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Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Wilson IJ, Carling PJ, Alston CL, Floros VI, Pyle A, Hudson G, Sallevelt SC, Lamperti C, Carelli V, Bindoff LA, Samuels DC, Wonnapinij P, Zeviani M, Taylor RW, Smeets HJ, Horvath R, Chinnery PF
(2016) Hum Mol Genet 25: 1031-41
MeSH Terms: Bayes Theorem, Child, DNA, Mitochondrial, Female, Humans, Inheritance Patterns, Mitochondrial Diseases, Models, Genetic, Pedigree, Phenotype, Point Mutation, Polymorphism, Restriction Fragment Length, Publication Bias
Added February 15, 2016
0 Communities
1 Members
0 Resources
13 MeSH Terms
Proteogenomic characterization of human colon and rectal cancer.
Zhang B, Wang J, Wang X, Zhu J, Liu Q, Shi Z, Chambers MC, Zimmerman LJ, Shaddox KF, Kim S, Davies SR, Wang S, Wang P, Kinsinger CR, Rivers RC, Rodriguez H, Townsend RR, Ellis MJ, Carr SA, Tabb DL, Coffey RJ, Slebos RJ, Liebler DC, NCI CPTAC
(2014) Nature 513: 382-7
MeSH Terms: Chromosomes, Human, Pair 20, Colonic Neoplasms, CpG Islands, DNA Copy Number Variations, DNA Methylation, Genomics, Hepatocyte Nuclear Factor 4, Humans, Microsatellite Repeats, Mitochondrial Membrane Transport Proteins, Mitochondrial Precursor Protein Import Complex Proteins, Mutation, Missense, Neoplasm Proteins, Point Mutation, Proteome, Proteomics, Proto-Oncogene Mas, Proto-Oncogene Proteins pp60(c-src), RNA, Messenger, RNA, Neoplasm, Rectal Neoplasms, Transcriptome
Added December 4, 2014
0 Communities
3 Members
0 Resources
22 MeSH Terms
A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7.
Jaeschke H, Schaarschmidt J, Eszlinger M, Huth S, Puttinger R, Rittinger O, Meiler J, Paschke R
(2014) J Clin Endocrinol Metab 99: E2051-9
MeSH Terms: Adult, Austria, Base Sequence, Family Health, Female, Goiter, Nodular, Humans, Hyperthyroidism, Pedigree, Point Mutation, Pregnancy, Pregnancy Complications, Receptors, Thyrotropin, Stereoisomerism
Added January 24, 2015
1 Communities
1 Members
0 Resources
14 MeSH Terms
Error-prone replication bypass of the primary aflatoxin B1 DNA adduct, AFB1-N7-Gua.
Lin YC, Li L, Makarova AV, Burgers PM, Stone MP, Lloyd RS
(2014) J Biol Chem 289: 18497-506
MeSH Terms: Aflatoxin B1, Animals, COS Cells, Carcinoma, Hepatocellular, Chlorocebus aethiops, DNA Adducts, DNA Damage, DNA Repair, DNA Replication, DNA-Directed DNA Polymerase, Humans, Liver Neoplasms, Point Mutation
Added May 29, 2014
0 Communities
1 Members
0 Resources
13 MeSH Terms
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Johnston AJ, Kang JQ, Shen W, Pickrell WO, Cushion TD, Davies JS, Baer K, Mullins JGL, Hammond CL, Chung SK, Thomas RH, White C, Smith PEM, Macdonald RL, Rees MI
(2014) Neurobiol Dis 64: 131-141
MeSH Terms: Adult, Animals, COS Cells, Cells, Cultured, Cerebral Cortex, Child, Child, Preschool, Chlorocebus aethiops, Cohort Studies, Epilepsy, Generalized, Family, Female, HEK293 Cells, Humans, Infant, Male, Neurons, PC12 Cells, Phenotype, Point Mutation, Rats, Receptors, GABA-A, Seizures, Febrile
Added January 24, 2015
0 Communities
1 Members
0 Resources
23 MeSH Terms
Rab11-FIP2 interaction with MYO5B regulates movement of Rab11a-containing recycling vesicles.
