Genomes and Genes
Experts and Doctors on mutation in Dallas, Texas, United States
Locale: Dallas, Texas, United States
Publications350 found, 100 shown here
- Rogers E, Bishop J, Waddle J, Schumacher J, Lin R. The aurora kinase AIR-2 functions in the release of chromosome cohesion in Caenorhabditis elegans meiosis. J Cell Biol. 2002;157:219-29 pubmed..We propose that AIR-2 promotes the release of chromosome cohesion via phosphorylation of REC-8 at specific chromosomal locations and that CeGLC-7alpha/beta, directly or indirectly, antagonize AIR-2 activity. ..
- Zhou J, Johnson J, Ghetie V, Ober R, Ward E. Generation of mutated variants of the human form of the MHC class I-related receptor, FcRn, with increased affinity for mouse immunoglobulin G. J Mol Biol. 2003;332:901-13 pubmed..In turn, understanding human FcRn function has significance for the optimization of the serum half-lives of therapeutic and prophylactic antibodies. ..
- Yang X, Pal U, Alani S, Fikrig E, Norgard M. Essential role for OspA/B in the life cycle of the Lyme disease spirochete. J Exp Med. 2004;199:641-8 pubmed..However, OspA/B function was essential for Bb colonization of and survival within tick midguts, events crucial for sustaining Bb in its natural enzootic life cycle. ..
- Dravis C, Yokoyama N, Chumley M, Cowan C, Silvany R, Shay J, et al. Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development. Dev Biol. 2004;271:272-90 pubmed..Our data thus indicate that B-subclass Eph and ephrin molecules play an important role in these clinically significant midline cell-cell adhesion and fusion events. ..
- Taivassalo T, Haller R. Exercise and training in mitochondrial myopathies. Med Sci Sports Exerc. 2005;37:2094-101 pubmed..Although considerable progress has been made, an immediate urgency exists to resolve the effects of chronic exercise on skeletal muscle in patients with heteroplasmic mtDNA mutations...
- Reading N, Torres A, Kendall M, Hughes D, Yamamoto K, Sperandio V. A novel two-component signaling system that activates transcription of an enterohemorrhagic Escherichia coli effector involved in remodeling of host actin. J Bacteriol. 2007;189:2468-76 pubmed..These findings suggest the QseEF is a two-component system involved in the regulation of AE lesion formation by EHEC. ..
- McNutt M, Lagace T, Horton J. Catalytic activity is not required for secreted PCSK9 to reduce low density lipoprotein receptors in HepG2 cells. J Biol Chem. 2007;282:20799-803 pubmed..We conclude that the ability of PCSK9 to degrade LDLRs is independent of catalytic activity and suggest that PCSK9 functions as a chaperone to prevent LDLR recycling and/or to target LDLRs for lysosomal degradation. ..
- Ulery Reynolds P, Castillo M, Vialou V, Russo S, Nestler E. Phosphorylation of DeltaFosB mediates its stability in vivo. Neuroscience. 2009;158:369-72 pubmed publisher..We show here that this phosphorylation reaction is also important for DeltaFosB's stability in the brain in vivo and for the unique behavioral plasticity mediated by this transcription factor. ..
- ..Fortunately, standard 'non-specific' medical and surgical therapy is effective in slowing deterioration or compensating for organ failure in patients with Fabry disease. All these aspects are discussed in detail in the present review. ..
- Deford Watts L, Tassin T, Becker A, Medeiros J, Albanesi J, Love P, et al. The cytoplasmic tail of the T cell receptor CD3 epsilon subunit contains a phospholipid-binding motif that regulates T cell functions. J Immunol. 2009;183:1055-64 pubmed publisher..Overall, these findings demonstrate a functional role for the CD3 epsilon lipid-binding domain in T cell biology. ..
- Huang S, Jia K, Wang Y, Zhou Z, Levine B. Autophagy genes function in apoptotic cell corpse clearance during C. elegans embryonic development. Autophagy. 2013;9:138-49 pubmed publisher..Together, these data demonstrate that autophagy proteins play an important role in cell corpse clearance during nematode embryonic development, and likely function in parallel to known pathways involved in corpse removal. ..
- Chen X, Stewart E, Shelat A, Qu C, Bahrami A, Hatley M, et al. Targeting oxidative stress in embryonal rhabdomyosarcoma. Cancer Cell. 2013;24:710-24 pubmed publisher..High-throughput screening of primary cultures derived from those xenografts identified oxidative stress as a pathway of therapeutic relevance for ERMS. ..
