| 1 | Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations. (Weinstock JS, Chaudhry SA, Ioannou M, Viskadourou M, Reventun P, Jakubek YA, Liggett LA, Laurie C, Broome JG, Khan A, Taylor KD, Guo X, Peyser PA, Boerwinkle E, Chami N, Kenny EE, Loos RJ, Psaty BM, Tracy RP, Brody JA, Yun JH, Cho MH, Vasan RS, Kardia SL, Smith JA, Raffield LM, Bidulescu A, O'Brien EC, de Andrade M, Rotter JI, Rich SS, Tracy RP, Chen YI, Gu CC, Hsiung CA, Kooperberg C, Haring B, Nassir R, Mathias R, Reiner A, Sankaran VG, Lowenstein CJ, Blackwell TW, Abecasis GR, Smith AV, Kang HM, Natarajan P, Jaiswal S, Bick A, Post WS, Scheet P, Auer P, Karantanos T, Battle A, Arvanitis M) Nat Commun 2025 Oct 16;16(1):9194 3 Citations |
| 1 | Driver mutation zygosity is a critical factor in predicting clonal hematopoiesis transformation risk. (Kishtagari A, Khan MAW, Li Y, Vlasschaert C, Marneni N, Silver AJ, von Beck K, Spaulding T, Stockton S, Snider C, Sochacki A, Dorand D, Mack TM, Ferrell PB Jr, Xu Y, Bejan CA, Savona MR, Bick AG) Blood Cancer J 2024 Jan 15;14(1):6 8 Citations |
| 1 | Naturally occurring point mutation Cys460Trp located in the I-EGF1 domain of integrin β3 alters the binding of some anti-HPA-1a antibodies. (Holzwarth ST, Bayat B, Zhu J, Phuangtham R, Fischer L, Boeckelmann D, Röder L, Berghöfer H, Schmidt S, Bein G, Santoso S) Transfusion 2020 Sep;60(9):2097-2107 9 Citations |
| 2 | Disruption of the E. coli LptC dimerization interface and characterization of lipopolysaccharide and LptA binding to monomeric LptC. (Schultz KM, Fischer MA, Noey EL, Klug CS) Protein Sci 2018 Aug;27(8):1407-1417 12 Citations |
| 1 | Cutting Edge: Check Your Mice-A Point Mutation in the Ncr1 Locus Identified in CD45.1 Congenic Mice with Consequences in Mouse Susceptibility to Infection. (Jang Y, Gerbec ZJ, Won T, Choi B, Podsiad A, B Moore B, Malarkannan S, Laouar Y) J Immunol 2018 Mar 15;200(6):1982-1987 28 Citations |
| 1 | Structural and Kinetic Studies of Asp632 Mutants and Fully Reduced NADPH-Cytochrome P450 Oxidoreductase Define the Role of Asp632 Loop Dynamics in the Control of NADPH Binding and Hydride Transfer. (Xia C, Rwere F, Im S, Shen AL, Waskell L, Kim JP) Biochemistry 2018 Feb 13;57(6):945-962 17 Citations |
| 1 | Severe neonatal alloimmune thrombocytopenia caused by maternal sensitization against a new low-frequency alloantigen (Domb ) located on platelet glycoprotein IIIa. (Sullivan MJ, Kuhlmann R, Peterson JA, Curtis BR) Transfusion 2017 Jul;57(7):1847-1848 7 Citations |
| 1 | Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients. (Anandalakshmi V, Murugan E, Leng EGT, Ting LW, Chaurasia SS, Yamazaki T, Nagashima T, George BL, Peh GSL, Pervushin K, Lakshminarayanan R, Mehta JS) Biochem J 2017 May 09;474(10):1705-1725 18 Citations |
| 1 | Mutants of Cytochrome P450 Reductase Lacking Either Gly-141 or Gly-143 Destabilize Its FMN Semiquinone. (Rwere F, Xia C, Im S, Haque MM, Stuehr DJ, Waskell L, Kim JJ) J Biol Chem 2016 Jul 08;291(28):14639-61 25 Citations |
| 1 | Spa47 is an oligomerization-activated type three secretion system (T3SS) ATPase from Shigella flexneri. (Burgess JL, Jones HB, Kumar P, Toth RT 4th, Middaugh CR, Antony E, Dickenson NE) Protein Sci 2016 May;25(5):1037-48 21 Citations |
