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Intermediate phenotype

MedGen UID:
468402
•Concept ID:
CN118023
•
Disease or Syndrome

Term Hierarchy

Professional guidelines

PubMed

Impaired inhibition as an intermediate phenotype for PTSD risk and treatment response.
van Rooij SJH, Jovanovic T
Prog Neuropsychopharmacol Biol Psychiatry 2019 Mar 8;89:435-445. Epub 2018 Oct 28 doi: 10.1016/j.pnpbp.2018.10.014. PMID: 30381236Free PMC Article
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F
Nat Genet 2017 Oct;49(10):1529-1538. Epub 2017 Aug 14 doi: 10.1038/ng.3933. PMID: 28805828Free PMC Article
Intermediate phenotypes and biomarkers of treatment outcome in major depressive disorder.
Leuchter AF, Hunter AM, Krantz DE, Cook IA
Dialogues Clin Neurosci 2014 Dec;16(4):525-37. doi: 10.31887/DCNS.2014.16.4/aleuchter. PMID: 25733956Free PMC Article

Recent clinical studies

Etiology

Loci for insulin processing and secretion provide insight into type 2 diabetes risk.
Broadaway KA, Yin X, Williamson A, Parsons VA, Wilson EP, Moxley AH, Vadlamudi S, Varshney A, Jackson AU, Ahuja V, Bornstein SR, Corbin LJ, Delgado GE, Dwivedi OP, Fernandes Silva L, Frayling TM, Grallert H, Gustafsson S, Hakaste L, Hammar U, Herder C, Herrmann S, Højlund K, Hughes DA, Kleber ME, Lindgren CM, Liu CT, Luan J, Malmberg A, Moissl AP, Morris AP, Perakakis N, Peters A, Petrie JR, Roden M, Schwarz PEH, Sharma S, Silveira A, Strawbridge RJ, Tuomi T, Wood AR, Wu P, Zethelius B, Baldassarre D, Eriksson JG, Fall T, Florez JC, Fritsche A, Gigante B, Hamsten A, Kajantie E, Laakso M, Lahti J, Lawlor DA, Lind L, März W, Meigs JB, Sundström J, Timpson NJ, Wagner R, Walker M, Wareham NJ, Watkins H, Barroso I, O'Rahilly S, Grarup N, Parker SC, Boehnke M, Langenberg C, Wheeler E, Mohlke KL
Am J Hum Genet 2023 Feb 2;110(2):284-299. Epub 2023 Jan 23 doi: 10.1016/j.ajhg.2023.01.002. PMID: 36693378Free PMC Article
Advances in integrative African genomics.
Zhang C, Hansen MEB, Tishkoff SA
Trends Genet 2022 Feb;38(2):152-168. Epub 2021 Nov 2 doi: 10.1016/j.tig.2021.09.013. PMID: 34740451Free PMC Article
Impaired inhibition as an intermediate phenotype for PTSD risk and treatment response.
van Rooij SJH, Jovanovic T
Prog Neuropsychopharmacol Biol Psychiatry 2019 Mar 8;89:435-445. Epub 2018 Oct 28 doi: 10.1016/j.pnpbp.2018.10.014. PMID: 30381236Free PMC Article
Cognitive intermediate phenotype and genetic risk for psychosis.
Mark W, Toulopoulou T
Curr Opin Neurobiol 2016 Feb;36:23-30. Epub 2015 Sep 9 doi: 10.1016/j.conb.2015.08.008. PMID: 26363129
Genetics.
Domschke K, Deckert J
Curr Top Behav Neurosci 2010;2:63-75. PMID: 21309106