- Signer R, Magee J, Salic A, Morrison S. Haematopoietic stem cells require a highly regulated protein synthesis rate. Nature. 2014;509:49-54 pubmed publisher..Pten deficiency thus depletes HSCs and promotes leukaemia partly by increasing protein synthesis. Either increased or decreased protein synthesis impairs HSC function. ..
- McPhaul M, Marcelli M, Zoppi S, Wilson C, Griffin J, Wilson J. Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. J Clin Invest. 1992;90:2097-101 pubmed..These regions of the androgen receptor may be of particular importance for the formation and function of the hormone-receptor complex. ..
- Bateman R, Jackson D, Slaughter C, Unnithan S, Chai Y, Moomaw C, et al. Identification of the active-site arginine in rat neutral endopeptidase 24.11 (enkephalinase) as arginine 102 and analysis of a glutamine 102 mutant. J Biol Chem. 1989;264:6151-7 pubmed
- Castrillon D, Wasserman S. Diaphanous is required for cytokinesis in Drosophila and shares domains of similarity with the products of the limb deformity gene. Development. 1994;120:3367-77 pubmed..These formin homology domains, which we have termed FH1 and FH2, are also found in Bni1p, the product of a Saccharomyces cerevisiae gene required for normal cytokinesis in diploid yeast cells. ..
- Sanders J, Cope L, Hansen E. Identification of a locus involved in the utilization of iron by Haemophilus influenzae. Infect Immun. 1994;62:4515-25 pubmed..This NTHI hitC mutant was also unable to utilize either iron bound to transferrin or iron chelates. These results suggest that the products encoded by the hitABC genes are essential for the utilization of iron by NTHI...
- Ranganayakulu G, Schulz R, Olson E. Wingless signaling induces nautilus expression in the ventral mesoderm of the Drosophila embryo. Dev Biol. 1996;176:143-8 pubmed..Our results, combined with recent studies from chick, suggest a conserved role for Wg signaling pathways during muscle development. ..
- Ware F, Lehrman M. Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells. J Biol Chem. 1996;271:13935-8 pubmed..9 protein encoded on Caenorhabditis elegans chromosome 5. These results indicate a novel function for the SL15 protein and suggest that MPD synthesis is more complex than previously suspected...
- Wang Z, Wei S, Reed S, Wu X, Svejstrup J, Feaver W, et al. The RAD7, RAD16, and RAD23 genes of Saccharomyces cerevisiae: requirement for transcription-independent nucleotide excision repair in vitro and interactions between the gene products. Mol Cell Biol. 1997;17:635-43 pubmed..This process may involve a unique protein complex which is distinct from the repairosome and which contains at least the Rad4, Rad7, and Rad16 proteins. ..
- Hubacek J, Berge K, Cohen J, Hobbs H. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum Mutat. 2001;18:359-60 pubmed..This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. Nine nonsynonymous polymorphisms are also reported: I523V, C600Y, Q604E, and M622V in ABCG5; and D19H, Y54C, T400K, A632V, and Y641F in ABCG8...
- Sosic D, Richardson J, Yu K, Ornitz D, Olson E. Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity. Cell. 2003;112:169-80 pubmed..These findings reveal an evolutionarily conserved signaling circuit in which twist proteins regulate cytokine signaling by establishing a negative feedback loop that represses the NF-kappaB-dependent cytokine pathway. ..
- Thomas C, Du X, Li P, Wang Y, Ross E, Sprang S. Uncoupling conformational change from GTP hydrolysis in a heterotrimeric G protein alpha-subunit. Proc Natl Acad Sci U S A. 2004;101:7560-5 pubmed..In (K180P)G alpha(i1), the two events are decoupled kinetically, whereas in the native protein they are concerted. ..
- Zhang W, Zhao Y, Tong C, Wang G, Wang B, Jia J, et al. Hedgehog-regulated Costal2-kinase complexes control phosphorylation and proteolytic processing of Cubitus interruptus. Dev Cell. 2005;8:267-78 pubmed..We propose that Cos2 recruits multiple kinases to efficiently phosphorylate Ci and that Hh inhibits Ci phosphorylation by specifically interfering with kinase recruitment. ..
