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Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.

The Journal of experimental medicine

Li J, Lei WT, Zhang P, Rapaport F, Seeleuthner Y, Lyu B, Asano T, Rosain J, Hammadi B, Zhang Y, Pelham SJ, Spaan AN, Migaud M, Hum D, Bigio B, Chrabieh M, Béziat V, Bustamante J, Zhang SY, Jouanguy E, Boisson-Dupuis S, El Baghdadi J, Aimanianda V, Thoma K, Fliegauf M, Grimbacher B, Korganow AS, Saunders C, Rao VK, Uzel G, Freeman AF, Holland SM, Su HC, Cunningham-Rundles C, Fieschi C, Abel L, Puel A, Cobat A, Casanova JL, Zhang Q, Boisson B.
PMID: 34473196
J Exp Med. 2021 Nov 01;218(11). doi: 10.1084/jem.20210566. Epub 2021 Sep 02.

Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic etiology of common variable immunodeficiency (CVID). However, the causal link between NFKB1 variants and CVID has not been demonstrated experimentally and genetically, and there has been...

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Li J, Lei WT, Zhang P, et al. Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency. J Exp Med. 2021;218(11)doi: 10.1084/jem.20210566.
Li, J., Lei, W. T., Zhang, P., Rapaport, F., Seeleuthner, Y., Lyu, B., Asano, T., Rosain, J., Hammadi, B., Zhang, Y., Pelham, S. J., Spaan, A. N., Migaud, M., Hum, D., Bigio, B., Chrabieh, M., Béziat, V., Bustamante, J., Zhang, S. Y., Jouanguy, E., Boisson-Dupuis, S., El Baghdadi, J., Aimanianda, V., Thoma, K., Fliegauf, M., Grimbacher, B., Korganow, A. S., Saunders, C., Rao, V. K., Uzel, G., Freeman, A. F., Holland, S. M., Su, H. C., Cunningham-Rundles, C., Fieschi, C., Abel, L., Puel, A., Cobat, A., Casanova, J. L., Zhang, Q., & Boisson, B. (2021). Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency. The Journal of experimental medicine, 218(11), . https://doi.org/10.1084/jem.20210566
Li, Juan, et al. "Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency." The Journal of experimental medicine vol. 218,11 (2021). doi: https://doi.org/10.1084/jem.20210566
Li J, Lei WT, Zhang P, Rapaport F, Seeleuthner Y, Lyu B, Asano T, Rosain J, Hammadi B, Zhang Y, Pelham SJ, Spaan AN, Migaud M, Hum D, Bigio B, Chrabieh M, Béziat V, Bustamante J, Zhang SY, Jouanguy E, Boisson-Dupuis S, El Baghdadi J, Aimanianda V, Thoma K, Fliegauf M, Grimbacher B, Korganow AS, Saunders C, Rao VK, Uzel G, Freeman AF, Holland SM, Su HC, Cunningham-Rundles C, Fieschi C, Abel L, Puel A, Cobat A, Casanova JL, Zhang Q, Boisson B. Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency. J Exp Med. 2021 Nov 01;218(11). doi: 10.1084/jem.20210566. Epub 2021 Sep 02. PMID: 34473196; PMCID: PMC8421261.
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Patient- and hospital-related risk factors for non-routine discharge after lumbar decompression and fusion for spondylolisthesis.

Clinical neurology and neurosurgery

Elsamadicy AA, Freedman IG, Koo AB, David W, Hengartner AC, Havlik J, Reeves BC, Hersh A, Pennington Z, Kolb L, Laurans M, Shin JH, Sciubba DM.
PMID: 34481141
Clin Neurol Neurosurg. 2021 Oct;209:106902. doi: 10.1016/j.clineuro.2021.106902. Epub 2021 Aug 21.

OBJECTIVE: In various spinal surgeries, non-routine discharges have been associated with inferior outcomes. However, there exists a paucity of data regarding the relationship between non-routine discharge and quality of care among patients with spondylolisthesis. The aim of this study...

