Genomes and Genes
Experts and Doctors on mutation in Chicago, Illinois, United States
Locale: Chicago, Illinois, United States
Publications361 found, 100 shown here
- Tsai L, Ku T, Salib N, Crowe D. Extracellular signals regulate rapid coactivator recruitment at AP-1 sites by altered phosphorylation of both CREB binding protein and c-jun. Mol Cell Biol. 2008;28:4240-50 pubmed publisher..We also demonstrated novel interactions between coactivators and AP-1 proteins. We propose that extracellular signal-mediated coactivator exchange at AP-1 sites is mediated via protein kinase pathways. ..
- Manna D, Bhardwaj N, Vora M, Stahelin R, Lu H, Cho W. Differential roles of phosphatidylserine, PtdIns(4,5)P2, and PtdIns(3,4,5)P3 in plasma membrane targeting of C2 domains. Molecular dynamics simulation, membrane binding, and cell translocation studies of the PKCalpha C2 domain. J Biol Chem. 2008;283:26047-58 pubmed publisher..These studies also suggest that effective PM recruitment of many cellular proteins may require synergistic actions of PS and phosphoinositides. ..
- Aldinger K, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, et al. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Am J Med Genet A. 2013;161A:131-6 pubmed publisher..Future studies of these genes may elucidate their relationship to 22q13.3 deletion phenotypes. ..
- Boyden L, Vincent N, Zhou J, Hu R, Craiglow B, Bayliss S, et al. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. Am J Hum Genet. 2017;100:978-984 pubmed publisher..Systemic isotretinoin therapy has achieved nearly complete resolution in the two probands in whom it has been applied, consistent with the effects of retinoic acid on alternative pathways for ceramide generation. ..
- Gu J, Chukhman M, Lu Y, Liu C, Liu S, Lu H. RNA-seq Based Transcription Characterization of Fusion Breakpoints as a Potential Estimator for Its Oncogenic Potential. Biomed Res Int. 2017;2017:9829175 pubmed publisher..The preliminary results suggest that the internal fusion clone ratio might potentially advantage current fusion mutation oncogenic potential prediction methods...
- Zhu X, Rebello J, Matsumura P, Volz K. Crystal structures of CheY mutants Y106W and T87I/Y106W. CheY activation correlates with movement of residue 106. J Biol Chem. 1997;272:5000-6 pubmed..Specifically, CheY's signaling ability correlates with the conformational heterogeneity of the Tyr106 side chain. Our data also suggest that these mutations affect the signal at an event subsequent to phosphorylation...
- Byun Y, Chen F, Chang R, Trivedi M, Green K, Cryns V. Caspase cleavage of vimentin disrupts intermediate filaments and promotes apoptosis. Cell Death Differ. 2001;8:443-50 pubmed..Taken together, our findings suggest that caspase proteolysis of vimentin promotes apoptosis by dismantling intermediate filaments and by amplifying the cell death signal via a pro-apoptotic cleavage product. ..
- Lin W, Harding H, Ron D, Popko B. Endoplasmic reticulum stress modulates the response of myelinating oligodendrocytes to the immune cytokine interferon-gamma. J Cell Biol. 2005;169:603-12 pubmed..Therefore, the hypersensitivity of PERK+/- mice to IFN-gamma implicates ER stress in demyelinating disorders that are induced by CNS inflammation. ..
- Riordan K, Sorg J, Berube B, Schneewind O. Impassable YscP substrates and their impact on the Yersinia enterocolitica type III secretion pathway. J Bacteriol. 2008;190:6204-16 pubmed publisher..YscP-GST copurified with the type III ATPase complex (YscN, YscL, and YscQ) and with YscO, suggesting that the association of specific machine components with the impassable substrate may cause the block in type III secretion...
- Bond A, Vangompel M, Sametsky E, Clark M, Savage J, Disterhoft J, et al. Balanced gene regulation by an embryonic brain ncRNA is critical for adult hippocampal GABA circuitry. Nat Neurosci. 2009;12:1020-7 pubmed publisher..These results suggest that noncoding RNA-dependent balanced gene regulation in embryonic brain is critical for proper formation of GABA-dependent neuronal circuitry in adult brain. ..
