Below are the most recent publications written about "Gene Dosage" by people in Profiles.
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Verma A, Aylward B, Ma F, Sherman CA, Chopp L, Shinton S, Roy R, Fahl S, Contreras A, Koenitzer B, Awasthi P, Mazan-Mamczarz K, De S, Ollikainen N, Qiu X, Bosselut R, Sen R, Wiest DL, Sen JM. TCF1 dosage determines cell fate during T cell development. Sci Adv. 2024 Nov 29; 10(48):eado5982.
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Seth A, Rivera A, Chahdi A, Choi IS, Medina-Martinez O, Lewis S, O'Neill M, Ridgeway A, Moore J, Jorgez C, Lamb DJ. Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function. FASEB J. 2022 11; 36(11):e22567.
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Huang RSP, Murugesan K, Montesion M, Pavlick DC, Mata DA, Hiemenz MC, Decker B, Frampton G, Albacker LA, Ross JS. Pan-cancer landscape of CD274 (PD-L1) copy number changes in 244 584 patient samples and the correlation with PD-L1 protein expression. J Immunother Cancer. 2021 05; 9(5).
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O'Leary B, Cutts RJ, Huang X, Hrebien S, Liu Y, Andr? F, Loibl S, Loi S, Garcia-Murillas I, Cristofanilli M, Bartlett CH, Turner NC. Circulating Tumor DNA Markers for Early Progression on Fulvestrant With or Without Palbociclib in ER+ Advanced Breast Cancer. J Natl Cancer Inst. 2021 03 01; 113(3):309-317.
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Ross JL, Bloy L, Roberts TPL, Miller J, Xing C, Silverman LA, Zinn AR. Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression. Am J Med Genet B Neuropsychiatr Genet. 2019 10; 180(7):471-482.
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Joseph NM, Tsokos CG, Umetsu SE, Shain AH, Kelley RK, Onodera C, Bowman S, Talevich E, Ferrell LD, Kakar S, Krings G. Genomic profiling of combined hepatocellular-cholangiocarcinoma reveals similar genetics to hepatocellular carcinoma. J Pathol. 2019 06; 248(2):164-178.
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Carson VJ, Puffenberger EG, Bowser LE, Brigatti KW, Young M, Korulczyk D, Rodrigues AS, Loeven KK, Strauss KA. Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. PLoS One. 2018; 13(9):e0202104.
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Raznahan A, Parikshak NN, Chandran V, Blumenthal JD, Clasen LS, Alexander-Bloch AF, Zinn AR, Wangsa D, Wise J, Murphy DGM, Bolton PF, Ried T, Ross J, Giedd JN, Geschwind DH. Sex-chromosome dosage effects on gene expression in humans. Proc Natl Acad Sci U S A. 2018 07 10; 115(28):7398-7403.
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Straub J, Konrad EDH, Gr?ner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Fliedner A, Gregor A, Sticht H, Zweier C. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. Am J Hum Genet. 2018 01 04; 102(1):44-57.
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Prakash SK, Bondy CA, Maslen CL, Silberbach M, Lin AE, Perrone L, Limongelli G, Michelena HI, Bossone E, Citro R, Lemaire SA, Body SC, Milewicz DM. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry. Am J Med Genet A. 2016 12; 170(12):3157-3164.