| 1 | The Functional Significance of Posttranslational Modifications on Polo-Like Kinase 1 Revealed by Chemical Genetic Complementation. (Lasek AL, McPherson BM, Trueman NG, Burkard ME) PLoS One 2016;11(2):e0150225 13 Citations |
| 2 | Examination of Glycosaminoglycan Binding Sites on the XCL1 Dimer. (Fox JC, Tyler RC, Peterson FC, Dyer DP, Zhang F, Linhardt RJ, Handel TM, Volkman BF) Biochemistry 2016 Mar 01;55(8):1214-25 18 Citations |
| 1 | Neurite Aggregation and Calcium Dysfunction in iPSC-Derived Sensory Neurons with Parkinson's Disease-Related LRRK2 G2019S Mutation. (Schwab AJ, Ebert AD) Stem Cell Reports 2015 Dec 08;5(6):1039-1052 79 Citations |
| 4 | Crystal Structure and Functional Analyses of the Lectin Domain of Glucosidase II: Insights into Oligomannose Recognition. (Olson LJ, Orsi R, Peterson FC, Parodi AJ, Kim JJ, D'Alessio C, Dahms NM) Biochemistry 2015 Jul 07;54(26):4097-111 14 Citations |
| 1 | Intrinsic disorder drives N-terminal ubiquitination by Ube2w. (Vittal V, Shi L, Wenzel DM, Scaglione KM, Duncan ED, Basrur V, Elenitoba-Johnson KS, Baker D, Paulson HL, Brzovic PS, Klevit RE) Nat Chem Biol 2015 Jan;11(1):83-9 69 Citations |
| 1 | Lack of cathelicidin processing in Papillon-Lefèvre syndrome patients reveals essential role of LL-37 in periodontal homeostasis. (Eick S, Puklo M, Adamowicz K, Kantyka T, Hiemstra P, Stennicke H, Guentsch A, Schacher B, Eickholz P, Potempa J) Orphanet J Rare Dis 2014 Sep 27;9:148 41 Citations |
| 1 | Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib. (Woyach JA, Furman RR, Liu TM, Ozer HG, Zapatka M, Ruppert AS, Xue L, Li DH, Steggerda SM, Versele M, Dave SS, Zhang J, Yilmaz AS, Jaglowski SM, Blum KA, Lozanski A, Lozanski G, James DF, Barrientos JC, Lichter P, Stilgenbauer S, Buggy JJ, Chang BY, Johnson AJ, Byrd JC) N Engl J Med 2014 Jun 12;370(24):2286-94 1161 Citations |
| 1 | A gain-of-function voltage-gated sodium channel 1.8 mutation drives intense hyperexcitability of A- and C-fiber neurons. (Garrison SR, Weyer AD, Barabas ME, Beutler BA, Stucky CL) Pain 2014 May;155(5):896-905 39 Citations |
| 3 | Disruption of LptA oligomerization and affinity of the LptA-LptC interaction. (Schultz KM, Feix JB, Klug CS) Protein Sci 2013 Nov;22(11):1639-45 31 Citations |
| 4 | Identification of the major ubiquitin-binding domain of the Pseudomonas aeruginosa ExoU A2 phospholipase. (Anderson DM, Feix JB, Monroe AL, Peterson FC, Volkman BF, Haas AL, Frank DW) J Biol Chem 2013 Sep 13;288(37):26741-52 28 Citations |
| 1 | Enhancing the protective immune response against botulism. (Przedpelski A, Tepp WH, Kroken AR, Fu Z, Kim JJ, Johnson EA, Barbieri JT) Infect Immun 2013 Jul;81(7):2638-44 23 Citations |
| 1 | Distinct 3-O-sulfated heparan sulfate modification patterns are required for kal-1-dependent neurite branching in a context-dependent manner in Caenorhabditis elegans. (Tecle E, Diaz-Balzac CA, Bülow HE) G3 (Bethesda) 2013 Mar;3(3):541-52 35 Citations |
