Genomes and Genes
Experts and Doctors on mutation in Iowa City, Iowa, United States
Locale: Iowa City, Iowa, United States
Publications418 found, 100 shown here
- Chen M, Hoshi T, Wu C. Heteromultimeric interactions among K+ channel subunits from Shaker and eag families in Xenopus oocytes. Neuron. 1996;17:535-42 pubmed..Studies on channel subunit interactions may prove important in understanding the disease pattern and the complex functions of the brain. ..
- Salem L, Walter N, Malone R. Suppressor analysis of the Saccharomyces cerevisiae gene REC104 reveals a genetic interaction with REC102. Genetics. 1999;151:1261-72 pubmed..Overexpression of the early meiotic genes REC114, RAD50, HOP1, and RED1 fails to suppress any of the rec104 conditional alleles, indicating that the suppression might be specific to REC102. ..
- Lee J, Wu C. Electroconvulsive seizure behavior in Drosophila: analysis of the physiological repertoire underlying a stereotyped action pattern in bang-sensitive mutants. J Neurosci. 2002;22:11065-79 pubmed
- Gourronc F, Robertson m, Herrig A, Lansdorp P, Goldman F, Klingelhutz A. Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA c. Exp Dermatol. 2010;19:279-88 pubmed publisher..Our results point to important differences between DC fibroblasts and keratinocytes and show, for the first time, that expression of TERC can increase the lifespan of primary human epithelial cells. ..
- Arends S, Williams K, Scott R, Rolong S, Popham D, Weiss D. Discovery and characterization of three new Escherichia coli septal ring proteins that contain a SPOR domain: DamX, DedD, and RlpA. J Bacteriol. 2010;192:242-55 pubmed publisher..One interaction partner is FtsQ, and several synthetic phenotypes suggest that DamX is a negative regulator of FtsQ function. ..
- Iyengar A, Imoehl J, Ueda A, Nirschl J, Wu C. Automated quantification of locomotion, social interaction, and mate preference in Drosophila mutants. J Neurogenet. 2012;26:306-16 pubmed publisher..These initial results demonstrate that IowaFLI Tracker can be employed to explore motor coordination and social interaction phenomena in behavioral mutants of Drosophila. ..
- Ealy M, Lynch K, Meyer N, Smith R. The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population. Laryngoscope. 2011;121:1184-6 pubmed publisher..Although no hearing loss was detected by newborn hearing screens in the at-risk patients, these neonatal intensive care unit graduates have an increased life-time risk for developing aminoglycoside-induced deafness. ..
- Plamann M, Stauffer G. Regulation of the Escherichia coli glyA gene by the metR gene product and homocysteine. J Bacteriol. 1989;171:4958-62 pubmed..The positive-acting metR regulatory system functions independently of a regulatory system shown previously to control glyA gene expression. ..
- Zhao L, Lobo S, Dong X, Ault A, Deschenes R. Erf4p and Erf2p form an endoplasmic reticulum-associated complex involved in the plasma membrane localization of yeast Ras proteins. J Biol Chem. 2002;277:49352-9 pubmed..Erf2p and Erf4p represent components of a previously uncharacterized subcellular transport pathway involved in the plasma membrane targeting of Ras proteins. ..
- Zode G, Kuehn M, Nishimura D, Searby C, Mohan K, Grozdanic S, et al. Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. J Clin Invest. 2011;121:3542-53 pubmed publisher..These results demonstrate that ER stress is linked to the pathogenesis of POAG and may be a target for treatment in human patients. ..
- Jaques S, Kim Y, McCarter L. Mutations conferring resistance to phenamil and amiloride, inhibitors of sodium-driven motility of Vibrio parahaemolyticus. Proc Natl Acad Sci U S A. 1999;96:5740-5 pubmed..Thus, evidence supports the existence of more than one class of sodium-interaction site at which inhibitors can interfere with sodium-driven motility. ..
- Fox L, Soll D, Wu C. Coordination and modulation of locomotion pattern generators in Drosophila larvae: effects of altered biogenic amine levels by the tyramine beta hydroxlyase mutation. J Neurosci. 2006;26:1486-98 pubmed..These observations suggest a role of the biogenic amines in the initiation and modulation of motor pattern generation. The technique presented here can be readily extended to examine the locomotion motor program of other mutants. ..
