connective tissue disease

Literature (64)

Literature for DOID 65: connective tissue disease

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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The Wnt-dependent signaling pathways as target in oncology drug discovery., Janssens N,Janicot M,Perera T, Invest New Drugs. July 1, 2006; 24(4):0167-6997.
Application of polyacrylamide gel electrophoresis of fluorophore-labeled saccharides for analysis of hyaluronan and chondroitin sulfate in human and animal tissues and cell cultures., Karousou EG,Viola M,Genasetti A,Vigetti D,Luca GD,Karamanos NK,Passi A, Biomed Chromatogr. December 1, 2005; 19(10):0269-3879.
Maternal wnt11 activates the canonical wnt signaling pathway required for axis formation in Xenopus embryos., Tao Q,Tao Q,Yokota C,Puck H,Kofron M,Birsoy B,Yan D,Asashima M,Wylie CC,Lin X,Heasman J, Cell. March 25, 2005; 120(6):1097-4172.
Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa., Virkki LV,Forster IC,Hernando N,Biber J,Murer H, J Bone Miner Res. December 1, 2003; 18(12):0884-0431.
Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX., Blaschke RJ,Töpfer C,Marchini A,Steinbeisser H,Janssen JW,Rappold GA, J Biol Chem. November 28, 2003; 278(48):1083-351X.
Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome., Preisig-Müller R,Schlichthörl G,Goerge T,Heinen S,Brüggemann A,Rajan S,Derst C,Veh RW,Daut J, Proc Natl Acad Sci U S A. May 28, 2002; 99(11):1091-6490.
Hedgehog signaling in gastrointestinal development and disease., Harmon EB,Ko AH,Kim SK, Curr Mol Med. February 1, 2002; 2(1):1875-5666.
Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding., Marcelino J,Sciortino CM,Romero MF,Ulatowski LM,Ballock RT,Economides AN,Eimon PM,Harland RM,Warman ML, Proc Natl Acad Sci U S A. September 25, 2001; 98(20):1091-6490.
Point mutations in human GLI3 cause Greig syndrome., Wild A,Kalff-Suske M,Vortkamp A,Bornholdt D,König R,Grzeschik KH, Hum Mol Genet. October 1, 1997; 6(11):1460-2083.
Analysis of the autoantibody response to fibrillarin in human disease and murine models of autoimmunity., Takeuchi K,Turley SJ,Tan EM,Pollard KM, J Immunol. January 15, 1995; 154(2):1550-6606.
Molecular cloning, functional expression, tissue distribution, and in situ hybridization of the renal sodium phosphate (Na+/P(i)) transporter in the control and hypophosphatemic mouse., Collins JF,Ghishan FK, FASEB J. August 1, 1994; 8(11):1530-6860.
Characterization of the defect in the Na(+)-phosphate transporter in vitamin D-resistant hypophosphatemic mice., Nakagawa N,Arab N,Ghishan FK, J Biol Chem. July 25, 1991; 266(21):1083-351X.
Xenopus fibrillin regulates directed convergence and extension., Skoglund P,Keller R, Dev Biol. January 15, 2007; 301(2):1095-564X.
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):0884-0431.
Paracrine and autocrine mechanisms of apelin signaling govern embryonic and tumor angiogenesis., Kälin RE,Kretz MP,Meyer AM,Kispert A,Heppner FL,Brändli AW, Dev Biol. May 15, 2007; 305(2):1095-564X.
An in vivo chemical library screen in Xenopus tadpoles reveals novel pathways involved in angiogenesis and lymphangiogenesis., Kälin RE,Bänziger-Tobler NE,Detmar M,Brändli AW, Blood. July 30, 2009; 114(5):1528-0020.
