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Summary Literature (113)
Literature for DOID 17: musculoskeletal system disease


Xenbase Articles :
( Denotes literature images)
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.
Dystroglycan is required for proper retinal layering., Lunardi A,Cremisi F,Dente L, Dev Biol. February 15, 2006; 290(2):1095-564X.
Barrier-to-autointegration factor phosphorylation on Ser-4 regulates emerin binding to lamin A in vitro and emerin localization in vivo., Bengtsson L,Wilson KL, Mol Biol Cell. March 1, 2006; 17(3):1939-4586.
Mutation of single murine acetylcholine receptor subunits reveals differential contribution of P121 to acetylcholine binding and channel opening., Peter C,Korngreen A,Witzemann V, Pflugers Arch. June 1, 2005; 450(3):1432-2013.
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.
Severe neuropathy with leaky connexin32 hemichannels., Liang GS,de Miguel M,Gómez-Hernández JM,Glass JD,Scherer SS,Mintz M,Barrio LC,Fischbeck KH, Ann Neurol. May 1, 2005; 57(5):1531-8249.
Emerin expression in early development of Xenopus laevis., Gareiss M,Eberhardt K,Krüger E,Kandert S,Böhm C,Zentgraf H,Müller CR,Dabauvalle MC, Eur J Cell Biol. March 1, 2005; 84(2-3):0171-9335.
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.
Regulation and function of small heat shock protein genes during amphibian development., Heikkila JJ, J Cell Biochem. November 1, 2004; 93(4):0730-2312.
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.
Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32., Abrams CK,Freidin M,Bukauskas F,Dobrenis K,Bargiello TA,Verselis VK,Bennett MV,Chen L,Sahenk Z, J Neurosci. November 19, 2003; 23(33):1529-2401.
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.
Amyloid beta(1-42) peptide alters the gating of human and mouse alpha-bungarotoxin-sensitive nicotinic receptors., Grassi F,Palma E,Tonini R,Amici M,Ballivet M,Eusebi F, J Physiol. February 15, 2003; 547(Pt 1):0022-3751.
Investigation of nuclear architecture with a domain-presenting expression system., Dreger CK,König AR,Spring H,Lichter P,Herrmann H, J Struct Biol. January 1, 2002; 140(1-3):1047-8477.
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.
Expression of the gene encoding the beta-amyloid precursor protein APP in Xenopus laevis., van den Hurk WH,Bloemen M,Martens GJ, Brain Res Mol Brain Res. December 16, 2001; 97(1):0169-328X.
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.
Rapid functional analysis in Xenopus oocytes of Po protein adhesive interactions., Yoshida M,Colma DR, Neurochem Res. June 1, 2001; 26(6):1573-6903.
Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease., Abrams CK,Freidin MM,Verselis VK,Bennett MV,Bargiello TA, Dev Biol. May 4, 2001; 900(1):0012-1606.
Functional properties of a new voltage-dependent calcium channel alpha(2)delta auxiliary subunit gene (CACNA2D2)., Gao B,Sekido Y,Maximov A,Saad M,Forgacs E,Latif F,Wei MH,Lerman M,Lee JH,Lee JH,Perez-Reyes E,Bezprozvanny I,Minna JD, J Biol Chem. April 21, 2000; 275(16):1083-351X.
The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia., Saviane C,Conti F,Pusch M, J Gen Physiol. March 1, 1999; 113(3):1540-7748.
Chloride dependence of hyperpolarization-activated chloride channel gates., Pusch M,Jordt SE,Stein V,Jentsch TJ, J Physiol. March 1, 1999; 515 ( Pt 2):0022-3751.
A multiple subunit Mi-2 histone deacetylase from Xenopus laevis cofractionates with an associated Snf2 superfamily ATPase., Wade PA,Jones PL,Vermaak D,Wolffe AP, Curr Biol. July 2, 1998; 8(14):0960-9822.
Disruption of mitochondrial respiration inhibits volume-regulated anion channels and provokes neuronal cell swelling., Patel AJ,Lauritzen I,Lazdunski M,Honoré E, J Neurosci. May 1, 1998; 18(9):1529-2401.
Efficient repair of abasic sites in DNA by mitochondrial enzymes., Pinz KG,Bogenhagen DF, Mol Cell Biol. March 1, 1998; 18(3):1098-5549.
Dystrophin is replaced by utrophin in frog heart; implications for muscular dystrophy., Morris GE, Neuromuscul Disord. December 1, 1997; 7(8):0960-8966.
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.
Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1., Schmidt-Rose T,Jentsch TJ, J Biol Chem. August 15, 1997; 272(33):1083-351X.
Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction., Gomez CM,Maselli R,Gundeck JE,Chao M,Day JW,Tamamizu S,Lasalde JA,McNamee M,Wollmann RL, J Neurosci. June 1, 1997; 17(11):1529-2401.
Molecular basis for decreased muscle chloride conductance in the myotonic goat., Beck CL,Fahlke C,George AL, Proc Natl Acad Sci U S A. October 1, 1996; 93(20):1091-6490.
A transgenic mouse model of the slow-channel syndrome., Gomez CM,Bhattacharyya BB,Charnet P,Day JW,Labarca C,Wollmann RL,Lambert EH, Muscle Nerve. January 1, 1996; 19(1):1097-4598.
Modulation of skeletal muscle sodium channels by human myotonin protein kinase., Mounsey JP,Xu P,John JE,Horne LT,Gilbert J,Roses AD,Moorman JR, J Clin Invest. May 1, 1995; 95(5):1558-8238.
Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements., Wang YH,Griffith J, Genomics. January 20, 1995; 25(2):1089-8646.
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.