- Bryan K, Wen K, Zhu M, Rendtorff N, Feldkamp M, Tranebjaerg L, et al. Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function. J Biol Chem. 2006;281:20129-39 pubmed..Our results suggest that a major factor in the deafness caused by these mutations is an altered ability of the actin filaments to be properly regulated by actin-binding proteins rather than an inability to polymerize. ..
- Anghelina D, Pewe L, Perlman S. Pathogenic role for virus-specific CD4 T cells in mice with coronavirus-induced acute encephalitis. Am J Pathol. 2006;169:209-22 pubmed
- Harraz M, Park A, Abbott D, Zhou W, Zhang Y, Engelhardt J. MKK6 phosphorylation regulates production of superoxide by enhancing Rac GTPase activity. Antioxid Redox Signal. 2007;9:1803-13 pubmed..Last, MKK6 deficiency led to an increase in Rac1-GTP levels in brain tissue. Our findings suggest that MKK6 downregulates NADPH oxidase activity by enhancing Rac-GTPase activity. ..
- Eshcol J, Harding A, Hattori T, Costa V, Welsh M, Benson C. Acid-sensing ion channel 3 (ASIC3) cell surface expression is modulated by PSD-95 within lipid rafts. Am J Physiol Cell Physiol. 2008;295:C732-9 pubmed publisher..In addition, we found that cell surface ASIC3 is enriched in the lipid raft fraction. These data suggest that PSD-95 and ASIC3 interact within lipid rafts and that this raft interaction is required for PSD-95 to modulate ASIC3. ..
- Darbro B, Mahajan V, Gakhar L, Skeie J, Campbell E, Wu S, et al. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Hum Mutat. 2013;34:1075-9 pubmed publisher..Structural modeling of the NID1-LAMC1 complex demonstrated that each mutation disrupts the interaction. These findings implicate the ECM in the pathogenesis of Dandy-Walker spectrum disorders. ..
- Zhong Y, Budnik V, Wu C. Synaptic plasticity in Drosophila memory and hyperexcitable mutants: role of cAMP cascade. J Neurosci. 1992;12:644-51 pubmed..The results provide evidence for altered plasticity of synaptic morphology in memory mutants dnc and rut and suggest a role of cAMP cascade in mediating activity-dependent synaptic plasticity. ..
- Wayne S, Liggett K, Pettus J, Nagoshi R. Genetic characterization of small ovaries, a gene required in the soma for the development of the Drosophila ovary and the female germline. Genetics. 1995;139:1309-20 pubmed..In addition, the genetic mapping of the sov locus is presented, including the characterization of two lethal sov alleles and complementation mapping with existing rearrangements. ..
- Smith R, Robin N. Genetic testing for deafness--GJB2 and SLC26A4 as causes of deafness. J Commun Disord. 2002;35:367-77 pubmed..It is also essential for physicians and audiologists to understand the limitations of genetic testing for deafness, and it is imperative that these limitations be appropriately explained to patients and their families...
- Hilton J, Geisler J, Rathe J, Hattermann Zogg M, DeYoung B, Buller R. Inactivation of BRCA1 and BRCA2 in ovarian cancer. J Natl Cancer Inst. 2002;94:1396-406 pubmed..Multiple mechanisms cause nearly universal dysfunction of BRCA1 and/or BRCA2 in hereditary and sporadic ovarian carcinoma. Ovarian cancers with BRCA2 dysfunction often have simultaneous BRCA1 dysfunction. ..
- Jezewski P, Vieira A, Nishimura C, Ludwig B, Johnson M, O Brien S, et al. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet. 2003;40:399-407 pubmed
- Galet C, Ascoli M. The differential binding affinities of the luteinizing hormone (LH)/choriogonadotropin receptor for LH and choriogonadotropin are dictated by different extracellular domain residues. Mol Endocrinol. 2005;19:1263-76 pubmed..This finding has to be considered in future models of the interaction of LH/CG with the LHR. ..