Vestibular asymmetry as the cause of idiopathic scoliosis: a possible answer from Xenopus., Lambert FM,Malinvaud D,Glaunès J,Bergot C,Straka H,Vidal PP, J Neurosci. October 7, 2009; 29(40):1529-2401.
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force., Loukin S,Zhou X,Zhou X,Su Z,Saimi Y,Kung C, J Biol Chem. August 27, 2010; 285(35):1083-351X.
Insights on the evolution of prolyl 3-hydroxylation sites from comparative analysis of chicken and Xenopus fibrillar collagens., Hudson DM,Weis M,Eyre DR, PLoS One. May 3, 2011; 6(5):1932-6203.
Intercellular signaling pathways active during and after growth and differentiation of the lumbar vertebral growth plate., Dahia CL,Mahoney EJ,Durrani AA,Wylie C, Spine (Phila Pa 1976). June 15, 2011; 36(14):1528-1159.
Isthmin inhibits glioma growth through antiangiogenesis in vivo., Yuan B,Xian R,Ma J,Chen Y,Chen Y,Lin C,Song Y, J Neurooncol. September 1, 2012; 109(2):1573-7373.
Generation of albino Xenopus tropicalis using zinc-finger nucleases., Nakajima K,Nakajima T,Takase M,Yaoita Y, Dev Growth Differ. December 1, 2012; 54(9):1440-169X.
Restricted neural plasticity in vestibulospinal pathways after unilateral labyrinthectomy as the origin for scoliotic deformations., Lambert FM,Malinvaud D,Gratacap M,Straka H,Vidal PP, J Neurosci. April 17, 2013; 33(16):1529-2401.
Identification and characterization of a small-molecule inhibitor of Wnt signaling in glioblastoma cells., De Robertis A,Valensin S,Rossi M,Tunici P,Verani M,De Rosa A,Giordano C,Varrone M,Nencini A,Pratelli C,Benicchi T,Bakker A,Hill J,Sangthongpitag K,Pendharkar V,Liu B,Ng FM,Then SW,Jing Tai S,Cheong SM,He X,Caricasole A,Salerno M, Mol Cancer Ther. July 1, 2013; 12(7):1538-8514.
Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules., Woodward OM,Tukaye DN,Cui J,Greenwell P,Constantoulakis LM,Parker BS,Rao A,Köttgen M,Maloney PC,Guggino WB, Proc Natl Acad Sci U S A. March 26, 2013; 110(13):1091-6490.
Essential roles of LEM-domain protein MAN1 during organogenesis in Xenopus laevis and overlapping functions of emerin., Reil M,Dabauvalle MC, Eur J Cell Biol. January 1, 2013; 92(8-9):0171-9335.
Type 1 sodium-dependent phosphate transporter acts as a membrane potential-driven urate exporter., Miyaji T,Kawasaki T,Togawa N,Omote H,Moriyama Y, Curr Mol Pharmacol. July 1, 2013; 6(2):1874-4702.
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome., Rienhoff HY,Yeo CY,Morissette R,Khrebtukova I,Melnick J,Luo S,Leng N,Kim YJ,Schroth G,Westwick J,Vogel H,McDonnell N,Hall JG,Whitman M, Am J Med Genet A. August 1, 2013; 161A(8):1552-4833.
A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle., Sartelet A,Stauber T,Coppieters W,Ludwig CF,Fasquelle C,Druet T,Zhang Z,Zhang Z,Zhang Z,Ahariz N,Cambisano N,Jentsch TJ,Charlier C, Dis Model Mech. January 1, 2014; 7(1):1754-8411.
Molecular asymmetry in the 8-cell stage Xenopus tropicalis embryo described by single blastomere transcript sequencing., De Domenico E,Owens ND,Grant IM,Gomes-Faria R,Gilchrist MJ, Dev Biol. December 15, 2015; 408(2):1095-564X.
A channelopathy mechanism revealed by direct calmodulin activation of TrpV4., Loukin SH,Teng J,Kung C, Proc Natl Acad Sci U S A. July 28, 2015; 112(30):1091-6490.
Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome., Devotta A,Juraver-Geslin H,Gonzalez JA,Hong CS,Saint-Jeannet JP, Dev Biol. July 15, 2016; 415(2):1095-564X.
Musculocontractural Ehlers-Danlos syndrome and neurocristopathies: dermatan sulfate is required for Xenopus neural crest cells to migrate and adhere to fibronectin., Gouignard N,Maccarana M,Strate I,von Stedingk K,Malmström A,Pera EM, Dis Model Mech. June 1, 2016; 9(6):1754-8411.
WNT16 antagonises excessive canonical WNT activation and protects cartilage in osteoarthritis., Nalesso G,Thomas BL,Sherwood JC,Yu J,Addimanda O,Eldridge SE,Thorup AS,Dale L,Schett G,Zwerina J,Eltawil N,Pitzalis C,Dell'Accio F, Ann Rheum Dis. January 1, 2017; 76(1):1468-2060.
Sox9 function in craniofacial development and disease., Lee YH,Lee YH,Saint-Jeannet JP, Genesis. April 1, 2011; 49(4):1526-968X.
Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.
Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.
Mouth development., Chen J,Jacox LA,Saldanha F,Sive H, Wiley Interdiscip Rev Dev Biol. September 1, 2017; 6(5):1759-7692.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome., Johnston JJ,Lee C,Lee C,Lee C,Wentzensen IM,Parisi MA,Crenshaw MM,Sapp JC,Gross JM,Wallingford JB,Biesecker LG, Cold Spring Harb Mol Case Stud. July 1, 2017; 3(4):2373-2873.
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6., Szenker-Ravi E,Altunoglu U,Leushacke M,Bosso-Lefèvre C,Khatoo M,Thi Tran H,Naert T,Noelanders R,Hajamohideen A,Beneteau C,de Sousa SB,Karaman B,Latypova X,Başaran S,Yücel EB,Tan TT,Vlaminck L,Nayak SS,Shukla A,Girisha KM,Le Caignec C,Soshnikova N,Uyguner ZO,Vleminckx K,Vleminckx K,Barker N,Kayserili H,Reversade B, Nature. May 1, 2018; 557(7706):0143-5221.
ITGBL1 modulates integrin activity to promote cartilage formation and protect against arthritis., Song EK,Jeon J,Jang DG,Kim HE,Sim HJ,Kwon KY,Medina-Ruiz S,Jang HJ,Lee AR,Rho JG,Lee HS,Lee HS,Kim SJ,Park CY,Myung K,Kim W,Kwon T,Yang S,Park TJ, Sci Transl Med. October 10, 2018; 10(462):1946-6242.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia., Kariminejad A,Szenker-Ravi E,Lekszas C,Tajsharghi H,Moslemi AR,Naert T,Tran HT,Ahangari F,Rajaei M,Nasseri M,Haaf T,Azad A,Superti-Furga A,Maroofian R,Ghaderi-Sohi S,Najmabadi H,Abbaszadegan MR,Vleminckx K,Vleminckx K,Nikuei P,Reversade B, Am J Hum Genet. December 5, 2019; 105(6):1537-6605.
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,Vleminckx K, Oncogene. March 1, 2020; 39(13):0950-9232.
FAM46B is a prokaryotic-like cytoplasmic poly(A) polymerase essential in human embryonic stem cells., Hu JL,Liang H,Zhang H,Yang MZ,Sun W,Zhang P,Luo L,Feng JX,Bai H,Liu F,Zhang T,Yang JY,Gao Q,Long Y,Ma XY,Chen Y,Chen Y,Zhong Q,Yu B,Liao S,Wang Y,Zhao Y,Zeng MS,Cao N,Wang J,Chen W,Yang HT,Gao S, Nucleic Acids Res. March 18, 2020; 48(5):1362-4962.
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):1476-5438.
Xenopus epidermal and endodermal epithelia as models for mucociliary epithelial evolution, disease, and metaplasia., Walentek P, Genesis. February 1, 2021; 59(1-2):1526-968X.
Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M, Cell. April 15, 2021; :1097-4172.
Molecular mechanisms of hearing loss in Nager syndrome., Maharana SK,Saint-Jeannet JP, Dev Biol. August 1, 2021; 476:1095-564X.