| 2 | Unfolding of the C-terminal domain of the J-protein Zuo1 releases autoinhibition and activates Pdr1-dependent transcription. (Ducett JK, Peterson FC, Hoover LA, Prunuske AJ, Volkman BF, Craig EA) J Mol Biol 2013 Jan 09;425(1):19-31 35 Citations |
| 1 | MED25 is a mediator component of HNF4α-driven transcription leading to insulin secretion in pancreatic beta-cells. (Han EH, Rha GB, Chi YI) PLoS One 2012;7(8):e44007 15 Citations |
| 1 | Interaction of human immunodeficiency virus type 1 Vif with APOBEC3G is not dependent on serine/threonine phosphorylation status. (Kopietz F, Jaguva Vasudevan AA, Krämer M, Muckenfuss H, Sanzenbacher R, Cichutek K, Flory E, Münk C) J Gen Virol 2012 Nov;93(Pt 11):2425-2430 4 Citations |
| 1 | The feed-forward loop between YB-1 and MYC is essential for multiple myeloma cell survival. (Bommert KS, Effenberger M, Leich E, Küspert M, Murphy D, Langer C, Moll R, Janz S, Mottok A, Weissbach S, Rosenwald A, Bargou R, Bommert K) Leukemia 2013 Feb;27(2):441-50 50 Citations |
| 1 | Maternal topoisomerase II alpha, not topoisomerase II beta, enables embryonic development of zebrafish top2a-/- mutants. (Sapetto-Rebow B, McLoughlin SC, O'Shea LC, O'Leary O, Willer JR, Alvarez Y, Collery R, O'Sullivan J, Van Eeden F, Hensey C, Kennedy BN) BMC Dev Biol 2011 Nov 23;11:71 19 Citations |
| 1 | Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. (Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH) Hum Mol Genet 2012 Feb 15;21(4):811-25 55 Citations |
| 1 | Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure. (Goh V, Helbling D, Biank V, Jarzembowski J, Dimmock D) J Pediatr Gastroenterol Nutr 2012 Feb;54(2):291-4 37 Citations |
| 1 | Thermodynamic analysis of mutant lac repressors. (Daber R, Sochor MA, Lewis M) J Mol Biol 2011 May 27;409(1):76-87 30 Citations |
| 2 | Effects of the L511P and D512G mutations on the Escherichia coli ABC transporter MsbA. (Schultz KM, Merten JA, Klug CS) Biochemistry 2011 Apr 05;50(13):2594-602 16 Citations |
| 2 | Allele-specific tumor spectrum in pten knockin mice. (Wang H, Karikomi M, Naidu S, Rajmohan R, Caserta E, Chen HZ, Rawahneh M, Moffitt J, Stephens JA, Fernandez SA, Weinstein M, Wang D, Sadee W, La Perle K, Stromberg P, Rosol TJ, Eng C, Ostrowski MC, Leone G) Proc Natl Acad Sci U S A 2010 Mar 16;107(11):5142-7 60 Citations |
| 1 | Inhibition of a viral enzyme by a small-molecule dimer disruptor. (Shahian T, Lee GM, Lazic A, Arnold LA, Velusamy P, Roels CM, Guy RK, Craik CS) Nat Chem Biol 2009 Sep;5(9):640-6 74 Citations |
| 1 | S156C mutation in tissue inhibitor of metalloproteinases-3 induces increased angiogenesis. (Qi JH, Dai G, Luthert P, Chaurasia S, Hollyfield J, Weber BH, Stöhr H, Anand-Apte B) J Biol Chem 2009 Jul 24;284(30):19927-36 42 Citations |
| 1 | Requirement of TCTG(G/C) Direct Repeats and Overlapping GATA Site for Maintaining the Cardiac-Specific Expression of Cardiac troponin T in Developing and Adult Mice. (Harlan SM, Reiter RS, Sigmund CD, Lin JL, Lin JJ) Anat Rec (Hoboken) 2008 Dec;291(12):1574-86 6 Citations |
| 1 | Regulation of caveolin-1 membrane trafficking by the Na/K-ATPase. (Cai T, Wang H, Chen Y, Liu L, Gunning WT, Quintas LE, Xie ZJ) J Cell Biol 2008 Sep 22;182(6):1153-69 109 Citations |
