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A mutation in the Na-K-2Cl cotransporter-1 leads to changes in cellular metabolism.
Omer S, Koumangoye R, Delpire E
(2020) J Cell Physiol 235: 7239-7250
MeSH Terms: Adolescent, Animals, Cell Line, DNA, Mitochondrial, Dogs, Energy Metabolism, Female, Fibroblasts, Glycolysis, Humans, Madin Darby Canine Kidney Cells, Mice, Mice, Inbred C57BL, Mice, Mutant Strains, Microscopy, Electron, Transmission, Mitochondria, Multiple Organ Failure, Mutant Proteins, Mutation, Recombinant Fusion Proteins, Sequence Deletion, Solute Carrier Family 12, Member 2
Added February 28, 2020
1 Communities
1 Members
0 Resources
22 MeSH Terms
Identification of Targetable Recurrent MAP3K8 Rearrangements in Melanomas Lacking Known Driver Mutations.
Lehmann BD, Shaver TM, Johnson DB, Li Z, Gonzalez-Ericsson PI, Sánchez V, Shyr Y, Sanders ME, Pietenpol JA
(2019) Mol Cancer Res 17: 1842-1853
MeSH Terms: Algorithms, Cell Line, Tumor, Databases, Genetic, Female, Gene Amplification, Gene Expression Regulation, Neoplastic, Humans, MAP Kinase Kinase Kinases, Male, Melanoma, Protein Kinase Inhibitors, Proto-Oncogene Proteins, Sequence Analysis, RNA, Sequence Deletion, Survival Analysis, Translocation, Genetic, Up-Regulation
Added March 30, 2020
0 Communities
1 Members
0 Resources
17 MeSH Terms
Structural, functional, and behavioral insights of dopamine dysfunction revealed by a deletion in .
Campbell NG, Shekar A, Aguilar JI, Peng D, Navratna V, Yang D, Morley AN, Duran AM, Galli G, O'Grady B, Ramachandran R, Sutcliffe JS, Sitte HH, Erreger K, Meiler J, Stockner T, Bellan LM, Matthies HJG, Gouaux E, Mchaourab HS, Galli A
(2019) Proc Natl Acad Sci U S A 116: 3853-3862
MeSH Terms: Animals, Animals, Genetically Modified, Autism Spectrum Disorder, Crystallography, X-Ray, Dopamine, Dopamine Plasma Membrane Transport Proteins, Drosophila melanogaster, Electron Spin Resonance Spectroscopy, Fear, Humans, Interpersonal Relations, Locomotion, Models, Molecular, Mutation, Sequence Deletion
Added March 18, 2020
0 Communities
2 Members
0 Resources
MeSH Terms
Use of deep whole-genome sequencing data to identify structure risk variants in breast cancer susceptibility genes.
Guo X, Shi J, Cai Q, Shu XO, He J, Wen W, Allen J, Pharoah P, Dunning A, Hunter DJ, Kraft P, Easton DF, Zheng W, Long J
(2018) Hum Mol Genet 27: 853-859
MeSH Terms: BRCA1 Protein, Breast Neoplasms, Fanconi Anemia Complementation Group N Protein, Female, Genetic Predisposition to Disease, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Membrane Proteins, PTEN Phosphohydrolase, Rad51 Recombinase, Sequence Deletion, Tumor Suppressor Protein p53
Added April 3, 2018
0 Communities
3 Members
0 Resources
13 MeSH Terms
BRAF internal deletions and resistance to BRAF/MEK inhibitor therapy.
Johnson DB, Childress MA, Chalmers ZR, Frampton GM, Ali SM, Rubinstein SM, Fabrizio D, Ross JS, Balasubramanian S, Miller VA, Stephens PJ, Sosman JA, Lovly CM
(2018) Pigment Cell Melanoma Res 31: 432-436
MeSH Terms: Adult, Amino Acid Substitution, Base Sequence, Drug Resistance, Neoplasm, Female, Humans, Imidazoles, MAP Kinase Signaling System, Melanoma, Mutation, Missense, Oximes, Protein Kinase Inhibitors, Proto-Oncogene Proteins B-raf, Pyridones, Pyrimidinones, Sequence Deletion
Added September 10, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
MybA, a transcription factor involved in conidiation and conidial viability of the human pathogen Aspergillus fumigatus.
