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mTORC1 Activator SLC38A9 Is Required to Efflux Essential Amino Acids from Lysosomes and Use Protein as a Nutrient.

Wyant GA, Abu-Remaileh M, Wolfson RL, et al. mTORC1 Activator SLC38A9 Is Required to Efflux Essential Amino Acids from Lysosomes and Use Protein as a Nutrient. Cell. 2017;171(3):642-654.e12. doi:10.1016/j.cell.2017.09.046

Identification of pathogenic variant enriched regions across genes and gene families.

Pérez-Palma E, May P, Iqbal S, et al. Identification of pathogenic variant enriched regions across genes and gene families. Genome Res. 2020;30(1):62-71. doi:10.1101/gr.252601.119

RBSURFpred: Modeling protein accessible surface area in real and binary space using regularized and optimized regression.

Tarafder S, Ahmed MT, Iqbal S, Hoque MT, Rahman S. RBSURFpred: Modeling protein accessible surface area in real and binary space using regularized and optimized regression. J Theor Biol. 2018;441:44-57. doi:10.1016/j.jtbi.2017.12.029

3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants.

Schilit SLP, Morton CC. 3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants. Hum Genet. 2018;137(1):55-62. doi:10.1007/s00439-017-1853-0

Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.

Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB. Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. Mol Genet Genomic Med. 2017;5(6):678-691. doi:10.1002/mgg3.325

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Marsh APL, Edwards TJ, Galea C, et al. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Hum Mutat. 2018;39(1):23-39. doi:10.1002/humu.23361

The Autophagy-Related Beclin-1 Protein Requires the Coiled-Coil and BARA Domains To Form a Homodimer with Submicromolar Affinity.

Ranaghan MJ, Durney MA, Mesleh MF, et al. The Autophagy-Related Beclin-1 Protein Requires the Coiled-Coil and BARA Domains To Form a Homodimer with Submicromolar Affinity. Biochemistry. 2017;56(51):6639-6651. doi:10.1021/acs.biochem.7b00936

Structure of HIV TAR in complex with a Lab-Evolved RRM provides insight into duplex RNA recognition and synthesis of a constrained peptide that impairs transcription.

Belashov IA, Crawford DW, Cavender CE, et al. Structure of HIV TAR in complex with a Lab-Evolved RRM provides insight into duplex RNA recognition and synthesis of a constrained peptide that impairs transcription. Nucleic Acids Res. 2018;46(13):6401-6415. doi:10.1093/nar/gky529

A highly conserved cysteine of neuronal calcium-sensing proteins controls cooperative binding of Ca2+ to recoverin.

Ranaghan MJ, Kumar RP, Chakrabarti KS, Buosi V, Kern D, Oprian DD. A highly conserved cysteine of neuronal calcium-sensing proteins controls cooperative binding of Ca2+ to recoverin. J Biol Chem. 2013;288(50):36160-7. doi:10.1074/jbc.M113.524355

Analysis Identified a Genetically Unique Subset within Rheumatoid Arthritis and Distinct Genetic Background of Rheumatoid Factor Levels from Anticyclic Citrullinated Peptide Antibodies.

Hiwa R, Ikari K, Ohmura K, et al. Analysis Identified a Genetically Unique Subset within Rheumatoid Arthritis and Distinct Genetic Background of Rheumatoid Factor Levels from Anticyclic Citrullinated Peptide Antibodies. J Rheumatol. 2018;45(4):470-480. doi:10.3899/jrheum.170363