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• An A13 repeat within the 3′-untranslated region of Epidermal Growth Factor Receptor (EGFR) is frequently mutated in microsatellite instability colon cancers and is associated with increased EGFR expression (Cancer Research (2009) 69, (7811-7818))

  Yuan, Z., Shin, J., Wilson, A., Goel, S., Ling, Y. H., Ahmed, N., Dopeso, H., Jhawer, M., Nasser, S., Montagna, C., Fordyce, K., Augenlicht, L. H., Aaltonen, L. A., Arango, D., Weber, T. K. & Mariadason, J. M., Feb 1 2010, In: Cancer research. 70, 3, p. 1275 1 p.

  Research output: Contribution to journal › Comment/debate › peer-review

• An A13 repeat within the 3′-untranslated region of epidermal growth factor receptor (EGFR) is frequently mutated in microsatellite instability colon cancers and is associated with increased EGFR expression

  Ziqiang, Y., Joongho, S., Wilson, A., Goel, S., Ling, Y. H., Ahmed, N., Dopeso, H., Jhawer, M., Nasser, S., Montagna, C., Fordyce, K., Augenlicht, L. H., Aaltonen, L. A., Arango, D., Weber, T. K. & Mariadason, J. M., Oct 1 2009, In: Cancer research. 69, 19, p. 7811-7818 8 p.

  Research output: Contribution to journal › Article › peer-review
  31 Scopus citations

• An 8-year-old boy with fever, splenomegaly, and pancytopenia

  Offenbacher, R., Rybinski, B., Joseph, T., Rahmani, N., Boucher, T. & Weiser, D. A., Jul 2020, In: Pediatrics. 146, 1, e20192372.

  Research output: Contribution to journal › Article › peer-review
  2 Scopus citations

• An ¹⁹F magnetic resonance-based in vivo assay of solid tumor methotrexate resistance: Proof of principle

  Spees, W. M., Gade, T. P. F., Yang, G., Tong, W. P., Bornmann, W. G., Gorlick, R. & Koutcher, J. A., Feb 15 2005, In: Clinical Cancer Research. 11, 4, p. 1454-1461 8 p.

  Research output: Contribution to journal › Article › peer-review
  6 Scopus citations

• An 18-year-old with nephrotic syndrome and chest pain: Answers

  Becton, L. J., Goilav, B., Wang, Y., Cole, P. D. & Kaskel, F. J., Nov 22 2015, In: Pediatric Nephrology. 30, 2, p. 269-271 3 p.

  Research output: Contribution to journal › Article › peer-review

• An 18-year-old with nephrotic syndrome and chest pain: Questions

  Becton, L. J., Goilav, B., Wang, Y., Cole, P. D. & Kaskel, F., Nov 22 2013, In: Pediatric Nephrology. 30, 2, p. 267 1 p.

  Research output: Contribution to journal › Article › peer-review

• Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex on Guam: Further Pathologic Studies

  Hirano, A., Malamud, N., Elizan, T. S. & Kurland, L. T., Jul 1966, In: Archives of Neurology. 15, 1, p. 35-51 17 p.

  Research output: Contribution to journal › Article › peer-review
  187 Scopus citations

• Amyotrophic Lateral Sclerosis and Parkinsonism-dementia Complex on Guam: Immunohistochemical Studies

  Hirano, A., 1992, In: The Keio Journal of Medicine. 41, 1, p. 6-9 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  17 Scopus citations

• Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex of Guam: Neurological Reevaluation

  Elizan, T. S., Hirano, A., Abrams, B. M., Need, R. L., Van Nuis, C. & Kurland, L. T., Apr 1966, In: Archives of Neurology. 14, 4, p. 356-368 13 p.

  Research output: Contribution to journal › Article › peer-review
  93 Scopus citations

• Amyotrophic Lateral Sclerosis: A Comparison of Guam and Classical Cases

  Hirano, A., Arumugasamy, N. & Zimmerman, H. M., Apr 1967, In: Archives of Neurology. 16, 4, p. 357-363 7 p.

  Research output: Contribution to journal › Article › peer-review
  73 Scopus citations

• Amyotrophic Lateral Sclerosis: Clinicopathological Studies of a Family

  Metcalf, C. W. & Hirano, A., Jun 1971, In: Archives of Neurology. 24, 6, p. 518-523 6 p.

