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Items: 1 to 50 of 347


Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS).

Lisco A, Wong CS, Price S, Ye P, Niemela J, Anderson M, Richards E, Manion M, Mystakelis H, Similuk M, Lo B, Stoddard J, Rosenzweig S, Vanpouille C, Rupert A, Maric I, Perez-Diez A, Parenti D, Rao VK, Sereti I.

Front Immunol. 2019 May 29;10:1193. doi: 10.3389/fimmu.2019.01193. eCollection 2019.


PI3K pathway defects leading to immunodeficiency and immune dysregulation.

Nunes-Santos CJ, Uzel G, Rosenzweig SD.

J Allergy Clin Immunol. 2019 May;143(5):1676-1687. doi: 10.1016/j.jaci.2019.03.017. Review.


Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices.

Daley SR, Koay HF, Dobbs K, Bosticardo M, Wirasinha RC, Pala F, Castagnoli R, Rowe JH, Ott de Bruin LM, Keles S, Lee YN, Somech R, Holland SM, Delmonte OM, Draper D, Maxwell S, Niemela J, Stoddard J, Rosenzweig SD, Poliani PL, Capo V, Villa A, Godfrey DI, Notarangelo LD.

J Allergy Clin Immunol. 2019 Apr 30. pii: S0091-6749(19)30475-0. doi: 10.1016/j.jaci.2019.03.022. [Epub ahead of print] No abstract available.


Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening.

Purswani P, Meehan CA, Kuehn HS, Chang Y, Dasso JF, Meyer AK, Ujhazi B, Csomos K, Lindsay D, Alberdi T, Joychan S, Trotter J, Duff C, Ellison M, Bleesing J, Kumanovics A, Comeau AM, Hale JE, Notarangelo LD, Torgersen TR, Ochs HD, Sriaroon P, Oshrine B, Petrovic A, Rosenzweig SD, Leiding JW, Walter JE.

Front Pediatr. 2019 Apr 5;7:55. doi: 10.3389/fped.2019.00055. eCollection 2019.


Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations.

Kellner ES, Krupski C, Kuehn HS, Rosenzweig SD, Yoshida N, Kojima S, Boutboul D, Latour S, Barlogis V, Galambrun C, Stray-Pedersen A, Erichsen HC, Marsh RA.

J Allergy Clin Immunol. 2019 Apr 6. pii: S0091-6749(19)30481-6. doi: 10.1016/j.jaci.2019.03.025. [Epub ahead of print] No abstract available.


Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC.

Oda H, Beck DB, Kuehn HS, Sampaio Moura N, Hoffmann P, Ibarra M, Stoddard J, Tsai WL, Gutierrez-Cruz G, Gadina M, Rosenzweig SD, Kastner DL, Notarangelo LD, Aksentijevich I.

Front Immunol. 2019 Mar 18;10:479. doi: 10.3389/fimmu.2019.00479. eCollection 2019.


Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies.

Karanovic D, Michelow IC, Hayward AR, DeRavin SS, Delmonte OM, Grigg ME, Dobbs AK, Niemela JE, Stoddard J, Alhinai Z, Rybak N, Hernandez N, Pittaluga S, Rosenzweig SD, Uzel G, Notarangelo LD.

Front Immunol. 2019 Feb 14;10:77. doi: 10.3389/fimmu.2019.00077. eCollection 2019.


F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.

Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, Pazmandi J, Lanzi G, Pala F, Tahiat A, Artac H, Heredia RJ, Dmytrus J, Reisli I, Uygun V, Uygun D, Bingol A, Basaran E, Djenouhat K, Benhalla N, Bendahmane C, Emiroglu M, Kirchhausen T, Pasham M, Jones J, Wallace JG, Zheng L, Boisson B, Porta F, Rosenzweig SD, Su H, Giliani S, Lenardo M, Geha RS, Boztug K, Chou J, Notarangelo LD.

J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26. No abstract available.


ENLIVE: An Efficient Nonlinear Method for Calibrationless and Robust Parallel Imaging.

Holme HCM, Rosenzweig S, Ong F, Wilke RN, Lustig M, Uecker M.

Sci Rep. 2019 Feb 28;9(1):3034. doi: 10.1038/s41598-019-39888-7.


Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.

Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M.

Front Immunol. 2019 Feb 4;10:23. doi: 10.3389/fimmu.2019.00023. eCollection 2019.


An ultra-stable redox-controlled self-assembling polypeptide nanotube for targeted imaging and therapy in cancer.

