Experts and Doctors on mutation in Cincinnati, Ohio, United States

Summary

Locale: Cincinnati, Ohio, United States
Topic: mutation

Top Publications

  1. Strader A, Reizes O, Woods S, Benoit S, Seeley R. Mice lacking the syndecan-3 gene are resistant to diet-induced obesity. J Clin Invest. 2004;114:1354-60 pubmed
    ..The data implicate syndecan-3 in the regulation of body weight and suggest that inhibition of syndecan-3 may provide a therapeutic approach for the treatment of obesity resulting from exposure to high-fat diets. ..
  2. Guan M, Yan Q, Li X, Bykhovskaya Y, Gallo Teran J, Hajek P, et al. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet. 2006;79:291-302 pubmed
    ..These findings indicate that the mutated TRMU, acting as a modifier factor, modulates the phenotypic manifestation of the deafness-associated 12S rRNA mutations. ..
  3. Song S, Dey D, Holsinger K. Genetic diversity of microsatellite loci in hierarchically structured populations. Theor Popul Biol. 2011;80:29-37 pubmed publisher
  4. Bu W, Mamedova A, Tan M, Xia M, Jiang X, Hegde R. Structural basis for the receptor binding specificity of Norwalk virus. J Virol. 2008;82:5340-7 pubmed publisher
    ..The A-trisaccharide binding mode seen in the NV P domain complex cannot be sterically accommodated in the VA387 P domain. ..
  5. Davis J, Davis L, Correll R, Makarewich C, Schwanekamp J, Moussavi Harami F, et al. A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy. Cell. 2016;165:1147-1159 pubmed publisher
    ..This tension-based model also has the potential to inform pharmacologic treatment options in cardiomyopathy patients. ..
  6. Haghighi K, Gregory K, Kranias E. Sarcoplasmic reticulum Ca-ATPase-phospholamban interactions and dilated cardiomyopathy. Biochem Biophys Res Commun. 2004;322:1214-22 pubmed
    ..Finally, we will discuss extrapolation of experimental paradigms generated in animal models to the human condition. ..
  7. Qian Y, Guan M. Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation. Antimicrob Agents Chemother. 2009;53:4612-8 pubmed publisher
    ..The interaction between aminoglycosides and 12S rRNA carrying the A1555G mutation provides new insight into the pathogenesis of aminoglycoside ototoxicity. ..
  8. Liu X, Yagi H, Saeed S, Bais A, Gabriel G, Chen Z, et al. The complex genetics of hypoplastic left heart syndrome. Nat Genet. 2017;49:1152-1159 pubmed publisher
    ..These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD. ..
  9. Dixon B, Lu L, Chu A, Bissler J. RecQ and RecG helicases have distinct roles in maintaining the stability of polypurine.polypyrimidine sequences. Mutat Res. 2008;643:20-8 pubmed publisher
    ..Py tract containing multiple mirror repeats. These results support a two-tiered model where RecQ facilitates fork progression through triplex-forming tracts and, failing processivity, RecG is critical for replication fork restart. ..

More Information

Publications285 found, 100 shown here

  1. Langland G, Kordich J, Creaney J, Goss K, Lillard Wetherell K, Bebenek K, et al. The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair. J Biol Chem. 2001;276:30031-5 pubmed
    ..Cell extracts deficient in BLM were competent for DNA mismatch repair. These data suggest that the BLM helicase and MLH1 function together in replication, recombination, or DNA repair events independent of single base mismatch repair. ..
  2. Kimura E, Nikiforova M, Zhu Z, Knauf J, Nikiforov Y, Fagin J. High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res. 2003;63:1454-7 pubmed
    ..Because these signaling proteins function along the same pathway in thyroid cells, this represents a unique paradigm of human tumorigenesis through mutation of three signaling effectors lying in tandem. ..
  3. Dixon B, Hulbert J, Bissler J. Tuberous sclerosis complex renal disease. Nephron Exp Nephrol. 2011;118:e15-20 pubmed publisher
    ..This review specifically addresses some of the major renal manifestations of this disease. ..
  4. Marsh R, Bleesing J, Filipovich A. Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency. J Immunol Methods. 2010;362:1-9 pubmed publisher
    ..This review will give a brief overview of the clinical manifestations and molecular basis of SAP deficiency and XIAP deficiency, and will focus on the use of flow cytometry for diagnosis of XLP. ..
