Experts and Doctors on mutation in United States

Summary

Locale: United States
Topic: mutation

Top Publications

  1. Blakely C, Watkins T, Wu W, Gini B, Chabon J, McCoach C, et al. Evolution and clinical impact of co-occurring genetic alterations in advanced-stage EGFR-mutant lung cancers. Nat Genet. 2017;49:1693-1704 pubmed publisher
    ..This study calls for revisiting the prevailing single-gene driver-oncogene view and links clinical outcomes to co-occurring genetic alterations in patients with advanced-stage EGFR-mutant lung cancer. ..
  2. Bortolato M, Godar S, Tambaro S, Li F, Devoto P, Coba M, et al. Early postnatal inhibition of serotonin synthesis results in long-term reductions of perseverative behaviors, but not aggression, in MAO A-deficient mice. Neuropharmacology. 2013;75:223-32 pubmed publisher
    ..These results suggest that early developmental enhancements in 5-HT levels have long-term effects on the modulation of behavioral flexibility associated with MAO-A deficiency. ..
  3. DeBolt S, Scheible W, Schrick K, Auer M, Beisson F, Bischoff V, et al. Mutations in UDP-Glucose:sterol glucosyltransferase in Arabidopsis cause transparent testa phenotype and suberization defect in seeds. Plant Physiol. 2009;151:78-87 pubmed publisher
    ..An ancillary observation was that cellulose biosynthesis was unaffected in the double mutant, inconsistent with a predicted role for SGs in priming cellulose synthesis. ..
  4. Huffman J, Lu F, Zalkin H, Brennan R. Role of residue 147 in the gene regulatory function of the Escherichia coli purine repressor. Biochemistry. 2002;41:511-20 pubmed
    ..These structures provide insight into the altered biochemical properties and physiological functions of these mutants, which appear to depend on the sometimes subtle preference for one conformation (apo vs holo) over the other. ..
  5. Marcucci G, Metzeler K, Schwind S, Becker H, Maharry K, Mrozek K, et al. Age-related prognostic impact of different types of DNMT3A mutations in adults with primary cytogenetically normal acute myeloid leukemia. J Clin Oncol. 2012;30:742-50 pubmed publisher
    ..Low accuracy of gene- and microRNA-expression signatures in predicting DNMT3A mutation status suggested that the role of these mutations in AML remains to be elucidated. ..
  6. Chen Y, Molloy S, Thomas L, Gambee J, Bachinger H, Ferguson B, et al. Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. Proc Natl Acad Sci U S A. 2001;98:7218-23 pubmed
  7. Miao E, Alpuche Aranda C, Dors M, Clark A, Bader M, Miller S, et al. Cytoplasmic flagellin activates caspase-1 and secretion of interleukin 1beta via Ipaf. Nat Immunol. 2006;7:569-75 pubmed
  8. Ghoshal K, Datta J, Majumder S, Bai S, Kutay H, Motiwala T, et al. 5-Aza-deoxycytidine induces selective degradation of DNA methyltransferase 1 by a proteasomal pathway that requires the KEN box, bromo-adjacent homology domain, and nuclear localization signal. Mol Cell Biol. 2005;25:4727-41 pubmed
    ..These results demonstrate a unique mechanism for the selective degradation of DNMT1, the maintenance DNA methyltransferase, by well-known DNA-hypomethylating agents. ..
  9. Huang C, Sindic A, Hill C, Hujer K, Chan K, Sassen M, et al. Interaction of the Ca2+-sensing receptor with the inwardly rectifying potassium channels Kir4.1 and Kir4.2 results in inhibition of channel function. Am J Physiol Renal Physiol. 2007;292:F1073-81 pubmed
    ..The CaR interacts directly with Kir4.1 and Kir4.2 and can decrease their currents, which in turn could reduce recycling of K(+) for the basolateral Na(+)-K(+)-ATPase and thereby contribute to inhibition of Na(+) reabsorption. ..
  10. Walston T, Tuskey C, Edgar L, Hawkins N, Ellis G, Bowerman B, et al. Multiple Wnt signaling pathways converge to orient the mitotic spindle in early C. elegans embryos. Dev Cell. 2004;7:831-41 pubmed

Detail Information

Publications62

  1. Blakely C, Watkins T, Wu W, Gini B, Chabon J, McCoach C, et al. Evolution and clinical impact of co-occurring genetic alterations in advanced-stage EGFR-mutant lung cancers. Nat Genet. 2017;49:1693-1704 pubmed publisher
    ..This study calls for revisiting the prevailing single-gene driver-oncogene view and links clinical outcomes to co-occurring genetic alterations in patients with advanced-stage EGFR-mutant lung cancer. ..
