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Search Results

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL, Godwin A, Wheway G, Stals K, Nazlamova L, Ellard S, Alfares A, Aloraini T, AlSubaie L, Alfadhel M, Alajaji S, Wai HA, Self J, Douglas AGL, Kao AP, Guille M, Baralle D., Genome Med. February 25, 2021; 13 (1): 34.            

Retinoic acid production, regulation and containment through Zic1, Pitx2c and Cyp26c1 control cranial placode specification., Dubey A, Yu J, Liu T, Kane MA, Saint-Jeannet JP., Development. February 16, 2021; 148 (4):


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.                        

Xenopus leads the way: Frogs as a pioneering model to understand the human brain., Exner CRT, Willsey HR., Genesis. February 1, 2021; 59 (1-2): e23405.          

Neural tube closure requires the endocytic receptor Lrp2 and its functional interaction with intracellular scaffolds., Kowalczyk I, Lee C, Schuster E, Hoeren J, Trivigno V, Riedel L, Görne J, Wallingford JB, Hammes A, Feistel K., Development. January 26, 2021; 148 (2):                                   

Distinct roles for prominin-1 and photoreceptor cadherin in outer segment disc morphogenesis in CRISPR-altered X. laevis., Carr BJ, Stanar P, Moritz OL., J Cell Sci. January 11, 2021; 134 (1):                           

Nucleoporin NUP205 plays a critical role in cilia and congenital disease., Marquez J, Bhattacharya D, Lusk CP, Khokha MK., Dev Biol. January 1, 2021; 469 46-53.                        

Rewiring Endogenous Bioelectric Circuits in the Xenopus laevis Embryo Model., Nanos V, Levin M., Methods Mol Biol. January 1, 2021; 2258 93-103.

FAM83F regulates canonical Wnt signalling through an interaction with CK1α., Dunbar K, Jones RA, Dingwell K, Macartney TJ, Smith JC, Sapkota GP., Life Sci Alliance. December 24, 2020; 4 (2):                                   

Mechanistic Insights into Regulation of the ALC1 Remodeler by the Nucleosome Acidic Patch., Lehmann LC, Bacic L, Hewitt G, Brackmann K, Sabantsev A, Gaullier G, Pytharopoulou S, Degliesposti G, Okkenhaug H, Tan S, Costa A, Skehel JM, Boulton SJ, Deindl S., Cell Rep. December 22, 2020; 33 (12): 108529.                  

Generation of a FOXH1 homozygous knockout human embryonic stem cell line by CRISPR/Cas9 system., Zhang T, Huang W, Xue X., Stem Cell Res. December 10, 2020; 50 102121.  

Wnt-inducible Lrp6-APEX2 interacting proteins identify ESCRT machinery and Trk-fused gene as components of the Wnt signaling pathway., Colozza G, Jami-Alahmadi Y, Dsouza A, Tejeda-Muñoz N, Albrecht LV, Sosa EA, Wohlschlegel JA, De Robertis EM., Sci Rep. December 9, 2020; 10 (1): 21555.            

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation., Schneider R, Deutsch K, Hoeprich GJ, Marquez J, Hermle T, Braun DA, Seltzsam S, Kitzler TM, Mao Y, Buerger F, Majmundar AJ, Onuchic-Whitford AC, Kolvenbach CM, Schierbaum L, Schneider S, Halawi AA, Nakayama M, Mann N, Connaughton DM, Klämbt V, Wagner M, Riedhammer KM, Renders L, Katsura Y, Thumkeo D, Soliman NA, Mane S, Lifton RP, Shril S, Khokha MK, Hoefele J, Goode BL, Hildebrandt F., Am J Hum Genet. December 3, 2020; 107 (6): 1113-1128.

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.                      

Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis., Louis-Dit-Picard H, Kouranti I, Rafael C, Loisel-Ferreira I, Chavez-Canales M, Abdel-Khalek W, Argaiz ER, Baron S, Vacle S, Migeon T, Coleman R, Do Cruzeiro M, Hureaux M, Thurairajasingam N, Decramer S, Girerd X, O'Shaugnessy K, Mulatero P, Roussey G, Tack I, Unwin R, Vargas-Poussou R, Staub O, Grimm R, Welling PA, Gamba G, Clauser E, Hadchouel J, Jeunemaitre X., J Clin Invest. December 1, 2020; 130 (12): 6379-6394.

Confirming Antibody Specificity in Xenopus., Martin SA, Page SJ, Piccinni MZ, Guille MJ., Cold Spring Harb Protoc. December 1, 2020; 2020 (12):


The Molecular Basis of Host Selection in a Crucifer-Specialized Moth., Liu XL, Zhang J, Yan Q, Miao CL, Han WK, Hou W, Yang K, Hansson BS, Peng YC, Guo JM, Xu H, Wang CZ, Dong SL, Knaden M., Curr Biol. November 16, 2020; 30 (22): 4476-4482.e5.

