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XB--947684
Papers associated with slc45a2 (and Disease Ontology)
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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders., Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R., Brain. April 4, 2024; 147 (4): 1436-1456.  |
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HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes., Grand K, Stoltz M, Rizzo L, Röck R, Kaminski MM, Salinas G, Getwan M, Naert T, Pichler R, Lienkamp SS., J Am Soc Nephrol. March 1, 2023; 34 (3): 412-432.  |
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Hnf1b renal expression directed by a distal enhancer responsive to Pax8., Goea L, Buisson I, Bello V, Eschstruth A, Paces-Fessy M, Le Bouffant R, Chesneau A, Cereghini S, Riou JF, Umbhauer M., Sci Rep. November 19, 2022; 12 (1): 19921.  |
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A convergent molecular network underlying autism and congenital heart disease., Rosenthal SB, Willsey HR, Xu Y, Xu Y, Mei Y, Dea J, Wang S, Curtis C, Sempou E, Khokha MK, Chi NC, Willsey AJ, Fisch KM, Ideker T., Cell Syst. November 17, 2021; 12 (11): 1094-1107.e6.  |
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Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease., Getwan M, Hoppmann A, Schlosser P, Grand K, Song W, Diehl R, Schroda S, Heeg F, Deutsch K, Hildebrandt F, Lausch E, Köttgen A, Lienkamp SS., Proc Natl Acad Sci U S A. September 28, 2021; 118 (39):  |
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Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders., Wyatt BH, Raymond TO, Lansdon LA, Darbro BW, Murray JC, Manak JR, Dickinson AJG., Genesis. February 1, 2021; 59 (1-2): e23394.  |
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The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos., Willsey HR, Xu Y, Xu Y, Everitt A, Dea J, Exner CRT, Willsey AJ, State MW, Harland RM., Development. June 22, 2020; 147 (21):  |
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Katanin-like protein Katnal2 is required for ciliogenesis and brain development in Xenopus embryos., Willsey HR, Walentek P, Exner CRT, Xu Y, Xu Y, Lane AB, Harland RM, Heald R, Santama N., Dev Biol. October 15, 2018; 442 (2): 276-287.  |
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