  2. Bortolato M, Godar S, Tambaro S, Li F, Devoto P, Coba M, et al. Early postnatal inhibition of serotonin synthesis results in long-term reductions of perseverative behaviors, but not aggression, in MAO A-deficient mice. Neuropharmacology. 2013;75:223-32 pubmed publisher
    ..These results suggest that early developmental enhancements in 5-HT levels have long-term effects on the modulation of behavioral flexibility associated with MAO-A deficiency. ..
  3. DeBolt S, Scheible W, Schrick K, Auer M, Beisson F, Bischoff V, et al. Mutations in UDP-Glucose:sterol glucosyltransferase in Arabidopsis cause transparent testa phenotype and suberization defect in seeds. Plant Physiol. 2009;151:78-87 pubmed publisher
    ..An ancillary observation was that cellulose biosynthesis was unaffected in the double mutant, inconsistent with a predicted role for SGs in priming cellulose synthesis. ..
  4. Huffman J, Lu F, Zalkin H, Brennan R. Role of residue 147 in the gene regulatory function of the Escherichia coli purine repressor. Biochemistry. 2002;41:511-20 pubmed
    ..These structures provide insight into the altered biochemical properties and physiological functions of these mutants, which appear to depend on the sometimes subtle preference for one conformation (apo vs holo) over the other. ..
  5. Marcucci G, Metzeler K, Schwind S, Becker H, Maharry K, Mrozek K, et al. Age-related prognostic impact of different types of DNMT3A mutations in adults with primary cytogenetically normal acute myeloid leukemia. J Clin Oncol. 2012;30:742-50 pubmed publisher
    ..Low accuracy of gene- and microRNA-expression signatures in predicting DNMT3A mutation status suggested that the role of these mutations in AML remains to be elucidated. ..
  6. Chen Y, Molloy S, Thomas L, Gambee J, Bachinger H, Ferguson B, et al. Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. Proc Natl Acad Sci U S A. 2001;98:7218-23 pubmed
  7. Miao E, Alpuche Aranda C, Dors M, Clark A, Bader M, Miller S, et al. Cytoplasmic flagellin activates caspase-1 and secretion of interleukin 1beta via Ipaf. Nat Immunol. 2006;7:569-75 pubmed
  8. Ghoshal K, Datta J, Majumder S, Bai S, Kutay H, Motiwala T, et al. 5-Aza-deoxycytidine induces selective degradation of DNA methyltransferase 1 by a proteasomal pathway that requires the KEN box, bromo-adjacent homology domain, and nuclear localization signal. Mol Cell Biol. 2005;25:4727-41 pubmed
    ..These results demonstrate a unique mechanism for the selective degradation of DNMT1, the maintenance DNA methyltransferase, by well-known DNA-hypomethylating agents. ..
  9. Huang C, Sindic A, Hill C, Hujer K, Chan K, Sassen M, et al. Interaction of the Ca2+-sensing receptor with the inwardly rectifying potassium channels Kir4.1 and Kir4.2 results in inhibition of channel function. Am J Physiol Renal Physiol. 2007;292:F1073-81 pubmed
    ..The CaR interacts directly with Kir4.1 and Kir4.2 and can decrease their currents, which in turn could reduce recycling of K(+) for the basolateral Na(+)-K(+)-ATPase and thereby contribute to inhibition of Na(+) reabsorption. ..
  10. Walston T, Tuskey C, Edgar L, Hawkins N, Ellis G, Bowerman B, et al. Multiple Wnt signaling pathways converge to orient the mitotic spindle in early C. elegans embryos. Dev Cell. 2004;7:831-41 pubmed
  11. Shao Y, Wang I. Bacteriophage adsorption rate and optimal lysis time. Genetics. 2008;180:471-82 pubmed publisher
    ..Competition between high- and low-adsorption strains also showed that, under current conditions and phenotype configurations, the adsorption rate has a much larger impact on phage relative fitness than the lysis time...
