Gene References


RB1 (retinoblastoma 1)

Abramson DH, Ellsworth RM, Zimmerman LE. Monocular cancer in retinoblastoma survivors. Trans. Am. Acad. Ophthal. Otolaryng 1976; 81:454-7.

Araújo-Vilar D, Lattanzi G, González-Méndez B et al. Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. J Med Genet 2009; 46:40-8.

Calaf GM, Emenaker NJ, Hei TK. Effect of retinol on radiation- and estrogen-induced neoplastic transformation of human breast epithelial cells. Oncol Rep 2005; 13:1017-27.

Costea I, Moghrabi A, Krajinovic M. The influence of cyclin D1 (CCND1) 870A>G polymorphism and CCND1-thymidylate synthase (TS) gene-gene interaction on the outcome of childhood acute lymphoblastic leukaemia. Pharmacogenetics 2003; 13:577-80.

Ding L, Getz G, Wheeler DA et al. Somatic mutations affect key pathways in lung adenocarcinoma. Nature 2008; 455:1069-75.

Francois J. Retinoblastoma and osteogenic sarcoma. Ophthalmologica 1977; 175:185-91.

Fung Y-KT, Murphree AL, T’Ang A, Qian J, Hinrichs SH, Benedict WF. Structural evidence for the authenticity of the human retinoblastoma gene. Science 1987; 236:1657-61.

Gottardis MM, Saceda M, Garcia-Morales P et al. Regulation of retinoblastoma gene expression in hormone-dependent breast cancer. Endocrinology 1995; 136:5659-65.

Gutierrez GM, Kong E, Sabbagh Y et al. Impaired bone development and increased mesenchymal progenitor cells in calvaria of RB1-/- mice. Proc Natl Acad Sci USA 2008; 105:18402-7.

Hanahan D, Weinberg RA. The hallmarks of cancer. Cell 2000; 100:57-70.

Kucherlapati MH, Yang K, Fan K et al. Loss of Rb1 in the gastrointestinal tract of Apc1638N mice promotes tumors of the cecum and proximal colon. Proc Natl Acad Sci USA 2008; 105:15493-8.

Loffler KA, Biondi CA, Gartside MG et al. Lack of augmentation of tumor spectrum or severity in dual heterozygous Men1 and Rb1 knockout mice. Oncogene 2007; 26:4009-17.

Lohmann DR, Brandt B, Hopping W, Passarge E, Horsthemke B. The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Am J Hum Genet 1996; 58:940-9.

Lohmann DR, Gerick M, Brandt B et al. Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. Am J Hum Genet 1997; 61:282-94.

Matsunaga E. Hereditary retinoblastoma: host resistance and second primary tumors. J Nat Cancer Inst 1980; 65:47-51.

Wang Y, Hayward SW, Donjacour AA et al. Sex hormone-induced carcinogenesis in Rb-deficient prostate tissue. Cancer Res 2000; 60:6008-17.

Zhang GS, Liu DS, Dai CW, Li RJ. Antitumor effects of celecoxib on K562 leukemia cells are mediated by cell-cycle arrest, caspase-3 activation, and downregulation of Cox-2 expression and are synergistic with hydroxyurea or imatinib. Am J Hematol 2006; 81:242-55.

REN (renin)

Bleyer AJ, Zivná M, Hulková H et al. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol 2010; 74:411-22.

Geese WJ, Achanzar W, Rubin C et al. Genetic and gene expression studies implicate renin and endothelin-1 in edema caused by peroxisome proliferator-activated receptor gamma agonists. Pharmacogenet Genomics 2008; 18:903-10.

Gribouval O, Gonzales M, Neuhaus T et al. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet 2005; 37:964-8.

van Hooft IM, Grobbee DE, Derkx FH, de Leeuw PW, Schalekamp MA, Hofman A. Renal hemodynamics and the renin-angiotensin-aldosterone system in normotensive subjects with hypertensive and normotensive parents. N Engl J Med 1991; 324:1305-11.

Wada T, Kang HS, Angers M et al. Identification of oxysterol 7alpha-hydroxylase (Cyp7b1) as a novel retinoid-related orphan receptor alpha (RORalpha) (NR1F1) target gene and a functional cross-talk between RORalpha and liver X receptor (NR1H3). Mol Pharmacol 2008; 73:891-9.

