Below are the most recent publications written about "Loss of Function Mutation" by people in Profiles.
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Chacon-Millan P, Delicato A, Mahmood A, Tirozzi A, Monfregola J, Duroure K, Serafini M, Kroll F, El-Hage O, Salah S, Atawneh OM, Atik T, Durmusalioglu EA, Isik E, Almontashiri NAM, Tabarki B, Kanaan M, Rabie G, Torella A, Spampanato C, Battaglia DI, Begemann A, Steindl K, Rauch A, Zweier M, Hajianpour M, Brigatti KW, Alhashem A, Maroofian R, Feigerlova E, Lambert L, Feillet F, Abbott MA, D'Alessio AM, Gonzaga-Jauregui C, Tawk M, De Matteis MA, Del Bene F, Zollino M, Nigro V, Venditti R, Franco B, Morleo M. Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking. Am J Hum Genet. 2026 Mar 05; 113(3):562-581.
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Hengel H, Hannan SB, Reich S, Beijer D, Roller J, Gilsbach BK, Gloeckner CJ, Greene D, Timmann D, Depienne C, Mumford A, O'Driscoll M, Nemeth AH, Lundberg J, Rodan LH, Bruel AL, Delanne J, Deconinck T, Baets J, Gan-Or Z, Rouleau G, Suchowersky O, Estiar MA, Reich S, Toro C, Z?chner S, Hazan J, P?tursson H, Harmuth F, Bauer C, Bauer P, Turro E, Lambright D, Sch?ls L, Synofzik M. Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism. Brain. 2025 Aug 01; 148(8):2812-2826.
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Lu PN, Melton C, Dupont B, Jones JR, Abidi F, Rose A, Patterson WG, Lyons MJ, Flanagan-Steet H. Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability. Clin Genet. 2025 Sep; 108(3):231-239.
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Bassani S, Chrast J, Ambrosini G, Voisin N, Sch?tz F, Brusco A, Sirchia F, Turban L, Schubert S, Abou Jamra R, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen G?M, Smeland MF, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, McCormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanp?? MK, Pohjola P, Arikka H, Kievit AJA, Calandrini C, Iseli C, Guex N, Reymond A. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Med. 2024 05 30; 16(1):72.
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Lee YY, Cal-Kayitmazbatir S, Francey LJ, Bahiru MS, Hayer KE, Wu G, Zeller MJ, Roberts R, Speers J, Koshalek J, Berres ME, Bittman EL, Hogenesch JB. duper is a null mutation of Cryptochrome 1 in Syrian hamsters. Proc Natl Acad Sci U S A. 2022 05 03; 119(18):e2123560119.
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Degtjarik O, Golovenko D, Diskin-Posner Y, Abrahms?n L, Rozenberg H, Shakked Z. Structural basis of reactivation of oncogenic p53 mutants by a small molecule: methylene quinuclidinone (MQ). Nat Commun. 2021 12 03; 12(1):7057.
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Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Sch?neborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, B?nnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun. 2021 05 07; 12(1):2558.
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Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE. Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease. JAMA Cardiol. 2021 04 01; 6(4):457-462.
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Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 06; 185(6):1649-1665.
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Calvo JA, Fritchman B, Hernandez D, Persky NS, Johannessen CM, Piccioni F, Kelch BA, Cantor SB. Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1. Mol Cancer Res. 2021 06; 19(6):1015-1025.