  12. Ren Q, Gorovsky M. The nonessential H2A N-terminal tail can function as an essential charge patch on the H2A.Z variant N-terminal tail. Mol Cell Biol. 2003;23:2778-89 pubmed
  13. Sakai W, Swisher E, Jacquemont C, Chandramohan K, Couch F, Langdon S, et al. Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma. Cancer Res. 2009;69:6381-6 pubmed publisher
    ..BRCA2 depletion sensitized BRCA2-restored PEO1 clones and PEO4 to cisplatin/AG14361. Thus, restoration of BRCA2 due to secondary BRCA2 mutation is involved in acquired drug resistance of BRCA2-mutated ovarian carcinoma. ..
  14. Gui C, Hagenbuch B. Role of transmembrane domain 10 for the function of organic anion transporting polypeptide 1B1. Protein Sci. 2009;18:2298-306 pubmed publisher
    ..In conclusion, our results show that TM10 is critical for the function of OATP1B1. ..
  15. Balakrishnan L, Polaczek P, Pokharel S, Campbell J, Bambara R. Dna2 exhibits a unique strand end-dependent helicase function. J Biol Chem. 2010;285:38861-8 pubmed publisher
    ..Biologically, the loading requirement likely helps the helicase to coordinate with the Dna2 nuclease function to prevent creation of undesirably long flaps during DNA transactions. ..
  16. Ramamurthy V, Dapic V, Oliver D. secG and temperature modulate expression of azide-resistant and signal sequence suppressor phenotypes of Escherichia coli secA mutants. J Bacteriol. 1998;180:6419-23 pubmed
    ..These remarkable genetic observations support biochemical data indicating that SecG promotes SecA membrane cycling and that this process is dependent on an endothermic change in SecA conformation. ..
  17. Nana Sinkam S, Powell C. Molecular biology of lung cancer: Diagnosis and management of lung cancer, 3rd ed: American College of Chest Physicians evidence-based clinical practice guidelines. Chest. 2013;143:e30S-e39S pubmed publisher
    ..We focus on research developments in the understanding of lung cancer somatic DNA mutations, chromosomal aberrations, epigenetics, and the tumor microenvironment, and how they can advance diagnostics and therapeutics. ..
  18. Clark D. Molecular and genetic analyses of Drosophila Prat, which encodes the first enzyme of de novo purine biosynthesis. Genetics. 1994;136:547-57 pubmed
  19. Spencer B, Saad J, Shenoy A, Orihuela C, Nahm M. Position of O-Acetylation within the Capsular Repeat Unit Impacts the Biological Properties of Pneumococcal Serotypes 33A and 33F. Infect Immun. 2017;85: pubmed publisher
    ..We conclude that WciG-mediated, but not WcjE-mediated, O-acetylation is important for producing protective capsules in 33A and that small chemical changes to the capsule can drastically affect its biological properties. ..
  20. Goldschen Ohm M, Capes D, Oelstrom K, Chanda B. Multiple pore conformations driven by asynchronous movements of voltage sensors in a eukaryotic sodium channel. Nat Commun. 2013;4:1350 pubmed publisher
    ..These findings shed new light on the mechanism of coupling between activation and fast inactivation in voltage-gated sodium channels...
  21. Krishnan H, Chen M. Identification of an abundant 56 kDa protein implicated in food allergy as granule-bound starch synthase. J Agric Food Chem. 2013;61:5404-9 pubmed publisher
  22. Dyczynska E, Syta E, Sun D, Zolkiewska A. Breast cancer-associated mutations in metalloprotease disintegrin ADAM12 interfere with the intracellular trafficking and processing of the protein. Int J Cancer. 2008;122:2634-40 pubmed publisher
    ..Our results suggest that the breast cancer-associated mutations interfere with the intracellular trafficking of ADAM12 and result in loss of the functional ADAM12 at the cell surface. ..
  23. Acharya B, Raina S, Maqbool S, Jagadeeswaran G, Mosher S, Appel H, et al. Overexpression of CRK13, an Arabidopsis cysteine-rich receptor-like kinase, results in enhanced resistance to Pseudomonas syringae. Plant J. 2007;50:488-99 pubmed
    ..Our studies suggest that upregulation of CRK13 leads to hypersensitive response-associated cell death, and induces defense against pathogens by causing increased accumulation of salicylic acid. ..