- Weiss R, Dumitrescu A, Refetoff S. Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab. 2010;95:3094-102 pubmed publisher..If the TRbeta mutation is known in the mother, the fetus can be rapidly genotyped from DNA from amniocentesis for the same mutation, and then management decisions could be made regarding thyroid or antithyroid hormone treatment...
- Young N, Liu J, Pierce C, Wei T, Grushko T, Olopade O, et al. Molecular phenotype predicts sensitivity of squamous cell carcinoma of the head and neck to epidermal growth factor receptor inhibition. Mol Oncol. 2013;7:359-68 pubmed publisher..Taken together this suggests that constitutively active AKT is a mechanism of intrinsic gefitinib resistance in SCCHN. This resistance can be overcome through targeting of the PI3K/AKT pathway in combination with EGFR inhibition. ..
- Hack A, Groh M, McNally E. Sarcoglycans in muscular dystrophy. Microsc Res Tech. 2000;48:167-80 pubmed..Sarcoglycan may be an independent signaling or regulatory module whose position in the membrane is determined by dystrophin but whose function is carried out independent of the dystrophin-dystroglycan-laminin axis. ..
- Wang W, Thornton K, Berry A, Long M. Nucleotide variation along the Drosophila melanogaster fourth chromosome. Science. 2002;295:134-7 pubmed publisher..Finally, contrary to the expectation of no recombination, we identified six recombination events within the chromosome. Thus, positive Darwinian selection and recombination have affected the evolution of this chromosome...
- Reinke C, Kozik P, Glick B. Golgi inheritance in small buds of Saccharomyces cerevisiae is linked to endoplasmic reticulum inheritance. Proc Natl Acad Sci U S A. 2004;101:18018-23 pubmed..This basic mechanism of Golgi inheritance may be conserved from yeast to vertebrate cells. ..
- Alappat E, Feig C, Boyerinas B, Volkland J, Samuels M, Murmann A, et al. Phosphorylation of FADD at serine 194 by CKIalpha regulates its nonapoptotic activities. Mol Cell. 2005;19:321-32 pubmed..In contrast, a low level of cycling splenocytes from mice expressing FADD with a mutated phosphorylation site was insensitive to CKI inhibition. These data suggest that phosphorylation of FADD by CKI is a crucial event during mitosis. ..
- Ohno M, Sametsky E, Silva A, Disterhoft J. Differential effects of alphaCaMKII mutation on hippocampal learning and changes in intrinsic neuronal excitability. Eur J Neurosci. 2006;23:2235-40 pubmed..Our findings suggest that alphaCaMKII signaling may function to suppress learning-unrelated changes during training, thereby allowing hippocampal CA1 neurons to increase their excitability appropriately for encoding spatial memories. ..
- Mesulam M, Johnson N, Krefft T, Gass J, Cannon A, Adamson J, et al. Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. Arch Neurol. 2007;64:43-7 pubmed..In both families, the disease segregated with progranulin gene mutations. Whether progranulin dysfunction also extends to sporadic PPA and how it affects the initial anatomical specificity of neurodegeneration remain to be determined. ..
- Mancini A, Lawley L, Uzel G. X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. Arch Dermatol. 2008;144:342-6 pubmed publisher..Early recognition and diagnosis are desirable, prior to the onset of manifestations of immunodeficiency. ..
- Kim E, Veazey R, Zahn R, McEvers K, Baumeister S, Foster G, et al. Contribution of CD8+ T cells to containment of viral replication and emergence of mutations in Mamu-A*01-restricted epitopes in Simian immunodeficiency virus-infected rhesus monkeys. J Virol. 2008;82:5631-5 pubmed publisher..These results confirm the importance of cytotoxic T cells in controlling viremia and the constraint on epitope sequences that require compensatory changes to go to fixation...