- Brautigam C, Chuang J, Tomchick D, Machius M, Chuang D. Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations. J Mol Biol. 2005;350:543-52 pubmed..The mechanisms by which these mutations impede the function of hE3 are discussed. ..
- Ganti S, Vik S. Chemical modification of mono-cysteine mutants allows a more global look at conformations of the epsilon subunit of the ATP synthase from Escherichia coli. J Bioenerg Biomembr. 2007;39:99-107 pubmed..The results indicate that the two C-terminal alpha-helices do not adopt a fixed conformation under resting conditions, but rather exhibit intrinsic flexibility. ..
- Agarwal A, Kazachkova I, Ten S, Garg A. Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. J Clin Endocrinol Metab. 2008;93:4617-23 pubmed publisher..Severe progeroid features in MAD could result from LMNA mutation, which does not lead to accumulation of prenylated lamin A or prelamin A. ..
- Maitra M, Schluterman M, Nichols H, Richardson J, Lo C, Srivastava D, et al. Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development. Dev Biol. 2009;326:368-77 pubmed publisher..These findings highlight the unique genetic interactions of Gata4 and Gata6 with Tbx5 for normal cardiac morphogenesis in vivo. ..
- Gunasekera R, Hyland K. In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model. Mol Genet Metab. 2009;98:264-72 pubmed publisher..The kinetic values (K(m) and V(max)) for mouse PAH are also reported. ..
- Williamson W, Wang D, Haberman A, Hiesinger P. A dual function of V0-ATPase a1 provides an endolysosomal degradation mechanism in Drosophila melanogaster photoreceptors. J Cell Biol. 2010;189:885-99 pubmed publisher..We propose that V100 exerts a temporally integrated dual function that increases neuronal degradative capacity. ..
- Francis D, Rybalchenko V, STRUYK A, Cannon S. Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia. Neurology. 2011;76:1635-41 pubmed publisher..Gating pore currents arising from missense mutations at arginine residues in the voltage sensor domains of Na(V)1.4 are a common feature of HypoPP mutant channels and contribute to the attacks of paralysis. ..
- Raingo J, Khvotchev M, Liu P, Darios F, Li Y, Ramirez D, et al. VAMP4 directs synaptic vesicles to a pool that selectively maintains asynchronous neurotransmission. Nat Neurosci. 2012;15:738-45 pubmed publisher..These results provide molecular insight into how synapses diversify their release properties by taking advantage of distinct synaptic vesicle-associated SNAREs...
- Mackenzie I, Nicholson A, Sarkar M, Messing J, Purice M, Pottier C, et al. TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron. 2017;95:808-816.e9 pubmed publisher..Moreover, TDP-43 in SGs became less mobile and insoluble. The identification of TIA1 mutations in ALS/FTD reinforces the importance of RNA metabolism and SG dynamics in ALS/FTD pathogenesis. ..
- Chuang J, Davie J, Chinsky J, Wynn R, Cox R, Chuang D. Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients. J Clin Invest. 1995;95:954-63 pubmed..Moreover, the results suggest that the G245R mutant E1 alpha allele may be important in the Hispanic-Mexican population. ..
- Janz R, Goda Y, Geppert M, Missler M, Sudhof T. SV2A and SV2B function as redundant Ca2+ regulators in neurotransmitter release. Neuron. 1999;24:1003-16 pubmed..Our data suggest that without SV2 proteins, presynaptic Ca2+ accumulation during consecutive action potentials causes abnormal increases in neurotransmitter release that destabilize synaptic circuits and induce epilepsy. ..
- Meira L, Reis A, Cheo D, Nahari D, Burns D, Friedberg E. Cancer predisposition in mutant mice defective in multiple genetic pathways: uncovering important genetic interactions. Mutat Res. 2001;477:51-8 pubmed..Mutations in the mismatch repair (MMR) gene Msh2 also influence the carcinogenesis observed in Xpc Trp53 mutant mice. Our results demonstrate that multiple repair pathways operate in prevention of tumor formation. ..
- Smirnova I, Hamblin M, McBride C, Beutler B, Di Rienzo A. Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humans. Genetics. 2001;158:1657-64 pubmed..These results may imply that genetic variants contributing to disease susceptibility occur at low frequencies in the population and suggest strategies for optimizing the design of disease-mapping studies. ..
