Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Genevi?ve D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808.
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Coenen-van der Spek J, Relator R, Kerkhof J, McConkey H, Levy MA, Tedder ML, Louie RJ, Fletcher RS, Moore HW, Childers A, Farrelly ER, Champaigne NL, Lyons MJ, Everman DB, Rogers RC, Skinner SA, Renck A, Matalon DR, Dills SK, Monteleone B, Demirdas S, Dingemans AJM, Donker Kaat L, Kolk SM, Pfundt R, Rump P, Sadikovic B, Kleefstra T, Butler KM. DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency. Genet Med. 2023 01; 25(1):63-75.
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Lu Y, Almeida S, Gao FB. TBK1 haploinsufficiency in ALS and FTD compromises membrane trafficking. Acta Neuropathol. 2021 07; 142(1):217-221.
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Yu SH, Wang T, Wiggins K, Louie RJ, Merino EF, Skinner C, Cassera MB, Meagher K, Goldberg P, Rismanchi N, Chen D, Lyons MJ, Flanagan-Steet H, Steet R. Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency. Genet Med. 2021 07; 23(7):1305-1314.
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Kim JM, Yang YS, Park KH, Ge X, Xu R, Li N, Song M, Chun H, Bok S, Charles JF, Filhol-Cochet O, Boldyreff B, Dinter T, Yu PB, Kon N, Gu W, Takarada T, Greenblatt MB, Shim JH. A RUNX2 stabilization pathway mediates physiologic and pathologic bone formation. Nat Commun. 2020 05 08; 11(1):2289.
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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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Tayebi N, Parisiadou L, Berhe B, Gonzalez AN, Serra-Vinardell J, Tamargo RJ, Maniwang E, Sorrentino Z, Fujiwara H, Grey RJ, Hassan S, Blech-Hermoni YN, Chen C, McGlinchey R, Makariou-Pikis C, Brooks M, Ginns EI, Ory DS, Giasson BI, Sidransky E. Glucocerebrosidase haploinsufficiency in A53T a-synuclein mice impacts disease onset and course. Mol Genet Metab. 2017 12; 122(4):198-208.
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Cantu S, Krier J, Hashemi N. Hepatocyte Nuclear Factor 1a Mutation-associated MODY-3 and Familial Liver Adenomatosis. J Clin Gastroenterol. 2016 Feb; 50(2):181-2.
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Clifton KB, Paglia DN, Soung do Y, Wolf JM, Moss IL, Drissi H. Effects of Wnt5a Haploinsufficiency on Bone Repair. J Orthop Trauma. 2014 Aug; 28(8):e191-7.
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McGee-Lawrence ME, Carpio LR, Bradley EW, Dudakovic A, Lian JB, van Wijnen AJ, Kakar S, Hsu W, Westendorf JJ. Runx2 is required for early stages of endochondral bone formation but delays final stages of bone repair in Axin2-deficient mice. Bone. 2014 Sep; 66:277-86.