- Söderberg M, Cianciotto N. Mediators of lipid A modification, RNA degradation, and central intermediary metabolism facilitate the growth of Legionella pneumophila at low temperatures. Curr Microbiol. 2010;60:59-65 pubmed publisher..Thus, L. pneumophila not only employs some of the same processes and factors as other bacteria do in order to survive at low temperatures (e.g., LpxP, CsdA), but it also appears to possess novel modes of cold adaptation. ..
- Friedland Little J, Hoffmann A, Ocbina P, Peterson M, Bosman J, Chen Y, et al. A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus. Hum Mol Genet. 2011;20:3725-37 pubmed publisher..We propose a model in which mutation of Ift172 results in a specific class of abnormal cilia, causing disrupted Hh signaling while maintaining L-R axis determination, and resulting in the VACTERL-H phenotype. ..
- Moser B, Chang Y, Kosti J, Nakamura T. Tel1ATM and Rad3ATR kinases promote Ccq1-Est1 interaction to maintain telomeres in fission yeast. Nat Struct Mol Biol. 2011;18:1408-13 pubmed publisher..These findings establish Tel1(ATM)/Rad3(ATR)-dependent Ccq1 Thr93 phosphorylation as a critical regulator of telomere maintenance in fission yeast. ..
- Samuelov L, Sarig O, Harmon R, Rapaport D, Ishida Yamamoto A, Isakov O, et al. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet. 2013;45:1244-1248 pubmed publisher..Our deciphering of the pathogenesis of SAM syndrome substantiates the notion that allergy may result from a primary structural epidermal defect. ..
- Fontebasso A, Papillon Cavanagh S, Schwartzentruber J, Nikbakht H, Gerges N, Fiset P, et al. Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma. Nat Genet. 2014;46:462-6 pubmed publisher..This work considerably expands the number of potential treatment targets and further justifies pretreatment biopsy in pediatric mHGA as a means to orient therapeutic efforts in this disease. ..
- Li J, Cai T, Jiang Y, Chen H, He X, Chen C, et al. Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. Mol Psychiatry. 2016;21:290-7 pubmed publisher..Finally, we constructed a freely available NPdenovo database, which provides a comprehensive catalog of the DNMs identified in neuropsychiatric disorders. ..
- Robey M, Cianciotto N. Legionella pneumophila feoAB promotes ferrous iron uptake and intracellular infection. Infect Immun. 2002;70:5659-69 pubmed..These data represent the first evidence for the importance of ferrous iron transport for intracellular replication by a human pathogen...
- Pearse I, Zhu Y, Murray E, Dudeja P, Ramaswamy K, Malakooti J. Sp1 and Sp3 control constitutive expression of the human NHE2 promoter by interactions with the proximal promoter and the transcription initiation site. Biochem J. 2007;407:101-11 pubmed
- LaMarre J, Howden B, Mankin A. Inactivation of the indigenous methyltransferase RlmN in Staphylococcus aureus increases linezolid resistance. Antimicrob Agents Chemother. 2011;55:2989-91 pubmed publisher..Since many mutations could inactivate the rlmN gene, our findings unveil a potential mechanism for future linezolid resistance in clinical strains. ..
- Shen X, Ying H, Yue B. Wnt activation by wild type and mutant myocilin in cultured human trabecular meshwork cells. PLoS ONE. 2012;7:e44902 pubmed publisher..P370L and Q368X mutations induced similar phenotypes, suggesting one possible mechanism how the mutants may lead to TM cell damage and pathology. ..
- Chan Y, Frankel M, Dengler V, Schneewind O, Missiakas D. Staphylococcus aureus mutants lacking the LytR-CpsA-Psr family of enzymes release cell wall teichoic acids into the extracellular medium. J Bacteriol. 2013;195:4650-9 pubmed publisher..We propose a model whereby the S. aureus ?lcp mutant, defective in tethering WTA to the cell wall, cleaves WTA synthesis intermediates, releasing ribitol phosphate into the medium and recycling bactoprenol for peptidoglycan synthesis. ..
- Powis Z, Hart A, Cherny S, Petrik I, Palmaer E, Tang S, et al. Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. BMC Med Genet. 2017;18:60 pubmed publisher..The reported features in this infant including multiple hemivertebrae, imperforate anus, aplasia of thumbs and first toes have not been reported in previous patients, thus expanding the clinical phenotype for this rare disorder. ..