Genetic and Physiological Effects of Insulin on Human Urate Homeostasis., Mandal AK,Leask MP,Estiverne C,Choi HK,Merriman TR,Mount DB, Front Physiol. January 1, 2021; 12:1664-042X.
Conserved role of the urotensin II receptor 4 signalling pathway to control body straightness in a tetrapod., Alejevski F,Leemans M,Gaillard AL,Leistenschneider D,de Flori C,Bougerol M,Le Mével S,Herrel A,Fini JB,Pézeron G,Tostivint H, Open Biol. August 1, 2021; 11(8):2046-2441.
Crosstalk between repair pathways elicits double-strand breaks in alkylated DNA and implications for the action of temozolomide., Fuchs RP,Isogawa A,Paulo JA,Onizuka K,Takahashi T,Amunugama R,Duxin JP,Fujii S, Elife. July 8, 2021; 10:2050-084X.
Function of chromatin modifier Hmgn1 during neural crest and craniofacial development., Ihewulezi C,Saint-Jeannet JP, Genesis. October 1, 2021; 59(10):1526-968X.
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):1091-6490.
Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia., Yoon J,Cachau R,David VA,Thompson M,Jung W,Jee SH,Daar IO,Winkler CA,Cho SK, Biomedicines. September 6, 2021; 9(9):2227-9059.
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):1526-968X.
Ion permeation controlled by hydrophobic residues and proton binding in the proton-activated chloride channel., Cai R,Tang J,Chen XZ, iScience. November 1, 2021; 24(12):2589-0042.
The Ubiquitin Ligase TRAIP: Double-Edged Sword at the Replisome., Wu RA,Pellman DS,Walter JC, Trends Cell Biol. February 1, 2021; 31(2):1879-3088.
Engineered Wnt ligands enable blood-brain barrier repair in neurological disorders., Martin M,Vermeiren S,Bostaille N,Eubelen M,Spitzer D,Vermeersch M,Profaci CP,Pozuelo E,Toussay X,Raman-Nair J,Tebabi P,America M,De Groote A,Sanderson LE,Cabochette P,Germano RFV,Torres D,Boutry S,de Kerchove d'Exaerde A,Bellefroid EJ,Phoenix TN,Devraj K,Lacoste B,Daneman R,Liebner S,Vanhollebeke B, Science. February 18, 2022; 375(6582):1095-9203.
Phenotype-genotype relationships in Xenopus sox9 crispants provide insights into campomelic dysplasia and vertebrate jaw evolution., Hossain N,Igawa T,Suzuki M,Suzuki M,Tazawa I,Nakao Y,Hayashi T,Suzuki N,Ogino H, Dev Growth Differ. October 1, 2023; 65(8):1440-169X.
Xenopus Ssbp2 is required for embryonic pronephros morphogenesis and terminal differentiation., Cervino AS,Collodel MG,Lopez IA,Roa C,Hochbaum D,Hukriede NA,Cirio MC, Sci Rep. October 4, 2023; 13(1):2045-2322.
The structural mechanism of dimeric DONSON in replicative helicase activation., Cvetkovic MA,Passaretti P,Butryn A,Reynolds-Winczura A,Kingsley G,Skagia A,Fernandez-Cuesta C,Poovathumkadavil D,George R,Chauhan AS,Jhujh SS,Stewart GS,Gambus A,Costa A, Mol Cell. November 16, 2023; 83(22):1097-4164.
Genetic models of fibrillinopathies., Summers KM, Genetics. January 3, 2024; 226(1):1943-2631.
Novel insights into voltage-gated ion channels: Translational breakthroughs in medical oncology., Sakellakis M,Yoon SM,Reet J,Chalkias A, Channels (Austin). December 1, 2024; 18(1):1933-6969.
Ibuprofen-induced multiorgan malformation during embryogenesis in Xenopus laevis (FETAX)., Park MJ,Chae JP,Woo D,Kim JY,Kim JY,Bae YC,Lee JY,Lee JY,Lee SY,Nam EJ,Nam SW, Biochem Biophys Res Commun. April 9, 2024; 703:1090-2104.

