PubMed for id: 760976

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38525388,38087330,38069326,38016974,38009794,37949358,37621073,37546758,37415042,37034772,36977427,36696914,36291130,36117148,35843134,35835062,35547226,35524314,35513889,35498770,35445972,35011732,34911613,34888877,34531199,34196133,33849633,33822926,32401678,31672123,30957593,30949462,30879586,30849045,30591971,30413946,30214781,29924417,28983406,28730346,28649545,28638260,28276300,28238446,27625850,27493869,27215258,26565940,26266097,26166990,25866837,24464559,24385851,22450360,22209718,21980659,21508882,20352457,20079424,19852576,19580442,18752449,18466290,17212992,16019690,15938069,15365816,15128704,14662284,12825071,12442267,12204010,11862089,11855931,11708862,11528232,11505338,11186161,11121245,10673275,10571941,10556299,10444339,10417278,10068513,9792862,9233367,9156315,9129715,8668504,7577416,6760661,2073300,1552398,31721480,38101161,38018544,37661676,37561577,37452023,37355021,36977426,36943122,36768921,36729281,36674769,36300303,36122345,36084976,35997069,35977944,35710564,35695380,35260693,35137071,35048353,34943781,34884638,34643468,34572146,34440723,34312133,34237326,34165243,34097292,33975805,33625696,33355924,33341443,33308164,33208952,32972261,32727395,32564281,32389669,32354056,31888107,31601865,31570786,31361240,30892133,30671973,30554218,30139461,30030899,29806685,29549422,29421779,29323117,29260317,28950840,28643139,28629674,28490397,28465352,28276207,28198397,27734949,27656773,27451386,27269891,27181776,27102039,27083281,26994576,26655004,26523297,25947233,25811319,25586965,25326109,25165189,24525029,24319100,23861466,23782378,23716592,23651769,23640116,23169667,22982317,22912749,22786804,22649030,22578532,22544350,22528245,22310585,22065917,21900880,21897743,21786142,21553323,21546516,21392501,21360162,21211669,21195649,20877305,20865335,20843689,20826575,20733335,19428420,19414947,19259134,18578013,18186520,18178779,18174267,18008091,17709758,17643777,17597653,17534668,17471495,15879904,15750900,15719032,15622500,15583946,15465007,15225475,15042893,12885332,12644911,12628346,12425721,12370309,12138135,11731489,11689434,11562417,11516611,11171714,11150305,11001803,10863944,10730275,10625078,10482956,9587063,9537412,9366113,8830179,8812732,8707302,8644713,8172256,8089404,7877883,7851035,7663525,7494397,7453068,7317329,7246131,7211839,7034094,6996553,6956872,6801479,6711558,6292178,6038997,5006138,4470886,4335443,3939715,3921756,3823003,3822600,3618595,3518682,3452423,3368464,3048161,3027448,2088469,2003795,1867269,1546366,1018302,966608,765953,678028,569738,302820,38545650,38453654,38410245,38338900,38336618,38294933,38224843,38127152,38103556,38014003,37969115,37940765,37925441,37850020,37822124,37751742,37620780,37455452,37386678,37331334,37249461,37246456,37001724,36600389,36553645,36531726,36518005,36464518,36455825,35983540,35738466,35727386,35723315,35700695,35688708,35651541,35586652,35571017,35434383,35406807,35406673,35402607,35336802,35317362,35125035,35123586,35034900,35011739,35011573,34989402,34965410,34868664,34780973,34680526,34520410,34405919,34395390,34221386,34210362,33944532,33836064,33672000,33575541,33458478,33432774,33297742,33270859,33065193,32690634,32580281,32503896,32458401,32422869,32286238,32280591,32077940,32007859,31800572,31786115,31783995,31712186,31661163,31641587,31622992,31622246,31584473,31548351,31532602,31481649,31419780,31395843,31371346,31354022,31322558,31317539,31285331,31176983,31104080,31074291,31009468,30986880,30974974,30909423,30852186,30794806,30774622,30685240,30661260,30563299,30519924,30513914,30422029,30242621,30190640,29806776,29594088,29467429,29446030,29424915,29416314,29365190,29223976,28970524,28871612,28805337,28793998,28457177,28448414,28405942,28387306,28333931,28189159,28139029,28082515,27579165,27178132,27151922,27142334,27075874,26925513,26915455,26876101,26713894,26667712,26645327,26482480,26449607,26274536,26116764,25973949,25832695,25811383,25788439,25477908,25345100,25336909,25186209,25159476,25071085,24897400,24790750,24711561,24691095,24683407,24525030,24440466,24266577,24255892,24086399,24077756,23949631,23933103,23897790,23867043,23833178,23813804,23803255,23778185,23754982,23622908,23470078,23362610,23078879,22975335,22870586,22822152,22539671,22505687,22477272,22470381,22267244,22198250,22173187,22116783,22087400,22013525,21983636,21963264,21892118,21876735,21742091,21642506,21566637,21557113,21531621,21527470,21461447,20652328,20639338,20585145,20550473,20467383[uid]

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CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants.