  5. Haghighi K, Kolokathis F, Gramolini A, Waggoner J, Pater L, Lynch R, et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc Natl Acad Sci U S A. 2006;103:1388-93 pubmed
    ..Thus, by chronic suppression of sarcoplasmic reticulum Ca(2+)-ATPase activity, the nonreversible superinhibitory function of mutant PLN-R14Del may lead to inherited dilated cardiomyopathy and premature death in both humans and mice. ..
  6. Li H, Collier J, Shawki A, Rudra J, Li E, Mackenzie B, et al. Sequence- or position-specific mutations in the carboxyl-terminal FL motif of the kidney sodium bicarbonate cotransporter (NBC1) disrupt its basolateral targeting and alpha-helical structure. J Membr Biol. 2009;228:111-24 pubmed publisher
  7. Martherus R, Jain R, Takagi K, Mendsaikhan U, Turdi S, Osinska H, et al. Accelerated cardiac remodeling in desmoplakin transgenic mice in response to endurance exercise is associated with perturbed Wnt/β-catenin signaling. Am J Physiol Heart Circ Physiol. 2016;310:H174-87 pubmed publisher
    ..Our study suggests a potential mechanism-based approach to exercise management in patients with AVC. ..
  8. Chun T, Epstein M, Dick M, Andelfinger G, Ballester L, Vanoye C, et al. Polymorphic ventricular tachycardia and KCNJ2 mutations. Heart Rhythm. 2004;1:235-41 pubmed
    ..Arrhythmia documented during cardiac arrest is rapid ventricular tachycardia; ICD is effective therapy for cardiac arrest in patients with PVT due to KCNJ2 mutation. ..
  9. Misra A, Sheikh A, Kumar A, Luo J, Zhang J, Hinton R, et al. Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis. J Exp Med. 2016;213:451-63 pubmed publisher
    ..Thus, integrin β3-mediated signaling in SMCs links elastin deficiency and pathological stenosis, and inhibiting this pathway is an attractive therapeutic strategy for SVAS. ..
  10. Beck D, Ikegami M, Na C, Zaltash S, Johansson J, Whitsett J, et al. The role of homodimers in surfactant protein B function in vivo. J Biol Chem. 2000;275:3365-70 pubmed
    ..Taken together, these data indicate a role for SP-B dimer in surface tension reduction in the alveolus. ..
  11. Zhang M, Smith E, Kuroda H, Banach W, Chernausek S, Fagin J. Targeted expression of a protease-resistant IGFBP-4 mutant in smooth muscle of transgenic mice results in IGFBP-4 stabilization and smooth muscle hypotrophy. J Biol Chem. 2002;277:21285-90 pubmed
    ..Thus, IGFBP-4.7A results in greater growth inhibition than equivalent levels of native IGFBP-4 in vivo, demonstrating a role for IGFBP-4 proteolysis in the regulation of IGF-I action. ..
  12. Zhang J, Zhang D, McQuade J, Behbehani M, Tsien J, Xu M. c-fos regulates neuronal excitability and survival. Nat Genet. 2002;30:416-20 pubmed
    ..Our results suggest that c-fos is a genetic regulator for cellular mechanisms mediating neuronal excitability and survival. ..
  13. Bridges J, Xu Y, Na C, Wong H, Weaver T. Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C. J Cell Biol. 2006;172:395-407 pubmed
    ..The wide variability in the age of onset of ILD in patients with SFTPC mutations may be related to environmental insults that ultimately overwhelm the homeostatic cytoprotective response. ..
  14. Shang X, Moon S, Zheng Y. p200 RhoGAP promotes cell proliferation by mediating cross-talk between Ras and Rho signaling pathways. J Biol Chem. 2007;282:8801-11 pubmed
  15. Repaske D, Medlej R, Gultekin E, Krishnamani M, Halaby G, Findling J, et al. Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-->Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor. J Clin Endocrinol Metab. 1997;82:51-6 pubmed
  16. Thompson R, Sawtell N. The herpes simplex virus type 1 latency associated transcript locus is required for the maintenance of reactivation competent latent infections. J Neurovirol. 2011;17:552-8 pubmed publisher
    ..Here, we report that the latency associated transcript locus of HSV-1 is required for long-term maintenance of reactivation competent latent infections. ..
