Below are the most recent publications written about "Dwarfism" by people in Profiles.
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Sterrett MC, Enyenihi L, Leung SW, Hess L, Strassler SE, Farchi D, Lee RS, Withers ES, Kremsky I, Baker RE, Basrai MA, van Hoof A, Fasken MB, Corbett AH. A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex. RNA. 2021 09; 27(9):1046-1067.
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Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Am J Hum Genet. 2017 Dec 07; 101(6):985-994.
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Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. Am J Med Genet A. 2016 12; 170(12):3313-3318.
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Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clin Genet. 2016 12; 90(6):509-517.
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Chen CT, Hehnly H, Yu Q, Farkas D, Zheng G, Redick SD, Hung HF, Samtani R, Jurczyk A, Akbarian S, Wise C, Jackson A, Bober M, Guo Y, Lo C, Doxsey S. A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation. Curr Biol. 2014 Oct 06; 24(19):2327-2334.
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Zou W, Greenblatt MB, Shim JH, Kant S, Zhai B, Lotinun S, Brady N, Hu DZ, Gygi SP, Baron R, Davis RJ, Jones D, Glimcher LH. MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice. J Clin Invest. 2011 Nov; 121(11):4383-92.
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Nwosu BU, Soyka LA, Angelescu A, Lee MM. Evidence of insulin-like growth factor binding protein-3 proteolysis during growth hormone stimulation testing. J Pediatr Endocrinol Metab. 2011; 24(3-4):163-7.
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Delaval B, Doxsey SJ. Pericentrin in cellular function and disease. J Cell Biol. 2010 Jan 25; 188(2):181-90.
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Delaval B, Doxsey S. Genetics. Dwarfism, where pericentrin gains stature. Science. 2008 Feb 08; 319(5864):732-3.
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Sanghavi D. Wanting babies like themselves, some parents choose genetic defects. N Y Times Web. 2006 Dec 05; F5, F8.