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XB--6460504
Papers associated with npat (and Disease Ontology)
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Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease., Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M., Proc Natl Acad Sci U S A. April 18, 2023; 120 (16): e2214997120.  |
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Generation of a new six1-null line in Xenopus tropicalis for study of development and congenital disease., Coppenrath K, Tavares ALP, Shaidani NI, Wlizla M, Moody SA, Horb M., Genesis. December 1, 2021; 59 (12): e23453.  |
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Rare heterozygous GDF6 variants in patients with renal anomalies., Martens H, Hennies I, Getwan M, Christians A, Weiss AC, Brand F, Gjerstad AC, Christians A, Gucev Z, Geffers R, Seeman T, Kispert A, Tasic V, Bjerre A, Lienkamp SS, Haffner D, Weber RG., Eur J Hum Genet. December 1, 2020; 28 (12): 1681-1693.  |
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The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology., Barnum CE, Al Saai S, Patel SD, Cheng C, Anand D, Xu X, Dash S, Siddam AD, Glazewski L, Paglione E, Polson SW, Chuma S, Mason RW, Wei S, Batish M, Fowler VM, Lachke SA., Hum Mol Genet. July 29, 2020; 29 (12): 2076-2097.  |
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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome., Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ, Liu KJ., Hum Mol Genet. July 21, 2020; 29 (11): 1900-1921.  |
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Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA., Desiderio S, Vermeiren S, Van Campenhout C, Kricha S, Malki E, Richts S, Fletcher EV, Vanwelden T, Schmidt BZ, Henningfeld KA, Pieler T, Woods CG, Nagy V, Verfaillie C, Bellefroid EJ., Cell Rep. March 26, 2019; 26 (13): 3522-3536.e5.  |
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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery., Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, University of Washington Center for Mendelian Genomics, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB., Nat Genet. June 1, 2016; 48 (6): 648-56.  |
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Bone density ligand, Sclerostin, directly interacts with LRP5 but not LRP5G171V to modulate Wnt activity., Ellies DL, Viviano B, McCarthy J, Rey JP, Itasaki N, Saunders S, Krumlauf R., J Bone Miner Res. November 1, 2006; 21 (11): 1738-49.  |
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