Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Nanda A, Chang YH, Cheng HC, Lai IT, Al-Lafi A, McGrath JA, Hsu CK. Autosomal recessive plantar keratoderma with ragged periungual hyperkeratosis caused by a homozygous missense variant in?KRT16. Br J Dermatol. 2024 Mar 15; 190(4):588-590.
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Lee KE, Pulido JS, da Palma MM, Procopio R, Hufnagel RB, Reynolds M. A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases. Genes (Basel). 2023 08 08; 14(8).
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Averdunk L, Sticht H, Surowy H, L?decke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D. The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. J Mol Med (Berl). 2021 12; 99(12):1755-1768.
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Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Expanding the KIF4A-associated phenotype. Am J Med Genet A. 2021 12; 185(12):3728-3739.
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Grand K, Skraban CM, Cohen JL, Dowsett L, Mazzola S, Tarpinian J, Bedoukian E, Nesbitt A, Denenberg B, Lulis L, Santani A, Zackai EH, Deardorff MA. Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome. Am J Med Genet A. 2021 09; 185(9):2766-2775.
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Heron SE, Regan BM, Harris RV, Gardner AE, Coleman MJ, Bennett MF, Grinton BE, Helbig KL, Sperling MR, Haut S, Geller EB, Widdess-Walsh P, Pelekanos JT, Bahlo M, Petrovski S, Heinzen EL, Hildebrand MS, Corbett MA, Scheffer IE, Gécz J, Berkovic SF. Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. Neurology. 2021 05 04; 96(18):e2251-e2260.
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McDuff SGR, Bellon JR, Shannon KM, Gadd MA, Dunn S, Rosenstein BS, Ho AY. ATM Variants in Breast Cancer: Implications for Breast Radiation Therapy Treatment Recommendations. Int J Radiat Oncol Biol Phys. 2021 08 01; 110(5):1373-1382.
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Cassandrini D, Merlini L, Pilla F, Cenni V, Santi S, Faldini C, Santorelli FM, Sabatelli P. Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein. Neuromuscul Disord. 2021 01; 31(1):44-51.
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Tripolszki K, Sasaki E, Hotakainen R, Kassim AH, Pereira C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM. An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. Clin Genet. 2021 02; 99(2):303-308.
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Kalay Yildizhan I, G?kpinar Ili E, Onoufriadis A, Kocyigit P, Kesidou E, Simpson MA, McGrath JA, Kutlay NY, Kundakci N. New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis. Cytogenet Genome Res. 2020; 160(9):523-530.