cytosine and proline

cytosine has been researched along with proline in 46 studies

Research

Studies (46)

Timeframe	Studies, this research(%)	All Research%
pre-1990	4 (8.70)	18.7374
1990's	10 (21.74)	18.2507
2000's	23 (50.00)	29.6817
2010's	7 (15.22)	24.3611
2020's	2 (4.35)	2.80

Authors

Authors	Studies
Maeda, M; Yoshida, A	1
Bertina, RM; Coenen, J; Deutz-Terlouw, PP; Leemhuis, MP; Ploos van Amstel, HK; Reitsma, PH; van der Linden, IK; van Wijngaarden, A	1
Cashman, DP; Kan, YW; Prchal, JT	1
Cardinale, GJ; Kerwar, SS; Kohn, LD; Spears, CL; Stassen, FL	1
Iwashima, A; Kawasaki, T; Nakamura, M; Nose, Y	1
Bahn, RS; Bryant, WP; Cuddihy, RM	1
Benson, MD; Gertz, MA; Uemichi, T	1
Collier, PM; Gibson, CW; Rosenbloom, SJ; Sauk, JJ; Yuan, ZA	1
Akcakaya, N; Apak, M; Camcioglu, Y; Cokugras, H; Gokgoz, N; Kayserili, H; Kirdar, B; Onay, T; Topaloglu, O; Tsui, LC; Zielenski, J	1
Brèthes, D; Chevallier, J; Ferreira, T; Napias, C	2
Fivenson, D; Han, X; Hou, Z; Ladin, D; Olson, J; Saed, GM	1
Ciechanowicz, A; Kurzawski, G; Syrenicz, A	1
Ekici, AB; Grehl, H; Korinthenberg, R; Park, O; Rautenstrauss, B	1
D'Costa, M; Ganesh, KN; Kumar, V	1
Blandin de Chalain, TM; Moko, SB	1
Kommana, P; Kumara Swamy, KC; Kumaraswamy, S	1
Boyle, D; Cumming, A; Doney, A; Fischer, B; Flavell, DM; Frew, D; Montgomery, HE; Morris, A; Palmer, CN; World, M	1
Fairbank, VF; Honig, GR; Hoyer, JD; Jones, RT; Kubik, KS; Rachut, E; Vida, LN	1
Bojesen, SE; Nordestgaard, BG; Tybjaerg-Hansen, A	1
DIXON, B; ROSE, AH	1
Hamajima, N; Hirose, K; Huang, XE; Iwata, H; Katsuda, N; Matsuo, K; Miura, S; Mizutani, M; Tajima, K; Tokudome, S; Xiang, J	1
Hoshikawa, S; Ito, S; Kaise, N; Mori, K; Nakagawa, Y; Yoshida, K	1
Atala, A; Bauer, SB; Deng, FM; Ehrlich, GD; Feather, SA; Gitlin, J; Goldberg, JD; Goodship, JA; Goodship, TH; Hermanns, M; Hu, FZ; Jiang, S; Jones, KE; Lee, A; Liang, FX; Malcolm, S; Mendelsohn, C; Ostrer, H; Preston, RA; Retik, AB; Schneck, FX; Shapiro, E; Sun, TT; Woolf, AS; Wright, V; Wu, XR; Ye, XY; Yu, J	1
Abeler, VM; Baekelandt, MM; Børresen-Dale, AL; Hainaut, P; Helland, A; Holm, R; Kringen, P; Kristensen, GB; Nesland, JM; Olivier, M; Skomedal, H; Tropé, CG; Wang, Y	1
Doney, AS; Fischer, B; Leese, G; Morris, AD; Palmer, CN	1
Arlt, W; Draper, N; Hartmann, MF; Stewart, PM; Wudy, SA	1
Berman, Z; Leshinsky-Silver, E; Lev, D; Vinkler, C; Yannov-Sharav, M	1
Blakemore, AI; El Nahas, AM; Khalil, MS	1
Akasaka, S; Gajalakshmi, V; Ishikawa, H; Jiang, J; Kuriki, K; Nakamura, S; Suzuki, S; Tokudome, S; Wang, J	1
Caplan, L; Danilov, SM; Klockgether, T; Linnebank, M; Semmler, A; Stein, RW	1
Bennett, MJ; Narayan, SB; Park, JY	1
Feng, G; Gao, J; He, L; Li, S; Li, X; Qian, X; Qin, W; Shu, A; Xing, Q; Zhang, J; Zheng, Y	1
Bertelli, M; Buda, A; Cecchin, S; Fabbri, A; Lapucci, C; Lorusso, L; Pandolfo, M; Sidoti, V	1
Ariga, T; Kida, M; Matsuda, A; Minamitake, S; Ochi, H; Sakiyama, Y; Sekiguchi, H; Takabayashi, S	1
Dressler, P; Hartmann, J; Meyer-Marcotty, P; Stellzig-Eisenhauer, A; Weisschuh, N	1
Inoue, I; Maki, K; Nakajima, T; Tajima, A; Tomoyasu, Y; Yamaguchi, T	1
Dhammawipark, C; Kitkumthorn, N; Mutirangura, A; Rabalert, J; Yanatatsaneejit, P	1