| 1 | Fibrinogen Hershey IV: a novel dysfibrinogen with a gammaV411I mutation in the integrin alpha(IIb)beta(3) binding site. (Flood VH, Al-Mondhiry HA, Rein CM, Alexander KS, Lovely RS, Shackleton KM, David LL, Farrell DH) Thromb Haemost 2008 Jun;99(6):1008-12 7 Citations |
| 1 | Substrate recognition of VAMP-2 by botulinum neurotoxin B and tetanus neurotoxin. (Chen S, Hall C, Barbieri JT) J Biol Chem 2008 Jul 25;283(30):21153-9 66 Citations |
| 1 | GATA4 sequence variants in patients with congenital heart disease. (Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E) J Med Genet 2007 Dec;44(12):779-83 190 Citations |
| 1 | Prognostic interaction between thrombocytosis and JAK2 V617F mutation in the WHO subcategories of myelodysplastic/myeloproliferative disease-unclassifiable and refractory anemia with ringed sideroblasts and marked thrombocytosis. (Atallah E, Nussenzveig R, Yin CC, Bueso-Ramos C, Tam C, Manshouri T, Pierce S, Kantarjian H, Verstovsek S) Leukemia 2008 Jun;22(6):1295-8 29 Citations |
| 1 | Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants. (Piana S, Laio A, Marinelli F, Van Troys M, Bourry D, Ampe C, Martins JC) J Mol Biol 2008 Jan 11;375(2):460-70 44 Citations |
| 1 | Fetal gene defects precipitate platelet-mediated pregnancy failure in factor V Leiden mothers. (Sood R, Zogg M, Westrick RJ, Guo YH, Kerschen EJ, Girardi G, Salmon JE, Coughlin SR, Weiler H) J Exp Med 2007 May 14;204(5):1049-56 38 Citations |
| 1 | Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines. (Subramanian VS, Marchant JS, Said HM) Clin Sci (Lond) 2007 Jul;113(2):93-102 16 Citations |
| 1 | Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. (Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, Guay-Woodford L, Harris P, Heller T, Ingelfinger J, Kaskel F, Kleta R, LaRusso NF, Mohan P, Pazour GJ, Shneider BL, Torres VE, Wilson P, Zak C, Zhou J, Gahl WA) J Pediatr 2006 Aug;149(2):159-64 88 Citations |
| 1 | Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. (Field JJ, Mason PJ, An P, Kasai Y, McLellan M, Jaeger S, Barnes YJ, King AA, Bessler M, Wilson DB) J Pediatr Hematol Oncol 2006 Jul;28(7):450-3 27 Citations |
| 1 | Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. (Subramanian VS, Marchant JS, Said HM) Am J Physiol Cell Physiol 2006 Nov;291(5):C851-9 74 Citations |
| 1 | Co-activation of atrial natriuretic factor promoter by Tip60 and serum response factor. (Kim MS, Merlo X, Wilson C, Lough J) J Biol Chem 2006 Jun 02;281(22):15082-9 14 Citations |
| 1 | Factor V Leiden and hepatic artery thrombosis after liver transplantation. (Dunn TB, Linden MA, Vercellotti GM, Gruessner RW) Clin Transplant 2006;20(1):132-5 16 Citations |
| 1 | Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP. (Donfack J, Buchinsky FJ, Derkay CS, Steinberg BM, Choi SS, Conley SF, Meyer CM 3rd, McClay JE, Campisi P, Hu FZ, Preston RA, Abramson AL, Ehrlich GD, Post JC) Int J Pediatr Otorhinolaryngol 2006 Jul;70(7):1235-40 4 Citations |