  17. Kothiyal P, Cox S, Ebert J, Husami A, Kenna M, Greinwald J, et al. High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. BMC Biotechnol. 2010;10:10 pubmed publisher
  18. Samson C, Jurickova I, Molden E, Schreiner W, Colliver J, Bonkowski E, et al. Granulocyte-macrophage colony stimulating factor blockade promotes ccr9(+) lymphocyte expansion in Nod2 deficient mice. Inflamm Bowel Dis. 2011;17:2443-55 pubmed publisher
    ..GM-CSF prevents ileal expansion of CCR9(+) lymphocytes via Nod2-dependent and independent pathways. CCR9 blockade may be beneficial in CD patients with elevated GM-CSF Ab. ..
  19. Jing H, Zhang Q, Zhang Y, Hill B, Dove C, Gelfand E, et al. Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype. J Allergy Clin Immunol. 2014;133:1667-75 pubmed publisher
    ..These observations support the concept that some DOCK8-immunodeficient patients have mutable mosaic genomes that can modulate disease phenotype over time. ..
  20. Wenstrup R, Florer J, Willing M, Giunta C, Steinmann B, Young F, et al. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am J Hum Genet. 2000;66:1766-76 pubmed
    ..These findings indicate that the normal formation of the heterotypic collagen fibrils that contain types I, III, and V collagen requires the expression of both COL5A1 alleles. ..
  21. Young L, Nogee L, Barnett B, Panos R, Colby T, Deutsch G. Usual interstitial pneumonia in an adolescent with ABCA3 mutations. Chest. 2008;134:192-5 pubmed publisher
  22. Wang X, Yan Q, Guan M. Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration. J Mol Biol. 2010;395:1038-48 pubmed publisher
    ..Therefore, our findings demonstrated a critical role of modifications at U(34) of tRNA(Lys), tRNA(Glu), and tRNA(Gln) in maintenance of mitochondrial genome, mitochondrial RNA stability, translation, and respiratory function. ..
  23. Liu J, Guo S, Cinier M, Shlyakhtenko L, Shu Y, Chen C, et al. Fabrication of stable and RNase-resistant RNA nanoparticles active in gearing the nanomotors for viral DNA packaging. ACS Nano. 2011;5:237-46 pubmed publisher
    ..Our results demonstrate that it is practical to produce RNase-resistant, biologically active, and stable RNA for application in nanotechnology. ..
  24. Gu Y, Runyan C, Shoemaker A, Surani M, Wylie C. Membrane-bound steel factor maintains a high local concentration for mouse primordial germ cell motility, and defines the region of their migration. PLoS ONE. 2011;6:e25984 pubmed publisher
    ..Escape from this niche causes cessation of motility and death by apoptosis of the ectopic germ cells. ..
  25. Glueck C, Freiberg R, Boriel G, Khan Z, Brar A, Padda J, et al. The role of the factor V Leiden mutation in osteonecrosis of the hip. Clin Appl Thromb Hemost. 2013;19:499-503 pubmed publisher
    ..01, 95% CI 1.09 to 23.0. Prothrombin gene heterozygosity in normal controls (2.9%) did not differ from ON cases (3.4%), P = 1.0. The thrombophilic FVL mutation is commonly associated with and may be pathoetiologic for hip osteonecrosis. ..
  26. Nichols W, Pankratz N, Marek D, Pauciulo M, Elsaesser V, Halter C, et al. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology. 2009;72:310-6 pubmed publisher
    ..This study suggests that GBA is a susceptibility gene for familial Parkinson disease (PD) and patients with GBA variants have an earlier age at onset than patients with PD without GBA variants. ..
  27. Stropes M, Miller W. Functional analysis of human cytomegalovirus pUS28 mutants in infected cells. J Gen Virol. 2008;89:97-105 pubmed publisher
    ..Elucidating the mechanisms by which pUS28 signals during infection will provide important insights into HCMV pathogenesis...
  28. Noffsinger A, Hart J. Serrated adenoma: a distinct form of non-polypoid colorectal neoplasia?. Gastrointest Endosc Clin N Am. 2010;20:543-63 pubmed publisher
    ..The morphologic features of serrated colorectal lesions, the molecular alterations that characterize them, and their role in colorectal cancer development are discussed...