- Qian Z, Huang H, Hong J, Burck C, Johnston S, Berman J, et al. Yeast Ty1 retrotransposition is stimulated by a synergistic interaction between mutations in chromatin assembly factor I and histone regulatory proteins. Mol Cell Biol. 1998;18:4783-92 pubmed..A model explaining the synergistic interaction between cac and hir mutations in terms of alterations in chromatin structure is proposed. ..
- Huang H, Hong J, Burck C, Liebman S. Host genes that affect the target-site distribution of the yeast retrotransposon Ty1. Genetics. 1999;151:1393-407 pubmed..These data, together with previous studies of Ty1 integration positions at CAN1 and SUP4, indicate that the rad6 effect on Ty1 target-site selection is not gene specific. ..
- Hack A, Lam M, Cordier L, Shoturma D, Ly C, Hadhazy M, et al. Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. J Cell Sci. 2000;113 ( Pt 14):2535-44 pubmed..Furthermore, these molecular differences were associated with different mechanical consequences for the muscle plasma membrane. Through this in vivo analysis, a model for sarcoglycan assembly is proposed. ..
- Zhu L, Wilken J, Phillips N, Narendra U, Chan G, Stratton S, et al. Sexual dimorphism in diverse metazoans is regulated by a novel class of intertwined zinc fingers. Genes Dev. 2000;14:1750-64 pubmed..The structure provides a foundation for analysis of DM mutations affecting sexual dimorphism and courtship behavior. ..
- Wang Y, Huang G, Wang J, Molina H, Chaplin D, Fu Y. Antigen persistence is required for somatic mutation and affinity maturation of immunoglobulin. Eur J Immunol. 2000;30:2226-34 pubmed..Thus, these data support a model in which prolonged availability of antigen is required for somatic mutation and affinity maturation, and FDC or adjuvants facilitate such processes by slowly releasing antigens. ..
- Kang S, Kramer J. Nidogen is nonessential and not required for normal type IV collagen localization in Caenorhabditis elegans. Mol Biol Cell. 2000;11:3911-23 pubmed..Both nid-1 mutants assemble type IV collagen in a completely wild-type pattern, demonstrating that nidogen is not essential for type IV collagen assembly into basement membranes. ..
- Batlle D, Ghanekar H, Jain S, Mitra A. Hereditary distal renal tubular acidosis: new understandings. Annu Rev Med. 2001;52:471-84 pubmed..Thus, the presence of deafness and the type provide an important clue to the genetic lesion underlying hereditary dRTA...
- Kalinichenko V, Lim L, Stolz D, Shin B, Rausa F, Clark J, et al. Defects in pulmonary vasculature and perinatal lung hemorrhage in mice heterozygous null for the Forkhead Box f1 transcription factor. Dev Biol. 2001;235:489-506 pubmed..Reduction in the level of Foxf1 caused neonatal pulmonary hemorrhage and abnormalities in alveologenesis, implicating this transcription factor in the regulation of mesenchyme-epithelial interaction critical for lung morphogenesis. ..
- Bettencourt B, Feder M. Rapid concerted evolution via gene conversion at the Drosophila hsp70 genes. J Mol Evol. 2002;54:569-86 pubmed publisher..These results suggest that the homogenizing and diversifying roles of conversion interact to drive dynamic concerted evolution of the hsp70 genes...
- Lu M, Kwan T, Yu C, Chen F, Freedman B, Schafer J, et al. Peroxisome proliferator-activated receptor gamma agonists promote TRAIL-induced apoptosis by reducing survivin levels via cyclin D3 repression and cell cycle arrest. J Biol Chem. 2005;280:6742-51 pubmed..We also demonstrate for the first time that TZDs promote TRAIL-induced apoptosis of breast cancer in vivo, suggesting that this combination may be an effective therapy for cancer. ..