| 1 | Novel leptin receptor mutation in NOD/LtJ mice suppresses type 1 diabetes progression: II. Immunologic analysis. (Lee CH, Chen YG, Chen J, Reifsnyder PC, Serreze DV, Clare-Salzler M, Rodriguez M, Wasserfall C, Atkinson MA, Leiter EH) Diabetes 2006 Jan;55(1):171-8 31 Citations |
| 1 | Crystal structures of two bacterial 3-hydroxy-3-methylglutaryl-CoA lyases suggest a common catalytic mechanism among a family of TIM barrel metalloenzymes cleaving carbon-carbon bonds. (Forouhar F, Hussain M, Farid R, Benach J, Abashidze M, Edstrom WC, Vorobiev SM, Xiao R, Acton TB, Fu Z, Kim JJ, Miziorko HM, Montelione GT, Hunt JF) J Biol Chem 2006 Mar 17;281(11):7533-45 28 Citations |
| 1 | Spectroscopic and thermodynamic characterization of the E151D and E151A altered leucine aminopeptidases from Aeromonas proteolytica. (Bzymek KP, Swierczek SI, Bennett B, Holz RC) Inorg Chem 2005 Nov 14;44(23):8574-80 15 Citations |
| 1 | A murine model of deep vein thrombosis: characterization and validation in transgenic mice. (Cooley BC, Szema L, Chen CY, Schwab JP, Schmeling G) Thromb Haemost 2005 Sep;94(3):498-503 39 Citations |
| 1 | Insertion of c-Myc into Igh induces B-cell and plasma-cell neoplasms in mice. (Park SS, Kim JS, Tessarollo L, Owens JD, Peng L, Han SS, Tae Chung S, Torrey TA, Cheung WC, Polakiewicz RD, McNeil N, Ried T, Mushinski JF, Morse HC 3rd, Janz S) Cancer Res 2005 Feb 15;65(4):1306-15 104 Citations |
| 1 | Functional analysis of the rat cytochrome c oxidase subunit 6A1 promoter in primary neurons. (Ongwijitwat S, Wong-Riley MT) Gene 2004 Aug 04;337:163-71 24 Citations |
| 1 | Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. (Cooper EM, Hudson AW, Amos J, Wagstaff J, Howley PM) J Biol Chem 2004 Sep 24;279(39):41208-17 94 Citations |
| 1 | A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. (Jimenez C, Dang GT, Schultz PN, El-Naggar A, Shapiro S, Barnes EA, Evans DB, Vassilopoulou-Sellin R, Gagel RF, Cote GJ, Hoff AO) J Clin Endocrinol Metab 2004 Jul;89(7):3521-6 41 Citations |
| 1 | Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss. (Erbe CB, Harris KC, Runge-Samuelson CL, Flanary VA, Wackym PA) Laryngoscope 2004 Apr;114(4):607-11 30 Citations |
| 1 | Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations. (Suchi M, MacMullen C, Thornton PS, Ganguly A, Stanley CA, Ruchelli ED) Pediatr Dev Pathol 2003;6(4):322-33 74 Citations |
| 1 | Mutations in and near the second calcium-binding domain of integrin alphaIIb affect the structure and function of integrin alphaIIbbeta3. (Gidwitz S, Temple B, White GC 2nd) Biochem J 2004 Apr 15;379(Pt 2):449-59 5 Citations |
| 1 | RNA-protein interactions promote asymmetric sorting of the ASH1 mRNA ribonucleoprotein complex. (Gonsalvez GB, Lehmann KA, Ho DK, Stanitsa ES, Williamson JR, Long RM) RNA 2003 Nov;9(11):1383-99 34 Citations |
| 1 | Survival advantage associated with heterozygous factor V Leiden mutation in patients with severe sepsis and in mouse endotoxemia. (Kerlin BA, Yan SB, Isermann BH, Brandt JT, Sood R, Basson BR, Joyce DE, Weiler H, Dhainaut JF) Blood 2003 Nov 01;102(9):3085-92 147 Citations |
| 1 | Efficiency of chimeraplast gene targeting by direct nuclear injection using a GFP recovery assay. (Tran ND, Liu X, Yan Z, Abbote D, Jiang Q, Kmiec EB, Sigmund CD, Engelhardt JF) Mol Ther 2003 Feb;7(2):248-53 39 Citations |
