| 1 |
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
Angela R Brooks-Wilson et al. · Nature Genetics
|
Aug 1999 |
1,720 |
| 2 |
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part II: Schizophrenia
Cathryn M. Lewis et al. · The American Journal of Human Genetics
ReviewOpen access |
Jul 2003 |
1,149 |
| 3 |
Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis
George V. Papanikolaou et al. · Nature Genetics
|
30 Nov 2003 |
985 |
| 4 |
Mitoferrin is essential for erythroid iron assimilation
George Shaw et al. · Nature
|
Mar 2006 |
633 |
| 5 |
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Michael S. Watson, Garry R. Cutting, Robert J. Desnick et al. · Genetics in Medicine
Open access |
Sep 2004 |
480 |
| 6 |
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy
Johane M. Robitaille, Marcia L.E. MacDonald, Ajamete Kaykas et al. · Nature Genetics
|
12 Aug 2002 |
479 |
| 7 |
Loss‐of‐function mutations in the Na v 1.7 gene underlie congenital indifference to pain in multiple human populations
Y. Paul Goldberg et al. · Clinical Genetics
|
26 Mar 2007 |
463 |
| 8 |
Hepcidin in iron overload disorders
George V. Papanikolaou, Michalis Tzilianos, John I. Christakis et al. · Blood
Open access |
30 Jan 2005 |
447 |
| 9 |
Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-1 and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively
Kangmo Lu, Mi-Hye Lee, E. Starr Hazard et al. · The American Journal of Human Genetics
Open access |
Aug 2001 |
359 |
| 10 |
Progress in Understanding and Treating SCN2A-Mediated Disorders
Stephan Sanders et al. · Trends in Neurosciences
ReviewOpen access |
23 Apr 2018 |
358 |
| 11 |
Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux
Michel Marcil, Angela R Brooks-Wilson, Susanne M. Clee et al. · The Lancet
|
Oct 1999 |
358 |
| 12 |
Relationship between stearoyl-CoA desaturase activity and plasma triglycerides in human and mouse hypertriglyceridemia
Alan Attie, Ronald M. Krauss, Mark P. Gray-Keller et al. · Journal of Lipid Research
Open access |
29 Oct 2002 |
348 |
| 13 |
Structural basis of Nav1.7 inhibition by an isoform-selective small-molecule antagonist
Shivani Ahuja et al. · Science
|
17 Dec 2015 |
335 |
| 14 |
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes
Susanne M. Clee, John J.P. Kastelein, Marjel van Dam et al. · Journal of Clinical Investigation
Open access |
15 Nov 2000 |
318 |
| 15 |
ABCA1 mRNA and Protein Distribution Patterns Predict Multiple Different Roles and Levels of Regulation
Cheryl Lea Wellington, Elizabeth K.-Y. Walker, Agripina Suarez et al. · Laboratory Investigation
Open access |
Mar 2002 |
300 |
| 16 |
Common Genetic Variation in ABCA1 Is Associated With Altered Lipoprotein Levels and a Modified Risk for Coronary Artery Disease
Susanne M. Clee, Aeilko Having Zwinderman, James C. Engert et al. · Circulation
Open access |
6 Mar 2001 |
292 |
| 17 |
Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis
Alan Attie, John P. Kastelein, Michael R. Hayden · Journal of Lipid Research
Open access |
Nov 2001 |
286 |
| 18 |
Bcl-xL regulates metabolic efficiency of neurons through interaction with the mitochondrial F1FO ATP synthase
Kambiz N. Alavian, Hongmei Li, Leon P. Collis et al. · Nature Cell Biology
Open access |
18 Sep 2011 |
284 |
| 19 |
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract
Lei Bu, Yiping Jin, Yuefeng Shi et al. · Nature Genetics
|
24 Jun 2002 |
275 |
| 20 |
Increased ABCA1 activity protects against atherosclerosis
Roshni Rebecca Singaraja, Catherine Fiévet, Graciela Rosa Castro et al. · Journal of Clinical Investigation
Open access |
Jul 2002 |
250 |
| 21 |
Competitive regulation of hepcidin mRNA by soluble and cell-associated hemojuvelin
Lan Lin, Y. Paul Goldberg, Tomas Ganz · Blood
|
6 Jul 2005 |
240 |
| 22 |
The Small Molecule GMX1778 Is a Potent Inhibitor of NAD + Biosynthesis: Strategy for Enhanced Therapy in Nicotinic Acid Phosphoribosyltransferase 1-Deficient Tumors
Mark H. Watson et al. · Molecular and Cellular Biology
Open access |
24 Aug 2009 |
225 |
| 23 |
Inhibitory effects of cannabidiol on voltage-dependent sodium currents
Mohammad‐Reza Ghovanloo, Noah Gregory Shuart, Janette Mezeyova et al. · Journal of Biological Chemistry
Open access |
17 Sep 2018 |
212 |
| 24 |
Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study
Marjel van Dam, Eric de Groot, Susanne M. Clee et al. · The Lancet
|
2002 |
196 |
| 25 |
Human ABCA1 BAC Transgenic Mice Show Increased High Density Lipoprotein Cholesterol and ApoAI-dependent Efflux Stimulated by an Internal Promoter Containing Liver X Receptor Response Elements in Intron 1
Roshni Rebecca Singaraja, Virginie Bocher, Erick R. James et al. · Journal of Biological Chemistry
Open access |
Sep 2001 |
194 |
| 26 |
Discovery of XEN907, a spirooxindole blocker of NaV1.7 for the treatment of pain
