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Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival., Griffin C, Coppenrath K, Khan D, Lin Z, Horb M, Saint-Jeannet JP., Dis Model Mech. March 1, 2025; 18 (3):
Neuroinflammation as a cause of differential Müller cell regenerative responses to retinal injury., García-García D, Vidal-Gil L, Parain K, Lun J, Audic Y, Chesneau A, Siron L, Van Westendorp D, Lourdel S, Sánchez-Sáez X, Kazani D, Ricard J, Pottin S, Donval A, Bronchain O, Locker M, Roger JE, Borday C, Pla P, Bitard J, Perron M., Sci Adv. October 4, 2024; 10 (40): eadp7916.
A retroviral link to vertebrate myelination through retrotransposon-RNA-mediated control of myelin gene expression., Ghosh T, Almeida RG, Zhao C, Mannioui A, Martin E, Fleet A, Chen CZ, Assinck P, Ellams S, Gonzalez GA, Graham SC, Rowitch DH, Stott K, Adams I, Zalc B, Goldman N, Lyons DA, Franklin RJM., Cell. February 15, 2024; 187 (4): 814-830.e23.
Genetically engineered human embryonic kidney cells as a novel vehicle for dual patch clamp study of human gap junction channels., Chen H, Li YX, Wong RS, Esseltine JL, Bai D., Biochem J. June 19, 2024; 481 (12): 741-758.
Expanding EMC foldopathies: Topogenesis deficits alter the neural crest., Marquez J, Aslam F, Khokha MK., Genesis. September 15, 2023; 61 (5): e23520.
The USP46 complex deubiquitylates LRP6 to promote Wnt/β-catenin signaling., Ng VH, Spencer Z, Neitzel LR, Nayak A, Loberg MA, Shen C, Kassel SN, Kroh HK, An Z, Anthony CC, Bryant JM, Lawson A, Goldsmith L, Benchabane H, Hansen AG, Li J, D'Souza S, Lebensohn AM, Rohatgi R, Weiss WA, Weiss VL, Williams C, Hong CC, Robbins DJ, Ahmed Y, Lee E., Nat Commun. October 5, 2023; 14 (1): 6173.
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.
Pleiotropy of autism-associated chromatin regulators., Lasser M, Sun N, Xu Y, Wang S, Drake S, Law K, Gonzalez S, Wang B, Drury V, Castillo O, Zaltsman Y, Dea J, Bader E, McCluskey KE, State MW, Willsey AJ, Willsey HR., Development. July 15, 2023; 150 (14):
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.
CRISPR/Cas-mediated mRNA knockdown in the embryos of Xenopus tropicalis., Lin XL, Zhou YM, Meng K, Yang JY, Zhang H, Lin JH, Wu HY, Wang XY, Zhao H, Feng SS, Park KS, Cai DQ, Zheng L, Qi XF., Cell Biosci. April 23, 2025; 15 (1): 52.
A chloroplast localized heavy metal-associated domain containing protein regulates grain calcium accumulation in rice., Liu H, Lu C, Liu XQ, Zhuo CJ, Luo RJ, Huang QT, Tang Z, Zhao CQ, Guerinot ML, Salt DE, Zhao FJ, Huang XY., Nat Commun. October 27, 2024; 15 (1): 9265.
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability., Deniz E, Pasha M, Guerra ME, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani SA, Medne L, Skraban C, Krantz I, Khokha MK., Dev Biol. July 1, 2023; 499 75-88.
High frequency of melanoma in cdkn2b-/- /tp53-/- Xenopus tropicalis., Ran R, Li L, Cheng P, Li H, He H, Chen Y, Hang J, Liang W., Theranostics. November 4, 2024; 14 (19): 7470-7487.
SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability., O'Brien MP, Pryzhkova MV, Lake EMR, Mandino F, Shen X, Karnik R, Atkins A, Xu MJ, Ji W, Konstantino M, Brueckner M, Ment LR, Khokha MK, Jordan PW., Int J Mol Sci. December 28, 2023; 25 (1):
ZSWIM4 regulates embryonic patterning and BMP signaling by promoting nuclear Smad1 degradation., Wang C, Liu Z, Zeng Y, Zhou L, Long Q, Hassan IU, Zhang Y, Qi X, Cai D, Mao B, Lu G, Sun J, Yao Y, Deng Y, Zhao Q, Feng B, Zhou Q, Chan WY, Zhao H., EMBO Rep. February 1, 2024; 25 (2): 646-671.
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies., Kalanithy JC, Mingardo E, Stegmann JD, Dhakar R, Dakal TC, Rosenfeld JA, Tan WH, Coury SA, Woerner AC, Sebastian J, Levy PA, Fleming LR, Waffenschmidt L, Lindenberg TT, Yilmaz Ö, Channab K, Babra BK, Christ A, Eiberger B, Hölzel S, Vidic C, Häberlein F, Ishorst N, Rodriguez-Gatica JE, Pezeshkpoor B, Kupczyk PA, Vanakker OM, Loddo S, Novelli A, Dentici ML, Becker A, Thiele H, Posey JE, Lupski JR, Hilger AC, Reutter HM, Merz WM, Dworschak GC, Odermatt B., J Med Genet. January 27, 2025; 62 (2): 126-137.