  24. Soysa R, Wilson Z, Elferich J, Forquer I, Shinde U, Riscoe M, et al. Substrate inhibition of uracil phosphoribosyltransferase by uracil can account for the uracil growth sensitivity of Leishmania donovani pyrimidine auxotrophs. J Biol Chem. 2013;288:29954-64 pubmed publisher
  25. Casso D, Liu S, Iwaki D, Ogden S, Kornberg T. A screen for modifiers of hedgehog signaling in Drosophila melanogaster identifies swm and mts. Genetics. 2008;178:1399-413 pubmed publisher
    ..Characterization of newly isolated alleles indicates that swm is a negative regulator of Hh signaling and is essential for cell polarity. ..
  26. Book A, Yang P, Scalf M, Smith L, Vierstra R. Tripeptidyl peptidase II. An oligomeric protease complex from Arabidopsis. Plant Physiol. 2005;138:1046-57 pubmed
    ..As a consequence, plants likely contain other intermediate exopeptidases that assist in amino acid recycling. ..
  27. Benson D, Silberbach G, Kavanaugh McHugh A, Cottrill C, Zhang Y, Riggs S, et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest. 1999;104:1567-73 pubmed
    ..The coinheritance of NKX2.5 mutations with various congenital heart defects suggests that this transcription factor contributes to diverse cardiac developmental pathways. ..
  28. Farr G, Ferkey D, Yost C, Pierce S, Weaver C, Kimelman D. Interaction among GSK-3, GBP, axin, and APC in Xenopus axis specification. J Cell Biol. 2000;148:691-702 pubmed
    ..These results contribute to our growing understanding of how GSK-3 regulation in the early embryo leads to regional differences in beta-catenin levels and establishment of the dorsal axis. ..
  29. Lillard J, Fetherston J, Pedersen L, Pendrak M, Perry R. Sequence and genetic analysis of the hemin storage (hms) system of Yersinia pestis. Gene. 1997;193:13-21 pubmed
    ..5 kDa protein with a pI of 6.68. Hms- Y. pestis strain M23-2 transformed with the cloned hmsHFRS locus developed an Hms(c) phenotype (Hms+ at 26-37 degrees C) due to mutations in genes outside the pgm locus...
  30. Moe L, Hu Z, Deng D, Austin R, Groves J, Fox B. Remarkable aliphatic hydroxylation by the diiron enzyme toluene 4-monooxygenase in reactions with radical or cation diagnostic probes norcarane, 1,1-dimethylcyclopropane, and 1,1-diethylcyclopropane. Biochemistry. 2004;43:15688-701 pubmed
    ..The results show a divergence of radical and cation pathways for T4moH-mediated hydroxylation that can be dissected by diagnostic substrate probe rearrangements and by changes in the source of oxygen used for substrate oxygenation...
  31. Qin J, Qian Y, Yao J, Grace C, Li X. SIGIRR inhibits interleukin-1 receptor- and toll-like receptor 4-mediated signaling through different mechanisms. J Biol Chem. 2005;280:25233-41 pubmed
    ..These results indicate that SIGIRR inhibits IL-1 and LPS signaling pathways through differential mechanisms. ..
  32. Bachstetter A, Webster S, Van Eldik L, Cambi F. Clinically relevant intronic splicing enhancer mutation in myelin proteolipid protein leads to progressive microglia and astrocyte activation in white and gray matter regions of the brain. J Neuroinflammation. 2013;10:146 pubmed publisher
  33. Tron T, Yang M, Dick F, Schmitt M, Trumpower B. QSR1, an essential yeast gene with a genetic relationship to a subunit of the mitochondrial cytochrome bc1 complex, is homologous to a gene implicated in eukaryotic cell differentiation. J Biol Chem. 1995;270:9961-70 pubmed
    ..These results indicate a novel genetic relationship between a subunit of the mitochondrial respiratory chain and an essential gene in yeast which is homologous to a gene implicated in differentiation in other eukaryotes. ..
  34. Sorkina T, Richards T, Rao A, Zahniser N, Sorkin A. Negative regulation of dopamine transporter endocytosis by membrane-proximal N-terminal residues. J Neurosci. 2009;29:1361-74 pubmed publisher
    ..Thus, our studies reveal a new link between DAT endocytosis and conformation-dependent uptake activity that represents a novel mode for regulating DAT function. ..
  35. Giebel L, Strunk K, King R, Hanifin J, Spritz R. A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. Proc Natl Acad Sci U S A. 1990;87:3255-8 pubmed
    ..This mutation thus appears to be a frequent cause of tyrosinase-negative oculocutaneous albinism...