Twenty odd years of stretch-sensitive channels., Hamill OP, Pflugers Arch. December 1, 2006; 453(3):1432-2013.
Expression cloning of TMEM16A as a calcium-activated chloride channel subunit., Schroeder BC,Cheng T,Jan YN,Jan LY, Cell. September 19, 2008; 134(6):1097-4172.
Influence of lamin A on the mechanical properties of amphibian oocyte nuclei measured by atomic force microscopy., Schäpe J,Prausse S,Radmacher M,Stick R, Biophys J. May 20, 2009; 96(10):1542-0086.
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.
Testing the effects of FSHD candidate gene expression in vertebrate muscle development., Wuebbles RD,Long SW,Hanel ML,Jones PL, Int J Clin Exp Pathol. March 28, 2010; 3(4):1936-2625.
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.
Potential role of caveolin-1-positive domains in the regulation of the acetylcholine receptor's activatable pool: implications in the pathogenesis of a novel congenital myasthenic syndrome., Báez-Pagán CA,Martínez-Ortiz Y,Otero-Cruz JD,Salgado-Villanueva IK,Velázquez G,Ortiz-Acevedo A,Quesada O,Silva WI,Lasalde-Dominicci JA, Channels (Austin). January 1, 2008; 2(3):1933-6969.
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.
CNBP: a multifunctional nucleic acid chaperone involved in cell death and proliferation control., Calcaterra NB,Armas P,Weiner AM,Borgognone M, IUBMB Life. October 1, 2010; 62(10):1521-6543.
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.
Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1., Richman DP,Yu Y,Lee TT,Tseng PY,Yu WP,Maselli RA,Tang CY,Chen TY, Neuromolecular Med. December 1, 2012; 14(4):1559-1174.
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.
Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome., Walogorsky M,Mongeon R,Wen H,Mandel G,Brehm P, J Neurosci. June 6, 2012; 32(23):1529-2401.
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.
Using Xenopus tissue cultures for the study of myasthenia gravis pathogenesis., Yeo HL,Lim JY,Fukami Y,Yuki N,Lee CW,Lee CW,Lee CW, Dev Biol. December 15, 2015; 408(2):1095-564X.
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.
Activation of TRPV1 channels inhibits mechanosensitive Piezo channel activity by depleting membrane phosphoinositides., Borbiro I,Badheka D,Rohacs T, Sci Signal. February 10, 2015; 8(363):1937-9145.
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients., Vindas-Smith R,Fiore M,Vásquez M,Cuenca P,Del Valle G,Lagostena L,Gaitán-Peñas H,Estevez R,Pusch M,Morales F, Hum Mutat. January 1, 2016; 37(1):1098-1004.
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.
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function., Gurzau AD,Chen K,Xue S,Dai W,Lucet IS,Ly TTN,Reversade B,Blewitt ME,Murphy JM, J Biol Chem. June 22, 2018; 293(25):1083-351X.
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.
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4., Elia N,Palmio J,Castañeda MS,Shieh PB,Quinonez M,Suominen T,Hanna MG,Männikkö R,Udd B,Cannon SC, Neurology. March 26, 2019; 92(13):1526-632X.
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy., Park J,Flores BR,Scherer K,Kuepper H,Rossi M,Rupprich K,Rautenberg M,Deininger N,Weichselbaum A,Grimm A,Sturm M,Grasshoff U,Delpire E,Haack TB, J Med Genet. April 1, 2020; 57(4):1468-6244.
Late Endosomes Act as mRNA Translation Platforms and Sustain Mitochondria in Axons., Cioni JM,Lin JQ,Holtermann AV,Koppers M,Jakobs MAH,Azizi A,Turner-Bridger B,Shigeoka T,Franze K,Harris WA,Holt CE, Cell. January 10, 2019; 176(1-2):1097-4172.
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.
Grp94 Regulates the Recruitment of Aneural AChR Clusters for the Assembly of Postsynaptic Specializations by Modulating ADF/Cofilin Activity and Turnover., Chan ZC,Deng L,Lee CW,Lee CW,Lee CW, eNeuro. September 8, 2020; 7(5):2373-2822.
S-nitrosylation of connexin43 hemichannels elicits cardiac stress-induced arrhythmias in Duchenne muscular dystrophy mice., Lillo MA,Himelman E,Shirokova N,Xie LH,Fraidenraich D,Contreras JE, JCI Insight. December 19, 2019; 4(24):2379-3708.
Building neuromuscular junctions in vitro., Barbeau S,Tahraoui-Bories J,Legay C,Martinat C, Development. November 16, 2020; 147(22):1477-9129.
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.
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients., Brenes O,Barbieri R,Vásquez M,Vindas-Smith R,Roig J,Romero A,Valle GD,Bermúdez-Guzmán L,Bertelli S,Pusch M,Morales F, Cells. February 11, 2021; 10(2):2073-4409.
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.
Functional rice with tandemly repeated Cbl-b ubiquitin ligase inhibitory pentapeptide prevents denervation-induced muscle atrophy in vivo., Akama K,Shimajiri Y,Kainou K,Iwasaki R,Nakao R,Nikawa T,Nishikawa A, Biosci Biotechnol Biochem. May 25, 2021; 85(6):1347-6947.
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.
GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations., Hauf K,Barsch L,Bauer D,Buchert R,Armbruster A,Frauenfeld L,Grasshoff U,Eulenburg V, Neurochem Int. October 1, 2020; 139:1872-9754.
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.
The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759.
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.
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease., Cinarli Yuksel F,Nicolaou P,Spontarelli K,Dohrn MF,Rebelo AP,Koutsou P,Georghiou A,Artigas P,Züchner SL,Kleopa KA,Christodoulou K, J Neurol. May 1, 2023; 270(5):1432-1459.
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