Prominin-1 null Xenopus laevis develop subretinal drusenoid-like deposits, cone-rod dystrophy, and RPE atrophy., Carr BJ, Skitsko D, Kriese LM, Song J, Li Z, Ju MJ, Moritz OL., J Cell Sci. October 2, 2024;
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow., Kim AH, Sakin I, Viviano S, Tuncel G, Aguilera SM, Goles G, Jeffries L, Ji W, Lakhani SA, Kose CC, Silan F, Oner SS, Kaplan OI, MarmaRare Group, Ergoren MC, Mishra-Gorur K, Gunel M, Sag SO, Temel SG, Deniz E., Life Sci Alliance. October 21, 2024; 7 (10):
The role of aquaporins in osmotic cell lysis induced by Bacillus thuringiensis Cry1Ac toxin in Helicoverpa armigera., Cai Y, Hou B, Fabrick JA, Yang Y, Wu Y., Pestic Biochem Physiol. September 1, 2024; 204 106068.
Simplifying Genotyping of Mutants from Genome Editing with a Parallel qPCR-Based iGenotype Index., Fu L, Wang S, Liu L, Shibata Y, Okada M, Luu N, Shi YB., Cells. January 29, 2024; 13 (3):
Sall4 regulates downstream patterning genes during limb regeneration., Erickson JR, Walker SE, Arenas Gomez CM, Echeverri K., Dev Biol. November 25, 2024; 515 151-159.
Cerebellar granular neuron progenitors exit their germinative niche via BarH-like1 activity mediated partly by inhibition of T-cell factor., Bou-Rouphael J, Doulazmi M, Eschstruth A, Abdou A, Durand BC., Development. July 1, 2024; 151 (13):
The Heterotaxy Gene CCDC11 Is Important for Cytokinesis via RhoA Regulation., Kulkarni SS, Stephenson RE, Amalraj S, Arrigo A, Betleja E, Moresco JJ, Yates JR, Mahjoub MR, Miller AL, Khokha MK., Cytoskeleton (Hoboken). October 31, 2024;
Revealing mitf functions and visualizing allografted tumor metastasis in colorless and immunodeficient Xenopus tropicalis., Ran R, Li L, Xu T, Huang J, He H, Chen Y., Commun Biol. March 5, 2024; 7 (1): 275.
A Huluwa phosphorylation switch regulates embryonic axis induction., Li Y, Yan Y, Gong B, Zheng Q, Zhou H, Sun J, Li M, Wang Z, Li Y, Wan Y, Chen W, Qi S, Mo X, Meng A, Xiang B, Chen J., Nat Commun. November 19, 2024; 15 (1): 10028.
Opposing roles for Bmp signalling during the development of electrosensory lateral line organs., Campbell AS, Minařík M, Franěk R, Vazačová M, Havelka M, Gela D, Pšenička M, Baker CVH., Elife. January 2, 2025; 14
Current genetic models for studying congenital heart diseases: Advantages and disadvantages., Shorbaji A, Pushparaj PN, Bakhashab S, Al-Ghafari AB, Al-Rasheed RR, Siraj Mira L, Basabrain MA, Alsulami M, Abu Zeid IM, Naseer MI, Rasool M., Bioinformation. January 1, 2024; 20 (5): 415-429.
Mitochondrial leak metabolism induces the Spemann-Mangold Organizer via Hif-1α in Xenopus., MacColl Garfinkel A, Mnatsakanyan N, Patel JH, Wills AE, Shteyman A, Smith PJS, Alavian KN, Jonas EA, Khokha MK., Dev Cell. November 20, 2023; 58 (22): 2597-2613.e4.
A CRISPR-Cas9-mediated versatile method for targeted integration of a fluorescent protein gene to visualize endogenous gene expression in Xenopus laevis., Mochii M, Akizuki K, Ossaka H, Kagawa N, Umesono Y, Suzuki KT., Dev Biol. February 1, 2024; 506 42-51.
Non-coding cause of congenital heart defects: Abnormal RNA splicing with multiple isoforms as a mechanism for heterotaxy., Wells JR, Padua MB, Haaning AM, Smith AM, Morris SA, Tariq M, Ware SM., HGG Adv. September 10, 2024; 5 (4): 100353.
Marcks and Marcks-like 1 proteins promote spinal cord development and regeneration in Xenopus., El Amri M, Pandit A, Schlosser G., Elife. December 12, 2024; 13
Targets of the transcription factor Six1 identify previously unreported candidate deafness genes., Ranganathan R, Sari F, Wang SX, Thiery A, Buzzi AL, Guerra R, Moody SA, Streit A., Development. April 1, 2025; 152 (7):
Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease., Marquez J, Viviano S, Beckman E, Thies J, Friedland-Little J, Lam CT, Deniz E, Shelkowitz E., HGG Adv. February 10, 2025; 6 (2): 100418.
Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in Xenopus trachea-esophageal morphogenesis., Edwards NA, Rankin SA, Kashyap A, Warren A, Agricola ZN, Kenny AP, Kofron M, Shen Y, Chung WK, Zorn AM., Dev Cell. May 21, 2025;
Generating Retinal Injury Models in Xenopus Tadpoles., Parain K, Donval A, Chesneau A, Lun JX, Borday C, Perron M., J Vis Exp. October 13, 2023; (200):
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.
PARP1-dependent DNA-protein crosslink repair., Fábián Z, Kakulidis ES, Hendriks IA, Kühbacher U, Larsen NB, Oliva-Santiago M, Wang J, Leng X, Dirac-Svejstrup AB, Svejstrup JQ, Nielsen ML, Caldecott K, Duxin JP., Nat Commun. August 5, 2024; 15 (1): 6641.
Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility., McCluskey KE, Stovell KM, Law K, Kostyanovskaya E, Schmidt JD, Exner CRT, Dea J, Brimble E, State MW, Willsey AJ, Willsey HR., Nat Commun. March 6, 2025; 16 (1): 2238.
Mechanisms of regeneration: to what extent do they recapitulate development?, Aztekin C., Development. July 15, 2024; 151 (14):
A vertebrate Vangl2 translational variant required for planar cell polarity., Walton A, Thomé V, Revinski D, Marchetto S, Puvirajesinghe TM, Audebert S, Camoin L, Bailly E, Kodjabachian L, Borg JP., J Biol Chem. April 1, 2024; 300 (4): 106792.
Catalytic and noncatalytic functions of DNA polymerase κ in translesion DNA synthesis., Sellés-Baiget S, Ambjørn SM, Carli A, Hendriks IA, Gallina I, Davey NE, Benedict B, Zarantonello A, Gadi SA, Meeusen B, Hertz EPT, Slappendel L, Semlow D, Sturla S, Nielsen ML, Nilsson J, Miller TCR, Duxin JP., Nat Struct Mol Biol. September 19, 2024;
The FAM13A Long Isoform Regulates Cilia Movement and Coordination in Airway Mucociliary Transport., Howes A, Rogerson C, Belyaev N, Karagyozova T, Rapiteanu R, Fradique R, Pellicciotta N, Mayhew D, Hurd C, Crotta S, Singh T, Dingwell K, Myatt A, Arad N, Hasan H, Bijlsma H, Panjwani A, Vijayan V, Young G, Bridges A, Petit-Frere S, Betts J, Larminie C, Smith JC, Hessel EM, Michalovich D, Walport L, Cicuta P, Powell AJ, Beinke S, Wack A., Am J Respir Cell Mol Biol. September 1, 2024; 71 (3): 282-293.
Influence of Two Hexose Transporters on Substrate Affinity and Pathogenicity in Magnaporthe oryzae., Huang T, Guo D, Luo X, Chen R, Wang W, Xu H, Chen S, Lin F., Microorganisms. March 28, 2024; 12 (4):
Mutations in the histone methyltransferase Ezh2 drive context-dependent leukemia in Xenopus tropicalis., Tulkens D, Boelens M, Naert T, Carron M, Demuynck S, Dewaele S, Van Isterdael G, Creytens D, Pieters T, Goossens S, Van Vlierberghe P, Vleminckx K., Leukemia. December 1, 2023; 37 (12): 2404-2413.
Genomic Complexity of ccdc40 in Xenopus : Implications for CRISPR Targeting and Disease Modeling., Nakayama T, Kulkarni S., MicroPubl Biol. May 9, 2025; 2025
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. August 12, 2023; 4 (4): 100232.
Knockdown of NeuroD2 leads to seizure-like behavior, brain neuronal hyperactivity and a leaky blood-brain barrier in a Xenopus laevis tadpole model of DEE75., Banerjee S, Szyszka P, Beck CW., Genetics. July 8, 2024; 227 (3):
Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia., Mayayo-Vallverdú C, Gaitán-Peñas H, Armand-Ugon M, Muhaisen A, Prat E, Castellanos A, Elorza-Vidal X, de Heredia ML, Alonso-Gardón M, Pérez-Rius C, Vecino-Pérez M, Mallen A, Errasti-Murugarren E, Hueso M, Artuch R, Nunes V, Estévez R., J Physiol. September 6, 2024; 602 (17): 4291-4307.
RFX6 regulates human intestinal patterning and function upstream of PDX1., Sanchez JG, Rankin S, Paul E, McCauley HA, Kechele DO, Enriquez JR, Jones NH, Greeley SAW, Letourneau-Frieberg L, Zorn AM, Krishnamurthy M, Wells JM., Development. May 1, 2024; 151 (9):
Protocols for transgenesis at a safe harbor site in the Xenopus laevis genome using CRISPR-Cas9., Shibata Y, Okumura A, Mochii M, Suzuki KT., STAR Protoc. September 15, 2023; 4 (3): 102382.

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