| 1 | Critical independent regions in the VWF propeptide and mature VWF that enable normal VWF storage. (Haberichter SL, Jacobi P, Montgomery RR) Blood 2003 Feb 15;101(4):1384-91 49 Citations |
| 1 | Genomic instability in mouse Burkitt lymphoma is dominated by illegitimate genetic recombinations, not point mutations. (Rockwood LD, Torrey TA, Kim JS, Coleman AE, Kovalchuk AL, Xiang S, Ried T, Morse HC 3rd, Janz S) Oncogene 2002 Oct 17;21(47):7235-40 24 Citations |
| 1 | Moderate G6PD deficiency increases mutation rates in the brain of mice. (Felix K, Rockwood LD, Pretsch W, Nair J, Bartsch H, Bornkamm GW, Janz S) Free Radic Biol Med 2002 Apr 01;32(7):663-73 21 Citations |
| 1 | Bietti crystalline retinopathy and juvenile retinoschisis in a family with a novel RS1 mutation. (Weinberg DV, Sieving PA, Bingham EL, Jampol LM, Mets MB) Arch Ophthalmol 2001 Nov;119(11):1719-21 5 Citations |
| 1 | HIF-1alpha binding to VHL is regulated by stimulus-sensitive proline hydroxylation. (Yu F, White SB, Zhao Q, Lee FS) Proc Natl Acad Sci U S A 2001 Aug 14;98(17):9630-5 755 Citations |
| 1 | Alanine-scanning mutagenesis of plasmatocyte spreading peptide identifies critical residues for biological activity. (Clark KD, Volkman BF, Thoetkiattikul H, King D, Hayakawa Y, Strand MR) J Biol Chem 2001 May 25;276(21):18491-6 27 Citations |
| 2 | A multi-site study for detection of the factor V (Leiden) mutation from genomic DNA using a homogeneous invader microtiter plate fluorescence resonance energy transfer (FRET) assay. (Ledford M, Friedman KD, Hessner MJ, Moehlenkamp C, Williams TM, Larson RS) J Mol Diagn 2000 May;2(2):97-104 41 Citations |
| 1 | Rieger syndrome: a clinical, molecular, and biochemical analysis. (Amendt BA, Semina EV, Alward WL) Cell Mol Life Sci 2000 Oct;57(11):1652-66 106 Citations |
| 1 | De novo CD5+ diffuse large B-cell lymphomas. A heterogeneous group containing an unusual form of splenic lymphoma. (Kroft SH, Howard MS, Picker LJ, Ansari MQ, Aquino DB, McKenna RW) Am J Clin Pathol 2000 Oct;114(4):523-33 53 Citations |
| 1 | Identification of in vivo mutations in exon 5 of the human HPRT gene in a set of pooled T-cell mutants by constant denaturant capillary electrophoresis (CDCE). (Fält S, Kumar R, Wennborg A, Tomita-Mitchell A, Thilly WG, Lambert B) Mutat Res 2000 Jul 20;452(1):57-66 1 Citation |
| 1 | Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. (Hiriyanna KT, Bingham EL, Yashar BM, Ayyagari R, Fishman G, Small KW, Weinberg DV, Weleber RG, Lewis RA, Andreasson S, Richards JE, Sieving PA) Hum Mutat 1999;14(5):423-7 44 Citations |
| 1 | ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. (Nichols WC, Terry VH, Wheatley MA, Yang A, Zivelin A, Ciavarella N, Stefanile C, Matsushita T, Saito H, de Bosch NB, Ruiz-Saez A, Torres A, Thompson AR, Feinstein DI, White GC, Negrier C, Vinciguerra C, Aktan M, Kaufman RJ, Ginsburg D, Seligsohn U) Blood 1999 Apr 01;93(7):2261-6 77 Citations |
| 1 | The nuclear factor-kappa B RelA transcription factor is constitutively activated in human pancreatic adenocarcinoma cells. (Wang W, Abbruzzese JL, Evans DB, Larry L, Cleary KR, Chiao PJ) Clin Cancer Res 1999 Jan;5(1):119-27 661 Citations |