The Wnt-dependent signaling pathways as target in oncology drug discovery., Janssens N,Janicot M,Perera T, Invest New Drugs. July 1, 2006; 24(4):0167-6997.

Application of polyacrylamide gel electrophoresis of fluorophore-labeled saccharides for analysis of hyaluronan and chondroitin sulfate in human and animal tissues and cell cultures., Karousou EG,Viola M,Genasetti A,Vigetti D,Luca GD,Karamanos NK,Passi A, Biomed Chromatogr. December 1, 2005; 19(10):0269-3879.

Maternal wnt11 activates the canonical wnt signaling pathway required for axis formation in Xenopus embryos., Tao Q,Tao Q,Yokota C,Puck H,Kofron M,Birsoy B,Yan D,Asashima M,Wylie CC,Lin X,Heasman J, Cell. March 25, 2005; 120(6):1097-4172.

Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa., Virkki LV,Forster IC,Hernando N,Biber J,Murer H, J Bone Miner Res. December 1, 2003; 18(12):0884-0431.

Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX., Blaschke RJ,Töpfer C,Marchini A,Steinbeisser H,Janssen JW,Rappold GA, J Biol Chem. November 28, 2003; 278(48):1083-351X.

Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome., Preisig-Müller R,Schlichthörl G,Goerge T,Heinen S,Brüggemann A,Rajan S,Derst C,Veh RW,Daut J, Proc Natl Acad Sci U S A. May 28, 2002; 99(11):1091-6490.

Hedgehog signaling in gastrointestinal development and disease., Harmon EB,Ko AH,Kim SK, Curr Mol Med. February 1, 2002; 2(1):1875-5666.

Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding., Marcelino J,Sciortino CM,Romero MF,Ulatowski LM,Ballock RT,Economides AN,Eimon PM,Harland RM,Warman ML, Proc Natl Acad Sci U S A. September 25, 2001; 98(20):1091-6490.

Point mutations in human GLI3 cause Greig syndrome., Wild A,Kalff-Suske M,Vortkamp A,Bornholdt D,König R,Grzeschik KH, Hum Mol Genet. October 1, 1997; 6(11):1460-2083.

Analysis of the autoantibody response to fibrillarin in human disease and murine models of autoimmunity., Takeuchi K,Turley SJ,Tan EM,Pollard KM, J Immunol. January 15, 1995; 154(2):1550-6606.

Molecular cloning, functional expression, tissue distribution, and in situ hybridization of the renal sodium phosphate (Na+/P(i)) transporter in the control and hypophosphatemic mouse., Collins JF,Ghishan FK, FASEB J. August 1, 1994; 8(11):1530-6860.

Characterization of the defect in the Na(+)-phosphate transporter in vitamin D-resistant hypophosphatemic mice., Nakagawa N,Arab N,Ghishan FK, J Biol Chem. July 25, 1991; 266(21):1083-351X.

Xenopus fibrillin regulates directed convergence and extension., Skoglund P,Keller R, Dev Biol. January 15, 2007; 301(2):1095-564X.

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):0884-0431.

Paracrine and autocrine mechanisms of apelin signaling govern embryonic and tumor angiogenesis., Kälin RE,Kretz MP,Meyer AM,Kispert A,Heppner FL,Brändli AW, Dev Biol. May 15, 2007; 305(2):1095-564X.

An in vivo chemical library screen in Xenopus tadpoles reveals novel pathways involved in angiogenesis and lymphangiogenesis., Kälin RE,Bänziger-Tobler NE,Detmar M,Brändli AW, Blood. July 30, 2009; 114(5):1528-0020.

Vestibular asymmetry as the cause of idiopathic scoliosis: a possible answer from Xenopus., Lambert FM,Malinvaud D,Glaunès J,Bergot C,Straka H,Vidal PP, J Neurosci. October 7, 2009; 29(40):1529-2401.

Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force., Loukin S,Zhou X,Zhou X,Su Z,Saimi Y,Kung C, J Biol Chem. August 27, 2010; 285(35):1083-351X.

Insights on the evolution of prolyl 3-hydroxylation sites from comparative analysis of chicken and Xenopus fibrillar collagens., Hudson DM,Weis M,Eyre DR, PLoS One. May 3, 2011; 6(5):1932-6203.

Intercellular signaling pathways active during and after growth and differentiation of the lumbar vertebral growth plate., Dahia CL,Mahoney EJ,Durrani AA,Wylie C, Spine (Phila Pa 1976). June 15, 2011; 36(14):1528-1159.

Isthmin inhibits glioma growth through antiangiogenesis in vivo., Yuan B,Xian R,Ma J,Chen Y,Chen Y,Lin C,Song Y, J Neurooncol. September 1, 2012; 109(2):1573-7373.

Generation of albino Xenopus tropicalis using zinc-finger nucleases., Nakajima K,Nakajima T,Takase M,Yaoita Y, Dev Growth Differ. December 1, 2012; 54(9):1440-169X.