Brown, M; Cooper, ME; Crout, R; DeSensi, RS; Marazita, ML; McNeil, DW; Wang, X; Wendell, S; Weyant, RJ	1
Drozdzik, M; Dziewanowski, K; Kozak, M; Kurzawski, M; Lapczuk, J; Lipski, M; Wajda, A	1
Jung, SE; Kim, JW; Lee, KE; Lee, SK; Lee, Zh	1
Hashemi, M; Heidari, Z; Mahmoudzadeh-Sagheb, H; Rigi-Ladiz, MA	1
Beitlich, T; Lorenz, T; Reinstein, J	1
Anthonappa, RP; King, NM; Rabie, AB; Yan-Hui, F; You-Qiang, S	1
Ardebili, ZO; Ebadi, M; Iranbakhsh, A; Majd, A; Rajaee Behbahani, S	1
Akay, A; Braukmann, F; Helm, M; Hendrick, AG; Jordan, D; Kotter, A; Legrand, C; Lyko, F; Miska, EA; Navarro, IC; Price, J; Tuorto, F	1

Other Studies

46 other study(ies) available for cytosine and proline

Article	Year
Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3. Blood, 1991, Mar-15, Volume: 77, Issue:6 Topics: Adenine; Anemia, Hemolytic; Base Sequence; Cytosine; DNA; Exons; Female; Guanine; Humans; Leucine; Male; Molecular Sequence Data; Mutation; Phosphoglycerate Kinase; Proline; Thymine	1991
Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460. Blood, 1990, Aug-01, Volume: 76, Issue:3 Topics: Adult; Alleles; Amino Acid Sequence; Amino Acids; Antibodies, Monoclonal; Base Sequence; Blood Donors; Cytosine; Enzyme-Linked Immunosorbent Assay; Female; Gene Frequency; Genotype; Glycoproteins; Glycosylation; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Polymorphism, Genetic; Proline; Protein S; Serine; Thymine	1990
Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave amino-terminal methionine. Proceedings of the National Academy of Sciences of the United States of America, 1986, Volume: 83, Issue:1 Topics: Adenine; Base Sequence; Cytosine; DNA; Female; Globins; Hemoglobins, Abnormal; Histidine; Humans; Male; Methionine; Mutation; Proline; Protein Processing, Post-Translational; RNA, Messenger; Transcription, Genetic	1986
Cell-free synthesis of procollagen: L-929 fibroblasts as a cellular model for dermatosparaxis. Proceedings of the National Academy of Sciences of the United States of America, 1973, Volume: 70, Issue:5 Topics: Animals; Carbon Isotopes; Cattle; Cattle Diseases; Cell-Free System; Cells, Cultured; Chromatography; Collagen; Collagen Diseases; Cytosine; Dialysis; Fibroblasts; Freeze Drying; Hydroxyproline; Methods; Methylcellulose; Mice; Microbial Collagenase; Polyribosomes; Proline; Tritium	1973
Effect of amino acids and purine bases on thiamine synthesis by Escherichia coli. The Journal of vitaminology, 1968, Sep-10, Volume: 14, Issue:3 Topics: Adenine; Amino Acids; Aspartic Acid; Culture Media; Cystine; Cytosine; Escherichia coli; Glutamates; Glycine; Guanine; Histidine; Hypoxanthines; Inositol; Isoleucine; Leucine; Methionine; Phenylalanine; Proline; Purines; Serine; Thiamine; Thiazoles; Threonine; Thymine; Tyrosine; Uracil; Valine	1968
Normal function in vivo of a homozygotic polymorphism in the human thyrotropin receptor. Thyroid : official journal of the American Thyroid Association, 1995, Volume: 5, Issue:4 Topics: Adenine; Adult; Cytosine; Female; Homozygote; Humans; Male; Middle Aged; Polymorphism, Genetic; Proline; Protein Conformation; Receptors, Thyrotropin; Threonine	1995