  Research output: Contribution to journal › Article › peer-review
  42 Scopus citations

• Amyloid β Protein Precursor Is Phosphorylated by JNK-1 Independent of, yet Facilitated by, JNK-Interacting Protein (JIP)-1

  Scheinfeld, M. H., Ghersi, E., Davies, P. & D'Adamio, L., Oct 24 2003, In: Journal of Biological Chemistry. 278, 43, p. 42058-42063 6 p.

  Research output: Contribution to journal › Article › peer-review
  41 Scopus citations

• Amyloid-β Protein Precursor (AβPP) intracellular domain-associated protein-1 proteins bind to AβPP and modulate its processing in an isoform-specific manner

  Ghersi, E., Noviello, C. & D'Adamio, L., Nov 19 2004, In: Journal of Biological Chemistry. 279, 47, p. 49105-49112 8 p.

  Research output: Contribution to journal › Article › peer-review
  39 Scopus citations

• Amyloid β protein precursor (AβPP), but not AβPP-like protein 2, is bridged to the kinesin light chain by the scaffold protein JNK-interacting protein 1

  Matsuda, S., Matsuda, Y. & D'Adamio, L., Oct 3 2003, In: Journal of Biological Chemistry. 278, 40, p. 38601-38606 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  88 Scopus citations

• Amyloid-β disrupts ongoing spontaneous activity in sensory cortex

  Beker, S., Goldin, M., Menkes-Caspi, N., Kellner, V., Chechik, G. & Stern, E. A., Mar 1 2016, In: Brain Structure and Function. 221, 2, p. 1173-1188 16 p.

  Research output: Contribution to journal › Article › peer-review
  9 Scopus citations

• Amyloid-β alters ongoing neuronal activity and excitability in the frontal cortex

  Kellner, V., Menkes-Caspi, N., Beker, S. & Stern, E. A., Sep 2014, In: Neurobiology of Aging. 35, 9, p. 1982-1991 10 p.

  Research output: Contribution to journal › Article › peer-review
  27 Scopus citations

• Amyloid precursor protein (APP) may act as a substrate and a recognition unit for CRL4 ^CRBN and stub1 E3 ligases facilitating ubiquitination of proteins involved in presynaptic functions and neurodegeneration

  Prete, D. D., Rice, R. C., Rajadhyaksha, A. M. & D'Adamio, L., Aug 12 2016, In: Journal of Biological Chemistry. 291, 33, p. 17209-17227 19 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  52 Scopus citations

• Amyloidosis in subcutaneous heroin abusers ("Skin poppers' amyloidosis")

  Neugarten, J., Gallo, G. R., Buxbaum, J., Katz, L. A., Rubenstein, J. & Baldwin, D. S., Oct 1986, In: The American Journal of Medicine. 81, 4, p. 635-640 6 p.

  Research output: Contribution to journal › Article › peer-review
  64 Scopus citations

• Amyloidosis associated with multiple myeloma

  Kraut, R. A., Buhler, J. E., LaRue, J. R. & Acevedo, A., Jan 1977, In: Oral Surgery, Oral Medicine, Oral Pathology. 43, 1, p. 63-68 6 p.

  Research output: Contribution to journal › Article › peer-review
  16 Scopus citations

• Amyloidosis-associated neurotrophic keratopathy precipitated by overcorrected blepharoptosis

  Nguyen, V. T., Hwang, T. N., Shamie, N., Chuck, R. S. & McCulley, T. J., Jun 1 2009, In: Cornea. 28, 5, p. 575-576 2 p.

  Research output: Contribution to journal › Article › peer-review
  6 Scopus citations

• Amyloidosis and inflammatory bowel disease: A 50-year experience with 25 patients

  Greenstein, A. J., Sachar, D. B., Nannan Panday, A. K., Dikman, S. H., Meyers, S., Heimann, T., Gumaste, V., Lawrence Werther, J. & Janowitz, H. D., Sep 1992, In: Medicine (United States). 71, 5, p. 261-270 10 p.