- Verma S, Patel S, Kaur R, Chung Y, Duk B, Dikshit K, et al. Mutational study of the bacterial hemoglobin distal heme pocket. Biochem Biophys Res Commun. 2005;326:290-7 pubmed..Models of the effects of the mutations on distal pocket structure were consistent with the experimental findings, particularly the larger effects of the GlnE7His change...
- Connerly P, Esaki M, Montegna E, Strongin D, Levi S, Soderholm J, et al. Sec16 is a determinant of transitional ER organization. Curr Biol. 2005;15:1439-47 pubmed..However, little is known about how COPII components are concentrated at tER sites. The budding yeast Pichia pastoris contains discrete tER sites and is, therefore, an ideal system for studying tER organization...
- Adley B, Smith N, Nayar R, Yang X. Birt-Hogg-Dubé syndrome: clinicopathologic findings and genetic alterations. Arch Pathol Lab Med. 2006;130:1865-70 pubmed..Numerous mutations have been described in the BHD gene. Studies are ongoing to determine the relationship between the BHD gene and development of sporadic renal cell carcinoma and other lesions. ..
- Siddiqui S, Loganathan S, Krishnaswamy S, Faoro L, Jagadeeswaran R, Salgia R. C. elegans as a model organism for in vivo screening in cancer: effects of human c-Met in lung cancer affect C. elegans vulva phenotypes. Cancer Biol Ther. 2008;7:856-63 pubmed..elegans transgenic animals. We therefore propose the use of C. elegans as a model to rapidly assess the role of cancer specific gene mutations in the context of a whole organism. ..
- Silinsky E. Selective disruption of the mammalian secretory apparatus enhances or eliminates calcium current modulation in nerve endings. Proc Natl Acad Sci U S A. 2008;105:6427-32 pubmed publisher..In contrast, cleavage of the synaptic vesicle SNARE (synaptobrevin) in conjunction with deletion of the vesicle-docking protein Rab3A greatly enhances the efficacy of calcium current modulation. ..
- Lan L, Cheng A, Dunman P, Missiakas D, He C. Golden pigment production and virulence gene expression are affected by metabolisms in Staphylococcus aureus. J Bacteriol. 2010;192:3068-77 pubmed publisher..aureus. This study also establishes the importance of purine biosynthesis and oxidative phosphorylation for in vivo survival. ..
- Dobritsa A, Lei Z, Nishikawa S, Urbanczyk Wochniak E, Huhman D, Preuss D, et al. LAP5 and LAP6 encode anther-specific proteins with similarity to chalcone synthase essential for pollen exine development in Arabidopsis. Plant Physiol. 2010;153:937-55 pubmed publisher..Finally, the genetic interaction between LAP5 and an anther gene involved in fatty acid hydroxylation (CYP703A2) demonstrated that they act synergistically in exine production. ..
- Uysal S, Cuello L, Cortes D, Koide S, Kossiakoff A, Perozo E. Mechanism of activation gating in the full-length KcsA K+ channel. Proc Natl Acad Sci U S A. 2011;108:11896-9 pubmed publisher..We suggest that by limiting the extent to which the inner gate can open, the cytoplasmic domain also modulates the level of inactivation occurring at the selectivity filter. ..
- Bhat U, Jagadeeswaran R, Halasi M, Gartel A. Nucleophosmin interacts with FOXM1 and modulates the level and localization of FOXM1 in human cancer cells. J Biol Chem. 2011;286:41425-33 pubmed publisher..Targeting the interaction between FOXM1 and NPM by peptides or small molecules may represent a novel therapeutic strategy against cancer. ..
- Musset B, Smith S, Rajan S, Morgan D, Cherny V, DeCoursey T. Aspartate?112 is the selectivity filter of the human voltage-gated proton channel. Nature. 2011;480:273-7 pubmed publisher..Evidently, the proton specificity of H(V)1 requires an acidic group at the selectivity filter. ..
- Ono M, Qiang W, Serna V, Yin P, Coon J, Navarro A, et al. Role of stem cells in human uterine leiomyoma growth. PLoS ONE. 2012;7:e36935 pubmed publisher..Thus, we tested the hypothesis that a distinct stem/reservoir cell-enriched population, designated as the leiomyoma-derived side population (LMSP), is responsible for cell proliferation and tumor growth...