A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy. Journal of medical genetics, 1995, Volume: 32, Issue:4 Topics: Aged; Amyloid Neuropathies; Cardiomyopathies; Codon; Cytosine; DNA; Exons; Family Health; Female; Genetic Variation; Heterozygote; Humans; Male; Middle Aged; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Prealbumin; Proline; Sequence Analysis, DNA; Serine; Thymine	1995
An amelogenin gene defect associated with human X-linked amelogenesis imperfecta. Archives of oral biology, 1997, Volume: 42, Issue:3 Topics: Adenine; Ameloblasts; Amelogenesis Imperfecta; Amelogenin; Base Sequence; Cytosine; Dental Enamel; Dental Enamel Proteins; Exons; Female; Genetic Linkage; Humans; Male; Pedigree; Point Mutation; Proline; Threonine; Tooth Germ; X Chromosome	1997
Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). Human genetics, 1998, Volume: 102, Issue:2 Topics: Adenine; Amino Acid Substitution; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Cytosine; Frameshift Mutation; Humans; Isoleucine; Leucine; Methionine; Mutation; Polymorphism, Genetic; Proline; Sequence Deletion; Turkey	1998
Role of the proline residue 376 in the catalytic activity of purine-cytosine permease of Saccharomyces cerevisiae. Folia microbiologica, 1998, Volume: 43, Issue:2 Topics: Adenine; Amino Acid Substitution; Blotting, Western; Carrier Proteins; Catalysis; Cell Membrane; Cytosine; Hydrogen-Ion Concentration; Hypoxanthine; Membrane Transport Proteins; Mutagenesis, Site-Directed; Nucleobase Transport Proteins; Proline; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins	1998
Analysis of p53 gene mutations in keloids using polymerase chain reaction-based single-strand conformational polymorphism and DNA sequencing. Archives of dermatology, 1998, Volume: 134, Issue:8 Topics: Adult; Apoptosis; Arginine; Cell Death; Cell Division; Cells, Cultured; Codon; Cytosine; Exons; Fibroblasts; Frameshift Mutation; Genes, p53; Guanine; Humans; Keloid; Mouth Mucosa; Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Proline; Sequence Analysis, DNA; Skin	1998
Evidence for a dynamic role for proline376 in the purine-cytosine permease of Saccharomyces cerevisiae. European journal of biochemistry, 1999, Volume: 263, Issue:1 Topics: Adenine; Alleles; Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Biological Transport, Active; Carrier Proteins; Cytosine; DNA, Fungal; Escherichia coli; Hydrogen-Ion Concentration; Hypoxanthine; Kinetics; Membrane Transport Proteins; Mutagenesis, Site-Directed; Nucleobase Transport Proteins; Point Mutation; Proline; Protein Conformation; Recombinant Proteins; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins	1999
The detection of somatic mutations of thyrotropin receptor gene in fine needle biopsy samples from thyroid nodules. Endocrine regulations, 1999, Volume: 33, Issue:3 Topics: Adenine; Adult; Base Sequence; Biopsy, Needle; Cytosine; DNA; DNA Mutational Analysis; Female; Goiter; Heterozygote; Humans; Middle Aged; Mutation; Polymerase Chain Reaction; Proline; Receptors, Thyrotropin; Threonine; Thyroid Nodule; Thyrotropin	1999
T>C transition in codon 72 (TCG-->CCG), S72P, a putative hotspot in PMP22. Human mutation, 2001, Volume: 17, Issue:1 Topics: Amino Acid Substitution; Codon; Cytosine; Hereditary Sensory and Motor Neuropathy; Humans; Mutation, Missense; Myelin Proteins; Proline; Serine; Thymine	2001