- Westin E, Chavez E, Lee K, Gourronc F, Riley S, Lansdorp P, et al. Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts. Aging Cell. 2007;6:383-94 pubmed..Similar strategies may be useful for ameliorating the detrimental effects of telomere shortening in AD DC and other diseases associated with telomerase or telomere defects. ..
- Plamann M, Stauffer G. Escherichia coli glyA mRNA decay: the role of 3' secondary structure and the effects of the pnp and rnb mutations. Mol Gen Genet. 1990;220:301-6 pubmed..The results support the model of cooperative endonucleolytic and 3' to 5' exonucleolytic activities in mRNA decay. ..
- Sheffield V, Fishman G, Beck J, Kimura A, Stone E. Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet. 1991;49:699-706 pubmed..Furthermore, GC-clamped DGGE has allowed us to identify families with ADRP not caused by a rhodopsin mutation. Such families will be important in the search for other genes involved in ADRP. ..
- Mao Q, Foster B, Xia H, Davidson B. Membrane topology of CLN3, the protein underlying Batten disease. FEBS Lett. 2003;541:40-6 pubmed..The results indicate that CLN3 contains five MSDs, an extracellular/intraluminal amino-terminus, and a cytoplasmic carboxy-terminus. ..
- Tao Y, Johnson N, Segaloff D. Constitutive and agonist-dependent self-association of the cell surface human lutropin receptor. J Biol Chem. 2004;279:5904-14 pubmed..In addition to documenting the self-association of cell surface hLHR, our results underscore the importance of the cellular distribution of recombinant GPCR as it relates to the nature of the GPCR dimerization and oligomerization. ..
- Leontiev V, Maury W, Hadany L. Drug induced superinfection in HIV and the evolution of drug resistance. Infect Genet Evol. 2008;8:40-50 pubmed
- Ersig A, Ayres L, Hadley D, Koehly L. Explanations of risk in families without identified mutations for hereditary nonpolyposis colorectal cancer. J Nurs Scholarsh. 2010;42:139-46 pubmed publisher..In combination with the Awareness and Surveillance Trajectory, assessment of these beliefs can facilitate development of individualized recommendations and strategies for possible preventive actions. ..
- Soshnev A, Ishimoto H, McAllister B, Li X, Wehling M, Kitamoto T, et al. A conserved long noncoding RNA affects sleep behavior in Drosophila. Genetics. 2011;189:455-68 pubmed publisher..Such functions of lncRNAs may extend to vertebrates, as lncRNAs are abundant in neural tissues. ..
- Devor E, Gonzalez Bosquet J, Warrier A, Reyes H, Ibik N, Schickling B, et al. p53 mutation status is a primary determinant of placenta-specific protein 1 expression in serous ovarian cancers. Int J Oncol. 2017;50:1721-1728 pubmed publisher..Thus, we suggest that characterizing tumors for TP53 mutation status, p53 protein status and PLAC1 transcription could be used to predict likely prognosis and inform treatment options in patients diagnosed with serous ovarian cancer. ..
- Chu Y, Iida S, Lund D, Weiss R, DiBona G, Watanabe Y, et al. Gene transfer of extracellular superoxide dismutase reduces arterial pressure in spontaneously hypertensive rats: role of heparin-binding domain. Circ Res. 2003;92:461-8 pubmed..This reduction in arterial pressure may be mediated by vasomotor and/or renal mechanisms. ..
- Engel J, Wu C. Interactions of membrane excitability mutations affecting potassium and sodium currents in the flight and giant fiber escape systems of Drosophila. J Comp Physiol A. 1992;171:93-104 pubmed..This suggests that in these mutants, the DLM motoneuron circuit is able to switch between two patterns of output, non-flight activity and flight.(ABSTRACT TRUNCATED AT 250 WORDS) ..
- Zhong Y, Wu C. Alteration of four identified K+ currents in Drosophila muscle by mutations in eag. Science. 1991;252:1562-4 pubmed..Thus, combinatorial assembly of polypeptides from different genes may contribute to potassium channel diversity. ..