CRISPR/Cas 9-Mediated Mutations as a New Tool for Studying Taste in Honeybees., Değirmenci L, Geiger D, Rogé Ferreira FL, Keller A, Krischke B, Beye M, Steffan-Dewenter I, Scheiner R., Chem Senses. November 7, 2020; 45 (8): 655-666.

TMEM79/MATTRIN defines a pathway for Frizzled regulation and is required for Xenopus embryogenesis., Chen M, Amado N, Tan J, Reis A, Ge M, Abreu JG, He X., Elife. September 14, 2020; 9                                                                                           

Maximizing CRISPR/Cas9 phenotype penetrance applying predictive modeling of editing outcomes in Xenopus and zebrafish embryos., Naert T, Tulkens D, Edwards NA, Carron M, Shaidani NI, Wlizla M, Boel A, Demuynck S, Horb ME, Coucke P, Willaert A, Zorn AM, Vleminckx K., Sci Rep. September 4, 2020; 10 (1): 14662.                      

RNA-Seq analysis on ets1 mutant embryos of Xenopus tropicalis identifies microseminoprotein beta gene 3 as an essential regulator of neural crest migration., Wang C, Qi X, Zhou X, Sun J, Cai D, Lu G, Chen X, Jiang Z, Yao YG, Chan WY, Zhao H., FASEB J. September 1, 2020; 34 (9): 12726-12738.

Evolution of the endothelin pathway drove neural crest cell diversification., Square TA, Jandzik D, Massey JL, Romášek M, Stein HP, Hansen AW, Purkayastha A, Cattell MV, Medeiros DM., Nature. September 1, 2020; 585 (7826): 563-568.

Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development., Farley-Barnes KI, Deniz E, Overton MM, Khokha MK, Baserga SJ., PLoS Genet. August 19, 2020; 16 (8): e1008967.                                    

CRISPR/Cas9 mediated mutation of the mtnr1a melatonin receptor gene causes rod photoreceptor degeneration in developing Xenopus tropicalis., Wiechmann AF, Martin TA, Horb ME., Sci Rep. August 13, 2020; 10 (1): 13757.                                  

Defective heart chamber growth and myofibrillogenesis after knockout of adprhl1 gene function by targeted disruption of the ancestral catalytic active site., Smith SJ, Towers N, Demetriou K, Mohun TJ., PLoS One. July 29, 2020; 15 (7): e0235433.                                            

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., Hum Mol Genet. July 21, 2020; 29 (11): 1900-1921.                  

Functional analysis of the OsNPF4.5 nitrate transporter reveals a conserved mycorrhizal pathway of nitrogen acquisition in plants., Wang S, Chen A, Xie K, Yang X, Luo Z, Chen J, Zeng D, Ren Y, Yang C, Wang L, Feng H, López-Arredondo DL, Herrera-Estrella LR, Xu G., Proc Natl Acad Sci U S A. July 14, 2020; 117 (28): 16649-16659.            

LaALMT1 mediates malate release from phosphorus-deficient white lupin root tips and metal root to shoot translocation., Zhou Y, Neuhäuser B, Neumann G, Ludewig U., Plant Cell Environ. July 1, 2020; 43 (7): 1691-1706.

A simple and practical workflow for genotyping of CRISPR-Cas9-based knockout phenotypes using multiplexed amplicon sequencing., Iida M, Suzuki M, Sakane Y, Nishide H, Uchiyama I, Yamamoto T, Suzuki KT, Fujii S., Genes Cells. July 1, 2020; 25 (7): 498-509.                    

The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos., Willsey HR, Xu Y, Everitt A, Dea J, Exner CRT, Willsey AJ, State MW, Harland RM., Development. June 22, 2020; 147 (21):                             

Dynamic properties of noise and Her6 levels are optimized by miR-9, allowing the decoding of the Her6 oscillator., Soto X, Biga V, Kursawe J, Lea R, Doostdar P, Thomas R, Papalopulu N., EMBO J. June 17, 2020; 39 (12): e103558.                      

Nocodazole-Induced Expression and Phosphorylation of Anillin and Other Mitotic Proteins Are Decreased in DNA-Dependent Protein Kinase Catalytic Subunit-Deficient Cells and Rescued by Inhibition of the Anaphase-Promoting Complex/Cyclosome with proTAME but Not Apcin., Douglas P, Ye R, Radhamani S, Cobban A, Jenkins NP, Bartlett E, Roveredo J, Kettenbach AN, Lees-Miller SP., Mol Cell Biol. June 15, 2020; 40 (13):                   

Simple embryo injection of long single-stranded donor templates with the CRISPR/Cas9 system leads to homology-directed repair in Xenopus tropicalis and Xenopus laevis., Nakayama T, Grainger RM, Cha SW., Genesis. June 1, 2020; 58 (6): e23366.                