Aminoethylprolyl (aep) PNA: mixed purine/pyrimidine oligomers and binding orientation preferences for PNA:DNA duplex formation. Organic letters, 2001, May-03, Volume: 3, Issue:9 Topics: Adenine; Base Sequence; Circular Dichroism; Cytosine; DNA; Guanine; Molecular Structure; Nucleic Acid Conformation; Oligonucleotides, Antisense; Peptide Nucleic Acids; Proline; Sequence Analysis, DNA; Stereoisomerism; Thermodynamics; Thymine	2001
New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis. Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery, 2001, Volume: 29, Issue:1 Topics: Arginine; Codon; Craniosynostoses; Cytosine; Exons; Female; Fibroblast Growth Factors; Frontal Bone; Gene Expression; Genes, Dominant; Guanine; Heterozygote; Humans; Male; Mutation; Native Hawaiian or Other Pacific Islander; New Zealand; Parietal Bone; Pedigree; Phenotype; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Sequence Analysis, DNA; White People	2001
Very strong C-H...O, N-H...O, and O-H...O hydrogen bonds involving a cyclic phosphate. Journal of the American Chemical Society, 2001, Dec-19, Volume: 123, Issue:50 Topics: Adenine; Crystallography, X-Ray; Cytosine; Hydrogen Bonding; Imidazoles; Models, Molecular; Molecular Conformation; Molecular Structure; Organophosphates; Proline; Pyridinium Compounds; Uracil	2001
Haplotype analysis of the PPARgamma Pro12Ala and C1431T variants reveals opposing associations with body weight. BMC genetics, 2002, Nov-13, Volume: 3 Topics: Adult; Alanine; Amino Acid Substitution; Body Mass Index; Body Weight; Cytosine; Diabetes Mellitus, Type 2; Exercise; Female; Genetic Carrier Screening; Genetic Testing; Genetic Variation; Genotype; Haplotypes; Humans; Linkage Disequilibrium; Male; Polymorphism, Genetic; Proline; Receptors, Cytoplasmic and Nuclear; Regression Analysis; Thymine; Transcription Factors	2002
Hb Rampa [alpha 95(G2)pro-->Ser (alpha 2)] in a family of European ancestry: DNA analysis confirms the CCG-->TCG mutation at codon 95 of the alpha 2-globin gene; clinical and laboratory features. Hemoglobin, 2002, Volume: 26, Issue:4 Topics: Adult; Aged; Amino Acid Substitution; Child; Codon; Cytosine; DNA Mutational Analysis; Female; Globins; Guanine; Hemoglobins, Abnormal; Humans; Male; Middle Aged; Mutation; Pedigree; Proline; Serine; Thymine	2002
Integrin beta3 Leu33Pro homozygosity and risk of cancer. Journal of the National Cancer Institute, 2003, Aug-06, Volume: 95, Issue:15 Topics: Adult; Aged; Aged, 80 and over; Alleles; Animals; Cytosine; Denmark; Disease Progression; Female; Gene Expression Regulation, Neoplastic; Genetic Predisposition to Disease; Genotype; Humans; Incidence; Integrin beta3; Leucine; Male; Middle Aged; Neoplasm Invasiveness; Neoplasms; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Proline; Proportional Hazards Models; Prospective Studies; Registries; Risk Assessment; Risk Factors; Thymine	2003