  29. Zhang L, Deng M, Parthasarathy R, Wang L, Mongan M, Molkentin J, et al. MEKK1 transduces activin signals in keratinocytes to induce actin stress fiber formation and migration. Mol Cell Biol. 2005;25:60-5 pubmed
    ..Together, these pathways lead to the control of actin cytoskeleton reorganization and epithelial cell migration, contributing to the physiologic and pathological effects of activins on epithelial morphogenesis. ..
  30. Glueck C, Pranikoff J, Aregawi D, Haque M, Zhu B, Tracy T, et al. The factor V Leiden mutation, high factor VIII, and high plasminogen activator inhibitor activity: etiologies for sporadic miscarriage. Metabolism. 2005;54:1345-9 pubmed
    ..05) in measures of thrombophilia and hypofibrinolysis. After unexplained sporadic first trimester miscarriage, we suggest that measurements be done of the FV mutation, PAI-Fx, and factor VIII, etiologies for sporadic miscarriage. ..
  31. Glueck C, Gogenini S, Munjal J, Tracy T, Pranikoff J, Wang P. Factor V Leiden mutation: a treatable etiology for sporadic and recurrent pregnancy loss. Fertil Steril. 2008;89:410-6 pubmed
  32. Hufnagel R, Ahmed Z, Correa Z, Sisk R. Gene therapy for Leber congenital amaurosis: advances and future directions. Graefes Arch Clin Exp Ophthalmol. 2012;250:1117-28 pubmed publisher
    ..Future studies measuring potential improvement in photoreceptor function may rely on recent advances in retinal imaging and electrophysiologic testing. ..
  33. Broering T, Alavattam K, Sadreyev R, Ichijima Y, Kato Y, Hasegawa K, et al. BRCA1 establishes DNA damage signaling and pericentric heterochromatin of the X chromosome in male meiosis. J Cell Biol. 2014;205:663-75 pubmed publisher
    ..We infer that the major meiotic role of BRCA1 is to promote the dramatic chromatin changes required for formation and function of the XY body. ..
  34. Prabdial Sing N, Blackard J, Puren A, Mahomed A, Abuelhassan W, Mahlangu J, et al. Naturally occurring resistance mutations within the core and NS5B regions in hepatitis C genotypes, particularly genotype 5a, in South Africa. Antiviral Res. 2016;127:90-8 pubmed publisher
    ..This study provides new insight into one of the lesser studied HCV genotypes and compares the diversity seen in a large pre-treatment cohort with other subtypes. ..
  35. Giefer M, Lowe M, Werlin S, Zimmerman B, Wilschanski M, Troendle D, et al. Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations. J Pediatr. 2017;186:95-100 pubmed publisher
    ..Future studies are needed to investigate whether the disease course, response to therapy, or clinical outcomes differ relative to the timing of disease onset. ..
  36. Scott M, Wakamatsu K, Ito S, Kadekaro A, Kobayashi N, Groden J, et al. Human melanocortin 1 receptor variants, receptor function and melanocyte response to UV radiation. J Cell Sci. 2002;115:2349-55 pubmed
    ..We conclude that loss-of-function mutations in the MC1R gene sensitize human melanocytes to the DNA damaging effects of UV radiation, which may increase skin cancer risk. ..
  37. Belecky Adams T, Holmes M, Shan Y, Tedesco C, Mascari C, Kaul A, et al. An intact intermediate filament network is required for collateral sprouting of small diameter nerve fibers. J Neurosci. 2003;23:9312-9 pubmed
  38. Rayapureddi J, Kattamuri C, Steinmetz B, Frankfort B, Ostrin E, Mardon G, et al. Eyes absent represents a class of protein tyrosine phosphatases. Nature. 2003;426:295-8 pubmed
    ..Furthermore, the phosphatase activity of Eyes absent contributes to its ability to induce eye formation in Drosophila. ..
  39. Fagin J. How thyroid tumors start and why it matters: kinase mutants as targets for solid cancer pharmacotherapy. J Endocrinol. 2004;183:249-56 pubmed
    ..We have a fairly good understanding of the genetic changes involved in thyroid cancer initiation, and hence these cancers may prove to be particularly well suited for oncoprotein-specific therapies. ..
  40. Tao Q, Lloyd B, Lang S, Houston D, Zorn A, Wylie C. A novel G protein-coupled receptor, related to GPR4, is required for assembly of the cortical actin skeleton in early Xenopus embryos. Development. 2005;132:2825-36 pubmed
  41. Wenstrup R, Florer J, Davidson J, Phillips C, Pfeiffer B, Menezes D, et al. Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. J Biol Chem. 2006;281:12888-95 pubmed
    ..Therefore, abnormal fibril nucleation and dysfunctional fibril growth with potential disruption of cell-directed fibril organization leads to the connective tissue dysfunction associated with EDS. ..