- Quattrocolo G, Maccaferri G. Novel GABAergic circuits mediating excitation/inhibition of Cajal-Retzius cells in the developing hippocampus. J Neurosci. 2013;33:5486-98 pubmed publisher..In conclusion, we have unraveled a novel hippocampal microcircuit with complex GABAergic synaptic signaling, which we suggest may play a role in the refinement of the hippocampal network and connections during development. ..
- Farrell P, White T, Howenstine M, Munck A, Parad R, Rosenfeld M, et al. Diagnosis of Cystic Fibrosis in Screened Populations. J Pediatr. 2017;181S:S33-S44.e2 pubmed publisher..cftr2.org/index.php] should be used to aid with CF diagnosis. Finally, to avoid delays in treatment, we provide guidelines for presumptive diagnoses and recommend how to determine the age of diagnosis. ..
- Stein E, DiNardo C, Pollyea D, Fathi A, Roboz G, Altman J, et al. Enasidenib in mutant IDH2 relapsed or refractory acute myeloid leukemia. Blood. 2017;130:722-731 pubmed publisher..Inducing differentiation of myeloblasts, not cytotoxicity, seems to drive the clinical efficacy of enasidenib. This trial was registered at www.clinicaltrials.gov as #NCT01915498...
- Song J, Lu H, Greenberg J. Divergent roles in Arabidopsis thaliana development and defense of two homologous genes, aberrant growth and death2 and AGD2-LIKE DEFENSE RESPONSE PROTEIN1, encoding novel aminotransferases. Plant Cell. 2004;16:353-66 pubmed publisher..We suggest that AGD2 synthesizes an important amino acid-derived molecule that promotes development and suppresses defenses, whereas ALD1 generates a related amino acid-derived molecule important for activating defense signaling...
- Sisson B, Topczewski J. Expression of five frizzleds during zebrafish craniofacial development. Gene Expr Patterns. 2009;9:520-7 pubmed publisher..However, fzd7a is only expressed in the neural crest of the pharyngeal arches and fzd8a is expressed in the pharyngeal endoderm. ..
- Di Cosmo C, McLellan N, Liao X, Khanna K, Weiss R, Papp L, et al. Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X). J Clin Endocrinol Metab. 2009;94:4003-9 pubmed publisher..The demonstration that SBP2 isoforms containing all functional domains could be synthesized from three downstream ATGs explains the relatively mild phenotype caused by this defect. ..
- Mukhopadhyay A, Jarrett J, Chlon T, Kessler J. HeyL regulates the number of TrkC neurons in dorsal root ganglia. Dev Biol. 2009;334:142-51 pubmed publisher..Double null mutation of both Hey1 and HeyL rescued TrkC(+) neuron numbers to control levels. Thus, the balance between HeyL and Hey1 expression regulates the differentiation of a subpopulation of TrkC(+) neurons in the DRG. ..
- Christen Zaech S, Imoto K, Khan S, Oh K, Tamura D, DiGiovanna J, et al. Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew. Arch Dermatol. 2009;145:1285-91 pubmed publisher..Counseling families at risk for a rare inherited disease is not always straightforward. The sociocultural and demographic backgrounds of the families must be considered for evaluation of risk assessment. ..
- Aziz M, Shen H, Maki C. Acquisition of p53 mutations in response to the non-genotoxic p53 activator Nutlin-3. Oncogene. 2011;30:4678-86 pubmed publisher..These findings have implications for the potential clinical use of Nutlin and other small molecule MDM2 antagonists. ..
- Huang X, Yan Y, Tu Y, Gatti J, Broze G, Zhou A, et al. Structural basis for catalytic activation of protein Z-dependent protease inhibitor (ZPI) by protein Z. Blood. 2012;120:1726-33 pubmed publisher..These findings identify the key determinants of catalytic activation of ZPI by PZ and suggest novel strategies for ameliorating hemophilic states through drugs that disrupt the ZPI-PZ interaction. ..