  Research output: Contribution to journal › Article › peer-review
  138 Scopus citations

• Amyloid ophthalmoplegia: Ophthalmoparesis secondary to primary systemic amyloidosis

  Katz, B., Leja, S., Melles, R. B. & Press, G. A., Mar 1989, In: Journal of Clinical Neuro-Ophthalmology. 9, 1, p. 39-42 4 p.

  Research output: Contribution to journal › Article › peer-review
  16 Scopus citations

• Amyloidogenesis is neither accelerated nor enhanced by injections of preformed fibrils in mice transgenic for wild-type human transthyretin: The question of infectivity

  Tagoe, C. E., French, D., Gallo, G. & Buxbaum, J. N., Mar 2004, In: Amyloid. 11, 1, p. 21-26 6 p.

  Research output: Contribution to journal › Article › peer-review
  12 Scopus citations

• Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees

  Klunk, W. E., Price, J. C., Mathis, C. A., Tsopelas, N. D., Lopresti, B. J., Ziolko, S. K., Bi, W., Hoge, J. A., Cohen, A. D., Ikonomovic, M. D., Saxton, J. A., Snitz, B. E., Pollen, D. A., Moonis, M., Lippa, C. F., Swearer, J. M., Johnson, K. A., Rentz, D. M., Fischman, A. J., Aizenstein, H. J., & 1 othersDeKosky, S. T., Jun 6 2007, In: Journal of Neuroscience. 27, 23, p. 6174-6184 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  327 Scopus citations

• Amyloid-based interventions in Alzheimer's disease

  Kennedy, G. J., Golde, T. E., Tariot, P. N. & Cummings, J. L., Jan 2007, In: CNS spectrums. 12, SUPPL. 1, p. 1-14 14 p.

  Research output: Contribution to journal › Review article › peer-review
  13 Scopus citations

• Amyloid angiopathy in diffuse lewy body disease

  Wu, E., Lipton, R. B. & Dickson, D. W., Nov 1992, In: Neurology. 42, 11, p. 2131-2135 5 p.

  Research output: Contribution to journal › Article › peer-review
  40 Scopus citations

• Amyloid and nonfibrillar deposits in mice transgenic for wild-type human transthyretin: A possible model for senile systemic amyloidosis

  Teng, M. H., Yin, J. Y., Vidal, R., Ghiso, J., Kumar, A., Rabenou, R., Shah, A., Jacobson, D. R., Tagoe, C., Gallo, G. & Buxbaum, J., 2001, In: Laboratory Investigation. 81, 3, p. 385-396 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  80 Scopus citations

• Amylin-insulin relationships in insulin resistance with and without diabetic hyperglycemia

  Pieber, T. R., Stein, D. T., Ogawa, A., Alam, T., Ohneda, M., McCorkle, K., Chen, L., McGarry, J. D. & Unger, R. H., 1993, In: American Journal of Physiology - Endocrinology and Metabolism. 265, 3 28-3, p. E446-E453

  Research output: Contribution to journal › Article › peer-review
  40 Scopus citations

• A myeloid tumor suppressor role for NOL3

  Stanley, R. F., Piszczatowski, R. T., Bartholdy, B., Mitchell, K., McKimpson, W. M., Narayanagari, S., Walter, D., Todorova, T. I., Hirsch, C., Makishima, H., Will, B., McMahon, C., Gritsman, K., Maciejewski, J. P., Kitsis, R. N. & Steidl, U., Mar 6 2017, In: The Journal of experimental medicine. 214, 3, p. 753-771 19 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  5 Scopus citations

• A Mycobacterium tuberculosis Rpf double-knockout strain exhibits profound defects in reactivation from chronic tuberculosis and innate immunity phenotypes

  Russell-Goldman, E., Xu, J., Wang, X., Chan, J. & Tufariello, J. A. M., Sep 2008, In: Infection and immunity. 76, 9, p. 4269-4281 13 p.

  Research output: Contribution to journal › Article › peer-review
  81 Scopus citations

• A Mycobacterium tuberculosis cytochrome bd oxidase mutant is hypersensitive to bedaquiline

  Berney, M., Hartman, T. E. & Jacobs, W. R., Jul 15 2014, In: mBio. 5, 4, e01275-14.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  64 Scopus citations

• A mutation within the transmembrane domain of melanosomal protein Silver (Pmel17) changes lumenal fragment interactions

  Kuliawat, R. & Santambrogio, L., Nov 2009, In: European Journal of Cell Biology. 88, 11, p. 653-667 15 p.

