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Connection

Joaquin Espinosa to Down Syndrome

This is a "connection" page, showing publications Joaquin Espinosa has written about Down Syndrome.

 
Connection Strength
 
 
 
7.191
 
  1. Santoro JD, Eduthan NP, Khoshnood MM, Jafarpour S, Boyd NK, Vogel BN, Nguyen L, Kazerooni L, Britton E, Lyford HR, Galbraith MD, Rachubinski AL, Espinosa JM. Evidence of blood-brain barrier dysfunction and CSF immunoglobulin synthesis in Down Syndrome Regression Disorder. Ann Clin Transl Neurol. 2025 Apr; 12(4):805-820.
    View in: PubMed
    Score: 0.600
  2. Rachubinski AL, Patel LR, Sannar EM, Kammeyer RM, Sanders J, Enriquez-Estrada BA, Worek KR, Fidler DJ, Santoro JD, Espinosa JM. JAK inhibition in Down Syndrome Regression Disorder. J Neuroimmunol. 2024 10 15; 395:578442.
    View in: PubMed
    Score: 0.579
  3. Donovan MG, Rachubinski AL, Smith KP, Araya P, Waugh KA, Enriquez-Estrada B, Britton EC, Lyford HR, Granrath RE, Schade KA, Kinning KT, Paul Eduthan N, Sullivan KD, Galbraith MD, Espinosa JM. Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome. Cell Rep. 2024 08 27; 43(8):114599.
    View in: PubMed
    Score: 0.577
  4. Donovan MG, Eduthan NP, Smith KP, Britton EC, Lyford HR, Araya P, Granrath RE, Waugh KA, Enriquez Estrada B, Rachubinski AL, Sullivan KD, Galbraith MD, Espinosa JM. Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome. Nat Commun. 2024 Jun 28; 15(1):5473.
    View in: PubMed
    Score: 0.573
  5. Galbraith MD, Rachubinski AL, Smith KP, Araya P, Waugh KA, Enriquez-Estrada B, Worek K, Granrath RE, Kinning KT, Paul Eduthan N, Ludwig MP, Hsieh EWY, Sullivan KD, Espinosa JM. Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition. Sci Adv. 2023 06 28; 9(26):eadg6218.
    View in: PubMed
    Score: 0.534
  6. Waugh KA, Minter R, Baxter J, Chi C, Galbraith MD, Tuttle KD, Eduthan NP, Kinning KT, Andrysik Z, Araya P, Dougherty H, Dunn LN, Ludwig M, Schade KA, Tracy D, Smith KP, Granrath RE, Busquet N, Khanal S, Anderson RD, Cox LL, Estrada BE, Rachubinski AL, Lyford HR, Britton EC, Fantauzzo KA, Orlicky DJ, Matsuda JL, Song K, Cox TC, Sullivan KD, Espinosa JM. Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model. Nat Genet. 2023 06; 55(6):1034-1047.
    View in: PubMed
    Score: 0.532
  7. Araya P, Kinning KT, Coughlan C, Smith KP, Granrath RE, Enriquez-Estrada BA, Worek K, Sullivan KD, Rachubinski AL, Wolter-Warmerdam K, Hickey F, Galbraith MD, Potter H, Espinosa JM. IGF1 deficiency integrates stunted growth and neurodegeneration in Down syndrome. Cell Rep. 2022 12 27; 41(13):111883.
    View in: PubMed
    Score: 0.516
  8. Pham AT, Rachubinski AL, Enriquez-Estrada B, Worek K, Griffith M, Espinosa JM. JAK inhibition for treatment of psoriatic arthritis in Down syndrome. Rheumatology (Oxford). 2021 09 01; 60(9):e309-e311.
    View in: PubMed
    Score: 0.471
  9. Espinosa JM. Down Syndrome and COVID-19: A Perfect Storm? Cell Rep Med. 2020 05 19; 1(2):100019.
    View in: PubMed
    Score: 0.429
  10. Waugh KA, Araya P, Pandey A, Jordan KR, Smith KP, Granrath RE, Khanal S, Butcher ET, Estrada BE, Rachubinski AL, McWilliams JA, Minter R, Dimasi T, Colvin KL, Baturin D, Pham AT, Galbraith MD, Bartsch KW, Yeager ME, Porter CC, Sullivan KD, Hsieh EW, Espinosa JM. Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome. Cell Rep. 2019 11 12; 29(7):1893-1908.e4.
    View in: PubMed
    Score: 0.416
  11. Powers RK, Culp-Hill R, Ludwig MP, Smith KP, Waugh KA, Minter R, Tuttle KD, Lewis HC, Rachubinski AL, Granrath RE, Carmona-Iragui M, Wilkerson RB, Kahn DE, Joshi M, Lle? A, Blesa R, Fortea J, D'Alessandro A, Costello JC, Sullivan KD, Espinosa JM. Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors. Nat Commun. 2019 10 18; 10(1):4766.
    View in: PubMed
    Score: 0.414
  12. Feldman ER, Li Y, Cutler DJ, Rosser TC, Wechsler SB, Sanclemente L, Rachubinski AL, Elliott N, Vyas P, Roberts I, Rabin KR, Wagner M, Gelb BD, Espinosa JM, Lupo PJ, de Smith AJ, Sherman SL, Leslie-Clarkson EJ. Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS. Genet Epidemiol. 2025 Jun; 49(4):e70010.
