| Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers. | Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers.
Kim JW, Rim D, Ann CH, Lee SH. | 09/12/2023 |
| Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients. | Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients.
Zemorshidi F, Nafissi S, Boostani R, Karimiani EG, Ashtiani BH, Karimzadeh P, Miryounesi M, Tonekaboni SH, Nilipour Y. | 08/19/2023 |
| Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene. | Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.
Wu T, Zhang C, He F, Yang L, Yin F, Peng J., Free PMC Article | 07/19/2023 |
| Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. | Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.
Bardhan M, Polavarapu K, Bevinahalli NN, Veeramani PK, Anjanappa RM, Arunachal G, Shingavi L, Vengalil S, Nashi S, Chawla T, Nagabushana D, Mohan D, Horvath R, Nishino I, Atchayaram N. | 12/11/2021 |
| Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients. | Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients.
Chan SH, Ho RS, Khong PL, Chung BH, Tsang MH, Yu MH, Yeung MC, Chan AO, Fung CW. | 03/27/2021 |
| Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. | Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.
Marchet S, Invernizzi F, Blasevich F, Bruno V, Dusi S, Venco P, Fiorillo C, Baranello G, Pallotti F, Lamantea E, Mora M, Tiranti V, Lamperti C. | 05/2/2020 |
| findings suggest that CKbeta, in concert with CKalpha, and depending on its phosphorylation status, might play a critical role as a druggable target in carcinogenesis | Phosphorylation of Human Choline Kinase Beta by Protein Kinase A: Its Impact on Activity and Inhibition.
Chang CC, Few LL, Konrad M, See Too WC., Free PMC Article | 07/15/2017 |
| The whole exome sequencing revealed a novel homozygous missense mutation in the Choline Kinase-Beta (CHKB) gene in exon 9. | Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.
Yis U, Baydan F, Karakaya M, Hız Kurul S, Cirak S., Free PMC Article | 02/4/2017 |
| A new form of congenital muscular dystrophy with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta gene defects has been characterized. | 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. | 09/24/2016 |
| A novel silent variant in the choline kinase beta causing muscular dystrophy. | 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. | 03/5/2016 |
| Its mutations cause congenital muscular dystrophy.[Review] | [New congenital muscular dystrophy due to CHKB mutations].
Nishino I. | 08/22/2015 |
| study identified a novel haplotype consisting of the indel variation, which had not been detected in previous studies in Japanese and Korean populations, and observed four single-nucleotide polymorphisms in CHKB/CPT1B | 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., Free PMC Article | 11/29/2014 |
| CHKB encodes choline kinase beta, an enzyme that catalyzes the first de-novo biosynthetic step of phosphatidylcholine, the most abundant phospholipid in the eukaryotic membrane [review] | Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.
Mitsuhashi S, Nishino I. | 04/19/2014 |
| CHKB activity was reduced in all three patients, significant reduction in choline:N-acetyl aspartate and choline:creatine ratios in keeping with a general decrease in the amount of choline and phosphocholine-based substrate | 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. | 02/15/2014 |
| The study extends on the observation of a strong multiethnic association of polymorphisms in the TCRA and P2RY11 with narcolepsy, but does not confirm the association of CPT1B/CHKB (rs5770917) in the Chinese population. | 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., Free PMC Article | 07/14/2012 |
| homozygous or compound heterozygous mutations in the gene encoding choline kinase beta were identified in individulas with congenital muscular dystrophy. | 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., Free PMC Article | 08/20/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesPhysiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
Ruaño G, Thompson PD, Kane JP, Pullinger CR, Windemuth A, Seip RL, Kocherla M, Holford TR, Wu AH. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. | 09/15/2010 |
| kinetic studies revealed that HC-3 is a much more potent inhibitor for ChoKalpha isoforms (alpha1 and alpha2) compared with ChoKbeta. | 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., Free PMC Article | 06/28/2010 |
| ChoKalpha and ChoKbeta isoforms have different physiological roles and implications in human carcinogenesis | 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., Free PMC Article | 05/3/2010 |
| Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy was significantly associated with SNP rs5770917 (located between CPT1B and CHKB) and HLA-DRB1*1501-DQB1*0602 haplotype | 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, Miyagawa T, Honda M, Kawashima M, Shimada M, Tanaka S, Honda Y, Tokunaga K., Free PMC Articles: PMC2671172, PMC2671172 | 01/21/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | 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, Miyagawa T, Honda M, Kawashima M, Shimada M, Tanaka S, Honda Y, Tokunaga K., Free PMC Articles: PMC2671172, PMC2671172 | 05/17/2009 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | See all PubMed (2) articlesVariation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
Ruaño G, Bernene J, Windemuth A, Bower B, Wencker D, Seip RL, Kocherla M, Holford TR, Petit WA, Hanks S. | 03/25/2009 |
| A single nucleotide polymorphism located between CPT1B and CHKB, was associated with narcolepsy in Japanese (rs5770917[C], odds ratio (OR) = 1.79, combined P = 4.4 x 10(-7)) and other ancestry groups (OR = 1.40, P = 0.02). | 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, 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. | 01/21/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | 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, 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. | 10/8/2008 |