PubMed (GeneRIF) for id: 729920

Year	Number of Results
2009	1
2010	2
2012	3
2013	2
2014	1
2015	4
2016	1
2020	2
2024	0

1

Hsa_circ_0079480 promotes tumor progression in acute myeloid leukemia via miR-654-3p/HDGF axis.

Hu Q, Gu Y, Chen S, Tian Y, Yang S. Hu Q, et al. Aging (Albany NY). 2020 Dec 3;13(1):1120-1131. doi: 10.18632/aging.202240. Epub 2020 Dec 3. Aging (Albany NY). 2020. PMID: 33290265 Free PMC article.

2

A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.

Song D, Fu X, Ge L, Chang X, Wei C, Liu J, Yang H, Qu S, Bao X, Toda T, Wu X, Xiong H. Song D, et al. Clin Genet. 2020 May;97(5):789-790. doi: 10.1111/cge.13695. Epub 2020 Jan 7. Clin Genet. 2020. PMID: 31909476

3

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.

Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT. Gerin I, et al. Nat Commun. 2016 May 19;7:11534. doi: 10.1038/ncomms11534. Nat Commun. 2016. PMID: 27194101 Free PMC article.

4

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

Magri F, Colombo I, Del Bo R, Previtali S, Brusa R, Ciscato P, Scarlato M, Ronchi D, D'Angelo MG, Corti S, Moggio M, Bresolin N, Comi GP. Magri F, et al. BMC Neurol. 2015 Sep 24;15:172. doi: 10.1186/s12883-015-0428-8. BMC Neurol. 2015. PMID: 26404900 Free PMC article.

5

Downregulation of dystroglycan glycosyltransferases LARGE2 and ISPD associate with increased mortality in clear cell renal cell carcinoma.

Miller MR, Ma D, Schappet J, Breheny P, Mott SL, Bannick N, Askeland E, Brown J, Henry MD. Miller MR, et al. Mol Cancer. 2015 Jul 30;14:141. doi: 10.1186/s12943-015-0416-z. Mol Cancer. 2015. PMID: 26220087 Free PMC article.

6

ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome.

Trkova M, Krutilkova V, Smetanova D, Becvarova V, Hlavova E, Jencikova N, Hodacova J, Hnykova L, Hroncova H, Horacek J, Stejskal D. Trkova M, et al. Eur J Med Genet. 2015 Aug;58(8):372-5. doi: 10.1016/j.ejmg.2015.05.004. Epub 2015 Jun 16. Eur J Med Genet. 2015. PMID: 26087224

7

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

Baranello G, Saredi S, Sansanelli S, Savadori P, Canioni E, Chiapparini L, Balestri P, Malandrini A, Arnoldi MT, Pantaleoni C, Morandi L, Mora M. Baranello G, et al. Neuromuscul Disord. 2015 Jan;25(1):55-9. doi: 10.1016/j.nmd.2014.08.007. Epub 2014 Sep 10. Neuromuscul Disord. 2015. PMID: 25444434

8

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.

Tasca G, Moro F, Aiello C, Cassandrini D, Fiorillo C, Bertini E, Bruno C, Santorelli FM, Ricci E. Tasca G, et al. Neurology. 2013 Mar 5;80(10):963-5. doi: 10.1212/WNL.0b013e3182840cbc. Epub 2013 Feb 6. Neurology. 2013. PMID: 23390185 No abstract available.

9

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.

Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P; UK10K Consortium; Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F. Cirak S, et al. Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3. Brain. 2013. PMID: 23288328 Free PMC article.

10

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attié-Bitach T, Encha-Razavi F, Seta N. Vuillaumier-Barrot S, et al. Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009. Am J Hum Genet. 2012. PMID: 23217329 Free PMC article.

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