Diagnosis

Challenges and Approach to Identifying Individuals with Salt Sensitivity of Blood Pressure.
Parksook WW, Williams GH
Am J Nephrol 2022;53(11-12):847-855. Epub 2023 Jan 11 doi: 10.1159/000529057. PMID: 36630945
Genetics of Human Primary Hypertension: Focus on Hormonal Mechanisms.
Manosroi W, Williams GH
Endocr Rev 2019 Jun 1;40(3):825-856. doi: 10.1210/er.2018-00071. PMID: 30590482Free PMC Article
Molecular imaging in genetics.
Leite J, Hespanhol R, Buchpiguel CA
Neuroimaging Clin N Am 2015 Feb;25(1):17-29. Epub 2014 Oct 18 doi: 10.1016/j.nic.2014.09.005. PMID: 25476510
Disc degeneration-related clinical phenotypes.
Battié MC, Lazáry A, Fairbank J, Eisenstein S, Heywood C, Brayda-Bruno M, Varga PP, McCall I
Eur Spine J 2014 Jun;23 Suppl 3:S305-14. Epub 2013 Jul 25 doi: 10.1007/s00586-013-2903-5. PMID: 23884550
Metabolomics and atherosclerosis.
Goonewardena SN, Prevette LE, Desai AA
Curr Atheroscler Rep 2010 Jul;12(4):267-72. doi: 10.1007/s11883-010-0112-9. PMID: 20464531Free PMC Article

Therapy

Large scale plasma proteomics identifies novel proteins and protein networks associated with heart failure development.
Shah AM, Myhre PL, Arthur V, Dorbala P, Rasheed H, Buckley LF, Claggett B, Liu G, Ma J, Nguyen NQ, Matsushita K, Ndumele C, Tin A, Hveem K, Jonasson C, Dalen H, Boerwinkle E, Hoogeveen RC, Ballantyne C, Coresh J, Omland T, Yu B
Nat Commun 2024 Jan 15;15(1):528. doi: 10.1038/s41467-023-44680-3. PMID: 38225249Free PMC Article
Challenges and Approach to Identifying Individuals with Salt Sensitivity of Blood Pressure.
Parksook WW, Williams GH
Am J Nephrol 2022;53(11-12):847-855. Epub 2023 Jan 11 doi: 10.1159/000529057. PMID: 36630945
The paradigm of immunosenescence in atherosclerosis-cardiovascular disease (ASCVD).
Laderoute M
Discov Med 2020 Jan-Feb;29(156):41-51. PMID: 32598862
Muscarinic M1 and M4 receptors: Hypothesis driven drug development for schizophrenia.
Dean B, Scarr E
Psychiatry Res 2020 Jun;288:112989. Epub 2020 Apr 13 doi: 10.1016/j.psychres.2020.112989. PMID: 32315882
Intermediate phenotypes and biomarkers of treatment outcome in major depressive disorder.
Leuchter AF, Hunter AM, Krantz DE, Cook IA
Dialogues Clin Neurosci 2014 Dec;16(4):525-37. doi: 10.31887/DCNS.2014.16.4/aleuchter. PMID: 25733956Free PMC Article

Prognosis

New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
Merlini L, Sabatelli P, Gualandi F, Redivo E, Di Martino A, Faldini C
Int J Mol Sci 2023 Aug 5;24(15) doi: 10.3390/ijms241512474. PMID: 37569848Free PMC Article
Current Knowledge of Asthma-COPD Overlap (ACO) Genetic Risk Factors, Characteristics, and Prognosis.
Odimba U, Senthilselvan A, Farrell J, Gao Z
COPD 2021 Oct;18(5):585-595. Epub 2021 Sep 24 doi: 10.1080/15412555.2021.1980870. PMID: 34555990
Impaired Respiratory Health and Life Course Transitions From Health to Chronic Lung Disease.
Liu GY, Kalhan R
Chest 2021 Sep;160(3):879-889. Epub 2021 Apr 15 doi: 10.1016/j.chest.2021.04.009. PMID: 33865834Free PMC Article
Neuroimaging genetic approaches to Posttraumatic Stress Disorder.
Lebois LAM, Wolff JD, Ressler KJ
Exp Neurol 2016 Oct;284(Pt B):141-152. Epub 2016 Apr 22 doi: 10.1016/j.expneurol.2016.04.019. PMID: 27109180Free PMC Article
Intermediate phenotypes and biomarkers of treatment outcome in major depressive disorder.
Leuchter AF, Hunter AM, Krantz DE, Cook IA
Dialogues Clin Neurosci 2014 Dec;16(4):525-37. doi: 10.31887/DCNS.2014.16.4/aleuchter. PMID: 25733956Free PMC Article