- Liu Z, Spirek M, Thornton J, Butow R. A novel degron-mediated degradation of the RTG pathway regulator, Mks1p, by SCFGrr1. Mol Biol Cell. 2005;16:4893-904 pubmed..We propose that Mks1p is a central player of RS and is acted upon by multiple regulators of the pathway. ..
- Kroll J, Shi X, Caprioli A, Liu H, Waskow C, Lin K, et al. The BTB-kelch protein KLHL6 is involved in B-lymphocyte antigen receptor signaling and germinal center formation. Mol Cell Biol. 2005;25:8531-40 pubmed..Our results strongly point to a role for KLHL6 in BCR signal transduction and formation of the full germinal center response. ..
- Tu H, Nelson O, Bezprozvanny A, Wang Z, Lee S, Hao Y, et al. Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations. Cell. 2006;126:981-93 pubmed..The ER Ca(2+) leak function of presenilins is independent of their gamma-secretase activity. Our data suggest a Ca(2+) signaling function for presenilins and provide support for the "Ca(2+) hypothesis of AD." ..
- Ma Z, Gong Y, Patel V, Karner C, Fischer E, Hiesberger T, et al. Mutations of HNF-1beta inhibit epithelial morphogenesis through dysregulation of SOCS-3. Proc Natl Acad Sci U S A. 2007;104:20386-91 pubmed..Thus, HNF-1beta regulates tubulogenesis by controlling the levels of SOCS-3 expression. Manipulating the levels of SOCS-3 may be a useful therapeutic approach for human diseases induced by HNF-1beta mutations. ..
- Chang W, Sudhof T. SV2 renders primed synaptic vesicles competent for Ca2+ -induced exocytosis. J Neurosci. 2009;29:883-97 pubmed publisher..Viewed together, these observations suggest that SV2 functions in a maturation step of primed vesicles that converts the vesicles into a Ca(2+)- and synaptotagmin-responsive state. ..
- Matthews K, Ozdemir C, Rawson R. Activation of sterol regulatory element binding proteins in the absence of Scap in Drosophila melanogaster. Genetics. 2010;185:189-98 pubmed publisher..Thus, dScap and dS2P, essential components of the SREBP activation machinery in mammalian cells, are dispensable in Drosophila owing to different compensatory mechanisms. ..
- Sun Y, Lu Y, Chen S, Prasad M, Wang X, Zhu Q, et al. Key proteolytic cleavage site and full-length form of DSPP. J Dent Res. 2010;89:498-503 pubmed publisher..The results of this study revealed the presence of full-length DSPP and its processed fragments in extracts from the pulp/odontoblast and dentin...
- Jia D, Gomez T, Billadeau D, Rosen M. Multiple repeat elements within the FAM21 tail link the WASH actin regulatory complex to the retromer. Mol Biol Cell. 2012;23:2352-61 pubmed publisher..We propose that multivalency enables FAM21 to sense the density of retromer on membranes, allowing coordination of SHRC recruitment, and consequent actin polymerization, with retromer sorting domain organization/maturation. ..
- Ferrarotto R, Goonatilake R, Yoo S, Tong P, Giri U, Peng S, et al. Epithelial-Mesenchymal Transition Predicts Polo-Like Kinase 1 Inhibitor-Mediated Apoptosis in Non-Small Cell Lung Cancer. Clin Cancer Res. 2016;22:1674-1686 pubmed publisher..Our findings have important clinical implications for mesenchymal NSCLC, a significant subtype of the disease that is associated with resistance to currently approved targeted therapies. ..
- 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...
- Li Y, Zhao Y, Su M, Glover K, Chakravarthy S, Colbert C, et al. Structural insights into the interaction of the conserved mammalian proteins GAPR-1 and Beclin 1, a key autophagy protein. Acta Crystallogr D Struct Biol. 2017;73:775-792 pubmed publisher..Thus, changes in the structure of the equatorial groove combined with the improved dimerization of pentad mutant GAPR-1 are likely to abrogate binding to Beclin 1. ..
- Alter G, Casazza J, Zhi W, Nemeth P, Srere P, Evans C. Mutation of essential catalytic residues in pig citrate synthase. Biochemistry. 1990;29:7557-63 pubmed..A mechanism is proposed that electrostatically links His274 and Asp375. ..