| 1 | Functionally active catalytic domain is essential for guanylyl cyclase-linked receptor mediated inhibition of human aldosterone synthesis. (Olson LJ, Ho BY, Cashdollar LW, Drewett JG) Mol Pharmacol 1998 Nov;54(5):761-9 10 Citations |
| 2 | Molecular metastases in stage I pancreatic cancer: improved survival with adjuvant chemoradiation. (Demeure MJ, Doffek KM, Komorowski RA, Redlich PN, Zhu YR, Erickson BA, Ritch PS, Pitt HA, Wilson SD) Surgery 1998 Oct;124(4):663-9 49 Citations |
| 1 | Point mutation in trkB causes loss of NT4-dependent neurons without major effects on diverse BDNF responses. (Minichiello L, Casagranda F, Tatche RS, Stucky CL, Postigo A, Lewin GR, Davies AM, Klein R) Neuron 1998 Aug;21(2):335-45 169 Citations |
| 1 | Mutations in Drosophila enabled and rescue by human vasodilator-stimulated phosphoprotein (VASP) indicate important functional roles for Ena/VASP homology domain 1 (EVH1) and EVH2 domains. (Ahern-Djamali SM, Comer AR, Bachmann C, Kastenmeier AS, Reddy SK, Beckerle MC, Walter U, Hoffmann FM) Mol Biol Cell 1998 Aug;9(8):2157-71 99 Citations |
| 1 | Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. (Lidral AC, Romitti PA, Basart AM, Doetschman T, Leysens NJ, Daack-Hirsch S, Semina EV, Johnson LR, Machida J, Burds A, Parnell TJ, Rubenstein JL, Murray JC) Am J Hum Genet 1998 Aug;63(2):557-68 268 Citations |
| 1 | A single amino acid change in the yeast retrotransposon Ty5 abolishes targeting to silent chromatin. (Gai X, Voytas DF) Mol Cell 1998 Jun;1(7):1051-5 48 Citations |
| 1 | Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. (Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA) Hum Mol Genet 1998 Jul;7(7):1113-7 121 Citations |
| 1 | Implications of a common polymorphism in intron 12 of the dystrophin gene for deletion detection by multiplex PCR. (Chen B, North PE, Parham DM) Gene 1998 Mar 16;209(1-2):211-7 2 Citations |
| 1 | Distinct mechanisms control the accumulation of the Rb-related p107 and p130 proteins during cell growth. (Smith EJ, Leone G, Nevins JR) Cell Growth Differ 1998 Apr;9(4):297-303 86 Citations |
| 2 | Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. (Alward WL, Semina EV, Kalenak JW, Héon E, Sheth BP, Stone EM, Murray JC) Am J Ophthalmol 1998 Jan;125(1):98-100 129 Citations |
| 1 | Giant platelet disorder in a patient with type 2B von Willebrand's disease. (Moll S, Lazarowski AR, White GC 2nd) Am J Hematol 1998 Jan;57(1):62-7 13 Citations |
| 1 | Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders. (Bonné-Tamir B, Nystuen A, Seroussi E, Kalinsky H, Kwitek-Black AE, Korostishevsky M, Adato A, Sheffield VC) Am J Phys Anthropol 1997 Oct;104(2):193-200 12 Citations |
| 1 | Allelic origin of the abnormal prion protein isoform in familial prion diseases. (Chen SG, Parchi P, Brown P, Capellari S, Zou W, Cochran EJ, Vnencak-Jones CL, Julien J, Vital C, Mikol J, Lugaresi E, Autilio-Gambetti L, Gambetti P) Nat Med 1997 Sep;3(9):1009-15 89 Citations |
