Below are the most recent publications written about "Loss of Function Mutation" by people in Profiles.
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Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150.
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Abboodi F, Buckhaults P, Altomare D, Liu C, Hosseinipour M, Banister CE, Creek KE, Pirisi L. HPV-inactive cell populations arise from HPV16-transformed human keratinocytes after p53 knockout. Virology. 2021 02; 554:9-16.
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Ennishi D, Healy S, Bashashati A, Saberi S, Hother C, Mottok A, Chan FC, Chong L, Abraham L, Kridel R, Boyle M, Meissner B, Aoki T, Takata K, Woolcock BW, Viganò E, Gold M, Molday LL, Molday RS, Telenius A, Li MY, Wretham N, Dos Santos N, Wong M, Viller NN, Uger RA, Duns G, Baticados A, Madero A, Bristow BN, Farinha P, Slack GW, Ben-Neriah S, Lai D, Zhang AW, Salehi S, Shulha HP, Chiu DS, Mostafavi S, Gerrie AS, Huang DW, Rushton C, Villa D, Sehn LH, Savage KJ, Mungall AJ, Weng AP, Bally MB, Morin RD, Cohen Freue GV, Staudt LM, Connors JM, Marra MA, Shah SP, Gascoyne RD, Scott DW, Steidl C. TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma. Nat Med. 2020 04; 26(4):577-588.
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Gan P, Patterson M, Velasquez A, Wang K, Tian D, Windle JJ, Tao G, Judge DP, Makita T, Park TJ, Sucov HM. Tnni3k alleles influence ventricular mononuclear diploid cardiomyocyte frequency. PLoS Genet. 2019 10; 15(10):e1008354.
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Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD. Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. J Clin Invest. 2018 07 02; 128(7):3071-3087.
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Spellicy CJ, Norris J, Bend R, Bupp C, Mester P, Reynolds T, Dean J, Peng Y, Alexov E, Schwartz CE, Stevenson RS, J Friez M. Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects. Eur J Hum Genet. 2018 03; 26(3):420-427.
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LeBel DP, Wolff DJ, Batalis NI, Ellingham T, Matics N, Patwardhan SC, Znoyko IY, Schandl CA. First Report of Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination. Pediatr Dev Pathol. 2018 Nov-Dec; 21(6):561-567.