  Research output: Contribution to journal › Article › peer-review
  8 Scopus citations

• A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na⁺ self inhibition

  Rauh, R., Diakov, A., Tzschoppe, A., Korbmacher, J., Azad, A. K., Cuppens, H., Cassiman, J. J., Dötsch, J., Sticht, H. & Korbmacher, C., Apr 2010, In: Journal of Physiology. 588, 8, p. 1211-1225 15 p.

  Research output: Contribution to journal › Article › peer-review
  74 Scopus citations

• A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

  Ben-Yosef, T., Ness, S. L., Madeo, A. C., Bar-Lev, A., Wolfman, J. H., Ahmed, Z. M., Desnick, R. J., Willner, J. P., Avraham, K. B., Ostrer, H., Oddoux, C., Griffith, A. J. & Friedman, T. B., Apr 24 2003, In: New England Journal of Medicine. 348, 17, p. 1664-1670 7 p.

  Research output: Contribution to journal › Article › peer-review
  74 Scopus citations

• A Mutation in the Vasopressin V2-Receptor Gene in a Kindred with X-Linked Nephrogenic Diabetes Insipidus

  Merendino, J. J., Spiegel, A. M., Crawford, J. D., O'carroll, A. M., Brownstein, M. J. & Lolait, S. J., May 27 1993, In: New England Journal of Medicine. 328, 21, p. 1538-1541 4 p.

  Research output: Contribution to journal › Article › peer-review
  61 Scopus citations

• A mutation in the second largest subunit of TFIIIC increases a rate- limiting step in transcription by RNA polymerase III

  Rameau, G., Puglia, K., Crowe, A., Sethy, I. & Willis, I., 1994, In: Molecular and cellular biology. 14, 1, p. 822-830 9 p.

  Research output: Contribution to journal › Article › peer-review
  45 Scopus citations

• A mutation in the pore of the sodium channel alters gating

  Tomaselli, G. F., Chiamvimonvat, N., Nuss, H. B., Balser, J. R., Pérez-García, M. T., Xu, R. H., Orias, D. W., Backx, P. H. & Marban, E., 1995, In: Biophysical journal. 68, 5, p. 1814-1827 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  75 Scopus citations

• A mutation in the leptin receptor is associated with Entamoeba histolytica infection in children

  Duggal, P., Guo, X., Haque, R., Peterson, K. M., Ricklefs, S., Mondal, D., Alam, F., Noor, Z., Verkerke, H. P., Marie, C., Leduc, C. A., Chua, S. C., Myers, M. G., Leibel, R. L., Houpt, E., Gilchrist, C. A., Sher, A., Porcella, S. F. & Petri, W. A., Mar 1 2011, In: Journal of Clinical Investigation. 121, 3, p. 1191-1198 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  116 Scopus citations

• A mutation in the Ebola virus envelope glycoprotein restricts viral entry in a host species- and cell-type-specific manner

  Martinez, O., Ndungo, E., Tantral, L., Miller, E. H., Leung, L. W., Chandran, K. & Basler, C. F., Mar 2013, In: Journal of virology. 87, 6, p. 3324-3334 11 p.

  Research output: Contribution to journal › Article › peer-review
  32 Scopus citations

• A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains

  Peyron, C., Faraco, J., Rogers, W., Ripley, B., Overeem, S., Charnay, Y., Nevsimalova, S., Aldrich, M., Reynolds, D., Albin, R., Li, R., Hungs, M., Pedrazzoli, M., Padigaru, M., Kucherlapati, M., Jun, F., Maki, R., Lammers, G. J., Bouras, C., Kucherlapati, R., & 2 othersNishino, S. & Mignot, E., Sep 2000, In: Nature Medicine. 6, 9, p. 991-997 7 p.