- Anderson M, Certel S, Certel K, Lee T, Montell D, Johnson W. Function of the Drosophila POU domain transcription factor drifter as an upstream regulator of breathless receptor tyrosine kinase expression in developing trachea. Development. 1996;122:4169-78 pubmed..This example of a mechanism for maintenance of a committed cell fate offers a model for understanding how essential gene activities can be maintained throughout organogenesis. ..
- Karniski L. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet. 2001;10:1485-90 pubmed
- Dornfeld K, Johnson M. AP endonuclease deficiency results in extreme sensitivity to thymidine deprivation. Nucleic Acids Res. 2005;33:6644-53 pubmed..Inhibition of apurinic/apyrimidinic endonuclease may therefore be a reasonable approach to increase the efficacy of anticancer chemotherapies based on thymidine depletion. ..
- Bartlett H, Sutherland L, Kolker S, Welp C, Tajchman U, DesMarais V, et al. Transient early embryonic expression of Nkx2-5 mutations linked to congenital heart defects in human causes heart defects in Xenopus laevis. Dev Dyn. 2007;236:2475-84 pubmed..The atrial septum and the valve of the atrioventricular canal were both abnormal. In addition, video microscopic timing of heart contraction indicated that embryos injected with either mutant form of XNkx2-5 have conduction defects. ..
- Arends S, Kustusch R, Weiss D. ATP-binding site lesions in FtsE impair cell division. J Bacteriol. 2009;191:3772-84 pubmed publisher..This structure is not what one would expect of a substrate-specific transmembrane channel, leading us to suggest that FtsEX is not really a transporter even though it probably has to hydrolyze ATP to support cell division...
- Sun Y, Liu L, Ben Shahar Y, Jacobs J, Eberl D, Welsh M. TRPA channels distinguish gravity sensing from hearing in Johnston's organ. Proc Natl Acad Sci U S A. 2009;106:13606-11 pubmed publisher..The results also distinguish between different mechanosensory modalities and set the stage for understanding how TRP channels contribute to mechanosensation. ..
- Engel J, Wu C. Altered habituation of an identified escape circuit in Drosophila memory mutants. J Neurosci. 1996;16:3486-99 pubmed
- Pewe L, Xue S, Perlman S. Cytotoxic T-cell-resistant variants arise at early times after infection in C57BL/6 but not in SCID mice infected with a neurotropic coronavirus. J Virol. 1997;71:7640-7 pubmed
- Grimm A, Harwood C. NahY, a catabolic plasmid-encoded receptor required for chemotaxis of Pseudomonas putida to the aromatic hydrocarbon naphthalene. J Bacteriol. 1999;181:3310-6 pubmed..The protein NahY thus appears to function as a chemoreceptor for naphthalene or a related compound. The presence of nahY on a catabolic plasmid implies that chemotaxis may facilitate biodegradation...
- Sheffield V. Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. Pediatr Res. 2004;55:908-11 pubmed..The study of BBS illustrates the value of using isolated inbred populations for the study of human genetic diseases and suggests strategies for facilitating the study of complex diseases and traits. ..
- Tao Y, Segaloff D. Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation. J Clin Endocrinol Metab. 2004;89:3936-42 pubmed..The corresponding residue is also important for agonist-induced human melanocortin-4 receptor and lutropin receptor activation. In summary, we identify a residue that is critical for activation of G protein-coupled receptors. ..
- Winter M, Shasby S, Shasby D. Compromised E-cadherin adhesion and epithelial barrier function with activation of G protein-coupled receptors is rescued by Y-to-F mutations in beta-catenin. Am J Physiol Lung Cell Mol Physiol. 2008;294:L442-8 pubmed..We also conclude that activation of PAR-2 has no effect on the TER without first interrupting E-cadherin adhesion. ..
- Ueda A, Wu C. Effects of hyperkinetic, a beta subunit of Shaker voltage-dependent K+ channels, on the oxidation state of presynaptic nerve terminals. J Neurogenet. 2008;22:1-13 pubmed publisher..Thus, our results also establish DHR as a useful tool for detecting ROS levels in the Drosophila neuromuscular junction. ..
- Haring S, Mason A, Binz S, Wold M. Cellular functions of human RPA1. Multiple roles of domains in replication, repair, and checkpoints. J Biol Chem. 2008;283:19095-111 pubmed publisher..Our findings suggest that as long as a threshold of RPA-ssDNA binding activity is met, DNA replication can occur and that an RPA activity separate from ssDNA binding is essential for function in DNA repair. ..