Schafer JC, Baetz NW, Lapierre LA, McRae RE, Roland JT, Goldenring JR
(2014) Traffic 15: 292-308
MeSH Terms: Animals, Binding Sites, Carrier Proteins, Dogs, Endosomes, HeLa Cells, Humans, Madin Darby Canine Kidney Cells, Membrane Proteins, Myosin Heavy Chains, Myosin Type V, Point Mutation, Protein Binding, Protein Transport, rab GTP-Binding Proteins
Added March 10, 2014
1 Communities
3 Members
0 Resources
15 MeSH Terms
Pleiotropic effects of the trichloroethylene-associated P81S VHL mutation on metabolism, apoptosis, and ATM-mediated DNA damage response.
Desimone MC, Rathmell WK, Threadgill DW
(2013) J Natl Cancer Inst 105: 1355-64
MeSH Terms: Animals, Apoptosis, Arginine, Ataxia Telangiectasia Mutated Proteins, Carcinoma, Renal Cell, Cell Cycle Proteins, DNA Damage, DNA-Binding Proteins, Embryonic Stem Cells, Glutamine, Humans, Hypoxia-Inducible Factor 1, Immunohistochemistry, Kidney Neoplasms, Mice, Occupational Exposure, Point Mutation, Proline, Protein Array Analysis, Protein Serine-Threonine Kinases, Serine, Teratoma, Trichloroethylene, Tumor Suppressor Proteins, Ubiquitin-Protein Ligases, Von Hippel-Lindau Tumor Suppressor Protein
Added October 17, 2015
0 Communities
1 Members
0 Resources
26 MeSH Terms
Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.
Mizuno K, Boudko S, Engel J, Bächinger HP
(2013) J Biol Chem 288: 19166-76
MeSH Terms: Circular Dichroism, Collagen, Collagen Type III, Ehlers-Danlos Syndrome, Humans, Mutation, Peptidylprolyl Isomerase, Point Mutation, Protein Folding, Protein Processing, Post-Translational, Protein Structure, Secondary, Protein Structure, Tertiary, Recombinant Proteins, Temperature, Trypsin
Added November 2, 2017
0 Communities
1 Members
0 Resources
15 MeSH Terms
Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma.
Trunzer K, Pavlick AC, Schuchter L, Gonzalez R, McArthur GA, Hutson TE, Moschos SJ, Flaherty KT, Kim KB, Weber JS, Hersey P, Long GV, Lawrence D, Ott PA, Amaravadi RK, Lewis KD, Puzanov I, Lo RS, Koehler A, Kockx M, Spleiss O, Schell-Steven A, Gilbert HN, Cockey L, Bollag G, Lee RJ, Joe AK, Sosman JA, Ribas A
(2013) J Clin Oncol 31: 1767-74
MeSH Terms: Administration, Oral, Adolescent, Adult, Aged, Aged, 80 and over, Antineoplastic Agents, Apoptosis, Cell Cycle, Cell Proliferation, Disease Progression, Drug Resistance, Neoplasm, Female, GTP Phosphohydrolases, Humans, Immunohistochemistry, Indoles, MAP Kinase Kinase 1, MAP Kinase Signaling System, Male, Melanoma, Membrane Proteins, Middle Aged, Mitogen-Activated Protein Kinase Kinases, Point Mutation, Proto-Oncogene Proteins B-raf, Skin Neoplasms, Sulfonamides, Tumor Cells, Cultured, Vemurafenib
Added March 5, 2014
0 Communities
2 Members
0 Resources
29 MeSH Terms
Probing the metabotropic glutamate receptor 5 (mGlu₅) positive allosteric modulator (PAM) binding pocket: discovery of point mutations that engender a "molecular switch" in PAM pharmacology.
Gregory KJ, Nguyen ED, Reiff SD, Squire EF, Stauffer SR, Lindsley CW, Meiler J, Conn PJ
(2013) Mol Pharmacol 83: 991-1006
MeSH Terms: Alkynes, Allosteric Regulation, Allosteric Site, Amino Acids, Animals, Cell Line, Glutamic Acid, HEK293 Cells, Humans, Ligands, Point Mutation, Pyridines, Rats, Receptor, Metabotropic Glutamate 5, Receptors, Metabotropic Glutamate, Transfection
Added March 7, 2014
1 Communities
3 Members
0 Resources
16 MeSH Terms