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Results: 1 to 10 of 38

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Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.
Ahmed IA, Farooqi MS, Vander Lugt MT, Boklan J, Rose M, Friehling ED, Triplett B, Lieuw K, Saldana BD, Smith CM, Schwartz JR, Goyal RK
(2019) Biol Blood Marrow Transplant 25: 2186-2196
MeSH Terms: Allografts, Child, Preschool, Disease-Free Survival, Female, Genetic Diseases, Inborn, Germ-Line Mutation, Hematopoietic Stem Cell Transplantation, Humans, Infant, Intracellular Signaling Peptides and Proteins, Male, Myelodysplastic Syndromes, Retrospective Studies, Survival Rate, Syndrome, Tumor Suppressor Proteins
Added September 19, 2019
0 Communities
1 Members
0 Resources
16 MeSH Terms
Pathogenic Germline Variants in 10,389 Adult Cancers.
Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ, Cancer Genome Atlas Research Network, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L
(2018) Cell 173: 355-370.e14
MeSH Terms: DNA Copy Number Variations, Databases, Genetic, Gene Deletion, Gene Frequency, Genetic Predisposition to Disease, Genotype, Germ Cells, Germ-Line Mutation, Humans, Loss of Heterozygosity, Mutation, Missense, Neoplasms, Polymorphism, Single Nucleotide, Proto-Oncogene Proteins c-met, Proto-Oncogene Proteins c-ret, Tumor Suppressor Proteins
Added October 30, 2019
0 Communities
1 Members
0 Resources
MeSH Terms
Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations.
Seow WJ, Matsuo K, Hsiung CA, Shiraishi K, Song M, Kim HN, Wong MP, Hong YC, Hosgood HD, Wang Z, Chang IS, Wang JC, Chatterjee N, Tucker M, Wei H, Mitsudomi T, Zheng W, Kim JH, Zhou B, Caporaso NE, Albanes D, Shin MH, Chung LP, An SJ, Wang P, Zheng H, Yatabe Y, Zhang XC, Kim YT, Shu XO, Kim YC, Bassig BA, Chang J, Ho JC, Ji BT, Kubo M, Daigo Y, Ito H, Momozawa Y, Ashikawa K, Kamatani Y, Honda T, Sakamoto H, Kunitoh H, Tsuta K, Watanabe SI, Nokihara H, Miyagi Y, Nakayama H, Matsumoto S, Tsuboi M, Goto K, Yin Z, Shi J, Takahashi A, Goto A, Minamiya Y, Shimizu K, Tanaka K, Wu T, Wei F, Wong JY, Matsuda F, Su J, Kim YH, Oh IJ, Song F, Lee VH, Su WC, Chen YM, Chang GC, Chen KY, Huang MS, Yang PC, Lin HC, Xiang YB, Seow A, Park JY, Kweon SS, Chen CJ, Li H, Gao YT, Wu C, Qian B, Lu D, Liu J, Jeon HS, Hsiao CF, Sung JS, Tsai YH, Jung YJ, Guo H, Hu Z, Wang WC, Chung CC, Lawrence C, Burdett L, Yeager M, Jacobs KB, Hutchinson A, Berndt SI, He X, Wu W, Wang J, Li Y, Choi JE, Park KH, Sung SW, Liu L, Kang CH, Hu L, Chen CH, Yang TY, Xu J, Guan P, Tan W, Wang CL, Sihoe AD, Chen Y, Choi YY, Hung JY, Kim JS, Yoon HI, Cai Q, Lin CC, Park IK, Xu P, Dong J, Kim C, He Q, Perng RP, Chen CY, Vermeulen R, Wu J, Lim WY, Chen KC, Chan JK, Chu M, Li YJ, Li J, Chen H, Yu CJ, Jin L, Lo YL, Chen YH, Fraumeni JF, Liu J, Yamaji T, Yang Y, Hicks B, Wyatt K, Li SA, Dai J, Ma H, Jin G, Song B, Wang Z, Cheng S, Li X, Ren Y, Cui P, Iwasaki M, Shimazu T, Tsugane S, Zhu J, Jiang G, Fei K, Wu G, Chien LH, Chen HL, Su YC, Tsai FY, Chen YS, Yu J, Stevens VL, Laird-Offringa IA, Marconett CN, Lin D, Chen K, Wu YL, Landi MT, Shen H, Rothman N, Kohno T, Chanock SJ, Lan Q
(2017) Hum Mol Genet 26: 454-465
MeSH Terms: Adenocarcinoma, Adenocarcinoma of Lung, Antigens, Nuclear, Asians, Butyrophilins, Case-Control Studies, ErbB Receptors, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Germ-Line Mutation, HLA-DP beta-Chains, Humans, Lung Neoplasms, Male, Membrane Proteins, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Sex Characteristics, Smoking, Transcription Factors, Whites
Added April 3, 2018
0 Communities
1 Members
0 Resources
23 MeSH Terms
Effects of Twelve Germline Missense Variations on DNA Lesion and G-Quadruplex Bypass Activities of Human DNA Polymerase REV1.