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Elsamadicy AA, Freedman IG, Koo AB, et al. Patient- and hospital-related risk factors for non-routine discharge after lumbar decompression and fusion for spondylolisthesis. Clin Neurol Neurosurg. 2021;209:106902doi: 10.1016/j.clineuro.2021.106902.
Elsamadicy, A. A., Freedman, I. G., Koo, A. B., David, W., Hengartner, A. C., Havlik, J., Reeves, B. C., Hersh, A., Pennington, Z., Kolb, L., Laurans, M., Shin, J. H., & Sciubba, D. M. (2021). Patient- and hospital-related risk factors for non-routine discharge after lumbar decompression and fusion for spondylolisthesis. Clinical neurology and neurosurgery, 209106902. https://doi.org/10.1016/j.clineuro.2021.106902
Elsamadicy, Aladine A, et al. "Patient- and hospital-related risk factors for non-routine discharge after lumbar decompression and fusion for spondylolisthesis." Clinical neurology and neurosurgery vol. 209 (2021): 106902. doi: https://doi.org/10.1016/j.clineuro.2021.106902
Elsamadicy AA, Freedman IG, Koo AB, David W, Hengartner AC, Havlik J, Reeves BC, Hersh A, Pennington Z, Kolb L, Laurans M, Shin JH, Sciubba DM. Patient- and hospital-related risk factors for non-routine discharge after lumbar decompression and fusion for spondylolisthesis. Clin Neurol Neurosurg. 2021 Oct;209:106902. doi: 10.1016/j.clineuro.2021.106902. Epub 2021 Aug 21. PMID: 34481141.
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Water, sanitation, and hygiene for control of trachoma in Ethiopia (WUHA): a two-arm, parallel-group, cluster-randomised trial.

The Lancet. Global health

Aragie S, Wittberg DM, Tadesse W, Dagnew A, Hailu D, Chernet A, Melo JS, Aiemjoy K, Haile M, Zeru T, Tadesse Z, Gwyn S, Martin DL, Arnold BF, Freeman MC, Nash SD, Callahan EK, Porco TC, Lietman TM, Keenan JD.
PMID: 34919861
Lancet Glob Health. 2022 Jan;10(1):e87-e95. doi: 10.1016/S2214-109X(21)00409-5.

BACKGROUND: WHO promotes the SAFE strategy for the elimination of trachoma as a public health programme, which promotes surgery for trichiasis (ie, the S component), antibiotics to clear the ocular strains of chlamydia that cause trachoma (the A component),...

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Aragie S, Wittberg DM, Tadesse W, et al. Water, sanitation, and hygiene for control of trachoma in Ethiopia (WUHA): a two-arm, parallel-group, cluster-randomised trial. Lancet Glob Health. 2022;10(1):e87-e95doi: 10.1016/S2214-109X(21)00409-5.
Aragie, S., Wittberg, D. M., Tadesse, W., Dagnew, A., Hailu, D., Chernet, A., Melo, J. S., Aiemjoy, K., Haile, M., Zeru, T., Tadesse, Z., Gwyn, S., Martin, D. L., Arnold, B. F., Freeman, M. C., Nash, S. D., Callahan, E. K., Porco, T. C., Lietman, T. M., & Keenan, J. D. (2022). Water, sanitation, and hygiene for control of trachoma in Ethiopia (WUHA): a two-arm, parallel-group, cluster-randomised trial. The Lancet. Global health, 10(1), e87-e95. https://doi.org/10.1016/S2214-109X(21)00409-5
Aragie, Solomon, et al. "Water, sanitation, and hygiene for control of trachoma in Ethiopia (WUHA): a two-arm, parallel-group, cluster-randomised trial." The Lancet. Global health vol. 10,1 (2022): e87-e95. doi: https://doi.org/10.1016/S2214-109X(21)00409-5
Aragie S, Wittberg DM, Tadesse W, Dagnew A, Hailu D, Chernet A, Melo JS, Aiemjoy K, Haile M, Zeru T, Tadesse Z, Gwyn S, Martin DL, Arnold BF, Freeman MC, Nash SD, Callahan EK, Porco TC, Lietman TM, Keenan JD. Water, sanitation, and hygiene for control of trachoma in Ethiopia (WUHA): a two-arm, parallel-group, cluster-randomised trial. Lancet Glob Health. 2022 Jan;10(1):e87-e95. doi: 10.1016/S2214-109X(21)00409-5. PMID: 34919861.
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Showing 793 to 795 of 795 entries