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SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F. Ruf RG, et al. Among authors: kumar s. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. doi: 10.1073/pnas.0308475101. Epub 2004 May 12. Proc Natl Acad Sci U S A. 2004. PMID: 15141091 Free PMC article.
Poland syndrome.
Sharma CM, Kumar S, Meghwani MK, Agrawal RP. Sharma CM, et al. Among authors: kumar s. Indian J Hum Genet. 2014 Jan;20(1):82-4. doi: 10.4103/0971-6866.132764. Indian J Hum Genet. 2014. PMID: 24959021 Free PMC article.
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.
David C, Arango-Franco CA, Badonyi M, Fouchet J, Rice GI, Didry-Barca B, Maisonneuve L, Seabra L, Kechiche R, Masson C, Cobat A, Abel L, Talouarn E, Béziat V, Deswarte C, Livingstone K, Paul C, Malik G, Ross A, Adam J, Walsh J, Kumar S, Bonnet D, Bodemer C, Bader-Meunier B, Marsh JA, Casanova JL, Crow YJ, Manoury B, Frémond ML, Bohlen J, Lepelley A. David C, et al. Among authors: kumar s. J Exp Med. 2024 Aug 5;221(8):e20232066. doi: 10.1084/jem.20232066. Epub 2024 Jun 13. J Exp Med. 2024. PMID: 38869500
Efficacy and Safety of Amorolfine Lotion 0.25% w/v Compared to Amorolfine Cream 0.25% w/w in Patients With Superficial Fungal Infections of the Skin: A Multi-center, Randomized, Open-Label, Active-Controlled, Non-inferiority Phase III Clinical Trial.
Rao MKP, Siddananjappa L, Sidana N, Deshmukh A, Diwari B, Podder I, Kumar S, Mittal R, Daultani P, Jaiswal A, Chinda M. Rao MKP, et al. Among authors: kumar s. Cureus. 2024 May 12;16(5):e60162. doi: 10.7759/cureus.60162. eCollection 2024 May. Cureus. 2024. PMID: 38868264 Free PMC article.
ESR1 and p53 interactome alteration defines mechanisms of tamoxifen response in luminal breast cancer.
Oturkar CC, Rosario SR, Hutson AD, Groman A, Edge SB, Morrison CD, Swetzig WM, Wang J, Park JH, Kaipparettu BA, Singh PK, Kumar S, Cappuccino HH, Ranjan M, Adjei A, Ghasemi M, Goey AKL, Kulkarni S, Das GM. Oturkar CC, et al. Among authors: kumar s. iScience. 2024 May 15;27(6):109995. doi: 10.1016/j.isci.2024.109995. eCollection 2024 Jun 21. iScience. 2024. PMID: 38868185 Free PMC article.
Molecular and clinical epidemiology of carbapenem resistant Acinetobacter baumannii, Pseudomonas aeruginosa and Enterobacterales in Fiji: a multicentre prospective observational study.
Baleivanualala SC, Matanitobua S, Soqo V, Smita S, Limaono J, Sharma SC, Devi SV, Boseiwaqa LV, Vera N, Kumar S, Lalibuli A, Mailulu J, Wilson D, Samisoni Y, Crump JA, Ussher JE. Baleivanualala SC, et al. Among authors: kumar s. Lancet Reg Health West Pac. 2024 May 29;47:101095. doi: 10.1016/j.lanwpc.2024.101095. eCollection 2024 Jun. Lancet Reg Health West Pac. 2024. PMID: 38867891 Free PMC article.
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