    View in: PubMed
    Score: 0.153
  13. Gillenwater LA, Galbraith MD, Rachubinski AL, Eduthan NP, Sullivan KD, Espinosa JM, Costello JC. Integrated analysis of immunometabolic interactions in Down syndrome. Sci Adv. 2024 Dec 13; 10(50):eadq3073.
    View in: PubMed
    Score: 0.148
  14. Santoro JD, Khoshnood MM, Jafarpour S, Nguyen L, Boyd NK, Vogel BN, Kammeyer R, Patel L, Manning MA, Rachubinski AL, Filipink RA, Baumer NT, Santoro SL, Franklin C, Tamrazi B, Yeom KW, Worley G, Espinosa JM, Rafii MS. Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder. Ann Clin Transl Neurol. 2024 Apr; 11(4):1034-1045.
    View in: PubMed
    Score: 0.140
  15. DeBoer EM, Wolter-Warmerdam K, Deterding RR, Marmolejo J, Blumenthal T, Espinosa JM, Hickey F, Wagner BD. Cardiopulmonary Phenotypes and Protein Signatures in Children With Down Syndrome. Clin Pediatr (Phila). 2024 May; 63(4):474-481.
    View in: PubMed
    Score: 0.133
  16. McCurdy BL, Jewett CE, Stemm-Wolf AJ, Duc HN, Joshi M, Espinosa JM, Prekeris R, Pearson CG. Trisomy 21 increases microtubules and disrupts centriolar satellite localization. Mol Biol Cell. 2022 07 01; 33(8).
    View in: PubMed
    Score: 0.123
  17. Liggett LA, Galbraith MD, Smith KP, Sullivan KD, Granrath RE, Enriquez-Estrada B, Kinning KT, Shaw JR, Rachubinski AL, Espinosa JM, DeGregori J. Precocious clonal hematopoiesis in Down syndrome is accompanied by immune dysregulation. Blood Adv. 2021 04 13; 5(7):1791-1796.
    View in: PubMed
    Score: 0.115
  18. Vita S, Di Bari V, Corpolongo A, Goletti D, Espinosa J, Petracca S, Palmieri F, Nicastri E. Down Syndrome patients with COVID-19 pneumonia: A high-risk category for unfavourable outcome. Int J Infect Dis. 2021 Feb; 103:607-610.
    View in: PubMed
    Score: 0.112
  19. Tuttle KD, Waugh KA, Araya P, Minter R, Orlicky DJ, Ludwig M, Andrysik Z, Burchill MA, Tamburini BAJ, Sempeck C, Smith K, Granrath R, Tracy D, Baxter J, Espinosa JM, Sullivan KD. JAK1 Inhibition Blocks Lethal Immune Hypersensitivity in a Mouse Model of Down Syndrome. Cell Rep. 2020 11 17; 33(7):108407.
    View in: PubMed
    Score: 0.111
  20. Deigendesch N, Hirsiger JR, Bigler MB, Ghosh A, Harder D, Jauch A, Espinosa JM, Recher M, Navarini A, Daikeler T, Berger CT. Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling. Rheumatology (Oxford). 2020 11 01; 59(11):e102-e104.
    View in: PubMed
    Score: 0.111
  21. Snyder HM, Bain LJ, Brickman AM, Carrillo MC, Esbensen AJ, Espinosa JM, Fernandez F, Fortea J, Hartley SL, Head E, Hendrix J, Kishnani PS, Lai F, Lao P, Lemere C, Mobley W, Mufson EJ, Potter H, Zaman SH, Granholm AC, Rosas HD, Strydom A, Whitten MS, Rafii MS. Further understanding the connection between Alzheimer's disease and Down syndrome. Alzheimers Dement. 2020 07; 16(7):1065-1077.
    View in: PubMed
    Score: 0.108
  22. Galati DF, Sullivan KD, Pham AT, Espinosa JM, Pearson CG. Trisomy 21 Represses Cilia Formation and Function. Dev Cell. 2018 09 10; 46(5):641-650.e6.
    View in: PubMed
    Score: 0.095
  23. Sullivan KD, Evans D, Pandey A, Hraha TH, Smith KP, Markham N, Rachubinski AL, Wolter-Warmerdam K, Hickey F, Espinosa JM, Blumenthal T. Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation. Sci Rep. 2017 11 01; 7(1):14818.
    View in: PubMed
    Score: 0.090
  24. Hamlett ED, Ledreux A, Potter H, Chial HJ, Patterson D, Espinosa JM, Bettcher BM, Granholm AC. Exosomal biomarkers in Down syndrome and Alzheimer's disease. Free Radic Biol Med. 2018 01; 114:110-121.
    View in: PubMed
    Score: 0.089
  25. Andrews FH, Tong Q, Sullivan KD, Cornett EM, Zhang Y, Ali M, Ahn J, Pandey A, Guo AH, Strahl BD, Costello JC, Espinosa JM, Rothbart SB, Kutateladze TG. Multivalent Chromatin Engagement and Inter-domain Crosstalk Regulate MORC3 ATPase. Cell Rep. 2016 09 20; 16(12):3195-3207.
    View in: PubMed
    Score: 0.021
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

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