  42. Wani M, Wert S, Lingrel J. Lung Kruppel-like factor, a zinc finger transcription factor, is essential for normal lung development. J Biol Chem. 1999;274:21180-5 pubmed
    ..These studies show that LKLF plays an important role in normal lung development. ..
  43. Stringer J, Larson J, Fischer J, Stringer S. Increased mutation in mice genetically predisposed to oxidative damage in the brain. Mutat Res. 2004;556:127-34 pubmed
    ..PLAP+ cells were observed in all areas of the brain. No increase in the number of PLAP+ cells was seen in three other tissues, suggesting that the effect of Aif deficiency on mutation was specific to brain. ..
  44. Yutzey K, Robbins J. Principles of genetic murine models for cardiac disease. Circulation. 2007;115:792-9 pubmed
  45. Kamath Rayne B, Saal H, Lang S, Habli M. Recurrent severe oligohydramnios and fetal pulmonary hypoplasia associated with ErbB4 mutation. Obstet Gynecol. 2013;121:499-501 pubmed publisher
    ..Examination of the placenta with that pregnancy showed decreased vascularity. ErbB4 may have important effects on placental development and hydramnios that also may affect neonatal pulmonary hypoplasia. ..
  46. Rynkiewicz M, Wu H, Cafarella T, Nikolaidis N, Head J, Seaton B, et al. Differential Ligand Binding Specificities of the Pulmonary Collectins Are Determined by the Conformational Freedom of a Surface Loop. Biochemistry. 2017;56:4095-4105 pubmed publisher
    ..These studies suggest that flexibility in a key surface loop supports the distinctive lipid binding functions of SP-A, thus contributing to its multiple functions in surfactant structure and regulation, and host defense. ..
  47. Zhang L, Ikegami M, Crouch E, Korfhagen T, Whitsett J. Activity of pulmonary surfactant protein-D (SP-D) in vivo is dependent on oligomeric structure. J Biol Chem. 2001;276:19214-9 pubmed
    ..Disulfide cross-linked SP-D oligomers are required for the regulation of surfactant phospholipid homeostasis and the prevention of emphysema and foamy macrophages in vivo. ..
  48. Dostanic I, Lorenz J, Schultz J, Grupp I, Neumann J, Wani M, et al. The alpha2 isoform of Na,K-ATPase mediates ouabain-induced cardiac inotropy in mice. J Biol Chem. 2003;278:53026-34 pubmed
    ..These results clearly demonstrate that the Na,K-ATPase and specifically the alpha2 Na,K-ATPase isozyme mediates ouabain-induced cardiac contractility in mice. ..
  49. Jagatheesan G, Rajan S, Petrashevskaya N, Schwartz A, Boivin G, Arteaga G, et al. Rescue of tropomyosin-induced familial hypertrophic cardiomyopathy mice by transgenesis. Am J Physiol Heart Circ Physiol. 2007;293:H949-58 pubmed
    ..These results demonstrate that alterations in calcium response by modification of contractile proteins can prevent the pathological and physiological effects of this disease. ..
  50. Lee S, Sumegi J, Villanueva J, Tabata Y, Zhang K, Chakraborty R, et al. Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. J Pediatr. 2006;149:134-7 pubmed
    ..Extent of haplotype sharing and variability of microsatellite alleles in 50delT-PRF1 chromosomes suggest that this mutation arose approximately 1000 to 4000 years ago and is restricted to patients of African descent. ..
  51. Reeder N, Ganz P, Carlson J, Saunders C. Isolation of a deet-insensitive mutant of Drosophila melanogaster (Diptera: Drosophilidae). J Econ Entomol. 2001;94:1584-8 pubmed
    ..The mutant was repelled by other repellents, benzaldehyde and citronellal. The mutation was recessive and located on the X chromosome...
  52. Waclaw R, Wang B, Campbell K. The homeobox gene Gsh2 is required for retinoid production in the embryonic mouse telencephalon. Development. 2004;131:4013-20 pubmed
    ..Thus, in addition to the previously described role for Gsh2 to maintain correct molecular identity in the LGE, our results demonstrate a novel requirement of this gene for retinoid production within the ventral telencephalon. ..