  36. Angrist M, Jing S, Bolk S, Bentley K, Nallasamy S, Halushka M, et al. Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility. Genomics. 1998;48:354-62 pubmed
  37. Alagramam K, Murcia C, Kwon H, Pawlowski K, Wright C, Woychik R. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat Genet. 2001;27:99-102 pubmed
    ..Cochlear hair cells in the av mutants show abnormal stereocilia by 10 days after birth (P10). This is the first evidence for the requirement of a protocadherin for normal function of the mammalian inner ear. ..
  38. Machida Y, Machida Y, Vashisht A, Wohlschlegel J, Dutta A. The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1. J Biol Chem. 2009;284:34179-88 pubmed publisher
    ..These results suggest that BAP1 regulates cell proliferation by deubiquitinating HCF-1. ..
  39. Joo J, Correia G, Li J, Lopez M, Baker H, Sugrue S. Transcriptomic analysis of PNN- and ESRP1-regulated alternative pre-mRNA splicing in human corneal epithelial cells. Invest Ophthalmol Vis Sci. 2013;54:697-707 pubmed publisher
    ..Our data suggested that ESRP1 and PNN modulate alternative splicing of a specific subset of target genes, but not general splicing events, in HCET cells to maintain or enhance epithelial characteristics. ..
  40. Stow L, Voren G, Gumz M, Wingo C, Cain B. Dexamethasone stimulates endothelin-1 gene expression in renal collecting duct cells. Steroids. 2012;77:360-6 pubmed publisher
    ..The Edn1 hormone response element contains three important sequence segments. Mutational analysis revealed that one of these segments is particularly important for modulating MR and GR binding to the Edn1 hormone response element. ..
  41. Kaur K, Park H, Pandey N, Azuma Y, De Guzman R. Identification of a new small ubiquitin-like modifier (SUMO)-interacting motif in the E3 ligase PIASy. J Biol Chem. 2017;292:10230-10238 pubmed publisher
    ..Our results provide novel insights into the mechanism of PIASy-mediated SUMOylation. PIASy adds to the growing list of SUMO E3 ligases containing multiple SIMs that play important roles in the E3 ligase activity. ..
  42. Des Etages S, Falvey D, Reece R, Brandriss M. Functional analysis of the PUT3 transcriptional activator of the proline utilization pathway in Saccharomyces cerevisiae. Genetics. 1996;142:1069-82 pubmed
    ..Intragenic suppressors of the central domain mutation have been isolated and analyzed. ..
  43. Sardana R, White J, Johnson A. The rRNA methyltransferase Bud23 shows functional interaction with components of the SSU processome and RNase MRP. RNA. 2013;19:828-40 pubmed publisher
    ..The genetic interaction with the SSU processome suggests that Bud23 could be involved in triggering disassembly of the SSU processome, or of particular subcomplexes of the processome. ..
  44. Guan J, Koch K, Suzuki M, Wu S, Latshaw S, Petruff T, et al. Diverse roles of strigolactone signaling in maize architecture and the uncoupling of a branching-specific subnetwork. Plant Physiol. 2012;160:1303-17 pubmed publisher
    ..Our findings indicate that in maize, uncoupling of the Tb1 subnetwork from SL signaling has profoundly altered the balance between conserved roles of SLs in branching and diverse aspects of plant architecture...
  45. Shippy T, Rogers C, Beeman R, Brown S, Denell R. The Tribolium castaneum ortholog of Sex combs reduced controls dorsal ridge development. Genetics. 2006;174:297-307 pubmed
    ..Thus, we find that specific regions of Cephalothorax are required for discrete steps in dorsal ridge formation. ..
  46. Baer C, Shaw F, Steding C, Baumgartner M, Hawkins A, Houppert A, et al. Comparative evolutionary genetics of spontaneous mutations affecting fitness in rhabditid nematodes. Proc Natl Acad Sci U S A. 2005;102:5785-90 pubmed
  47. Sun W, Jin J, Xu R, Hu W, Szulc Z, Bielawski J, et al. Substrate specificity, membrane topology, and activity regulation of human alkaline ceramidase 2 (ACER2). J Biol Chem. 2010;285:8995-9007 pubmed publisher
  48. Roudaia L, Cheney M, Manuylova E, Chen W, Morrow M, Park S, et al. CBFbeta is critical for AML1-ETO and TEL-AML1 activity. Blood. 2009;113:3070-9 pubmed publisher
    ..Similarly, CBFbeta is essential for TEL-AML1's ability to promote self-renewal of B cell precursors in vitro. These studies validate the Runt domain/CBFbeta interaction as a therapeutic target in core binding factor leukemias. ..