- Ren J, Pashkova N, Winistorfer S, Piper R. DOA1/UFD3 plays a role in sorting ubiquitinated membrane proteins into multivesicular bodies. J Biol Chem. 2008;283:21599-611 pubmed publisher..These results reveal novel roles for Doa1 in helping to process ubiquitinated membrane proteins for sorting into MVBs. ..
- Caldwell J, Fineberg S, Eberl D. reduced ocelli encodes the leucine rich repeat protein Pray For Elves in Drosophila melanogaster. Fly (Austin). 2007;1:146-52 pubmed..Our identification and initial characterization of the rdo locus will contribute to the understanding of neurogenesis and neural development in the simple photoreceptors of the Drosophila visual system. ..
- Bassuk A, Wallace R, Buhr A, Buller A, Afawi Z, Shimojo M, et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008;83:572-81 pubmed publisher..PRICKLE1 is expressed in brain regions implicated in epilepsy and ataxia in mice and humans, and, to our knowledge, is the first molecule in the noncanonical WNT signaling pathway to be directly implicated in human epilepsy...
- Ishimoto H, Sakai T, Kitamoto T. Ecdysone signaling regulates the formation of long-term courtship memory in adult Drosophila melanogaster. Proc Natl Acad Sci U S A. 2009;106:6381-6 pubmed publisher..We propose that ecdysone is able to consolidate memories possibly by recapturing molecular and cellular processes that are used for normal neural development. ..
- Johnson S, Hanson P, Manoharlal R, Brice S, Cowart L, Moye Rowley W. Regulation of yeast nutrient permease endocytosis by ATP-binding cassette transporters and a seven-transmembrane protein, RSB1. J Biol Chem. 2010;285:35792-802 pubmed publisher..Together, these data argue that Rsb1, Pdr5, and Yor1 regulate the endocytosis of Tat2 and likely other membrane transporter proteins...
- Van Otterloo E, Li W, Bonde G, Day K, Hsu M, Cornell R. Differentiation of zebrafish melanophores depends on transcription factors AP2 alpha and AP2 epsilon. PLoS Genet. 2010;6:e1001122 pubmed publisher..This work illustrates how analysis of single-gene mutants may fail to identify steps in a GRN that are affected by the redundant activity of related proteins. ..
- Heaney C, Shalev H, Elbedour K, Carmi R, Staack J, Sheffield V, et al. Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. Hum Mol Genet. 1998;7:1407-10 pubmed..Recombination events were used to define the disease interval to an approximately 14 cM region between D11S1983 and D11S2371. A maximum LOD score of 7. 94 was obtained with D11S449 at straight theta = 0...
- Hinkle A, Goranson A, Butters C, Tobacman L. Roles for the troponin tail domain in thin filament assembly and regulation. A deletional study of cardiac troponin T. J Biol Chem. 1999;274:7157-64 pubmed
- Lazari M, Liu X, Nakamura K, Benovic J, Ascoli M. Role of G protein-coupled receptor kinases on the agonist-induced phosphorylation and internalization of the follitropin receptor. Mol Endocrinol. 1999;13:866-78 pubmed..The finding that inhibitors of GRK2 and GRK6 impair phosphorylation, but only the inhibitors of GRK2 impair internalization, suggests that different GRKs have differential effects on receptor internalization. ..
- Nishimura D, Searby C, Alward W, Walton D, Craig J, Mackey D, et al. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet. 2001;68:364-72 pubmed..Of particular interest is the fact that two families have a duplication of 6p25, involving the FOXC1 gene. These data suggest that both FOXC1 haploinsufficiency and increased gene dosage can cause anterior-chamber defects of the eye. ..
- Xu G, Craig A, Greer P, Miller M, Anastasiadis P, Lilien J, et al. Continuous association of cadherin with beta-catenin requires the non-receptor tyrosine-kinase Fer. J Cell Sci. 2004;117:3207-19 pubmed..Expression of wild-type Fer or culture in epidermal growth factor restores the cadherin complex and localization at cell-cell contacts. ..