Clinical prediction guides

Challenges and Approach to Identifying Individuals with Salt Sensitivity of Blood Pressure.
Parksook WW, Williams GH
Am J Nephrol 2022;53(11-12):847-855. Epub 2023 Jan 11 doi: 10.1159/000529057. PMID: 36630945
Human airway mast cells proliferate and acquire distinct inflammation-driven phenotypes during type 2 inflammation.
Dwyer DF, Ordovas-Montanes J, Allon SJ, Buchheit KM, Vukovic M, Derakhshan T, Feng C, Lai J, Hughes TK, Nyquist SK, Giannetti MP, Berger B, Bhattacharyya N, Roditi RE, Katz HR, Nawijn MC, Berg M, van den Berge M, Laidlaw TM, Shalek AK, Barrett NA, Boyce JA
Sci Immunol 2021 Feb 26;6(56) doi: 10.1126/sciimmunol.abb7221. PMID: 33637594Free PMC Article
The paradigm of immunosenescence in atherosclerosis-cardiovascular disease (ASCVD).
Laderoute M
Discov Med 2020 Jan-Feb;29(156):41-51. PMID: 32598862
Cognitive intermediate phenotype and genetic risk for psychosis.
Mark W, Toulopoulou T
Curr Opin Neurobiol 2016 Feb;36:23-30. Epub 2015 Sep 9 doi: 10.1016/j.conb.2015.08.008. PMID: 26363129
Disc degeneration-related clinical phenotypes.
Battié MC, Lazáry A, Fairbank J, Eisenstein S, Heywood C, Brayda-Bruno M, Varga PP, McCall I
Eur Spine J 2014 Jun;23 Suppl 3:S305-14. Epub 2013 Jul 25 doi: 10.1007/s00586-013-2903-5. PMID: 23884550

Recent systematic reviews

Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Gómez-Garre P, Jesús S, Periñán MT, Adarmes A, Alonso-Canovas A, Blanco-Ollero A, Buiza-Rueda D, Carrillo F, Catalán-Alonso MJ, Del Val J, Escamilla-Sevilla F, Espinosa-Rosso R, Fernández-Moreno MC, García-Moreno JM, García-Ruiz PJ, Giacometti-Silveira S, Gutiérrez-García J, López-Valdés E, Macías-García D, Martínez-Castrillo JC, Martínez-Torres I, Medialdea-Natera MP, Mínguez-Castellanos A, Moya MÁ, Ochoa-Sepulveda JJ, Ojea T, Rodríguez N, Sillero-Sánchez M, Tejera-Parrado C, Mir P
Eur J Neurol 2021 Apr;28(4):1188-1197. Epub 2020 Dec 6 doi: 10.1111/ene.14638. PMID: 33175450
Neural signatures of the risk for bipolar disorder: A meta-analysis of structural and functional neuroimaging studies.
Cattarinussi G, Di Giorgio A, Wolf RC, Balestrieri M, Sambataro F
Bipolar Disord 2019 May;21(3):215-227. Epub 2018 Dec 14 doi: 10.1111/bdi.12720. PMID: 30444299
Motor dysfunction as research domain in the period preceding manifest schizophrenia: A systematic review.
Hirjak D, Meyer-Lindenberg A, Kubera KM, Thomann PA, Wolf RC
Neurosci Biobehav Rev 2018 Apr;87:87-105. Epub 2018 Feb 20 doi: 10.1016/j.neubiorev.2018.01.011. PMID: 29410313
Genetic effects on carotid intima-media thickness: systematic assessment and meta-analyses of candidate gene polymorphisms studied in more than 5000 subjects.
Paternoster L, Martinez-Gonzalez NA, Charleton R, Chung M, Lewis S, Sudlow CL
Circ Cardiovasc Genet 2010 Feb;3(1):15-21. Epub 2009 Dec 11 doi: 10.1161/CIRCGENETICS.108.834366. PMID: 20160191
Association between apolipoprotein E genotype and carotid intima-media thickness may suggest a specific effect on large artery atherothrombotic stroke.
Paternoster L, Martínez González NA, Lewis S, Sudlow C
Stroke 2008 Jan;39(1):48-54. Epub 2007 Dec 6 doi: 10.1161/STROKEAHA.107.488866. PMID: 18063831Free PMC Article

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