Asampille G, Verma BK, Swain M, Shettar A, Rosenzweig SA, Kondaiah P, Atreya HS.

J Nanobiotechnology. 2018 Dec 8;16(1):101. doi: 10.1186/s12951-018-0427-1.


Early stage lung cancer survival after wedge resection and stereotactic body radiation.

Taioli E, Lieberman-Cribbin W, Rosenzweig S, van Gerwen MAG, Liu B, Flores RM.

J Thorac Dis. 2018 Oct;10(10):5702-5713. doi: 10.21037/jtd.2018.09.140.


Simple auto-calibrated gradient delay estimation from few spokes using Radial Intersections (RING).

Rosenzweig S, Holme HCM, Uecker M.

Magn Reson Med. 2019 Mar;81(3):1898-1906. doi: 10.1002/mrm.27506. Epub 2018 Nov 4.


Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN.

Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.


Frequency-modulated SSFP with radial sampling and subspace reconstruction: A time-efficient alternative to phase-cycled bSSFP.

Roeloffs V, Rosenzweig S, Holme HCM, Uecker M, Frahm J.

Magn Reson Med. 2019 Mar;81(3):1566-1579. doi: 10.1002/mrm.27505. Epub 2018 Oct 25.


Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects.

Jhamnani RD, Nunes-Santos CJ, Bergerson J, Rosenzweig SD.

Front Immunol. 2018 Sep 26;9:2172. doi: 10.3389/fimmu.2018.02172. eCollection 2018. Review.


Vimentin and Non-Muscle Myosin IIA are Members of the Neural Precursor Cell Expressed Developmentally Down-Regulated 9 (NEDD9) Interactome in Head and Neck Squamous Cell Carcinoma Cells.

Semelakova M, Grauzam S, Betadthunga P, Tiedeken J, Coaxum S, Neskey DM, Rosenzweig SA.

Transl Oncol. 2019 Jan;12(1):49-61. doi: 10.1016/j.tranon.2018.09.006. Epub 2018 Sep 26.


Old vaccines, new diseases: when BCG meets SPPL2a.

Rosenzweig SD.

Nat Immunol. 2018 Sep;19(9):906-907. doi: 10.1038/s41590-018-0193-0. No abstract available.


Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension.

Etzion O, Takyar V, Novack V, Gharib AM, Canales R, Adebogun A, Matsumoto E, Eccleston JL, Kleiner DE, Rosenzweig SD, Gunay-Aygun M, Uzel G, Fuss I, Childs R, Holland SM, Levy EB, Liang TJ, Heller T, Koh C.

Hepatol Commun. 2018 Jul 16;2(8):919-928. doi: 10.1002/hep4.1198. eCollection 2018 Aug.


Climate Change Impacts on Yields and Soil Carbon in Row Crop Dryland Agriculture.

Robertson AD, Zhang Y, Sherrod LA, Rosenzweig ST, Ma L, Ahuja L, Schipanski ME.

J Environ Qual. 2018 Jul;47(4):684-694. doi: 10.2134/jeq2017.08.0309.


Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Nunes-Santos CJ, Rosenzweig SD.

Front Immunol. 2018 Jun 22;9:1423. doi: 10.3389/fimmu.2018.01423. eCollection 2018. Review.


Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD.

J Clin Invest. 2018 Jul 2;128(7):3071-3087. doi: 10.1172/JCI98164. Epub 2018 Jun 11.


NEDD9 stimulated MMP9 secretion is required for invadopodia formation in oral squamous cell carcinoma.

Grauzam S, Brock AM, Holmes CO, Tiedeken JA, Boniface SG, Pierson BN, Patterson DG, Coaxum SD, Neskey DM, Rosenzweig SA.

Oncotarget. 2018 May 22;9(39):25503-25516. doi: 10.18632/oncotarget.25347. eCollection 2018 May 22.


Tumor Elastography and Its Association with Collagen and the Tumor Microenvironment.

Riegler J, Labyed Y, Rosenzweig S, Javinal V, Castiglioni A, Dominguez CX, Long JE, Li Q, Sandoval W, Junttila MR, Turley SJ, Schartner J, Carano RAD.

Clin Cancer Res. 2018 Sep 15;24(18):4455-4467. doi: 10.1158/1078-0432.CCR-17-3262. Epub 2018 May 24.


Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients.

Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS.

J Clin Immunol. 2018 May;38(4):540-541. doi: 10.1007/s10875-018-0510-2.