RET (ret proto-oncogene)

Attie T, Pelet A, Edery P et al. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Molec Genet 1995; 4:1381-6.

Batourina E, Gim S, Bello N et al. Vitamin A controls epithelial/mesenchymal interactions through Ret expression. Nat Genet 2001; 27:74-8.

Bolk GS, Salomon R, Pelet A et al. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 2002; 31:89-93.

de Pontual L, Pelet A, Trochet D et al. Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus. J Med Genet 2006; 43:419-23.

Deonna T, Arczynska W, Torrado A. Congenital failure of automatic ventilation (Ondine’s curse). J Pediat 1974; 84:710-4.

Dluhy RG. Pheochromocytoma-death of an axiom. New Eng J Med 2002; 346:1486-8.

Elisei R, Romei C, Cosci B et al. RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. J Clin Endocr Metab 2007; 92:4725-9.

Eng C, Crossey PA, Mulligan LM et al. Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J Med Genet 1995; 32:934-7.

Fernández RM, Boru G, Pecina A et al. Ancestral RET haplotype associated with Hirschsprung’s disease shows linkage disequilibrium breakpoint at -1249. J Med Genet 2005; 42:322-7.

Huang SC, Koch CA, Vortmeyer AO et al. Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas. Cancer Res 2000; 60:6223-6.

Huang SC, Torres-Cruz J, Pack SD et al. Amplification and overexpression of mutant RET in multiple endocrine neoplasia type 2-associated medullary thyroid carcinoma. J Clin Endocr Metab 2003; 88:459-63.

Kim HK, Jung HY, Lim S et al. A study of RET proto-oncogene polymorphisms in association with lung cancer risk in the Korean population. Anticancer Res 2010; 30:3621-7.

Kimpfler S, Sevko A, Ring S et al. Skin melanoma development in ret transgenic mice despite the depletion of CD25+Foxp3+ regulatory T cells in lymphoid organs. J Immunol 2009; 183:6330-7.

Koch CA, Huang SC, Moley JF et al. Allelic imbalance of the mutant and wild-type RET allele in MEN 2A-associated medullary thyroid carcinoma. Oncogene 2001; 20:7809-11.

Maher ER, Eng C. The pressure rises: update on the genetics of phaeochromocytoma. Hum Molec Genet 2002; 11:2347-54.

Mulligan LM, Eng C, Healey CS et al. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 1994; 6:70-4.

Neumann HPH, Bausch B, McWhinney SR et al. Germ-line mutations in nonsyndromic pheochromocytoma. New Eng J Med 2002; 346:1459-66.

Ramacher M, Umansky V, Efferth T. Effect of artesunate on immune cells in ret-transgenic mouse melanoma model. Anticancer Drugs 2009; 20:910-7.

Ruiz-Ferrer M, Fernández RM, Antinolo G, López-Alonso M, Eng C, Borrego S. A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes. Genet Med 2006; 8:704-10.

Siqueira DR, Romitti M, da Rocha AP et al. The RET polymorphic allele S836S is associated with early metastatic disease in patients with hereditary or sporadic medullary thyroid carcinoma. Endocr Relat Cancer 2010; 17:953-63.

Skinner MA, Safford SD, Reeves JG, Jackson ME, Freemerman AJ. Renal aplasia in humans is associated with RET mutations. Am J Hum Genet 2008; 82:344-51.

RGS2 (regulator of G-protein signaling 2, 24kDa)

Greenbaum L, Strous RD, Kanyas K et al. Association of the RGS2 gene with extrapyramidal symptoms induced by treatment with antipsychotic medication. Pharmacogenet Genomics 2007; 17:519-28.

Jiang Z, Wang Z, Xu Y, Wang B, Huang W, Cai S. Analysis of RGS2 expression and prognostic significance in stage II and III colorectal cancer. Biosci Rep 2010; 30:383-90.

Thompson MD, Cole DE, Jose PA. Pharmacogenomics of G protein-coupled receptor signaling: insights from health and disease. Methods Mol Biol 2008; 448:77-107.

Wang J, Lippman SM, Lee JJ et al. Genetic variations in regulator of G-protein signaling genes as susceptibility loci for second primary tumor/recurrence in head and neck squamous cell carcinoma. Carcinogenesis 2010; 31:1755-61.