Sultan Chowdhury, Mikhail Ayratovich Chafeev, Shifeng Liu et al. · Bioorganic & Medicinal Chemistry Letters
Open access |
25 Apr 2011 |
159 |
| 27 |
Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates
Ronald G.A. Lafrenière et al. · The American Journal of Human Genetics
Open access |
16 Apr 2004 |
158 |
| 28 |
Methyl-containing pharmaceuticals: Methylation in drug design
Shaoyi Sun, Jianmin Fu · Bioorganic & Medicinal Chemistry Letters
Open access |
14 Sep 2018 |
155 |
| 29 |
Treatment of Nav1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker
Yigal Paul Goldberg, Nicola Price, Rostam Namdari et al. · Pain
|
31 Oct 2011 |
150 |
| 30 |
A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease
G. Kees Hovingh, Alison Brownlie, Radjesh J. Bisoendial et al. · Journal of the American College of Cardiology
Open access |
Oct 2004 |
130 |
| 31 |
Protein Kinase A Site-specific Phosphorylation Regulates ATP-binding Cassette A1 (ABCA1)-mediated Phospholipid Efflux
Raymond H. See, Rosalinda A. Caday‐Malcolm, Roshni Rebecca Singaraja et al. · Journal of Biological Chemistry
Open access |
25 Oct 2002 |
128 |
| 32 |
ABCA1 Is Essential for Efficient Basolateral Cholesterol Efflux during the Absorption of Dietary Cholesterol in Chickens
Jacob D. Mulligan, Matthew T. Flowers, Angie Tebon et al. · Journal of Biological Chemistry
Open access |
Apr 2003 |
127 |
| 33 |
Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency
Michael R. Hayden, Susanne M. Clee, Angela R Brooks-Wilson et al. · Current Opinion in Lipidology
|
Apr 2000 |
123 |
| 34 |
The zebrafish mutant gene chardonnay (cdy) encodes divalent metal transporter 1 (DMT1)
Amanda Donovan · Blood
|
22 Aug 2002 |
107 |
| 35 |
Alterations of plasma lipids in mice via adenoviral-mediated hepatic overexpression of human ABCA1
Cheryl Lea Wellington, Liam R. Brunham, Steven Zhou et al. · Journal of Lipid Research
Open access |
23 Jul 2003 |
100 |
| 36 |
ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels
KY Zwarts, Susanne M. Clee, AH Zwinderman et al. · Clinical Genetics
Open access |
Feb 2002 |
99 |
| 37 |
Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability
Jianying Huang, Carlos G. Vanoye, Alison Cutts et al. · Journal of Clinical Investigation
Open access |
21 May 2017 |
98 |
| 38 |
Applications of amide isosteres in medicinal chemistry
Shaoyi Sun, Qi Jia, Zaihui Zhang · Bioorganic & Medicinal Chemistry Letters
Open access |
22 Jul 2019 |
91 |
| 39 |
CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease
Alicia Semaka, Chris Kay, Crystal N. Doty et al. · Journal of Medical Genetics
|
29 Jul 2013 |
91 |
| 40 |
Isoform-Selective ATAD2 Chemical Probe with Novel Chemical Structure and Unusual Mode of Action
Amaury E. Fernández‐Montalván et al. · ACS Chemical Biology
Open access |
18 Oct 2017 |
90 |
| 41 |
Opportunities and Challenges in Developing Stearoyl-Coenzyme A Desaturase-1 Inhibitors as Novel Therapeutics for Human Disease
Zaihui Zhang, Natalie A. Dales, Michael D. Winther · Journal of Medicinal Chemistry
|
2 Dec 2013 |
90 |
| 42 |
Structure of the deep demersal fish fauna off Newfoundland
PVR Snelgrove, R L Haedrich · Marine Ecology Progress Series
Open access |
1985 |
90 |
| 43 |
Genome‐wide scan for linkage to schizophrenia in a Spanish‐origin cohort from Costa Rica
Lynn E. DeLisi, Andrea Mesén, Carlos Rodriguez et al. · American Journal of Medical Genetics
|
8 May 2002 |
87 |
| 44 |
GeneTests-GeneClinics: Genetic testing information for a growing audience
Roberta A Pagon, Peter Z Tarczy-Hornoch, Patricia K. Baskin et al. · Human Mutation
|
10 Apr 2002 |
83 |
| 45 |
Selective NaV1.7 Antagonists with Long Residence Time Show Improved Efficacy against Inflammatory and Neuropathic Pain
Girish R. Bankar et al. · Cell Reports
Open access |
Sep 2018 |
80 |
| 46 |
NBI-921352, a first-in-class, NaV1.6 selective, sodium channel inhibitor that prevents seizures in Scn8a gain-of-function mice, and wild-type mice and rats
JP Johnson et al. · eLife
Open access |
24 Feb 2022 |
78 |
| 47 |
Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans
Lr Brunham, Ian Tietjen, A.E. Bochem et al. · Clinical Genetics
|
11 Apr 2011 |
75 |
| 48 |
Discovery of Aryl Sulfonamides as Isoform-Selective Inhibitors of NaV1.7 with Efficacy in Rodent Pain Models
Thilo Focken et al. · ACS Medicinal Chemistry Letters
Open access |
19 Jan 2016 |
73 |
| 49 |
Safety and Efficacy of a Topical Sodium Channel Inhibitor (TV-45070) in Patients With Postherpetic Neuralgia (PHN)
Nicola Price, Rostam Namdari, Judith Neville et al. · Clinical Journal of Pain
Open access |
16 Jul 2016 |
69 |
| 50 |
Cannabidiol inhibits the skeletal muscle Nav1.4 by blocking its pore and by altering membrane elasticity
Mohammad‐Reza Ghovanloo, Koushik Choudhury, Tagore Sanketh Bandaru et al. · The Journal of General Physiology
Open access |
17 Mar 2021 |
66 |