| 1 | Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. (Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y) Am J Hum Genet 1997 Mar;60(3):525-39 59 Citations |
| 2 | E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (Kirby-Keyser L, Porter CC, Donohoue PA) Hum Mutat 1997;9(2):181-2 12 Citations |
| 1 | The role of Glu 57 in the mechanism of the Escherichia coli MutT enzyme by mutagenesis and heteronuclear NMR. (Lin J, Abeygunawardana C, Frick DN, Bessman MJ, Mildvan AS) Biochemistry 1996 May 28;35(21):6715-26 52 Citations |
| 1 | Molecular diagnosis of exocrine pancreatic cancer using a percutaneous technique. (Evans DB, Frazier ML, Charnsangavej C, Katz RL, Larry L, Abbruzzese JL) Ann Surg Oncol 1996 May;3(3):241-6 23 Citations |
| 1 | Adenovirus E1A proteins regulate phosphoenolpyruvate carboxykinase gene transcription through multiple mechanisms. (Klemm DJ, Colton LA, Ryan S, Routes JM) J Biol Chem 1996 Apr 05;271(14):8082-8 10 Citations |
| 1 | The defective interaction between von Willebrand factor and factor VIII in a patient with type 1 von Willebrand disease is caused by substitution of Arg19 and His54 in mature von Willebrand factor. (Kroner PA, Foster PA, Fahs SA, Montgomery RR) Blood 1996 Feb 01;87(3):1013-21 56 Citations |
| 1 | Pancreatic adenocarcinoma cell line, MDAPanc-28, with features of both acinar and ductal cells. (Frazier ML, Fernández E, de Llorens R, Brown NM, Pathak S, Cleary KR, Abbruzzese JL, Berry K, Olive M, Le Maistre A, Evans DB) Int J Pancreatol 1996 Feb;19(1):31-8 30 Citations |
| 1 | Mutation of serine 90 to glutamic acid mimics phosphorylation of bovine prolactin. (Maciejewski PM, Peterson FC, Anderson PJ, Brooks CL) J Biol Chem 1995 Nov 17;270(46):27661-5 62 Citations |
| 1 | Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A. (Gagel RF, Cote GJ, Martins Bugalho MJ, Boyd AE 3rd, Cummings T, Goepfert H, Evans DB, Cangir A, Khorana S, Schultz PN) J Intern Med 1995 Oct;238(4):333-41 68 Citations |
| 1 | Identification and characterization of the orf virus type I topoisomerase. (Klemperer N, Lyttle DJ, Tauzin D, Traktman P, Robinson AJ) Virology 1995 Jan 10;206(1):203-15 27 Citations |
| 1 | Role of histidine 35 of the S1 subunit of pertussis toxin in the ADP-ribosylation of transducin. (Xu Y, Barbançon-Finck V, Barbieri JT) J Biol Chem 1994 Apr 01;269(13):9993-9 20 Citations |
| 1 | Early mutational activation of the c-Ki-ras oncogene in endometrial carcinoma. (Duggan BD, Felix JC, Muderspach LI, Tsao JL, Shibata DK) Cancer Res 1994 Mar 15;54(6):1604-7 87 Citations |
| 1 | NPXY motif in the insulin-like growth factor-I receptor is required for efficient ligand-mediated receptor internalization and biological signaling. (Hsu D, Knudson PE, Zapf A, Rolband GC, Olefsky JM) Endocrinology 1994 Feb;134(2):744-50 50 Citations |
| 1 | Hereditary and acquired defects in signaling through the hormone-receptor-G protein complex. (Raymond JR) Am J Physiol 1994 Feb;266(2 Pt 2):F163-74 29 Citations |
| 1 | A denaturing gradient gel electrophoresis assay for sensitive detection of p53 mutations. (Beck JS, Kwitek AE, Cogen PH, Metzger AK, Duyk GM, Sheffield VC) Hum Genet 1993 Mar;91(1):25-30 41 Citations |