Glucocorticoid receptor is required for survival through metamorphosis in the frog Xenopus tropicalis., Sterner ZR, Shewade LH, Mertz KM, Sturgeon SM, Buchholz DR., Gen Comp Endocrinol. May 15, 2020; 291 113419.              

Leishmania heme uptake involves LmFLVCRb, a novel porphyrin transporter essential for the parasite., Cabello-Donayre M, Orrego LM, Herráez E, Vargas P, Martínez-García M, Campos-Salinas J, Pérez-Victoria I, Vicente B, Marín JJG, Pérez-Victoria JM., Cell Mol Life Sci. May 1, 2020; 77 (9): 1827-1845.

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.          

Chromatin accessibility dynamics and single cell RNA-Seq reveal new regulators of regeneration in neural progenitors., Kakebeen AD, Chitsazan AD, Williams MC, Saunders LM, Wills AE., Elife. April 27, 2020; 9                             

Cooperation of the NEIL3 and Fanconi anemia/BRCA pathways in interstrand crosslink repair., Li N, Wang J, Wallace SS, Chen J, Zhou J, D'Andrea AD., Nucleic Acids Res. April 6, 2020; 48 (6): 3014-3028.            

An intestinal zinc sensor regulates food intake and developmental growth., Redhai S, Pilgrim C, Gaspar P, Giesen LV, Lopes T, Riabinina O, Grenier T, Milona A, Chanana B, Swadling JB, Wang YF, Dahalan F, Yuan M, Wilsch-Brauninger M, Lin WH, Dennison N, Capriotti P, Lawniczak MKN, Baines RA, Warnecke T, Windbichler N, Leulier F, Bellono NW, Miguel-Aliaga I., Nature. April 1, 2020; 580 (7802): 263-268.

Thyroid hormone receptor beta is critical for intestinal remodeling during Xenopus tropicalis metamorphosis., Shibata Y, Tanizaki Y, Shi YB., Cell Biosci. March 27, 2020; 10 46.                            

HSF2BP negatively regulates homologous recombination in DNA interstrand crosslink repair., Sato K, Brandsma I, van Rossum-Fikkert SE, Verkaik N, Oostra AB, Dorsman JC, van Gent DC, Knipscheer P, Kanaar R, Zelensky AN., Nucleic Acids Res. March 18, 2020; 48 (5): 2442-2456.                    

The secreted BMP antagonist ERFE is required for the development of a functional circulatory system in Xenopus., Melchert J, Henningfeld KA, Richts S, Lingner T, Jonigk D, Pieler T., Dev Biol. March 15, 2020; 459 (2): 138-148.                                

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders., Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogné B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gérard M, Putoux A, C4RCD Research Group, Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D., Am J Hum Genet. March 5, 2020; 106 (3): 338-355.                            

RBL1 (p107) functions as tumor suppressor in glioblastoma and small-cell pancreatic neuroendocrine carcinoma in Xenopus tropicalis., Naert T, Dimitrakopoulou D, Tulkens D, Demuynck S, Carron M, Noelanders R, Eeckhout L, Van Isterdael G, Deforce D, Vanhove C, Van Dorpe J, Creytens D, Vleminckx K., Oncogene. March 1, 2020; 39 (13): 2692-2706.          

Bringing immersive science to undergraduate laboratory courses using CRISPR gene knockouts in frogs and butterflies., Martin A, Wolcott NS, O'Connell LA., J Exp Biol. February 7, 2020; 223 (Pt Suppl 1):


The myeloid lineage is required for the emergence of a regeneration-permissive environment following Xenopus tail amputation., Aztekin C, Hiscock TW, Butler R, De Jesús Andino F, Robert J, Gurdon JB, Jullien J., Development. February 5, 2020; 147 (3):                                     

Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects., Marquez J, Criscione J, Charney RM, Prasad MS, Hwang WY, Mis EK, García-Castro MI, Khokha MK., J Clin Invest. February 3, 2020; 130 (2): 813-826.                                

Kinesin Kif2C in regulation of DNA double strand break dynamics and repair., Zhu S, Paydar M, Wang F, Li Y, Wang L, Barrette B, Bessho T, Kwok BH, Peng A., Elife. January 17, 2020; 9                                                         

The tumor suppressor PTPRK promotes ZNRF3 internalization and is required for Wnt inhibition in the Spemann organizer., Chang LS, Kim M, Glinka A, Reinhard C, Niehrs C., Elife. January 14, 2020; 9                                                                                               

Shear force sensing of epithelial Na+ channel (ENaC) relies on N-glycosylated asparagines in the palm and knuckle domains of αENaC., Knoepp F, Ashley Z, Barth D, Baldin JP, Jennings M, Kazantseva M, Saw EL, Katare R, Alvarez de la Rosa D, Weissmann N, Fronius M., Proc Natl Acad Sci U S A. January 7, 2020; 117 (1): 717-726.          

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