Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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Barnada SM, Giner de Gracia A, Morenilla-Palao C, L?pez-Cascales MT, Scopa C, Waltrich FJ, Mikkers HMM, Cicardi ME, Karlin J, Trotti D, Peterson KA, Brugmann SA, Santen GWE, McMahon SB, Herrera E, Trizzino M. ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification. Am J Hum Genet. 2024 10 03; 111(10):2232-2252.
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Tanner A, Sagoo MS, Mahroo OA, Pulido JS. Genetic analysis of ocular tumour-associated genes using large genomic datasets: insights into selection constraints and variant representation in the population. BMJ Open Ophthalmol. 2024 02 21; 9(1).
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Ghahremani S, Kanwal A, Pettinato A, Ladha F, Legere N, Thakar K, Zhu Y, Tjong H, Wilderman A, Stump WT, Greenberg L, Greenberg MJ, Cotney J, Wei CL, Hinson JT. CRISPR Activation Reverses Haploinsufficiency and Functional Deficits Caused by TTN Truncation Variants. Circulation. 2024 Apr 16; 149(16):1285-1297.
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Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR. RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation. Am J Hum Genet. 2023 12 07; 110(12):2103-2111.
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Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Qu?lin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H, Chung WK, Zweier C. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 07; 25(7):100839.
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Madgwick S, Luli S, Sellier H, Butterworth JA, Leslie J, Moore AJ, Corbin EK, Yemm AI, Chiremba RT, Tiniakos D, Oakley F, Perkins ND, Hunter JE. Claspin haploinsufficiency leads to defects in fertility, hyperplasia and an increased oncogenic potential. Biochem J. 2022 10 14; 479(19):2115-2130.
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Marom R, Burrage LC, Venditti R, Cl?ment A, Blanco-S?nchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Westerfield M, De Matteis MA, Lee B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.
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Fitzgerald KK, Powell-Hamilton N, Shillingford AJ, Robinson B, Gripp KW. Inherited intragenic PBX1 deletion: Expanding the phenotype. Am J Med Genet A. 2021 01; 185(1):234-237.
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Tessier S, Tran VA, Ottone OK, Novais EJ, Doolittle A, DiMuzio MJ, Shapiro IM, Risbud MV. TonEBP-deficiency accelerates intervertebral disc degeneration underscored by matrix remodeling, cytoskeletal rearrangements, and changes in proinflammatory gene expression. Matrix Biol. 2020 05; 87:94-111.
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Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogn? B, Kuechler A, Piton A, Klee EW, Lefebvre V, Clark KJ, Depienne C. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.