- Madison E, Goldsmith E, Gerard R, Gething M, Sambrook J, Bassel Duby R. Amino acid residues that affect interaction of tissue-type plasminogen activator with plasminogen activator inhibitor 1. Proc Natl Acad Sci U S A. 1990;87:3530-3 pubmed
- Horvath D, Watson J, Travis G. Probable exclusion of the cortexin-encoding gene as a candidate for mouse neurological mutants: nervous, tottering and motor neuron degeneration. Gene. 1996;171:305-6 pubmed..No difference from wild-type was seen in any of these mutants. Based upon these observations, we conclude that Ctxn is not involved in the genetic defects found in nr, tg or mnd mice. ..
- White P, Mune T, Agarwal A. 11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev. 1997;18:135-56 pubmed..This gene represents a candidate locus for the common, "essential" form of hypertension. ..
- Kiselev A, Socolich M, Vinós J, Hardy R, Zuker C, Ranganathan R. A molecular pathway for light-dependent photoreceptor apoptosis in Drosophila. Neuron. 2000;28:139-52 pubmed..Together, these data define the proapoptotic molecules in Drosophila photoreceptors and indicate a novel signaling pathway for light-activated rhodopsin molecules in control of photoreceptor viability. ..
- Yamamoto Y, Kim D, Kwak Y, Prajapati S, Verma U, Gaynor R. IKKgamma /NEMO facilitates the recruitment of the IkappaB proteins into the IkappaB kinase complex. J Biol Chem. 2001;276:36327-36 pubmed..These results suggest that an important function of IKKgamma/NEMO is to facilitate the association of both IKKbeta and IkappaB in the high molecular weight IKK complex to increase IkappaB phosphorylation. ..
- Chen Z, Wells C, Sternweis P, Sprang S. Structure of the rgRGS domain of p115RhoGEF. Nat Struct Biol. 2001;8:805-9 pubmed..Mutagenesis experiments show that rgRGS may form interactions with G alpha(13) that are analogous to those in complexes of RGS proteins with their G alpha substrates. ..
- Agarwal A, Arioglu E, De Almeida S, Akkoc N, Taylor S, Bowcock A, et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet. 2002;31:21-3 pubmed..AGPAT2 mRNA is highly expressed in adipose tissue. We conclude that mutations in AGPAT2 may cause congenital generalized lipodystrophy by inhibiting triacylglycerol synthesis and storage in adipocytes. ..
- Liu Z, Sekito T, Spirek M, Thornton J, Butow R. Retrograde signaling is regulated by the dynamic interaction between Rtg2p and Mks1p. Mol Cell. 2003;12:401-11 pubmed..Point mutations in the Rtg2p ATP binding domain simultaneously block RS and Mks1p-Rtg2p interaction. We propose that activation of RS via mitochondrial dysfunction and TOR inhibition intersect at the Rtg2p-Mks1p switch. ..
- McFadden D, Barbosa A, Richardson J, Schneider M, Srivastava D, Olson E. The Hand1 and Hand2 transcription factors regulate expansion of the embryonic cardiac ventricles in a gene dosage-dependent manner. Development. 2005;132:189-201 pubmed..These findings demonstrate that Hand factors play pivotal and partially redundant roles in cardiac morphogenesis, cardiomyocyte differentiation and cardiac-specific transcription. ..
- Lee W, Polson J, Carney D, Sahin B, Gale M. Reemergence of hepatitis C virus after 8.5 years in a patient with hypogammaglobulinemia: evidence for an occult viral reservoir. J Infect Dis. 2005;192:1088-92 pubmed..5 years, had become monoclonal. The prolonged period of negativity for HCV RNA followed by relapse suggests that HCV may persist in apparent sustained viral responders. ..
- Tong A, Nguyen J, Lynch K. Differential expression of CD45 isoforms is controlled by the combined activity of basal and inducible splicing-regulatory elements in each of the variable exons. J Biol Chem. 2005;280:38297-304 pubmed..Together these studies reveal common themes in the regulation of the CD45 variable exons and provide a mechanistic explanation for the observed physiological expression of CD45 isoforms. ..
- Huang G, Wang L, Liu Y. Molecular mechanism of suppression of circadian rhythms by a critical stimulus. EMBO J. 2006;25:5349-57 pubmed..Together, these data suggest that the singularity behavior is due to a circadian negative feedback loop driven to a steady state after the critical treatment. After the initial arrhythmicity, cell populations are then desynchronized. ..