  49. Rangani G, Khodakovskaya M, Alimohammadi M, Hoecker U, Srivastava V. Site-specific methylation in gene coding region underlies transcriptional silencing of the Phytochrome A epiallele in Arabidopsis thaliana. Plant Mol Biol. 2012;79:191-202 pubmed publisher
    ..Further, as the identified site (exon 1) is not critical for the promoter activity, transcription elongation rather than transcription initiation is likely to be affected by this site-specific CG methylation. ..
  50. Asakura Y, Barkan A. A CRM domain protein functions dually in group I and group II intron splicing in land plant chloroplasts. Plant Cell. 2007;19:3864-75 pubmed
    ..With these findings, CRM domain proteins are implicated in the activities of three classes of catalytic RNA: group I introns, group II introns, and 23S rRNA. ..
  51. Oosawa K, Hess J, Simon M. Mutants defective in bacterial chemotaxis show modified protein phosphorylation. Cell. 1988;53:89-96 pubmed
  52. Speiser D, Ortiz D, Kreppel L, Scheel G, McDonald G, Ow D. Purine biosynthetic genes are required for cadmium tolerance in Schizosaccharomyces pombe. Mol Cell Biol. 1992;12:5301-10 pubmed
    ..pombe, and perhaps in other biological systems. ..
  53. Yang C, Angell J, Mitchell R, Ellison D. WNK kinases regulate thiazide-sensitive Na-Cl cotransport. J Clin Invest. 2003;111:1039-45 pubmed
    ..Together, these results identify WNK kinases as a previously unrecognized sodium regulatory pathway of the distal nephron. This pathway likely contributes to normal and pathological blood pressure homeostasis. ..
  54. Lazazzera B, Beinert H, Khoroshilova N, Kennedy M, Kiley P. DNA binding and dimerization of the Fe-S-containing FNR protein from Escherichia coli are regulated by oxygen. J Biol Chem. 1996;271:2762-8 pubmed
    ..Taken together, these observations suggest that oxygen regulates the activity of wild-type FNR through the lability of the Fe-S cluster to oxygen. ..
  55. Hickman J, Barber R, Skaar E, Donohue T. Link between the membrane-bound pyridine nucleotide transhydrogenase and glutathione-dependent processes in Rhodobacter sphaeroides. J Bacteriol. 2002;184:400-9 pubmed
    ..A model will be presented to explain the role of transhydrogenase under aerobic conditions when cells need glutathione both for GSH-FDH activity and to repair oxidatively damaged proteins...
  56. Kapplinger J, Tester D, Salisbury B, Carr J, Harris Kerr C, Pollevick G, et al. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009;6:1297-303 pubmed publisher
    ..Although control population data suggest that the great majority of these mutations are pathogenic, expert interpretation of genetic test results will remain critical for effective clinical use of LQTS genetic test results. ..
  57. Zou H, Yan D, Mohi G. Differential biological activity of disease-associated JAK2 mutants. FEBS Lett. 2011;585:1007-13 pubmed publisher
  58. Moline J, Eng C. Multiple endocrine neoplasia type 2: an overview. Genet Med. 2011;13:755-64 pubmed publisher
    ..This overview summarizes the clinical description of multiple endocrine neoplasia type 2, diagnosis and testing strategies, management and surveillance, and differential diagnosis for other related syndromes...
  59. Davies K, Doebele R. Molecular pathways: ROS1 fusion proteins in cancer. Clin Cancer Res. 2013;19:4040-5 pubmed publisher
    ..This review discusses the recent preclinical and clinical findings on ROS1 gene fusions in cancer. ..
  60. Herman G, Kopacz K, Zhao W, Mills P, Metzenberg A, Das S. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002;19:114-21 pubmed
    ..Clinical information collected on the majority of patients helps to further correlate genotype with phenotype, and implications of these data for genetic counseling in families are discussed. ..
  61. Jin X, Wang J, Gao K, Zhang P, Yao L, Tang Y, et al. Dysregulation of INF2-mediated mitochondrial fission in SPOP-mutated prostate cancer. PLoS Genet. 2017;13:e1006748 pubmed publisher
  62. Alcantara D, Timms A, Gripp K, Baker L, Park K, Collins S, et al. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain. 2017;140:2610-2622 pubmed publisher