Use of Genetic Testing for Primary Immunodeficiency Patients.

Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS.

J Clin Immunol. 2018 Apr;38(3):320-329. doi: 10.1007/s10875-018-0489-8. Epub 2018 Apr 19. Erratum in: J Clin Immunol. 2018 May 21;:.


Ikaros family zinc finger 1 regulates dendritic cell development and function in humans.

Cytlak U, Resteu A, Bogaert D, Kuehn HS, Altmann T, Gennery A, Jackson G, Kumanovics A, Voelkerding KV, Prader S, Dullaers M, Reichenbach J, Hill H, Haerynck F, Rosenzweig SD, Collin M, Bigley V.

Nat Commun. 2018 Mar 27;9(1):1239. doi: 10.1038/s41467-018-02977-8.


Acquired Resistance to Drugs Targeting Tyrosine Kinases.

Rosenzweig SA.

Adv Cancer Res. 2018;138:71-98. doi: 10.1016/bs.acr.2018.02.003. Epub 2018 Mar 2.


Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I.

Ann Rheum Dis. 2018 Apr;77(4):612-619. doi: 10.1136/annrheumdis-2017-212401. Epub 2018 Jan 22.


Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease.

Zimmerman O, Rösler B, Zerbe CS, Rosen LB, Hsu AP, Uzel G, Freeman AF, Sampaio EP, Rosenzweig SD, Kuehn HS, Kim T, Brooks KM, Kumar P, Wang X, Netea MG, van de Veerdonk FL, Holland SM.

Open Forum Infect Dis. 2017 Sep 22;4(4):ofx202. doi: 10.1093/ofid/ofx202. eCollection 2017 Fall.


Decreased lymphocytes and increased risk for infection are common in endogenous pediatric Cushing syndrome.

Tatsi C, Boden R, Sinaii N, Keil M, Lyssikatos C, Belyavskaya E, Rosenzweig SD, Stratakis CA, Lodish MB.

Pediatr Res. 2018 Feb;83(2):431-437. doi: 10.1038/pr.2017.278. Epub 2017 Dec 6.


Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

Vargas-Hernández A, Mace EM, Zimmerman O, Zerbe CS, Freeman AF, Rosenzweig S, Leiding JW, Torgerson T, Altman MC, Schussler E, Cunningham-Rundles C, Chinn IK, Carisey AF, Hanson IC, Rider NL, Holland SM, Orange JS, Forbes LR.

J Allergy Clin Immunol. 2018 Jun;141(6):2142-2155.e5. doi: 10.1016/j.jaci.2017.08.040. Epub 2017 Oct 27.


Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.

Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg ND, Meffre E, Gelfand EW, Snow AL, Milner JD.

Nat Genet. 2017 Oct 27;49(11):1661. doi: 10.1038/ng1117-1661b.


An update on gain-of-function mutations in primary immunodeficiency diseases.

Jhamnani RD, Rosenzweig SD.

Curr Opin Allergy Clin Immunol. 2017 Dec;17(6):391-397. doi: 10.1097/ACI.0000000000000401. Review.


Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.

Rao VK, Webster S, Dalm VASH, Šedivá A, van Hagen PM, Holland S, Rosenzweig SD, Christ AD, Sloth B, Cabanski M, Joshi AD, de Buck S, Doucet J, Guerini D, Kalis C, Pylvaenaeinen I, Soldermann N, Kashyap A, Uzel G, Lenardo MJ, Patel DD, Lucas CL, Burkhart C.

Blood. 2017 Nov 23;130(21):2307-2316. doi: 10.1182/blood-2017-08-801191. Epub 2017 Sep 29.


A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

Bogaert DJ, Kuehn HS, Bonroy C, Calvo KR, Dehoorne J, Vanlander AV, De Bruyne M, Cytlak U, Bigley V, De Baets F, De Baere E, Rosenzweig SD, Haerynck F, Dullaers M.

J Allergy Clin Immunol. 2018 Jan;141(1):432-435.e7. doi: 10.1016/j.jaci.2017.08.019. Epub 2017 Sep 18. No abstract available.


Impact of enzalutamide and its main metabolite N-desmethyl enzalutamide on pharmacokinetically important drug metabolizing enzymes and drug transporters.

Weiss J, Kocher J, Mueller C, Rosenzweig S, Theile D.

Biopharm Drug Dispos. 2017 Dec;38(9):517-525. doi: 10.1002/bdd.2103. Epub 2017 Oct 30.