- Minogue P, Beyer E, Berthoud V. A connexin50 mutant, CX50fs, that causes cataracts is unstable, but is rescued by a proteasomal inhibitor. J Biol Chem. 2013;288:20427-34 pubmed publisher..The efficacy of epoxomicin in restoring function suggests that protease inhibition might have therapeutic value for this and other diseases caused by mutants with similar defects. ..
- Barclay S, Rand C, Gray P, Gibson W, Wilson R, Berry Kravis E, et al. Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD. Respir Physiol Neurobiol. 2016;221:59-63 pubmed publisher..No rare or novel mutations were identified in the exons of HCRT, HCRTR1, or HCRTR2 genes in a set of 16 ROHHAD patients. ROHHAD is highly unlikely to be caused by mutations in the exons of the genes for hypocretin and its two receptors. ..
- Gautam M, Jara J, Sekerkova G, Yasvoina M, Martina M, Ã–zdinler P. Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms. Hum Mol Genet. 2016;25:1074-87 pubmed publisher..UCHL1-eGFP mice help understand the underlying cellular factors that lead to CSMN vulnerability in diseases, and our findings reveal unique importance of alsin function for CSMN health and stability. ..
- Fishman G, Stone E, Gilbert L, Sheffield V. Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa. Arch Ophthalmol. 1992;110:646-53 pubmed..We documented the association of a distinct phenotype of autosomal dominant retinitis pigmentosa with a better visual prognosis and a specific rhodopsin gene mutation. ..
- Refetoff S. Resistance to thyrotropin. J Endocrinol Invest. 2003;26:770-9 pubmed..A larger proportion of families express the phenotype of resistance to TSH in the absence of a TSHr defect. In many the inheritance is dominant and the genetic cause has not been yet determined...
- Kapatral V, Campbell J, Minnich S, Thomson N, Matsumura P, Prüss B. Gene array analysis of Yersinia enterocolitica FlhD and FlhC: regulation of enzymes affecting synthesis and degradation of carbamoylphosphate. Microbiology. 2004;150:2289-300 pubmed..These data are consistent with the hypothesis that temperature regulation of flagella genes might be mediated by the flagella-specific sigma factor FliA and not the flagella master regulator FlhD/FlhC...
- Raverot G, Lejeune H, Kotlar T, Pugeat M, Jameson J. X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility. J Clin Endocrinol Metab. 2004;89:4146-8 pubmed..Three patients had 609 T-->C, 2 patients had 609 T-->C and 732 A-->C, and one had 978 G-->A. These data indicate that mutations in the SOX3 gene are not a common cause of male infertility. ..
- Guest S, Pilipenko E, Sharma K, Chumakov K, Roos R. Molecular mechanisms of attenuation of the Sabin strain of poliovirus type 3. J Virol. 2004;78:11097-107 pubmed..This study also demonstrates the use of the chicken embryo to easily investigate translation of RNA within a neuron in the CNS of an intact living organism. ..
- Datta A, Sen J, Hagen J, Korgaonkar C, Caffrey M, Quelle D, et al. ARF directly binds DP1: interaction with DP1 coincides with the G1 arrest function of ARF. Mol Cell Biol. 2005;25:8024-36 pubmed..Also, the interaction between ARF and DP1 is enhanced during oncogenic stress and "culture shock." Taken together, our results show that DP1 is a critical direct target of ARF. ..
- Dresios J, Chan Y, Wool I. Determination of the amino acids in yeast ribosomal protein YS11 essential for the recognition of nucleotides in 18 S ribosomal RNA. J Biol Chem. 2006;281:13478-84 pubmed..Apparently, proximities alone do not define either the amino acids or the nucleotides that are important for recognition. ..
- Gracheva E, Burdina A, Touroutine D, Berthelot Grosjean M, Parekh H, Richmond J. Tomosyn negatively regulates CAPS-dependent peptide release at Caenorhabditis elegans synapses. J Neurosci. 2007;27:10176-84 pubmed..Based on this analysis, we conclude that the changes in DCV release in tom-1 and unc-31 mutants reflect direct effects of TOM-1 and UNC-31 on DCV exocytosis, rather than altered SV release. ..