ON THE SYNTHESIS OF ORNITHINE CARBAMOYLTRANSFERASE IN BIOTIN-DEFICIENT SACCHAROMYCES CEREVISIAE. Journal of general microbiology, 1964, Volume: 34 Topics: Amino Acids; Arginine; Aspartic Acid; Biotin; Cytosine; Cytosine Nucleotides; Glutamates; Nucleosides; Oleic Acid; Oleic Acids; Ornithine; Ornithine Carbamoyltransferase; Proline; Proteins; Research; Saccharomyces; Saccharomyces cerevisiae; Transferases; Uracil; Uracil Nucleotides; Vitamin B Deficiency	1964
Association of p53 codon Arg72Pro and p73 G4C14-to-A4T14 at exon 2 genetic polymorphisms with the risk of Japanese breast cancer. Breast cancer (Tokyo, Japan), 2003, Volume: 10, Issue:4 Topics: Adenine; Adult; Aged; Arginine; Breast Neoplasms; Carcinoma, Ductal; Case-Control Studies; Codon; Cytosine; DNA Primers; DNA-Binding Proteins; Exons; Female; Genes, Tumor Suppressor; Genotype; Guanine; Homozygote; Humans; Logistic Models; Middle Aged; Nuclear Proteins; Odds Ratio; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Proline; Thymine; Tumor Protein p73; Tumor Suppressor Protein p53; Tumor Suppressor Proteins	2003
Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia. Thyroid : official journal of the American Thyroid Association, 2004, Volume: 14, Issue:2 Topics: Adult; Amino Acid Substitution; Arginine; Artifacts; Cytosine; Dialysis; Female; Genes, Dominant; Guanine; Hemofiltration; Humans; Hyperthyroxinemia; Metabolism, Inborn Errors; Mutation; Pregnancy; Pregnancy Complications; Proline; Radioimmunoassay; Serum Albumin; Thyroxine; Thyroxine-Binding Proteins	2004
Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity. Kidney international, 2004, Volume: 66, Issue:1 Topics: Alanine; Amino Acid Substitution; Animals; Base Sequence; Case-Control Studies; Chromosome Mapping; Cytosine; Embryo, Mammalian; Exons; Gene Expression; Genetic Predisposition to Disease; Genotype; Guanine; Humans; Introns; Membrane Glycoproteins; Membrane Proteins; Mice; Mice, Inbred BALB C; Molecular Sequence Data; Mutation, Missense; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Proline; Thymine; Uroplakin Ia; Uroplakin Ib; Uroplakin II; Uroplakin III; Urothelium; Vesico-Ureteral Reflux	2004
Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma. Human mutation, 2004, Volume: 24, Issue:1 Topics: Adult; Age Factors; Aged; Aged, 80 and over; Amino Acid Substitution; Arginine; Codon; Cohort Studies; Cytosine; DNA Mutational Analysis; DNA-Binding Proteins; Female; Genes, p53; Genes, Tumor Suppressor; Genetic Variation; Guanine; Humans; Middle Aged; Neoplasm Staging; Nuclear Proteins; Ovarian Neoplasms; Phosphoproteins; Polymorphism, Genetic; Proline; Survival Analysis; Trans-Activators; Transcription Factors; Tumor Protein p73; Tumor Suppressor Protein p53; Tumor Suppressor Proteins	2004
Cardiovascular risk in type 2 diabetes is associated with variation at the PPARG locus: a Go-DARTS study. Arteriosclerosis, thrombosis, and vascular biology, 2004, Volume: 24, Issue:12 Topics: Age Factors; Alanine; Alleles; Amino Acid Substitution; Cardiovascular Diseases; Cohort Studies; Cytosine; Diabetes Mellitus, Type 2; Female; Genetic Testing; Genetic Variation; Humans; Male; Middle Aged; Myocardial Infarction; Polymorphism, Genetic; PPAR gamma; Proline; Risk Factors; Sex Factors; Smoking; Thymine	2004
