Below are the most recent publications written about "Sequence Deletion" by people in Profiles.
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Seth A, Rivera A, Chahdi A, Choi IS, Medina-Martinez O, Lewis S, O'Neill M, Ridgeway A, Moore J, Jorgez C, Lamb DJ. Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function. FASEB J. 2022 11; 36(11):e22567.
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Hou PC, Tu WT, Chen PC, Guevara BEK, Yen YF, Huang HY, Lee JY, Tang MJ, Kuo PL, Mcgrath JA, Hsu CK. A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa. Eur J Dermatol. 2021 Apr 01; 31(2):267-269.
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Rout SS, Singh M, Shindler KS, Das Sarma J. One proline deletion in the fusion peptide of neurotropic mouse hepatitis virus (MHV) restricts retrograde axonal transport and neurodegeneration. J Biol Chem. 2020 05 15; 295(20):6926-6935.
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Vahidnezhad H, Youssefian L, Saeidian AH, Mahmoudi H, Touati A, Abiri M, Kajbafzadeh AM, Aristodemou S, Liu L, McGrath JA, Ertel A, Londin E, Kariminejad A, Zeinali S, Fortina P, Uitto J. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. Matrix Biol. 2018 03; 66:22-33.
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Fleury OM, McAleer MA, Feuillie C, Formosa-Dague C, Sansevere E, Bennett DE, Towell AM, McLean WHI, Kezic S, Robinson DA, Fallon PG, Foster TJ, Dufr?ne YF, Irvine AD, Geoghegan JA. Clumping Factor B Promotes Adherence of Staphylococcus aureus to Corneocytes in Atopic Dermatitis. Infect Immun. 2017 06; 85(6).
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Bingham C, Fernandez SV, Fittipaldi P, Dempsey PW, Ruth KJ, Cristofanilli M, Katherine Alpaugh R. Mutational studies on single circulating tumor cells isolated from the blood of inflammatory breast cancer patients. Breast Cancer Res Treat. 2017 Jun; 163(2):219-230.
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Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA. Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. Am J Hum Genet. 2017 Feb 02; 100(2):364-370.
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Takeichi T, Liu L, Abdul-Wahab A, McMillan JR, Stone KL, Akiyama M, Simpson MA, Parsons M, Mellerio JE, McGrath JA. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic?Ichthyosis. J Invest Dermatol. 2016 10; 136(10):2095-2098.
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Fernandez SV, Bingham C, Fittipaldi P, Austin L, Palazzo J, Palmer G, Alpaugh K, Cristofanilli M. TP53 mutations detected in circulating tumor cells present in the blood of metastatic triple negative breast cancer patients. Breast Cancer Res. 2014 Oct 09; 16(5):445.
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Lamb RC, Lang J, Terron-Kwiatowski A, Baty D, McLean WH, Zamiri M. Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in KRT10. Br J Dermatol. 2014 Oct; 171(4):913-5.