- Bhagavath B, Xu N, Ozata M, Rosenfield R, Bick D, Sherins R, et al. KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans. Mol Hum Reprod. 2007;13:165-70 pubmed..7%). All four mutations were in anosmic/hyposmic men making the prevalence 4/63 (6.3%) in this group of patients. No mutations were found in the 29 female patients. KAL1 mutations are an uncommon cause of Kallmann syndrome. ..
- Puttaparthi K, Van Kaer L, Elliott J. Assessing the role of immuno-proteasomes in a mouse model of familial ALS. Exp Neurol. 2007;206:53-8 pubmed..These results indicate that the loss of immuno-proteasome function in vivo does not significantly alter mutant SOD1-induced disease. ..
- Wang S, Li X, Parra M, Verdin E, Bassel Duby R, Olson E. Control of endothelial cell proliferation and migration by VEGF signaling to histone deacetylase 7. Proc Natl Acad Sci U S A. 2008;105:7738-43 pubmed publisher..These results demonstrate that phosphorylation of HDAC7 serves as a molecular switch to mediate VEGF signaling and endothelial function. ..
- Chen X, Tang T, Tu H, Nelson O, Pook M, Hammer R, et al. Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3. J Neurosci. 2008;28:12713-24 pubmed publisher..Our results indicate that deranged Ca(2+) signaling may play an important role in SCA3 pathology and that Ca(2+) signaling stabilizers such as dantrolene may be considered as potential therapeutic drugs for treatment of SCA3 patients. ..
- Mues G, Griggs R, Hartung A, Whelan G, Best L, Srivastava A, et al. From ectodermal dysplasia to selective tooth agenesis. Am J Med Genet A. 2009;149A:2037-41 pubmed publisher..We also present a new mutation in the EDA gene which causes selective tooth agenesis and demonstrates the phenotype variation that can be encountered in the ectodermal dysplasia syndrome (HED) with the highest prevalence worldwide. ..
- Radyuk S, Michalak K, Klichko V, Benes J, Orr W. Peroxiredoxin 5 modulates immune response in Drosophila. Biochim Biophys Acta. 2010;1800:1153-63 pubmed publisher..Molecular and epistatic analyses identified dPrx5 as a negative regulator in the dTak1-JNK arm of immune signaling. Our findings suggest that peroxiredoxins play an important modulatory role in the Drosophila immune response. ..
- Ford J, Hajibeigi A, Long M, Hahner L, Gore C, Hsieh J, et al. GPR30 deficiency causes increased bone mass, mineralization, and growth plate proliferative activity in male mice. J Bone Miner Res. 2011;26:298-307 pubmed publisher..These data suggest that in male mice, GPR30 action contributes to regulation of bone mass, size, and microarchitecture by a mechanism that does not require changes in circulating IGF-1. ..
- Yang L, Blount P. Manipulating the permeation of charged compounds through the MscL nanovalve. FASEB J. 2011;25:428-34 pubmed publisher..These effects were more drastic for larger compounds and, surprisingly, were related to the orientation of the MscL channel in the membrane. ..
- Rahman M, Haberman A, Tracy C, Ray S, KRAMER H. Drosophila mauve mutants reveal a role of LYST homologs late in the maturation of phagosomes and autophagosomes. Traffic. 2012;13:1680-92 pubmed publisher..Together these data suggest a model in which Mauve functions to restrict homotypic fusion of different pre-lysosomal organelles and LROs. ..
- 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. ..
- Rawson R, Zelenski N, Nijhawan D, Ye J, Sakai J, Hasan M, et al. Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs. Mol Cell. 1997;1:47-57 pubmed..Mutation of the putative zinc-binding residues abolishes S2P activity. S2P encodes an unusual metalloprotease that cleaves proteins within transmembrane segments...
- Simmons A, Musy M, Lopes C, Hwang L, Yang Y, Lovett M. A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. Hum Mol Genet. 1999;8:2155-64 pubmed..The EXT2-GalNAc-T5 interaction provides the first direct physical link between EXT proteins and known components of glycosamino-glycan synthesis...
- Leon A, McKearin D. Identification of TER94, an AAA ATPase protein, as a Bam-dependent component of the Drosophila fusome. Mol Biol Cell. 1999;10:3825-34 pubmed..We also show that fusome association of TER94 is Bam-dependent, suggesting that cystoblast differentiation may be linked to fusome reticulum biogenesis. ..
