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Summary Expression Phenotypes Gene Literature (155) GO Terms (14) Nucleotides (355) Proteins (94) Interactants (568) Wiki
XB--950934

Papers associated with pam (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.                            


Noncanonical function of folate through folate receptor 1 during neural tube formation., Balashova OA, Panoutsopoulos AA, Visina O, Selhub J, Knoepfler PS, Borodinsky LN., Nat Commun. February 22, 2024; 15 (1): 1642.                                


Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome., Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, McBride KL, Garg V, Shaw GM, Romitti PA, Nembhard WN, Browne ML, Werler MM, Kay DM, National Birth Defects Prevention Study, University of Washington Center for Mendelian Genomics, Mital S, Chong JX, Nascone-Yoder NM, Bamshad MJ., HGG Adv. October 12, 2023; 4 (4): 100232.            


Phenotype-genotype relationships in Xenopus sox9 crispants provide insights into campomelic dysplasia and vertebrate jaw evolution., Hossain N, Igawa T, Suzuki M, Tazawa I, Nakao Y, Hayashi T, Suzuki N, Ogino H., Dev Growth Differ. October 1, 2023; 65 (8): 481-497.                  


RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis., Wong S, Tan YX, Loh AYT, Tan KY, Lee H, Aziz Z, Nelson SF, Özkan E, Kayserili H, Escande-Beillard N, Reversade B., EMBO Mol Med. May 8, 2023; 15 (5): e17078.                


Functions of block of proliferation 1 during anterior development in Xenopus laevis., Gärtner C, Meßmer A, Dietmann P, Kühl M, Kühl SJ., PLoS One. August 2, 2022; 17 (8): e0273507.                        


Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas., Zhong G, Ahimaz P, Edwards NA, Hagen JJ, Faure C, Lu Q, Kingma P, Middlesworth W, Khlevner J, El Fiky M, Schindel D, Fialkowski E, Kashyap A, Forlenza S, Kenny AP, Zorn AM, Shen Y, Chung WK., HGG Adv. July 14, 2022; 3 (3): 100107.        


CRISPR/Cas9-Mediated Models of Retinitis Pigmentosa Reveal Differential Proliferative Response of Müller Cells between Xenopus laevis and Xenopus tropicalis., Parain K, Lourdel S, Donval A, Chesneau A, Borday C, Bronchain O, Locker M, Perron M., Cells. February 25, 2022; 11 (5):                   


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):                                                   


Stable desensitization of α7 nicotinic acetylcholine receptors by NS6740 requires interaction with S36 in the orthosteric agonist binding site., Pismataro MC, Horenstein NA, Stokes C, Dallanoce C, Thakur GA, Papke RL., Eur J Pharmacol. August 15, 2021; 905 174179.


Rab11fip5 regulates telencephalon development via ephrinB1 recycling., Yoon J, Garo J, Lee M, Sun J, Hwang YS, Daar IO., Development. February 2, 2021; 148 (3):                                                             


A System for Assessing Dual Action Modulators of Glycine Transporters and Glycine Receptors., Sheipouri D, Gallagher CI, Shimmon S, Rawling T, Vandenberg RJ., Biomolecules. November 30, 2020; 10 (12):                                                     


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):                             


Modeling ocular lens disease in Xenopus., Viet J, Reboutier D, Hardy S, Lachke SA, Paillard L, Gautier-Courteille C., Dev Dyn. May 1, 2020; 249 (5): 610-621.          


The atypical mitogen-activated protein kinase ERK3 is essential for establishment of epithelial architecture., Takahashi C, Miyatake K, Kusakabe M, Nishida E., J Biol Chem. June 1, 2018; 293 (22): 8342-8361.                                      


Co-accumulation of cis-regulatory and coding mutations during the pseudogenization of the Xenopus laevis homoeologs six6.L and six6.S., Ochi H, Kawaguchi A, Tanouchi M, Suzuki N, Kumada T, Iwata Y, Ogino H., Dev Biol. July 1, 2017; 427 (1): 84-92.                      


Functional Impact of 14 Single Nucleotide Polymorphisms Causing Missense Mutations of Human α7 Nicotinic Receptor., Zhang Q, Du Y, Zhang J, Xu X, Xue F, Guo C, Huang Y, Lukas RJ, Chang Y., PLoS One. September 4, 2015; 10 (9): e0137588.                    


Simple and efficient CRISPR/Cas9-mediated targeted mutagenesis in Xenopus tropicalis., Nakayama T, Fish MB, Fisher M, Oomen-Hajagos J, Thomsen GH, Grainger RM., Genesis. December 1, 2013; 51 (12): 835-43.            

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