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Page 1
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.
Kakar N, Mascarenhas S, Ali A, Azmatullah, Ijlal Haider SM, Badiger VA, Ghofrani MS, Kruse N, Hashmi SN, Pozojevic J, Balachandran S, Toft M, Malik S, Händler K, Fatima A, Iqbal Z, Shukla A, Spielmann M, Radhakrishnan P. Kakar N, et al. Among authors: radhakrishnan p. Hum Genet. 2024 Dec 21. doi: 10.1007/s00439-024-02718-6. Online ahead of print. Hum Genet. 2024. PMID: 39708122
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: radhakrishnan p. Am J Hum Genet. 2024 Dec 14:S0002-9297(24)00416-6. doi: 10.1016/j.ajhg.2024.11.007. Online ahead of print. Am J Hum Genet. 2024. PMID: 39701103 Free article.
Pretargeted alpha therapy in MUC16-positive high-grade serous ovarian cancer.
Mack KN, Bauer D, Carter LM, Carrasco SE, Atmane MI, Viray TD, Brooks CL, Hollingsworth MA, Radhakrishnan P, Lewis JS. Mack KN, et al. Among authors: radhakrishnan p. Nucl Med Biol. 2024 Nov 22;140-141:108976. doi: 10.1016/j.nucmedbio.2024.108976. Online ahead of print. Nucl Med Biol. 2024. PMID: 39615062
Monitoring and management of hemolytic disease of the fetus and newborn based on an international expert Delphi consensus.
Mustafa HJ, Sambatur EV, Shamshirsaz AA, Johnson S, Moise KJ Jr, Baschat AA, Joanne Verweij EJT, Javinani A, Kilby MD, Lopriore E, Rose R, Devlieger R, Snowise S, Sachs UJ, Khalil A; HDFN Delphi Working Group. Mustafa HJ, et al. Am J Obstet Gynecol. 2024 Nov 14:S0002-9378(24)01130-X. doi: 10.1016/j.ajog.2024.11.003. Online ahead of print. Am J Obstet Gynecol. 2024. PMID: 39547350
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.
Le C, Argilli E, George E, Kalayci T, Uyguner ZO, Karaman B, Demiroren T, Heron D, Sabatier I, Rodan LH, Girisha KM, Radhakrishnan P, Saunders C, Sullivan B, Fleming E, Alvi JR, Sultan T, Houlden H, Efthymiou S, Guillen Sacoto MJ, Goodman M, Sherr EH. Le C, et al. Among authors: radhakrishnan p. medRxiv [Preprint]. 2024 Dec 17:2024.10.11.24312856. doi: 10.1101/2024.10.11.24312856. medRxiv. 2024. PMID: 39502664 Free PMC article. Preprint.
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O' Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: radhakrishnan p. medRxiv [Preprint]. 2024 Aug 21:2024.08.19.24312079. doi: 10.1101/2024.08.19.24312079. medRxiv. 2024. Update in: Am J Hum Genet. 2024 Dec 14:S0002-9297(24)00416-6. doi: 10.1016/j.ajhg.2024.11.007 PMID: 39371131 Free PMC article. Updated. Preprint.
Low-energy electric shock ameliorates cell proliferation, morphallaxis, and regeneration via driving key regenerative proteins in earthworm and 3T3 cells.
Rajagopalan K, Selvan Christyraj JD, Balamurugan N, Selvan Christyraj JRS, Dan VM, Radhakrishnan P, Vaidhyalingham AB, Nagaiah HP. Rajagopalan K, et al. Among authors: radhakrishnan p. Bioelectrochemistry. 2025 Feb;161:108824. doi: 10.1016/j.bioelechem.2024.108824. Epub 2024 Sep 21. Bioelectrochemistry. 2025. PMID: 39326348
217 results