Simultaneous multi-slice MRI using cartesian and radial FLASH and regularized nonlinear inversion: SMS-NLINV.

Rosenzweig S, Holme HCM, Wilke RN, Voit D, Frahm J, Uecker M.

Magn Reson Med. 2018 Apr;79(4):2057-2066. doi: 10.1002/mrm.26878. Epub 2017 Aug 24.


Intercellular Communication via the comX-Inducing Peptide (XIP) of Streptococcus mutans.

Kaspar J, Underhill SAM, Shields RC, Reyes A, Rosenzweig S, Hagen SJ, Burne RA.

J Bacteriol. 2017 Oct 3;199(21). pii: e00404-17. doi: 10.1128/JB.00404-17. Print 2017 Nov 1.


Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

Kuehn HS, Niemela JE, Sreedhara K, Stoddard JL, Grossman J, Wysocki CA, de la Morena MT, Garofalo M, Inlora J, Snyder MP, Lewis DB, Stratakis CA, Fleisher TA, Rosenzweig SD.

Blood. 2017 Sep 28;130(13):1553-1564. doi: 10.1182/blood-2017-05-782177. Epub 2017 Aug 4.


Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4+ Lymphopenia and Secondary Germline or Acquired Defects.

Panackal AA, Rosen LB, Uzel G, Davis MJ, Hu G, Adeyemo A, Tekola-Ayele F, Lisco A, Diachok C, Kim JD, Shaw D, Sereti I, Stoddard J, Niemela J, Rosenzweig SD, Bennett JE, Williamson PR.

Open Forum Infect Dis. 2017 Jun 7;4(2):ofx082. doi: 10.1093/ofid/ofx082. eCollection 2017 Spring.


Germline hypomorphic CARD11 mutations in severe atopic disease.

Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD.

Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Erratum in: Nat Genet. 2017 Oct 27;49(11):1661.


Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Bogaert DJ, Dullaers M, Kuehn HS, Leroy BP, Niemela JE, De Wilde H, De Schryver S, De Bruyne M, Coppieters F, Lambrecht BN, De Baets F, Rosenzweig SD, De Baere E, Haerynck F.

Sci Rep. 2017 Jun 16;7(1):3702. doi: 10.1038/s41598-017-02434-4.


X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability.

Marciano BE, Zerbe CS, Falcone EL, Ding L, DeRavin SS, Daub J, Kreuzburg S, Yockey L, Hunsberger S, Foruraghi L, Barnhart LA, Matharu K, Anderson V, Darnell DN, Frein C, Fink DL, Lau KP, Long Priel DA, Gallin JI, Malech HL, Uzel G, Freeman AF, Kuhns DB, Rosenzweig SD, Holland SM.

J Allergy Clin Immunol. 2018 Jan;141(1):365-371. doi: 10.1016/j.jaci.2017.04.035. Epub 2017 May 18.


First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.

Delmonte OM, Biggs CM, Hayward A, Comeau AM, Kuehn HS, Rosenzweig SD, Notarangelo LD.

J Clin Immunol. 2017 May;37(4):336-338. doi: 10.1007/s10875-017-0391-9. Epub 2017 Apr 4. No abstract available.


Granulocyte transfusions in patients with chronic granulomatous disease and refractory infections: The NIH experience.

Marciano BE, Allen ES, Conry-Cantilena C, Kristosturyan E, Klein HG, Fleisher TA, Holland SM, Malech HL, Rosenzweig SD.

J Allergy Clin Immunol. 2017 Aug;140(2):622-625. doi: 10.1016/j.jaci.2017.02.026. Epub 2017 Mar 22. No abstract available.


Esophageal Leiomyoma Presenting as Calcified Esophageal Mass.

Jehangir A, Le B, Shogbesan O, Rosenzweig SE.

ACG Case Rep J. 2017 Mar 15;4:e41. doi: 10.14309/crj.2017.41. eCollection 2017. No abstract available.


Artist's Statement: Medicine, Humanities, and Abstract Art.

Lane JE, Mitchell M, Rosenzweig S.

Acad Med. 2017 Mar;92(3):351. doi: 10.1097/ACM.0000000000001558. No abstract available.


The tumor suppressor capability of p53 is dependent on non-muscle myosin IIA function in head and neck cancer.

Coaxum SD, Tiedeken J, Garrett-Mayer E, Myers J, Rosenzweig SA, Neskey DM.

Oncotarget. 2017 Apr 4;8(14):22991-23007. doi: 10.18632/oncotarget.14967.


EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD.

J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1.

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