  53. Han C, Yan D, Belenkaya T, Lin X. Drosophila glypicans Dally and Dally-like shape the extracellular Wingless morphogen gradient in the wing disc. Development. 2005;132:667-79 pubmed
    ..We propose that Wg establishes its concentration gradient by a restricted diffusion mechanism involving Dally and Dlp in the wing disc. ..
  54. Galloway E, Shin T, Huber N, Eismann T, Kuboki S, Schuster R, et al. Activation of hepatocytes by extracellular heat shock protein 72. Am J Physiol Cell Physiol. 2008;295:C514-20 pubmed publisher
    ..The fact that eHSP-72 did not increase TNF-alpha or IL-6 production may be indicative of a highly regulated signaling pathway downstream from TLR. ..
  55. Schock E, Brugmann S. Neural crest cells utilize primary cilia to regulate ventral forebrain morphogenesis via Hedgehog-dependent regulation of oriented cell division. Dev Biol. 2017;431:168-178 pubmed publisher
    ..Together, these data suggest a novel, cilia-dependent mechanism for NCCs during forebrain development. ..
  56. Wang X, Klevitsky R, Huang W, Glasford J, Li F, Robbins J. AlphaB-crystallin modulates protein aggregation of abnormal desmin. Circ Res. 2003;93:998-1005 pubmed
    ..Significantly less aberrant desmin aggregation was observed in the WT-CryAB-overexpressing cells than in the HEK cells. The results suggest that CryAB modulates abnormal desmin aggregation and can serve a cardioprotective role. ..
  57. Chaney B, Clark Baldwin K, Dave V, Ma J, Rance M. Solution structure of the K50 class homeodomain PITX2 bound to DNA and implications for mutations that cause Rieger syndrome. Biochemistry. 2005;44:7497-511 pubmed
    ..Overall, the role of K50 in homeodomain recognition is further clarified, and the results indicate that native K50 homeodomains may exhibit differences from altered specificity mutants. ..
  58. Knauf J, Ma X, Smith E, Zhang L, Mitsutake N, Liao X, et al. Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation. Cancer Res. 2005;65:4238-45 pubmed
    ..This closely recapitulates the phenotype of BRAF-positive PTCs in humans and supports a key role for this oncogene in its pathogenesis. ..
  59. Ali A, Kirby M, Jansen M, Lach F, Schulte J, Singh T, et al. Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. Hum Mutat. 2009;30:E761-70 pubmed publisher
    ..We identified bi-allelic novel mutations in the FANCL gene and functionally characterized them. To the best of our knowledge, this is the second reported case belonging to the FA-L complementation group. ..
  60. Wang M, Bridges J, Na C, Xu Y, Weaver T. Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C. J Biol Chem. 2009;284:33377-83 pubmed publisher
    ..These results support a model in which MKS3 links the ER lumenal quality control machinery with the cytosolic degradation apparatus. ..
  61. Bedard J, Haaning A, Ware S. Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease. PLoS ONE. 2011;6:e23755 pubmed publisher
    ..Screening 109 familial and sporadic male heterotaxy cases did not identify pathogenic mutations in the newly identified fourth exon and larger studies are necessary to establish the importance of the novel isoform in human disease. ..
  62. Loper J. Cytochrome P450 lanosterol 14?-demethylase (CYP51): insights from molecular genetic analysis of the ERG11 gene in Saccharomyces cerevisiae. J Steroid Biochem Mol Biol. 1992;43:1107-16 pubmed publisher
    ..cerevisiae in the further characterization of structure function relationships among sterol 14?-demethylases. ..
  63. Grogan D, Carver G, Drake J. Genetic fidelity under harsh conditions: analysis of spontaneous mutation in the thermoacidophilic archaeon Sulfolobus acidocaldarius. Proc Natl Acad Sci U S A. 2001;98:7928-33 pubmed
    ..It suggests, however, that molecular evolution per genome replication may proceed more slowly in S. acidocaldarius than in other DNA-based organisms examined to date. ..
  64. Zhao Y, Potter S. Functional specificity of the Hoxa13 homeobox. Development. 2001;128:3197-207 pubmed
    ..This work identifies candidate downstream targets of the Hoxa13 gene and demonstrates that even contiguous Abd-B homeoboxes have functional specificity. ..