A male twin infant with skull deformity and elevated neonatal 17-hydroxyprogesterone: a prismatic case of P450 oxidoreductase deficiency. Endocrine research, 2004, Volume: 30, Issue:4 Topics: 17-alpha-Hydroxyprogesterone; Abnormalities, Multiple; Alanine; Amino Acid Substitution; Cytosine; Diagnosis, Differential; Diseases in Twins; Ear; Female; Guanine; Humans; Infant, Newborn; Male; Marfan Syndrome; NADPH-Ferrihemoprotein Reductase; Proline; Skull; Steroid Metabolism, Inborn Errors; Steroids	2004
A novel missense mutation in the Connexin 26 gene associated with autosomal recessive sensorineural deafness. Hearing research, 2005, Volume: 202, Issue:1-2 Topics: Alleles; Base Sequence; Child; Connexin 26; Connexins; Conserved Sequence; Cytosine; Female; Genes, Recessive; Hearing Loss, Sensorineural; Homozygote; Humans; Leucine; Mutation, Missense; Point Mutation; Polymorphism, Restriction Fragment Length; Proline; Thymine	2005
Transforming growth factor-beta1 SNPs: genetic and phenotypic correlations in progressive kidney insufficiency. Nephron. Experimental nephrology, 2005, Volume: 101, Issue:2 Topics: Adult; Aged; Aged, 80 and over; Arginine; Case-Control Studies; Cytosine; Disease Progression; Female; Fibrosis; Gene Frequency; Genetic Predisposition to Disease; Genotype; Glomerulosclerosis, Focal Segmental; Haplotypes; Homozygote; Humans; Immunohistochemistry; Kidney; Kidney Failure, Chronic; Male; Middle Aged; Phenotype; Polymorphism, Single Nucleotide; Proline; Severity of Illness Index; Staining and Labeling; Thymine; Transforming Growth Factor beta; Transforming Growth Factor beta1	2005
Influence of the C161T but not Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma on colorectal cancer in an Indian population. Cancer science, 2005, Volume: 96, Issue:8 Topics: Adult; Aged; Alanine; Colonic Neoplasms; Colorectal Neoplasms; Cytosine; Gene Frequency; Haplotypes; Humans; India; Middle Aged; Polymorphism, Single Nucleotide; PPAR gamma; Proline; Rectal Neoplasms; Reference Values; Socioeconomic Factors; Thymopoietins	2005
Hereditary hyper-ACE-emia due to the Pro1199Leu mutation of somatic ACE as a potential pitfall in diagnosis: a first family outside Europe. Clinical chemistry and laboratory medicine, 2006, Volume: 44, Issue:9 Topics: Cytosine; Europe; Female; Genetic Predisposition to Disease; Granuloma; Humans; Leucine; Male; Peptidyl-Dipeptidase A; Point Mutation; Proline; Thymine	2006
Molecular assay for detection of the common carnitine palmitoyltransferase 1A 1436(C>T) mutation. Clinical chemistry and laboratory medicine, 2006, Volume: 44, Issue:9 Topics: Amino Acid Substitution; Base Sequence; Biological Assay; Carnitine O-Palmitoyltransferase; Cytosine; Female; Genotype; Heterozygote; Humans; Infant; Leucine; Lipid Metabolism; Male; Point Mutation; Proline; Reverse Transcriptase Polymerase Chain Reaction; Thymine	2006
A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome. Molecular vision, 2006, Aug-28, Volume: 12 Topics: Amino Acid Substitution; Asian People; Child, Preschool; Chromosomes, Human, Pair 2; Cytosine; DNA Mutational Analysis; Female; Genetic Linkage; Haplotypes; Heterozygote; Humans; Leucine; Lod Score; Male; Mutation; Paired Box Transcription Factors; PAX3 Transcription Factor; Pedigree; Phenotype; Proline; Thymine; Waardenburg Syndrome	2006
Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis. Panminerva medica, 2006, Volume: 48, Issue:3 Topics: Adenosine Triphosphatases; Adult; Aged; Cytosine; Exons; Female; Genes, Dominant; Humans; Italy; Leucine; Magnetic Resonance Imaging; Male; Mutation, Missense; Proline; Spastic Paraplegia, Hereditary; Spastin; Thymine	2006
A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta. Journal of dental research, 2007, Volume: 86, Issue:1 Topics: Amelogenesis Imperfecta; Amelogenin; Arginine; Cytosine; Dental Enamel; Exons; Female; Genetic Diseases, X-Linked; Guanine; Heterozygote; Humans; Male; Mutation, Missense; Pedigree; Proline; Spectrometry, X-Ray Emission; X-Ray Diffraction	2007
Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2008, Volume: 37, Issue:8 Topics: Adolescent; Cephalometry; Chromosomes, Human, Pair 13; Codon; Cranial Fossa, Posterior; Craniofacial Abnormalities; Cytosine; Eye Abnormalities; Facial Bones; Female; Forkhead Transcription Factors; Heterozygote; Homeobox Protein PITX2; Homeodomain Proteins; Humans; Leucine; Male; Malocclusion, Angle Class III; Maxilla; Middle Aged; Mutation, Missense; Proline; Sella Turcica; Syndrome; Thymine; Tooth Abnormalities; Transcription Factors; Young Adult	2008
Further evidence for an association between mandibular height and the growth hormone receptor gene in a Japanese population. American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics, 2009, Volume: 136, Issue:4 Topics: Adenine; Adolescent; Adult; Asian People; Black or African American; Cephalometry; China; Cysteine; Cytosine; Exons; Female; Gene Frequency; Genotype; Guanine; Hispanic or Latino; Humans; Japan; Linkage Disequilibrium; Male; Mandible; Middle Aged; Phenylalanine; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Proline; Receptors, Somatotropin; Threonine; Thymine; White People; Young Adult	2009
Association of P53 codon 72 polymorphism and ameloblastoma. Oral diseases, 2010, Volume: 16, Issue:7 Topics: Alleles; Ameloblastoma; Arginine; Codon; Cytosine; Double-Blind Method; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Guanine; Homozygote; Humans; Male; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Proline; Sex Factors; Thailand; Tumor Suppressor Protein p53	2010
Taste genes associated with dental caries. Journal of dental research, 2010, Volume: 89, Issue:11 Topics: Adenine; Adult; Alanine; Child; Child, Preschool; Cohort Studies; Cytosine; Dental Caries; Dental Caries Susceptibility; DMF Index; Female; Gene Frequency; Genetic Variation; Genotype; Guanine; Haplotypes; Humans; Linkage Disequilibrium; Male; Polymorphism, Single Nucleotide; Proline; Receptors, G-Protein-Coupled; Risk Factors; Taste; Thymine; Transducin; Valine	2010
TGF-β1 gene polymorphism in renal transplant patients with and without gingival overgrowth. Oral diseases, 2011, Volume: 17, Issue:4 Topics: Adenine; Adolescent; Adult; Aged; Arginine; Case-Control Studies; Codon; Cyclosporine; Cytosine; Female; Gene Frequency; Genotype; Gingival Overgrowth; Guanine; Haplotypes; Humans; Immunosuppressive Agents; Kidney Transplantation; Leucine; Male; Middle Aged; Polymorphism, Single Nucleotide; Proline; Promoter Regions, Genetic; Thymine; Transforming Growth Factor beta1; Young Adult	2011
