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KCNK3 Mutation Causes Altered Immune Function in Pulmonary Arterial Hypertension Patients and Mouse Models.
West JD, Austin ED, Rizzi EM, Yan L, Tanjore H, Crabtree AL, Moore CS, Muthian G, Carrier EJ, Jacobson DA, Hamid R, Kendall PL, Majka S, Rathinasabapathy A
(2021) Int J Mol Sci 22:
MeSH Terms: Animals, Biomarkers, Case-Control Studies, Cytokines, Disease Models, Animal, Disease Susceptibility, Gene Expression Profiling, Genetic Predisposition to Disease, Humans, Hypoxia, Immunomodulation, Lymphocytes, Mice, Mice, Knockout, Models, Biological, Monocytes, Mutation, Nerve Tissue Proteins, Potassium Channels, Tandem Pore Domain, Pulmonary Arterial Hypertension, Transcriptome
Added June 14, 2021
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21 MeSH Terms
Temporal manipulation of KCC3 expression in juvenile or adult mice suggests irreversible developmental deficit in hereditary motor sensory neuropathy with agenesis of the corpus callosum.
Flores B, Delpire E
(2021) Am J Physiol Cell Physiol 320: C722-C730
MeSH Terms: Age Factors, Agenesis of Corpus Callosum, Animals, Behavior, Animal, Disease Models, Animal, Female, Ganglia, Spinal, Gene Expression Regulation, Developmental, Genetic Predisposition to Disease, Genetic Therapy, Male, Mice, Inbred C57BL, Mice, Knockout, Motor Activity, Parvalbumins, Peripheral Nervous System Diseases, Phenotype, Postural Balance, Rotarod Performance Test, Symporters
Added February 26, 2021
1 Communities
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20 MeSH Terms
A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Genes for Pancreatic Cancer Risk.
Liu D, Zhou D, Sun Y, Zhu J, Ghoneim D, Wu C, Yao Q, Gamazon ER, Cox NJ, Wu L
(2020) Cancer Res 80: 4346-4354
MeSH Terms: Age Factors, Case-Control Studies, European Continental Ancestry Group, Female, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Models, Genetic, Pancreatic Neoplasms, Polymorphism, Single Nucleotide
Added September 15, 2020
0 Communities
1 Members
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12 MeSH Terms
New genetic predictors for abacavir tolerance in HLA-B*57:01 positive individuals.
Pavlos R, Deshpande P, Chopra A, Leary S, Strautins K, Nolan D, Thorborn D, Shaefer M, Rauch A, Dunn D, Montaner J, Rachlis A, Almeida CA, Choo L, James I, Redwood AJ, Li Y, Gaudieri S, Mallal SA, Phillips EJ
(2020) Hum Immunol 81: 300-304
MeSH Terms: Allergens, Aminopeptidases, Anti-HIV Agents, Dideoxynucleosides, Drug Hypersensitivity Syndrome, Drug-Related Side Effects and Adverse Reactions, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, HIV Infections, HIV-1, HLA-B Antigens, Humans, Lipopolysaccharide Receptors, Male, Minor Histocompatibility Antigens, Phenotype, Retrospective Studies
Added March 30, 2020
0 Communities
1 Members
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19 MeSH Terms
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
Feng H, Gusev A, Pasaniuc B, Wu L, Long J, Abu-Full Z, Aittomäki K, Andrulis IL, Anton-Culver H, Antoniou AC, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Białkowska K, Blanco A, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brüning T, Burwinkel B, Cai Q, Caldés T, Caligo MA, Campbell I, Canisius S, Campa D, Carter BD, Carter J, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL, GEMO Study Collaborators, EMBRACE Collaborators, GC-HBOC study Collaborators, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, De Leeneer K, Dennis J, Devilee P, Diez O, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching PA, Fletcher O, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gabrielson M, Ganz PA, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hamann U, Hake C, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Huang G, Hulick PJ, Humphreys K, Imyanitov EN, ABCTB Investigators, HEBON Investigators, BCFR Investigators, OCGN Investigators, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz RC, John EM, Johnson N, Joseph V, Jung A, Karlan BY, Khusnutdinova E, Kiiski JI, Konstantopoulou I, Kristensen VN, Laitman Y, Lambrechts D, Lazaro C, Leroux D, Leslie G, Lester J, Lesueur F, Lindor N, Lindström S, Lo WY, Loud JT, Lubiński J, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Martinez ME, Matricardi L, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Kapoor PM, Miller A, Montagna M, Moreno F, Moserle L, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Nielsen FC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olsson H, Osorio A, Papp J, Park-Simon TW, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Plaseska-Karanfilska D, Poppe B, Pradhan N, Prajzendanc K, Presneau N, Punie K, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Risch HA, Robson M, Romero A, Saloustros E, Sandler DP, Santos C, Sawyer EJ, Schmidt MK, Schmidt DF, Schmutzler RK, Schoemaker MJ, Scott RJ, Sharma P, Shu XO, Simard J, Singer CF, Skytte AB, Soucy P, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Swerdlow AJ, Tapper WJ, Taylor JA, Teixeira MR, Terry MB, Teulé A, Thomassen M, Thöne K, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Torres D, Truong T, Tung N, Vachon CM, van Asperen CJ, van den Ouweland AMW, van Rensburg EJ, Vega A, Viel A, Vieiro-Balo P, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Winqvist R, Yang XR, Yannoukakos D, Ziogas A, Milne RL, Easton DF, Chenevix-Trench G, Zheng W, Kraft P, Jiang X
(2020) Genet Epidemiol 44: 442-468
MeSH Terms: Breast Neoplasms, Estrogens, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomics, Humans, Receptors, Estrogen, Risk Assessment, Transcriptome, Vesicular Transport Proteins
Added March 3, 2020
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11 MeSH Terms
Genetic Susceptibility for Atrial Fibrillation in Patients Undergoing Atrial Fibrillation Ablation.