Restricted neural plasticity in vestibulospinal pathways after unilateral labyrinthectomy as the origin for scoliotic deformations., Lambert FM,Malinvaud D,Gratacap M,Straka H,Vidal PP, J Neurosci. April 17, 2013; 33(16):1529-2401.

Identification and characterization of a small-molecule inhibitor of Wnt signaling in glioblastoma cells., De Robertis A,Valensin S,Rossi M,Tunici P,Verani M,De Rosa A,Giordano C,Varrone M,Nencini A,Pratelli C,Benicchi T,Bakker A,Hill J,Sangthongpitag K,Pendharkar V,Liu B,Ng FM,Then SW,Jing Tai S,Cheong SM,He X,Caricasole A,Salerno M, Mol Cancer Ther. July 1, 2013; 12(7):1538-8514.

Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules., Woodward OM,Tukaye DN,Cui J,Greenwell P,Constantoulakis LM,Parker BS,Rao A,Köttgen M,Maloney PC,Guggino WB, Proc Natl Acad Sci U S A. March 26, 2013; 110(13):1091-6490.

Essential roles of LEM-domain protein MAN1 during organogenesis in Xenopus laevis and overlapping functions of emerin., Reil M,Dabauvalle MC, Eur J Cell Biol. January 1, 2013; 92(8-9):0171-9335.

Type 1 sodium-dependent phosphate transporter acts as a membrane potential-driven urate exporter., Miyaji T,Kawasaki T,Togawa N,Omote H,Moriyama Y, Curr Mol Pharmacol. July 1, 2013; 6(2):1874-4702.

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome., Rienhoff HY,Yeo CY,Morissette R,Khrebtukova I,Melnick J,Luo S,Leng N,Kim YJ,Schroth G,Westwick J,Vogel H,McDonnell N,Hall JG,Whitman M, Am J Med Genet A. August 1, 2013; 161A(8):1552-4833.

A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle., Sartelet A,Stauber T,Coppieters W,Ludwig CF,Fasquelle C,Druet T,Zhang Z,Zhang Z,Zhang Z,Ahariz N,Cambisano N,Jentsch TJ,Charlier C, Dis Model Mech. January 1, 2014; 7(1):1754-8411.

Molecular asymmetry in the 8-cell stage Xenopus tropicalis embryo described by single blastomere transcript sequencing., De Domenico E,Owens ND,Grant IM,Gomes-Faria R,Gilchrist MJ, Dev Biol. December 15, 2015; 408(2):1095-564X.

A channelopathy mechanism revealed by direct calmodulin activation of TrpV4., Loukin SH,Teng J,Kung C, Proc Natl Acad Sci U S A. July 28, 2015; 112(30):1091-6490.

Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome., Devotta A,Juraver-Geslin H,Gonzalez JA,Hong CS,Saint-Jeannet JP, Dev Biol. July 15, 2016; 415(2):1095-564X.

Musculocontractural Ehlers-Danlos syndrome and neurocristopathies: dermatan sulfate is required for Xenopus neural crest cells to migrate and adhere to fibronectin., Gouignard N,Maccarana M,Strate I,von Stedingk K,Malmström A,Pera EM, Dis Model Mech. June 1, 2016; 9(6):1754-8411.

WNT16 antagonises excessive canonical WNT activation and protects cartilage in osteoarthritis., Nalesso G,Thomas BL,Sherwood JC,Yu J,Addimanda O,Eldridge SE,Thorup AS,Dale L,Schett G,Zwerina J,Eltawil N,Pitzalis C,Dell'Accio F, Ann Rheum Dis. January 1, 2017; 76(1):1468-2060.

Sox9 function in craniofacial development and disease., Lee YH,Lee YH,Saint-Jeannet JP, Genesis. April 1, 2011; 49(4):1526-968X.

Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.

Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.

Mouth development., Chen J,Jacox LA,Saldanha F,Sive H, Wiley Interdiscip Rev Dev Biol. September 1, 2017; 6(5):1759-7692.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome., Johnston JJ,Lee C,Lee C,Lee C,Wentzensen IM,Parisi MA,Crenshaw MM,Sapp JC,Gross JM,Wallingford JB,Biesecker LG, Cold Spring Harb Mol Case Stud. July 1, 2017; 3(4):2373-2873.

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