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Items: 1 to 20 of 35

1.

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.

Yis U, Baydan F, Karakaya M, Hız Kurul S, Cirak S.

Biomed Res Int. 2016;2016:3128735. doi: 10.1155/2016/3128735. Epub 2016 Mar 31.

2.

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

Haliloglu G, Talim B, Sel CG, Topaloglu H.

J Inherit Metab Dis. 2015 Nov;38(6):1099-108. doi: 10.1007/s10545-015-9856-2. Epub 2015 Jun 12.

PMID:
26067811
3.

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

Oliveira J, Negrão L, Fineza I, Taipa R, Melo-Pires M, Fortuna AM, Gonçalves AR, Froufe H, Egas C, Santos R, Sousa M.

J Hum Genet. 2015 Jun;60(6):305-12. doi: 10.1038/jhg.2015.20. Epub 2015 Mar 5.

PMID:
25740612
4.

[New congenital muscular dystrophy due to CHKB mutations].

Nishino I.

Rinsho Shinkeigaku. 2013;53(11):1112-3. Review. Japanese.

PMID:
24291895
5.

Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.

Mitsuhashi S, Nishino I.

Curr Opin Neurol. 2013 Oct;26(5):536-43. doi: 10.1097/WCO.0b013e328364c82d. Review.

PMID:
23945283
6.

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.

Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V.

Neuromuscul Disord. 2013 Jul;23(7):549-56. doi: 10.1016/j.nmd.2013.04.002. Epub 2013 May 18.

PMID:
23692895
7.

Distinct choline metabolic profiles are associated with differences in gene expression for basal-like and luminal-like breast cancer xenograft models.

Moestue SA, Borgan E, Huuse EM, Lindholm EM, Sitter B, Børresen-Dale AL, Engebraaten O, Maelandsmo GM, Gribbestad IS.

BMC Cancer. 2010 Aug 17;10:433. doi: 10.1186/1471-2407-10-433.

8.

Choline kinase and its function.

Wu G, Vance DE.

Biochem Cell Biol. 2010 Aug;88(4):559-64. doi: 10.1139/O09-160. Review.

PMID:
20651826
9.

A new congenital muscular dystrophy with mitochondrial structural abnormalities.

Nishino I, Kobayashi O, Goto Y, Kurihara M, Kumagai K, Fujita T, Hashimoto K, Horai S, Nonaka I.

Muscle Nerve. 1998 Jan;21(1):40-7.

PMID:
9427222
10.

Crystal structures of human choline kinase isoforms in complex with hemicholinium-3: single amino acid near the active site influences inhibitor sensitivity.

Hong BS, Allali-Hassani A, Tempel W, Finerty PJ Jr, Mackenzie F, Dimov S, Vedadi M, Park HW.

J Biol Chem. 2010 May 21;285(21):16330-40. doi: 10.1074/jbc.M109.039024. Epub 2010 Mar 18.

11.

Differential role of human choline kinase alpha and beta enzymes in lipid metabolism: implications in cancer onset and treatment.

Gallego-Ortega D, Ramirez de Molina A, Ramos MA, Valdes-Mora F, Barderas MG, Sarmentero-Estrada J, Lacal JC.

PLoS One. 2009 Nov 12;4(11):e7819. doi: 10.1371/journal.pone.0007819.

12.

Structure and function of choline kinase isoforms in mammalian cells.

Aoyama C, Liao H, Ishidate K.

Prog Lipid Res. 2004 May;43(3):266-81. Review. Erratum in: Prog Lipid Res. 2004 Jul;43(4):381.

PMID:
15003397
13.

Complementary DNA sequence for a 42 kDa rat kidney choline/ethanolamine kinase.

Aoyama C, Nakashima K, Matsui M, Ishidate K.

Biochim Biophys Acta. 1998 Feb 5;1390(1):1-7.

PMID:
9487136
14.

Choline/ethanolamine kinase from mammalian tissues.

Ishidate K.

Biochim Biophys Acta. 1997 Sep 4;1348(1-2):70-8. Review. No abstract available.

PMID:
9370318
15.

Identification of the variations in the CPT1B and CHKB genes along with the HLA-DQB1*06:02 allele in Turkish narcolepsy patients and healthy persons.

Cingoz S, Agilkaya S, Oztura I, Eroglu S, Karadeniz D, Evlice A, Altungoz O, Yilmaz H, Baklan B.

Genet Test Mol Biomarkers. 2014 Apr;18(4):261-8. doi: 10.1089/gtmb.2013.0391. Epub 2014 Feb 26.

16.

Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I.

Yamazaki N, Shinohara Y, Kajimoto K, Shindo M, Terada H.

J Biol Chem. 2000 Oct 13;275(41):31739-46.

17.

TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy.

Han F, Lin L, Li J, Aran A, Dong SX, An P, Zhao L, Li QY, Yan H, Wang JS, Gao HY, Li M, Gao ZC, Strohl KP, Mignot E.

Sleep Med. 2012 Mar;13(3):269-72. doi: 10.1016/j.sleep.2011.06.020. Epub 2011 Dec 15.

18.

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I.

Am J Hum Genet. 2011 Jun 10;88(6):845-851. doi: 10.1016/j.ajhg.2011.05.010.

19.

Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).

Miyagawa T, Honda M, Kawashima M, Shimada M, Tanaka S, Honda Y, Tokunaga K.

PLoS One. 2009;4(4):e5394. doi: 10.1371/journal.pone.0005394. Epub 2009 Apr 30.

20.

Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.

Miyagawa T, Kawashima M, Nishida N, Ohashi J, Kimura R, Fujimoto A, Shimada M, Morishita S, Shigeta T, Lin L, Hong SC, Faraco J, Shin YK, Jeong JH, Okazaki Y, Tsuji S, Honda M, Honda Y, Mignot E, Tokunaga K.

Nat Genet. 2008 Nov;40(11):1324-8. doi: 10.1038/ng.231. Epub 2008 Sep 28.

PMID:
18820697

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