- Dickson L, Huang H, Liu L, Matsuura M, Lambowitz A, Perlman P. Retrotransposition of a yeast group II intron occurs by reverse splicing directly into ectopic DNA sites. Proc Natl Acad Sci U S A. 2001;98:13207-12 pubmed..This same mechanism could account for other previously described ectopic transposition events in fungi and bacteria and may have contributed to the dispersal of group II introns into different genes. ..
- Liu Q, Rand T, Kalidas S, Du F, Kim H, Smith D, et al. R2D2, a bridge between the initiation and effector steps of the Drosophila RNAi pathway. Science. 2003;301:1921-5 pubmed..These results indicate that R2D2 bridges the initiation and effector steps of the Drosophila RNAi pathway by facilitating siRNA passage from Dicer to RISC. ..
- Bennett M, Boriack R, Narayan S, Rutledge S, Raff M. Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. Mol Genet Metab. 2004;82:59-63 pubmed..Because there are no easily recognizable disease-specific metabolite markers, diagnostic confirmation of this disorder requires a combination of enzymatic analysis and whole gene sequencing. ..
- McMillan D, White P. Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures in mice. Mol Cell Neurosci. 2004;26:322-9 pubmed..These findings suggest that loss of VLGR1 transmembrane and cytoplasmic domains underlies the seizure phenotype in both mutant mouse strains, perhaps by disrupting signals regulating neural development. ..
- Chang C, Pili Floury S, Hervé M, Parquet C, Chelliah Y, Lemaitre B, et al. A Drosophila pattern recognition receptor contains a peptidoglycan docking groove and unusual L,D-carboxypeptidase activity. PLoS Biol. 2004;2:E277 pubmed
- Frey N, Barrientos T, Shelton J, Frank D, Rütten H, Gehring D, et al. Mice lacking calsarcin-1 are sensitized to calcineurin signaling and show accelerated cardiomyopathy in response to pathological biomechanical stress. Nat Med. 2004;10:1336-43 pubmed..These findings show important roles for calsarcins as modulators of calcineurin signaling and the transmission of a specific subset of stress signals leading to cardiac remodeling in vivo. ..
- Zhu Y, Guignard F, Zhao D, Liu L, Burns D, Mason R, et al. Early inactivation of p53 tumor suppressor gene cooperating with NF1 loss induces malignant astrocytoma. Cancer Cell. 2005;8:119-30 pubmed
- Kiselyov K, Chen J, Rbaibi Y, Oberdick D, Tjon Kon Sang S, Shcheynikov N, et al. TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage. J Biol Chem. 2005;280:43218-23 pubmed..The cleavage inhibited TRP-ML1 channel activity. This work provides the first example of inactivation by cleavage of a TRP channel. The significance of the cleavage to the function of TRP-ML1 is under investigation. ..
- Quill T, Wang D, Garbers D. Insights into sperm cell motility signaling through sNHE and the CatSpers. Mol Cell Endocrinol. 2006;250:84-92 pubmed..The specific expression of sNHE and the CatSpers in spermatozoa and their required function in cell motility make them excellent potential targets for the development of novel male contraceptives. ..
- Sun S, Schiller J, Gazdar A. Lung cancer in never smokers--a different disease. Nat Rev Cancer. 2007;7:778-90 pubmed..This Review summarizes our current knowledge of this unique and poorly understood disease...
- Kapadia H, Mues G, D SOUZA R. Genes affecting tooth morphogenesis. Orthod Craniofac Res. 2007;10:237-44 pubmed..We have also identified families with tooth agenesis in whom PAX9 and MSX1 mutations have been excluded opening up the possibilities for the discovery of other genes that contribute to human tooth agenesis. ..
- Yang C. An enzyme-centric approach for modelling non-linear biological complexity. BMC Syst Biol. 2008;2:70 pubmed publisher..The simulations presented in this paper reveal how a living system maintains homeostasis and its robustness to continue functioning while facing environmental stresses or genetic mutations. ..
- McNutt M, Kwon H, Chen C, Chen J, Horton J, Lagace T. Antagonism of secreted PCSK9 increases low density lipoprotein receptor expression in HepG2 cells. J Biol Chem. 2009;284:10561-70 pubmed publisher..These studies support the concept that pharmacological inhibition of the PCSK9-LDLR interaction extracellularly will increase hepatic LDLR expression and lower plasma low density lipoprotein levels. ..