Shoemaker MB, Husser D, Roselli C, Al Jazairi M, Chrispin J, Kühne M, Neumann B, Knight S, Sun H, Mohanty S, Shaffer C, Thériault S, Rinke LL, Siland JE, Crawford DM, Ueberham L, Zardkoohi O, Büttner P, Geelhoed B, Blum S, Aeschbacher S, Smith JD, Van Wagoner DR, Freudling R, Müller-Nurasyid M, Montgomery J, Yoneda Z, Wells Q, Issa T, Weeke P, Jacobs V, Van Gelder IC, Hindricks G, Barnard J, Calkins H, Darbar D, Michaud G, Kääb S, Ellinor P, Natale A, Chung M, Nazarian S, Cutler MJ, Sinner MF, Conen D, Rienstra M, Bollmann A, Roden DM, Lubitz S
(2020) Circ Arrhythm Electrophysiol 13: e007676
MeSH Terms: Aged, Atrial Fibrillation, Body Surface Potential Mapping, Catheter Ablation, Female, Follow-Up Studies, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Preoperative Period, Prognosis, Prospective Studies, Recurrence
Added March 24, 2020
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1 Members
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16 MeSH Terms
Predictive Accuracy of a Polygenic Risk Score Compared With a Clinical Risk Score for Incident Coronary Heart Disease.
Mosley JD, Gupta DK, Tan J, Yao J, Wells QS, Shaffer CM, Kundu S, Robinson-Cohen C, Psaty BM, Rich SS, Post WS, Guo X, Rotter JI, Roden DM, Gerszten RE, Wang TJ
(2020) JAMA 323: 627-635
MeSH Terms: Aged, Cohort Studies, Coronary Disease, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Incidence, Male, Middle Aged, Multifactorial Inheritance, Myocardial Infarction, Odds Ratio, Phenotype, Polymorphism, Single Nucleotide, Predictive Value of Tests, Proportional Hazards Models, Retrospective Studies, Risk, Risk Assessment
Added March 24, 2020
0 Communities
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MeSH Terms
Genome-wide meta-analysis associates GPSM1 with type 2 diabetes, a plausible gene involved in skeletal muscle function.