Zhao Q, Wang L, Yang W et al. Interactions among genetic variants from contractile pathway of vascular smooth muscle cell in essential hypertension susceptibility of Chinese Han population. Pharmacogenet Genomics 2008; 18:459-66.

RGS4 (regulator of G-protein signalling 4)

Campbell DB, Ebert PJ, Skelly T et al. Ethnic stratification of the association of RGS4 variants with antipsychotic treatment response in schizophrenia. Biol Psychiatry 2008; 63:32-41.

Grillet N, Pattyn A, Contet C, Kieffer BL, Goridis C, Brunet JF. Generation and characterization of Rgs4 mutant mice. Mol Cell Biol 2005; 25:4221-8.

Iankova I, Chavey C, Clapé C et al. Regulator of G protein signaling-4 controls fatty acid and glucose homeostasis. Endocrinology 2008; 149:5706-12.

Kato T. Molecular genetics of bipolar disorder and depression. Psychiatry Clin Neurosci 2007; 61:3-19.

Prasad KM, Almasy L, Gur RC et al. RGS4 polymorphisms associated with variability of cognitive performance in a family-based schizophrenia sample. Schizophr Bull 2010; 36:983-90.

Prathikanti S, Weinberger DR. Psychiatric genetics-the new era: genetic research and some clinical implications. Br Med Bull 2005; 73-4:107-22.

RRAS2 (related RAS viral (r-ras) oncogene homolog 2)

Chan AM, Miki T, Meyers KA, Aaronson SA. A human oncogene of the RAS superfamily unmasked by expression cDNA cloning. Proc Natl Acad Sci USA 1994; 91:7558-62.

Rokavec M, Schroth W, Amaral SM et al. A polymorphism in the TC21 promoter associates with an unfavorable tamoxifen treatment outcome in breast cancer. Cancer Res 2008; 68:9799-808.

RRM1 (ribonucleotide reductase M1)

Dong S, Guo AL, Chen ZH et al. RRM1 single nucleotide polymorphism -37C→A correlates with progression-free survival in NSCLC patients after gemcitabine-based chemotherapy. J Hematol Oncol 2010; 3:10.

Tanaka M, Javle M, Dong X, Eng C, Abbruzzese JL, Li D. Gemcitabine metabolic and transporter gene polymorphisms are associated with drug toxicity and efficacy in patients with locally advanced pancreatic cancer. Cancer 2010; 116:5325-35.

RYR1 (ryanodine receptor 1 (skeletal))

Bhuiyan ZA, van den Berg MP, van Tintelen JP et al. Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. Circulation 2007; 116:1569-76.

Eckhardt LL, Farley AL, Rodriguez E et al. KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties. Heart Rhythm 2007; 4:323-9.

Ferreiro A, Monnier N, Romero NB et al. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol 2002; 51:750-9.

Keating KE, Quane KA, Manning BM et al. Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum Mol Genet 1994; 3:1855-8.

Kossugue PM, Paim JF, Navarro MM et al. Central core disease due to recessive mutations in RYR1 gene: is it more common than described? Muscle Nerve 2007; 35:670-4.

Jungbluth H, Müller CR, Halliger-Keller B et al. Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology 2002; 59:284-7.

Lynch PJ, Tong J, Lehane M et al. A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Proc Natl Acad Sci USA 1999; 96:4164-9.

Manning BM, Quane KA, Ording H et al. Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet 1998; 62:599-609.

Ochi R, Gupte SA. Ryanodine receptor: a novel therapeutic target in heart disease. Recent Patents Cardiovasc Drug Discov 2007; 2:110-8.

Otsu K, Nishida K, Kimura Y et al. The point mutation Arg615→Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. J Biol Chem 1994; 269:9413-5.

Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2007; 50:1813-21.

Tanabe T, Fukusaki M, Terao Y et al. Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation. J Anesth 2008; 22:70-3.

Wilmshurst JM, Lillis S, Zhou H et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010; 68:717-26.

Xu L, Wang Y, Yamaguchi N, Pasek DA, Meissner G. Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies. J Biol Chem 2008; 283:6321-9.

Zhou H, Jungbluth H, Sewry CA et al. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain 2007; 130:2024-36.

Zorzato F, Yamaguchi N, Xu L et al. Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. Hum Mol Genet 2003; 12:379-88.

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