  65. Gardner A, Helmick R, Gardner P. Flavorubredoxin, an inducible catalyst for nitric oxide reduction and detoxification in Escherichia coli. J Biol Chem. 2002;277:8172-7 pubmed
    ..coli, respectively, whereas both enzymes scavenged NO under microaerobic conditions. We suggest designation of the ygaA-ygaK-ygbD gene cluster as the norRVW modulon for NO reduction and detoxification. ..
  66. Zhang X, Sejas D, Qiu Y, Williams D, Pang Q. Inflammatory ROS promote and cooperate with the Fanconi anemia mutation for hematopoietic senescence. J Cell Sci. 2007;120:1572-83 pubmed
    ..These results indicate an intimate link between inflammatory reactive oxygen species and DNA-damage-induced premature senescence in HSCs and progenitor cells, which may play an important role in aging and anemia. ..
  67. Beery T, Williams J. Risk reduction and health promotion behaviors following genetic testing for adult-onset disorders. Genet Test. 2007;11:111-23 pubmed
    ..Insights gleaned from this review are discussed as a basis for planning monitoring of health promotion and risk-reduction behaviors for genetic testing for present and future use. ..
  68. Benson D. Genetic origins of pediatric heart disease. Pediatr Cardiol. 2010;31:422-9 pubmed publisher
    ..5, illustrate these accomplishments and at the same time provide a forecast of the nature of future genetic studies to better understand the origins of pediatric heart disease. ..
  69. Melendez J, Grogg M, Zheng Y. Signaling role of Cdc42 in regulating mammalian physiology. J Biol Chem. 2011;286:2375-81 pubmed publisher
    ..Recent studies by conditional gene targeting of cdc42 in mice have revealed its tissue- and cell type-specific role and provide definitive information of the physiological signaling functions of Cdc42 in vivo. ..
  70. Zhu X, He F, Zeng H, Ling S, Chen A, Wang Y, et al. Identification of functional cooperative mutations of SETD2 in human acute leukemia. Nat Genet. 2014;46:287-93 pubmed publisher
    ..Therefore, our study provides compelling evidence for SETD2 as a new tumor suppressor. Disruption of the SETD2-H3K36me3 pathway is a distinct epigenetic mechanism for leukemia development. ..
  71. Peace B, Hill K, Degen S, Waltz S. Cross-talk between the receptor tyrosine kinases Ron and epidermal growth factor receptor. Exp Cell Res. 2003;289:317-25 pubmed
    ..This novel finding of a functional and biochemical interaction between Ron and EGFR suggests that heterologous tyrosine kinase receptor interactions may play a role in cellular processes such as scatter and transformation. ..
  72. Risinger M, Groden J. Crosslinks and crosstalk: human cancer syndromes and DNA repair defects. Cancer Cell. 2004;6:539-45 pubmed
    ..This review focuses on the human genes MUTYH, BRCA2/FANCD1, and BLM. ..
  73. Clancy J, Rowe S, Accurso F, Aitken M, Amin R, Ashlock M, et al. Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Thorax. 2012;67:12-8 pubmed publisher
    ..Additional data are needed to determine how improvements detected in CFTR function secondary to VX-809 in the sweat gland relate to those measurable in the respiratory tract and to long-term measures of clinical benefit. NCT00865904. ..
  74. McMillin M, Beck A, Chong J, Shively K, Buckingham K, Gildersleeve H, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet. 2014;94:734-44 pubmed publisher
    ..0001). Collectively, although GS, DA5, and MWS have traditionally been considered separate disorders, our findings indicate that they are etiologically related and perhaps represent variable expressivity of the same condition. ..
  75. Bostwick B, McLean S, Posey J, Streff H, Gripp K, Blesson A, et al. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017;9:73 pubmed publisher
    ..Here we provide detailed phenotypic and molecular characterisation of individuals with pathogenic variants in CDK13 and propose management guidelines based upon the estimated prevalence of anomalies identified. ..
  76. Goss K, Risinger M, Kordich J, Sanz M, Straughen J, Slovek L, et al. Enhanced tumor formation in mice heterozygous for Blm mutation. Science. 2002;297:2051-3 pubmed
    ..These observations indicate that Blm is a modifier of tumor formation in the mouse and that Blm haploinsufficiency is associated with tumor predisposition, a finding with important implications for cancer risk in humans. ..
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