- Chiang A, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson A, et al. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet. 2004;75:475-84 pubmed..These data illustrate the power of comparative genomic analysis for the study of human disease and identifies a novel BBS gene. ..
- Zimmerman M, Oberley L, Flanagan S. Mutant SOD1-induced neuronal toxicity is mediated by increased mitochondrial superoxide levels. J Neurochem. 2007;102:609-18 pubmed..These data suggest that mitochondrial-produced O(2) (*) radicals play a critical role in mutant SOD1-mediated neuronal toxicity and implicate mitochondrial-produced free radicals as potential therapeutic targets in ALS. ..
- Stokasimov E, McKane M, Rubenstein P. Role of intermonomer ionic bridges in the stabilization of the actin filament. J Biol Chem. 2008;283:34844-54 pubmed publisher..Ala-167 results demonstrate the in vivo and in vitro importance of another potential Arg-39 ionic interaction. ..
- Thompson S, Whiting R, Kardon R, Stone E, Narfstrom K. Effects of hereditary retinal degeneration due to a CEP290 mutation on the feline pupillary light reflex. Vet Ophthalmol. 2010;13:151-7 pubmed publisher..These findings support the hypothesis that the efficacy of planned therapeutic trials can be determined by careful evaluation of the PLR in cats. ..
- Hildebrand M, Avenarius M, Fellous M, Zhang Y, Meyer N, Auer J, et al. Genetic male infertility and mutation of CATSPER ion channels. Eur J Hum Genet. 2010;18:1178-84 pubmed publisher..In addition, we discuss clinical management and therapeutic options for these patients. Finally, we describe how the CATSPER channel could be used as a target for development of a male contraceptive. ..
- Fisher J, Zhang Y, Engelhardt J. Comparative biology of cystic fibrosis animal models. Methods Mol Biol. 2011;742:311-34 pubmed publisher..These cross-species comparisons and the development of both the pig and the ferret CF models may help elucidate pathophysiologic mechanisms of CF lung disease and lead to new therapeutic approaches...
- Leslie E, Mancuso J, Schutte B, Cooper M, Durda K, L heureux J, et al. Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. Am J Med Genet A. 2013;161A:2535-2544 pubmed publisher..We also show that families with the Van de Woude phenotype but in whom no mutations have been identified have a lower frequency of cleft lip, suggesting there may be locus and/or mutation class differences in Van de Woude syndrome. ..
- Warren K, Lin J, McDermott J, Lin J. Forced expression of chimeric human fibroblast tropomyosin mutants affects cytokinesis. J Cell Biol. 1995;129:697-708 pubmed..This suggests that regulation of microfilament integrity in vivo requires stabilizing factors other than, or in addition to, TM. ..
- Ionasescu V, Searby C, Ionasescu R, Neuhaus I, Werner R. Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology. 1996;47:541-4 pubmed..The first mutation is located in the nerve-specific connexin32 promoter just upstream of the transcription start site, the second is located in the 5' untranslated region of the mRNA. ..
- Semina E, Ferrell R, Mintz Hittner H, Bitoun P, Alward W, Reiter R, et al. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet. 1998;19:167-70 pubmed..These data strongly suggest a role for PITX3 in ASMD and cataracts and provide new evidence of the contribution of the RIEG/PITX gene family to the developmental program underpinning normal eye formation. ..
- Amendt B, Sutherland L, Russo A. Transcriptional antagonism between Hmx1 and Nkx2.5 for a shared DNA-binding site. J Biol Chem. 1999;274:11635-42 pubmed..5 attenuated each others activity, suggesting that genes containing the CAAGTG element can integrate signals from these proteins. Therefore, Hmx1 and Nkx2. 5 proteins bind a unique DNA sequence and act as transcriptional antagonists. ..
- Hutchings N, Donelson J, Hill K. Trypanin is a cytoskeletal linker protein and is required for cell motility in African trypanosomes. J Cell Biol. 2002;156:867-77 pubmed publisher..These results indicate that trypanin functions as a cytoskeletal linker protein and offer insights into the mechanisms of flagellum-based cell motility...