Valsecchi I, Sarikaya-Bayram Ö, Wong Sak Hoi J, Muszkieta L, Gibbons J, Prevost MC, Mallet A, Krijnse-Locker J, Ibrahim-Granet O, Mouyna I, Carr P, Bromley M, Aimanianda V, Yu JH, Rokas A, Braus GH, Saveanu C, Bayram Ö, Latgé JP
(2017) Mol Microbiol 105: 880-900
MeSH Terms: Aspergillosis, Aspergillus fumigatus, Cell Wall, Fungal Proteins, Gene Deletion, Gene Expression Regulation, Fungal, Humans, Membrane Proteins, Sequence Deletion, Spores, Fungal, Transcription Factors, Virulence
Added March 21, 2018
0 Communities
1 Members
0 Resources
12 MeSH Terms
A common deletion in the haptoglobin gene associated with blood cholesterol levels among Chinese women.
Zheng NS, Bastarache LA, Bastarache JA, Lu Y, Ware LB, Shu XO, Denny JC, Long J
(2017) J Hum Genet 62: 911-914
MeSH Terms: Adult, Aged, Alleles, Asians, Case-Control Studies, Cholesterol, DNA Copy Number Variations, Female, Gene Frequency, Genetic Association Studies, Genotype, Haptoglobins, Humans, Middle Aged, Population Surveillance, Sequence Deletion, Young Adult
Added March 14, 2018
0 Communities
3 Members
0 Resources
17 MeSH Terms
Patterns of Cellular Immunity Associated with Experimental Infection with rDEN2Δ30 (Tonga/74) Support Its Suitability as a Human Dengue Virus Challenge Strain.
Grifoni A, Angelo M, Sidney J, Paul S, Peters B, de Silva AD, Phillips E, Mallal S, Diehl SA, Botten J, Boyson J, Kirkpatrick BD, Whitehead SS, Durbin AP, Sette A, Weiskopf D
(2017) J Virol 91:
MeSH Terms: 3' Untranslated Regions, Antigens, Viral, CD4-Positive T-Lymphocytes, CD8-Positive T-Lymphocytes, Dengue, Dengue Virus, Enzyme-Linked Immunospot Assay, Epitopes, Humans, Interferon-gamma, Sequence Deletion
Added March 30, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
A patient with multisystem dysfunction carries a truncation mutation in human , the gene encoding the Na-K-2Cl cotransporter, NKCC1.
Delpire E, Wolfe L, Flores B, Koumangoye R, Schornak CC, Omer S, Pusey B, Lau C, Markello T, Adams DR
(2016) Cold Spring Harb Mol Case Stud 2: a001289
MeSH Terms: Adolescent, Alleles, Carrier Proteins, Cell Membrane, Chlorides, Female, Fibroblasts, Humans, Mutation, Sequence Deletion, Sodium, Sodium, Dietary, Sodium-Potassium-Chloride Symporters, Solute Carrier Family 12, Member 2, Whole Exome Sequencing
Added April 26, 2017
0 Communities
1 Members
0 Resources
15 MeSH Terms
C-terminal motif of human neuropeptide Y receptor determines internalization and arrestin recruitment.
Wanka L, Babilon S, Burkert K, Mörl K, Gurevich VV, Beck-Sickinger AG
(2017) Cell Signal 29: 233-239
MeSH Terms: Amino Acid Motifs, Amino Acid Sequence, Amino Acids, Animals, COS Cells, Chlorocebus aethiops, Endocytosis, HEK293 Cells, Humans, Mutant Proteins, Receptors, Neuropeptide Y, Reproducibility of Results, Sequence Alignment, Sequence Deletion, Structure-Activity Relationship, beta-Arrestin 2
Added March 14, 2018
0 Communities
1 Members
0 Resources
16 MeSH Terms