Ding Q, Tan ALM, Parra EJ, Cruz M, Sim X, Teo YY, Long J, Alsafar H, Petretto E, Tai ES, Chen H
(2020) J Hum Genet 65: 411-420
MeSH Terms: Animals, Asian Continental Ancestry Group, Diabetes Mellitus, Experimental, Diabetes Mellitus, Type 2, Genetic Predisposition to Disease, Genome-Wide Association Study, Guanine Nucleotide Dissociation Inhibitors, Humans, Mice, Muscle, Skeletal, Polymorphism, Single Nucleotide
Added March 3, 2020
0 Communities
1 Members
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11 MeSH Terms
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, Kar S, Pooley KA, Dennis J, Michailidou K, Turman C, Soucy P, Lemaçon A, Lush M, Tyrer JP, Ghoussaini M, Moradi Marjaneh M, Jiang X, Agata S, Aittomäki K, Alonso MR, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Aronson KJ, Arun BK, Auber B, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Beeghly-Fadiel A, Benitez J, Bermisheva M, Białkowska K, Blanco AM, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Bosse K, Brauch H, Brenner H, Briceno I, Brock IW, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldés T, Caligo MA, Camp NJ, Campbell I, Canzian F, Carroll JS, Carter BD, Castelao JE, Chiquette J, Christiansen H, Chung WK, Claes KBM, Clarke CL, GEMO Study Collaborators, EMBRACE Collaborators, Collée JM, Cornelissen S, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Domchek SM, Dörk T, Dos-Santos-Silva I, Droit A, Dubois S, Dumont M, Duran M, Durcan L, Dwek M, Eccles DM, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Floris G, Flyger H, Foretova L, Foulkes WD, Friedman E, Fritschi L, Frost D, Gabrielson M, Gago-Dominguez M, Gambino G, Ganz PA, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Georgoulias V, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Tibiletti MG, Greene MH, Grip M, Gronwald J, Grundy A, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hartikainen JM, Hartman M, He W, Healey CS, Heemskerk-Gerritsen BAM, Heyworth J, Hillemanns P, Hogervorst FBL, Hollestelle A, Hooning MJ, Hopper JL, Howell A, Huang G, Hulick PJ, Imyanitov EN, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Isaacs C, Iwasaki M, Jager A, Jakimovska M, Jakubowska A, James PA, Janavicius R, Jankowitz RC, John EM, Johnson N, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kang D, Kapoor PM, Karlan BY, Keeman R, Kerin MJ, Khusnutdinova E, Kiiski JI, Kirk J, Kitahara CM, Ko YD, Konstantopoulou I, Kosma VM, Koutros S, Kubelka-Sabit K, Kwong A, Kyriacou K, Laitman Y, Lambrechts D, Lee E, Leslie G, Lester J, Lesueur F, Lindblom A, Lo WY, Long J, Lophatananon A, Loud JT, Lubiński J, MacInnis RJ, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Matsuo K, Maurer T, Mavroudis D, Mayes R, McGuffog L, McLean C, Mebirouk N, Meindl A, Miller A, Miller N, Montagna M, Moreno F, Muir K, Mulligan AM, Muñoz-Garzon VM, Muranen TA, Narod SA, Nassir R, Nathanson KL, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nikitina-Zake L, Norman A, Offit K, Olah E, Olopade OI, Olsson H, Orr N, Osorio A, Pankratz VS, Papp J, Park SK, Park-Simon TW, Parsons MT, Paul J, Pedersen IS, Peissel B, Peshkin B, Peterlongo P, Peto J, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Prokofyeva D, Pujana MA, Pylkäs K, Radice P, Ramus SJ, Rantala J, Rau-Murthy R, Rennert G, Risch HA, Robson M, Romero A, Rossing M, Saloustros E, Sánchez-Herrero E, Sandler DP, Santamariña M, Saunders C, Sawyer EJ, Scheuner MT, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schöttker B, Schürmann P, Scott C, Scott RJ, Senter L, Seynaeve CM, Shah M, Sharma P, Shen CY, Shu XO, Singer CF, Slavin TP, Smichkoska S, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Stoppa-Lyonnet D, Sutter C, Swerdlow AJ, Tamimi RM, Tan YY, Tapper WJ, Taylor JA, Teixeira MR, Tengström M, Teo SH, Terry MB, Teulé A, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Torres-Mejía G, Troester MA, Truong T, Tung N, Tzardi M, Ulmer HU, Vachon CM, van Asperen CJ, van der Kolk LE, van Rensburg EJ, Vega A, Viel A, Vijai J, Vogel MJ, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wildiers H, Winqvist R, Wolk A, Wu AH, Yannoukakos D, Zhang Y, Zheng W, Hunter D, Pharoah PDP, Chang-Claude J, García-Closas M, Schmidt MK, Milne RL, Kristensen VN, French JD, Edwards SL, Antoniou AC, Chenevix-Trench G, Simard J, Easton DF, Kraft P, Dunning AM
(2020) Nat Genet 52: 56-73
MeSH Terms: Bayes Theorem, Biomarkers, Tumor, Breast Neoplasms, Chromosome Mapping, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Regulatory Sequences, Nucleic Acid, Risk Factors
Added March 3, 2020
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13 MeSH Terms
Discovery of rare coding variants in OGDHL and BRCA2 in relation to breast cancer risk in Chinese women.
Guo X, Long J, Chen Z, Shu XO, Xiang YB, Wen W, Zeng C, Gao YT, Cai Q, Zheng W
(2020) Int J Cancer 146: 2175-2181
MeSH Terms: Adult, Aged, BRCA2 Protein, Breast Neoplasms, Case-Control Studies, China, Databases, Genetic, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, Ketoglutarate Dehydrogenase Complex, Middle Aged, Mutation, Missense, Whole Exome Sequencing
Added March 3, 2020
0 Communities
1 Members
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15 MeSH Terms