Mohammadi Chermahini Z, Salehi M, Gheissari A, Ahmadi Beni F, Khosravian F, Kazemi M. Mohammadi Chermahini Z, et al. Adv Biomed Res. 2024 Jan 30;13:2. doi: 10.4103/abr.abr_149_23. eCollection 2024. Adv Biomed Res. 2024. PMID: 38525388 Free PMC article.

Horsthuis DJ, Molholm S, Foxe JJ, Francisco AA. Horsthuis DJ, et al. Orphanet J Rare Dis. 2023 Dec 12;18(1):389. doi: 10.1186/s13023-023-02985-y. Orphanet J Rare Dis. 2023. PMID: 38087330 Free PMC article.

Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation.

Thiyagarajan R, Taub M. Thiyagarajan R, et al. Int J Mol Sci. 2023 Nov 30;24(23):17004. doi: 10.3390/ijms242317004. Int J Mol Sci. 2023. PMID: 38069326 Free PMC article.

Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis.

Bondue T, Berlingerio SP, Siegerist F, Sendino-Garví E, Schindler M, Baelde HJ, Cairoli S, Goffredo BM, Arcolino FO, Dieker J, Janssen MJ, Endlich N, Brock R, Gijsbers R, van den Heuvel L, Levtchenko E. Bondue T, et al. Sci Rep. 2023 Nov 28;13(1):20961. doi: 10.1038/s41598-023-47085-w. Sci Rep. 2023. PMID: 38016974 Free PMC article.

Functional analysis of the CTNS gene exonic variants predicted to affect splicing.

Li C, Zhang R, Pan F, Xin Q, Shi X, Guo W, Qiao D, Wang Z, Zhang Y, Liu X, Zhang Y, Shao L. Li C, et al. Clin Genet. 2024 Mar;105(3):323-328. doi: 10.1111/cge.14460. Epub 2023 Nov 27. Clin Genet. 2024. PMID: 38009794

Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells.

Baysal İ, Yabanoglu-Ciftci S, Nemutlu E, Eylem CC, Gök-Topak ED, Ulubayram K, Kır S, Gulhan B, Uçar G, Ozaltin F, Topaloglu R. Baysal İ, et al. Lab Invest. 2024 Jan;104(1):100287. doi: 10.1016/j.labinv.2023.100287. Epub 2023 Nov 9. Lab Invest. 2024. PMID: 37949358

The CTNS-MTORC1 axis couples lysosomal cystine to epithelial cell fate decisions and is a targetable pathway in cystinosis.

Luciani A, Devuyst O. Luciani A, et al. Autophagy. 2024 Jan;20(1):202-204. doi: 10.1080/15548627.2023.2250165. Epub 2023 Aug 24. Autophagy. 2024. PMID: 37621073 Free PMC article.

Horsthuis DJ, Molholm S, Foxe JJ, Francisco AA. Horsthuis DJ, et al. Res Sq [Preprint]. 2023 Jul 25:rs.3.rs-3176642. doi: 10.21203/rs.3.rs-3176642/v1. Res Sq. 2023. PMID: 37546758 Free PMC article. Updated. Preprint.

Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants.

Müller S, Kluck R, Jagodzinski C, Brügelmann M, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Pavičić L, Haffner D, Zivicnjak M. Müller S, et al. Pediatr Nephrol. 2023 Dec;38(12):3989-3999. doi: 10.1007/s00467-023-06058-x. Epub 2023 Jul 7. Pediatr Nephrol. 2023. PMID: 37415042 Free PMC article.

Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties.

Francisco AA, Foxe JJ, Berruti A, Horsthuis DJ, Molholm S. Francisco AA, et al. bioRxiv [Preprint]. 2023 Apr 2:2023.03.31.535145. doi: 10.1101/2023.03.31.535145. bioRxiv. 2023. PMID: 37034772 Free PMC article. Preprint.

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