Functional splicing assay of DSPP mutations in hereditary dentin defects. Oral diseases, 2011, Volume: 17, Issue:7 Topics: Adenine; Codon, Nonsense; Conserved Sequence; Cytosine; Dentin Dysplasia; Dentinogenesis Imperfecta; DNA Mutational Analysis; Exons; Extracellular Matrix Proteins; Genotype; Guanine; Humans; Isoleucine; Mutagenesis; Mutation; Mutation, Missense; Phenotype; Phosphoproteins; Polymerase Chain Reaction; Proline; RNA Splice Sites; RNA Splicing; Sialoglycoproteins; Thymine; Valine	2011
Quantitative analysis of interdental Gingiva in patients with chronic periodontitis and transforming growth factor-β1 29C/T gene polymorphisms. Journal of periodontology, 2014, Volume: 85, Issue:2 Topics: Adult; Alleles; Azo Compounds; Case-Control Studies; Chronic Periodontitis; Collagen; Coloring Agents; Connective Tissue; Cytosine; Disease Progression; Eosine Yellowish-(YS); Epithelium; Extracellular Matrix; Female; Genotype; Gingiva; Humans; Leucine; Male; Methyl Green; Microvessels; Middle Aged; Polymorphism, Genetic; Proline; Thymine; Transforming Growth Factor beta1	2014
Folding properties of cytosine monophosphate kinase from E. coli indicate stabilization through an additional insert in the NMP binding domain. PloS one, 2013, Volume: 8, Issue:10 Topics: Adenylate Kinase; Bacterial Proteins; Cytosine; Escherichia coli; Kinetics; Models, Molecular; Nucleoside-Phosphate Kinase; Proline; Protein Conformation; Protein Folding; Protein Structure, Secondary; Protein Structure, Tertiary	2013
Novel complex disease allele mutations in cleidocranial dysplasia patients. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2014, Volume: 43, Issue:10 Topics: Adenine; Alleles; Amino Acid Sequence; Asparagine; Aspartic Acid; Case-Control Studies; Cleidocranial Dysplasia; Conserved Sequence; Core Binding Factor Alpha 1 Subunit; Cytosine; Exons; Female; Guanine; Humans; Leucine; Male; Mutation, Missense; Proline; Protein Conformation; Thymine; Tooth, Supernumerary	2014
Red elemental selenium nanoparticles mediated substantial variations in growth, tissue differentiation, metabolism, gene transcription, epigenetic cytosine DNA methylation, and callogenesis in bittermelon (Momordica charantia); an in vitro experiment. PloS one, 2020, Volume: 15, Issue:7 Topics: Cytosine; DNA Methylation; Epigenesis, Genetic; Momordica charantia; Nanoparticles; Nitrate Reductase; Phenols; Phenylalanine Ammonia-Lyase; Plant Leaves; Plant Proteins; Plant Roots; Proline; Selenium; Transcription Factors; Up-Regulation	2020
Translational adaptation to heat stress is mediated by RNA 5-methylcytosine in Caenorhabditis elegans. The EMBO journal, 2021, 03-15, Volume: 40, Issue:6 Topics: 5-Methylcytosine; Adaptation, Physiological; Animals; Caenorhabditis elegans; CRISPR-Cas Systems; Cytosine; Gene Editing; Heat-Shock Response; Hot Temperature; Leucine; Methyltransferases; Mitochondria; Proline; Protein Biosynthesis; Ribosomes; RNA; RNA Processing, Post-Transcriptional	2021