Yeom M, Kim IH, Kim JK, Kang K, Eoff RL, Guengerich FP, Choi JY
(2016) Chem Res Toxicol 29: 367-79
MeSH Terms: DNA, DNA Adducts, DNA Damage, G-Quadruplexes, Germ-Line Mutation, Humans, Models, Molecular, Mutation, Missense, Nuclear Proteins, Nucleotidyltransferases
Added March 14, 2018
0 Communities
1 Members
0 Resources
10 MeSH Terms
Heritable forms of pulmonary arterial hypertension.
Austin ED, Loyd JE
(2013) Semin Respir Crit Care Med 34: 568-80
MeSH Terms: Activin Receptors, Type II, Antigens, CD, Bone Morphogenetic Protein Receptors, Type II, Caveolin 1, Endoglin, Familial Primary Pulmonary Hypertension, Female, Gene-Environment Interaction, Genetic Counseling, Genetic Testing, Germ-Line Mutation, Humans, Hypertension, Pulmonary, Male, Nerve Tissue Proteins, Penetrance, Potassium Channels, Tandem Pore Domain, Pregnancy, Preimplantation Diagnosis, Receptors, Cell Surface, Sex Distribution, TGF-beta Superfamily Proteins
Added March 20, 2014
0 Communities
2 Members
0 Resources
22 MeSH Terms
Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome.
Wang Z, Sun Y, Gao B, Lu Y, Fang R, Gao Y, Xiao T, Liu XY, Pao W, Zhao Y, Chen H, Ji H
(2014) Cancer Lett 342: 36-42
MeSH Terms: Adenocarcinoma, Adenosine Triphosphatases, Adult, Animals, Animals, Genetically Modified, Base Sequence, Carcinogenesis, Cell Line, DNA Mutational Analysis, DNA Repair Enzymes, DNA-Binding Proteins, Drosophila, Female, Genetic Association Studies, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Lung Neoplasms, Male, Mice, Middle Aged, Mismatch Repair Endonuclease PMS2, Mutation, Missense, Neoplastic Syndromes, Hereditary, Pedigree, Radiography, Tumor Suppressor Protein p53, Young Adult
Added September 3, 2013
0 Communities
2 Members
0 Resources
28 MeSH Terms
Cancer pharmacogenomics: strategies and challenges.
Wheeler HE, Maitland ML, Dolan ME, Cox NJ, Ratain MJ
(2013) Nat Rev Genet 14: 23-34
MeSH Terms: Antineoplastic Agents, Clinical Trials as Topic, Genome-Wide Association Study, Germ-Line Mutation, Humans, Neoplasms, Pharmacogenetics, Reproducibility of Results, Research Design, Signal Transduction
Added February 22, 2016
0 Communities
1 Members
0 Resources
10 MeSH Terms
Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.
Freyer C, Cree LM, Mourier A, Stewart JB, Koolmeister C, Milenkovic D, Wai T, Floros VI, Hagström E, Chatzidaki EE, Wiesner RJ, Samuels DC, Larsson NG, Chinnery PF
(2012) Nat Genet 44: 1282-5
MeSH Terms: Animals, DNA Polymerase gamma, DNA, Mitochondrial, DNA-Directed DNA Polymerase, Female, Fertility, Genetic Heterogeneity, Genome, Mitochondrial, Germ-Line Mutation, Mice, Mice, Inbred C57BL, Oocytes, RNA, RNA, Mitochondrial, RNA, Transfer, Met
Added December 12, 2013
0 Communities
1 Members
0 Resources
15 MeSH Terms
Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
Yang JJ, Cheng C, Devidas M, Cao X, Campana D, Yang W, Fan Y, Neale G, Cox N, Scheet P, Borowitz MJ, Winick NJ, Martin PL, Bowman WP, Camitta B, Reaman GH, Carroll WL, Willman CL, Hunger SP, Evans WE, Pui CH, Loh M, Relling MV
(2012) Blood 120: 4197-204
MeSH Terms: Alleles, Antineoplastic Combined Chemotherapy Protocols, Biotransformation, DNA, Neoplasm, Genome-Wide Association Study, Genotype, Germ-Line Mutation, Glycogen Phosphorylase, Humans, Neoplasm Proteins, Neoplasm, Residual, Polymorphism, Single Nucleotide, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Prognosis, Recurrence, Remission Induction, Risk
Added February 22, 2016
0 Communities
1 Members
0 Resources
17 MeSH Terms
Confirmation of the HOXB13 G84E germline mutation in familial prostate cancer.
Breyer JP, Avritt TG, McReynolds KM, Dupont WD, Smith JR
(2012) Cancer Epidemiol Biomarkers Prev 21: 1348-53
MeSH Terms: Adult, Aged, Case-Control Studies, Genetic Predisposition to Disease, Genotype, Germ-Line Mutation, Homeodomain Proteins, Humans, Male, Middle Aged, Prostatic Neoplasms, Risk Assessment
Added March 7, 2014
0 Communities
2 Members
0 Resources
12 MeSH Terms