- Taimen P, Pfleghaar K, Shimi T, Möller D, Ben Harush K, Erdos M, et al. A progeria mutation reveals functions for lamin A in nuclear assembly, architecture, and chromosome organization. Proc Natl Acad Sci U S A. 2009;106:20788-93 pubmed publisher..The study also emphasizes the importance of lamins in nuclear assembly and chromatin organization. ..
- Dellefave L, McNally E. The genetics of dilated cardiomyopathy. Curr Opin Cardiol. 2010;25:198-204 pubmed publisher..However, the large amount of benign human genetic variation may complicate genetic results and often requires a skilled team to accurately interpret the findings. ..
- Rao G, Liu D, Xing M, Tauler J, Prinz R, Xu X. Induction of heparanase-1 expression by mutant B-Raf kinase: role of GA binding protein in heparanase-1 promoter activation. Neoplasia. 2010;12:946-56 pubmed..Taken together, our study suggests that B-Raf kinase activation plays an important role in regulating HPR1 expression. Increased HPR1 expression may contribute to the aggressive behavior of BRAF-mutated cancer. ..
- Carter C, Rajan A, Keen C, Szabo E, Khozin S, Thomas A, et al. Selumetinib with and without erlotinib in KRAS mutant and KRAS wild-type advanced nonsmall-cell lung cancer. Ann Oncol. 2016;27:693-9 pubmed publisher..The association of immune subsets and immune checkpoint receptor expression with selumetinib may warrant further studies. ..
- Schultz J, Tansey T, Gremke L, Storti R. A muscle-specific intron enhancer required for rescue of indirect flight muscle and jump muscle function regulates Drosophila tropomyosin I gene expression. Mol Cell Biol. 1991;11:1901-11 pubmed..One of the intron domains is required for expression in the indirect flight muscle of the adult. The function of the second domain is unknown, but it could regulate the level of expression or be required for expression in other muscle. ..
- Park Y, Kramer J. The C. elegans sqt-1 and rol-6 collagen genes are coordinately expressed during development, but not at all stages that display mutant phenotypes. Dev Biol. 1994;163:112-24 pubmed..We propose that dauer animals display a mutant phenotype in the absence of mutant collagen because they maintain the abnormal morphology that was generated in the preceding L2d stage. ..
- Stubenrauch F, Lim H, Laimins L. Differential requirements for conserved E2 binding sites in the life cycle of oncogenic human papillomavirus type 31. J Virol. 1998;72:1071-7 pubmed..The specific arrangement of E2 binding sites within the URR appears to be more important for viral replication than merely the number of sites. ..
- Dementiev A, Simonovic M, Volz K, Gettins P. Canonical inhibitor-like interactions explain reactivity of alpha1-proteinase inhibitor Pittsburgh and antithrombin with proteinases. J Biol Chem. 2003;278:37881-7 pubmed..This suggests a general, limited, canonical-like interaction between serpins and proteinases in their Michaelis complexes. ..
- Hagglund R, Roizman B. Herpes simplex virus 1 mutant in which the ICP0 HUL-1 E3 ubiquitin ligase site is disrupted stabilizes cdc34 but degrades D-type cyclins and exhibits diminished neurotoxicity. J Virol. 2003;77:13194-202 pubmed..We conclude that the ICP0 HUL-1 domain acts in infected cells to degrade cdc34 and that this function requires the interaction of cdc34 with sequences in exons 2 and 3 but does not involve the HUL-2 RING finger E3 domain. ..
- Chen K, Featherstone D. Discs-large (DLG) is clustered by presynaptic innervation and regulates postsynaptic glutamate receptor subunit composition in Drosophila. BMC Biol. 2005;3:1 pubmed..The mechanism(s) stabilizing GluRIIA-containing receptors remains unknown. ..
- Liebl F, Werner K, Sheng Q, Karr J, McCabe B, Featherstone D. Genome-wide P-element screen for Drosophila synaptogenesis mutants. J Neurobiol. 2006;66:332-47 pubmed