- Boes M, Dake B, Booth B, Sandra A, Bateman M, Knudtson K, et al. Structure-function relationships of insulin-like growth factor binding protein 6 (IGFBP-6) and its chimeras. Growth Horm IGF Res. 2002;12:91-8 pubmed..We conclude that chimeras of IGFBP-6 and IGFBP-3(6) clearly differ from IGFBP-4(3) in their ability to bind specifically to endothelial cells and in their capacity to undergo transendothelial transportation in the perfused heart. ..
- Joiner M, Asztalos Z, Jones C, Tully T, Wu C. Effects of mutant Drosophila K+ channel subunits on habituation of the olfactory jump response. J Neurogenet. 2007;21:45-58 pubmed
- Palygin O, Pettus J, Shibata E. Regulation of caveolar cardiac sodium current by a single Gsalpha histidine residue. Am J Physiol Heart Circ Physiol. 2008;294:H1693-9 pubmed publisher..We conclude that G(s)alpha H41 is a critical residue in the regulation of the increase in I(Na) in ventricular myocytes. ..
- Guseva N, Fullenkamp C, Naumann P, Shey M, Ballas Z, Houtman J, et al. Glycosylation contributes to variability in expression of murine cytomegalovirus m157 and enhances stability of interaction with the NK-cell receptor Ly49H. Eur J Immunol. 2010;40:2618-31 pubmed publisher..Thus, glycosylation on m157 enhances expression and binding to Ly49H, factors that may impact the interaction between NK cells and MCMV in vivo where receptor-ligand interactions are more limiting. ..
- Abrera Abeleda M, Nishimura C, Frees K, Jones M, Maga T, Katz L, et al. Allelic variants of complement genes associated with dense deposit disease. J Am Soc Nephrol. 2011;22:1551-9 pubmed publisher..Alternative pathway activity was higher in the presence of variants associated with DDD. Taken together, these data confirm that DDD is a complex genetic disease and may provide targets for the development of disease-specific therapies. ..
- Zhang Q, Nishimura D, Seo S, Vogel T, Morgan D, Searby C, et al. Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proc Natl Acad Sci U S A. 2011;108:20678-83 pubmed publisher..Differences between BBS mouse models suggest nonoverlapping functions to individual BBS protein. ..
- Mei X, Wu S, Bassuk A, Slusarski D. Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis. Dis Model Mech. 2013;6:679-88 pubmed publisher..Taken together, our results indicate that mutation of human PK1 could lead to defects in neurodevelopment and signal processing, providing insight into seizure predisposition in these patients. ..
- Grueter C. Mediator complex dependent regulation of cardiac development and disease. Genomics Proteomics Bioinformatics. 2013;11:151-7 pubmed publisher..Enhanced understanding of the role of this core transcriptional regulatory complex in the heart will help us gain further insights into CVD. ..
- Loeven M, Rops A, Lehtinen M, van Kuppevelt T, Daha M, Smith R, et al. Mutations in Complement Factor H Impair Alternative Pathway Regulation on Mouse Glomerular Endothelial Cells in Vitro. J Biol Chem. 2016;291:4974-81 pubmed publisher..Furthermore, we describe a novel, patient serum-independent competition assay for pathogenicity screening of FH19-20 mutants. ..
- Riley B, Mansilla M, Ma J, Daack Hirsch S, Maher B, Raffensperger L, et al. Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci U S A. 2007;104:4512-7 pubmed..The data suggest that the FGF signaling pathway may contribute to as much as 3-5% of NS CLP and will be a consideration in the clinical management of CLP. ..
- Bonangelino C, Catlett N, Weisman L. Vac7p, a novel vacuolar protein, is required for normal vacuole inheritance and morphology. Mol Cell Biol. 1997;17:6847-58 pubmed..VAC7 encodes a novel 128-kDa protein that is localized at the vacuole membrane. This location of Vac7p is consistent with its involvement in vacuole morphology and inheritance. ..
- Chai Y, Shao J, Miller V, Williams A, Paulson H. Live-cell imaging reveals divergent intracellular dynamics of polyglutamine disease proteins and supports a sequestration model of pathogenesis. Proc Natl Acad Sci U S A. 2002;99:9310-5 pubmed