et al.

Frontiers in cardiovascular medicine 2025; (12()):1622667 doi:10.3389/fcvm.2025.1622667.

Prevention and treatment of hypertriglyceridemia-mediated acute pancreatitis: A narrative review.

Subramanian S, Soran H, Sikora Kessler A, et al.

European journal of internal medicine 2025; 106648 doi:10.1016/j.ejim.2025.106648.

Approach to the Adult Patient with Chylomicronemia.

Hegele RA

The Journal of clinical endocrinology and metabolism 2026; (111(3)):845-859 doi:10.1210/clinem/dgaf701.

Monogenic obesity due to MC4R deficiency: lessons from a multigenerational case.

Giannopoulou EZ, Zorn S, Schirmer M, et al.

Molecular and cellular pediatrics 2026; (13(1)):3 doi:10.1186/s40348-025-00214-z.

LRP6 β-Propeller Destabilization: Novel Variant, Phenotype and Diagnostic Implications in Tooth Agenesis.

Intarak N, Ghasemnejad T, Fakhruddin KS, et al.

International dental journal 2026; (76(2)):109367 doi:10.1016/j.identj.2025.109367.

Severe Hypertriglyceridemia-Induced Pancreatitis Presenting With Diabetic Ketoacidosis in a Pediatric Patient.

Padilla AL, Davila Parrilla L, Agrait Gonzalez MF, et al.

Cureus 2025; (17(12)):e99289 doi:10.7759/cureus.99289.

Exploring Autosomal Dominant Non-Syndromic Monogenic Obesity: From Genes to Therapy.

Luppino G, Giordano M, Franchina F, et al.

Current issues in molecular biology 2026; (48(2)) doi:10.3390/cimb48020162.

Management of Childhood Obesity.

Gad H, Dauleh H, Mohammed I, et al.

International journal of molecular sciences 2026; (27(8)) doi:10.3390/ijms27083528.

Case Report: rapid progressive puberty in siblings with MC4R p. Arg165Gln: longitudinal follow-up and gonadotropin-releasing hormone agonist treatment.

Huang H, Yang Y, Xiong X, et al.

Frontiers in endocrinology 2026; (17()):1799027 doi:10.3389/fendo.2026.1799027.

Genotype-Phenotype Spectrum of Non-Syndromic Monogenic Obesity in a National Paediatric Cohort.

Kahveci A, Karauzum SU, Manyas H, et al.

Pediatric obesity 2026; (21(6)):e70121 doi:10.1111/ijpo.70121.

PERsonalised Medicine for Intensification of Treatment (PERMIT) in type 2 diabetes mellitus: a target trial emulation from routine data.

Lugo-Palacios DG, Bidulka P, Charlton P, et al.

Health technology assessment (Winchester, England) 2026; (30(47)):1-28 doi:10.3310/ASDB8011.

Severe Hypertriglyceridemia With Lipemia-Induced Analytical Interference: Diagnostic Challenges in a Chylomicronemia Phenotype.

Kaur A, Bali R, Batta A, et al.

JACC. Case reports 2026; (31(32)):108821 doi:10.1016/j.jaccas.2026.108821.

A Rare Monogenic Metabolic Syndrome From a DYRK1B Variant: Management Challenges and Insights.

Giri S, Roy A, Kumar Dutta A, et al.

AACE endocrinology and diabetes 2026; (13(4)):579-585 doi:10.1016/j.aed.2026.02.018.

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management.

Khalil H, Feigin E, Zaitoon H

Pediatric investigation 2026; (10(4)):333-344 doi:10.1002/ped4.70040.

Precision Medicine in patients with rare forms of genetic obesity: Necessity for coordinated and structured care.

Clément K, Farooqi IS, Kühnen P, et al.

The Journal of clinical endocrinology and metabolism 2026; doi:10.1210/clinem/dgag330.