Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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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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Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Gr?nborg S, Mercier S, K?ry S, B?zieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, D?sir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, L?pez-Ot?n C, Santiago-Fern?ndez O, Fern?ndez-Ja?n A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, P?rez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, G?cz J, Jolly LA. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ? Signaling. Biol Psychiatry. 2020 01 15; 87(2):100-112.
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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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Luo M, Fan J, Wenger TL, Harr MH, Racobaldo M, Mulchandani S, Dubbs H, Zackai EH, Spinner NB, Conlin LK. CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues. Am J Med Genet A. 2017 Aug; 173(8):2101-2107.
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Peri S, Caretti E, Tricarico R, Devarajan K, Cheung M, Sementino E, Menges CW, Nicolas E, Vanderveer LA, Howard S, Conrad P, Crowell JA, Campbell KS, Ross EA, Godwin AK, Yeung AT, Clapper ML, Uzzo RG, Henske EP, Ricketts CJ, Vocke CD, Linehan WM, Testa JR, Bellacosa A, Kopelovich L, Knudson AG. Haploinsufficiency in tumor predisposition syndromes: altered genomic transcription in morphologically normal cells heterozygous for VHL or TSC mutation. Oncotarget. 2017 Mar 14; 8(11):17628-17642.
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Mao GF, Goldfinger LE, Fan DC, Lambert MP, Jalagadugula G, Freishtat R, Rao AK. Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency. J Thromb Haemost. 2017 04; 15(4):792-801.
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Schoch H, Kreibich AS, Ferri SL, White RS, Bohorquez D, Banerjee A, Port RG, Dow HC, Cordero L, Pallathra AA, Kim H, Li H, Bilker WB, Hirano S, Schultz RT, Borgmann-Winter K, Hahn CG, Feldmeyer D, Carlson GC, Abel T, Brodkin ES. Sociability Deficits and Altered Amygdala Circuits in Mice Lacking Pcdh10, an Autism Associated Gene. Biol Psychiatry. 2017 02 01; 81(3):193-202.
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Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet. 2015 Dec; 52(12):804-14.