  Research output: Contribution to journal › Article › peer-review
  1774 Scopus citations

• A mutation causing brugada syndrome identifies a mechanism for altered autonomic and oxidant regulation of cardiac sodium currents

  Aiba, T., Farinelli, F., Kostecki, G., Hesketh, G. G., Edwards, D., Biswas, S., Tung, L. & Tomaselli, G. F., Jun 2014, In: Circulation: Cardiovascular Genetics. 7, 3, p. 249-256 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  22 Scopus citations

• A Mutation Causing a Reduced Level of Expression of Six β4-Galactosyltransferase Genes Is the Basis of the Lec19 CHO Glycosylation Mutant

  Lee, J. H., Park, S. H., Sundaram, S., Raju, T. S., Shaper, N. L. & Stanley, P., Oct 28 2003, In: Biochemistry. 42, 42, p. 12349-12357 9 p.

  Research output: Contribution to journal › Article › peer-review
  9 Scopus citations

• A mutated murine reduced folate carrier (RFC1) with increased affinity for folic acid, decreased affinity for methotrexate, and an obligatory anion requirement for transport function

  Zhao, R., Assaraf, Y. G. & Goldman, I. D., Jul 24 1998, In: Journal of Biological Chemistry. 273, 30, p. 19065-19071 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  68 Scopus citations

• A mutant PTH/PTHrP type I receptor in enchondromatosis

  Hopyan, S., Gokgoz, N., Poon, R., Gensure, R. C., Yu, C., Cole, W. G., Bell, R. S., Jüppner, H., Andrulis, I. L., Wunder, J. S. & Alman, B. A., Mar 2002, In: Nature Genetics. 30, 3, p. 306-310 5 p.

  Research output: Contribution to journal › Article › peer-review
  212 Scopus citations

• A mutant AMP nucleosidase. Purification, properties, and in vivo turnover of the protein

  Leung, H. B. & Schramm, V. L., 1981, In: Journal of Biological Chemistry. 256, 24, p. 12823-12829 7 p.

  Research output: Contribution to journal › Article › peer-review
  3 Scopus citations

• Amusia and musicogenic epilepsy

  Sparr, S. A., Nov 2003, In: Current neurology and neuroscience reports. 3, 6, p. 502-507 6 p.

  Research output: Contribution to journal › Review article › peer-review
  3 Scopus citations

• A murine Niemann-Pick C1 I1061T knock-In model recapitulates the pathological features of the most prevalent human disease allele

  Praggastis, M., Tortelli, B., Zhang, J., Fujiwara, H., Sidhu, R., Chacko, A., Chen, Z., Chung, C., Lieberman, A. P., Sikora, J., Davidson, C., Walkley, S. U., Pipalia, N. H., Maxfield, F. R., Schaffer, J. E. & Ory, D. S., May 27 2015, In: Journal of Neuroscience. 35, 21, p. 8091-8106 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  72 Scopus citations

• A murine model of ischemic cardiomyopathy induced by repetitive ischemia and reperfusion

  Dewald, O., Frangogiannis, N. G., Zoerlein, M. P., Duerr, G. D., Taffet, G., Michael, L. H., Welz, A. & Entman, M. L., Oct 2004, In: Thoracic and Cardiovascular Surgeon. 52, 5, p. 305-311 7 p.

  Research output: Contribution to journal › Article › peer-review
  23 Scopus citations

• A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion

  Yin, S., Gambe, R. G., Sun, J., Martinez, A. Z., Cartun, Z. J., Regis, F. F. D., Wan, Y., Fan, J., Brooks, A. N., Herman, S. E. M., Hacken, E. T., Taylor-Weiner, A., Rassenti, L. Z., Ghia, E. M., Kipps, T. J., Obeng, E. A., Cibulskis, C. L., Neuberg, D., Campagna, D. R., Fleming, M. D., & 9 othersEbert, B. L., Wiestner, A., Leshchiner, I., DeCaprio, J. A., Getz, G., Reed, R., Carrasco, R. D., Wu, C. J. & Wang, L., Feb 11 2019, In: Cancer Cell. 35, 2, p. 283-296.e5

  Research output: Contribution to journal › Article › peer-review

  Open Access
  40 Scopus citations

• A multivariate model exploring the predictive value of demographic, adolescent, and family factors on glycemic control in adolescents with type 1 diabetes

  Agarwal, S., Jawad, A. F. & Miller, V. A., Nov 1 2016, In: Pediatric Diabetes. 17, 7, p. 500-508 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  14 Scopus citations