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Items: 1 to 50 of 110

1.

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y, Pesaran T, Chamberlin A, Fenwick RB, Li S, Gau CL, Chao EC, Lu HM, Black MH, Qian D.

Sci Rep. 2019 Sep 4;9(1):12752. doi: 10.1038/s41598-019-49224-8.

2.

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.

Chamberlin A, Huether R, Machado AZ, Groden M, Liu HM, Upadhyay K, O V, Gomes NL, Lerario AM, Nishi MY, Costa EMF, Mendonca B, Domenice S, Velasco J, Loke J, Ostrer H.

Hum Mol Genet. 2019 May 15;28(10):1620-1628. doi: 10.1093/hmg/ddz002.

PMID:
30608580
3.

Potential Biological Control of Schistosomiasis by Fishes in the Lower Senegal River Basin.

Arostegui MC, Wood CL, Jones IJ, Chamberlin AJ, Jouanard N, Faye DS, Kuris AM, Riveau G, De Leo GA, Sokolow SH.

Am J Trop Med Hyg. 2019 Jan;100(1):117-126. doi: 10.4269/ajtmh.18-0469.

4.

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.

Slone J, Peng Y, Chamberlin A, Harris B, Kaylor J, McDonald MT, Lemmon M, El-Dairi MA, Tchapyjnikov D, Gonzalez-Krellwitz LA, Sellars EA, McConkie-Rosell A, Reinholdt LG, Huang T.

J Hum Genet. 2018 Dec;63(12):1211-1222. doi: 10.1038/s10038-018-0515-y. Epub 2018 Sep 25.

5.

Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.

Richardson ME, Chong H, Mu W, Conner BR, Hsuan V, Willett S, Lam S, Tsai P, Pesaran T, Chamberlin AC, Park MS, Gray P, Karam R, Elliott A.

Genet Med. 2019 Jul;21(7):1669. doi: 10.1038/s41436-018-0276-1.

PMID:
30127414
6.

DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.

Richardson ME, Chong H, Mu W, Conner BR, Hsuan V, Willett S, Lam S, Tsai P, Pesaran T, Chamberlin AC, Park MS, Gray P, Karam R, Elliott A.

Genet Med. 2019 Mar;21(3):683-693. doi: 10.1038/s41436-018-0092-7. Epub 2018 Jul 28. Erratum in: Genet Med. 2018 Aug 20;:.

PMID:
30054569
7.

Academic-Related Factors and Emotional Eating in Adolescents.

Chamberlin A, Nguyen-Rodriguez S, Gray VB, Reiboldt W, Peterson C, Spruijt-Metz D.

J Sch Health. 2018 Jul;88(7):493-499. doi: 10.1111/josh.12638.

8.

Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.

Sherrill JD, Kc K, Wang X, Wen T, Chamberlin A, Stucke EM, Collins MH, Abonia JP, Peng Y, Wu Q, Putnam PE, Dexheimer PJ, Aronow BJ, Kottyan LC, Kaufman KM, Harley JB, Huang T, Rothenberg ME.

JCI Insight. 2018 Apr 19;3(8). pii: 99922. doi: 10.1172/jci.insight.99922. eCollection 2018 Apr 19.

9.

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Peng Y, Shinde DN, Alexander Valencia C, Mo JS, Rosenfeld J, Cho MT, Chamberlin A, Li Z, Liu J, Gui B.

Hum Mol Genet. 2018 Jun 15;27(12):2224. doi: 10.1093/hmg/ddy072. No abstract available.

10.

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sørensen KP, Helbig KL, Lessel D, Abou Jamra R.

Am J Hum Genet. 2017 Dec 7;101(6):1013-1020. doi: 10.1016/j.ajhg.2017.11.004.

11.

Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome.

Powis Z, Chamberlin AC, Alamillo CL, Ceulemans S, Bird LM, Tang S.

Pediatr Dev Pathol. 2018 May-Jun;21(3):319-323. doi: 10.1177/1093526617698611. Epub 2017 Mar 23.

PMID:
29187032
12.

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T.

Hum Mol Genet. 2017 Dec 15;26(24):4937-4950. doi: 10.1093/hmg/ddx377. Erratum in: Hum Mol Genet. 2018 Jun 15;27(12):2224.

13.

Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.

Pesaran T, Karam R, Huether R, Li S, Farber-Katz S, Chamberlin A, Chong H, LaDuca H, Elliott A.

Int J Breast Cancer. 2016;2016:2469523. Epub 2016 Oct 16. Review.

14.

Molecular mechanism of Zn2+ inhibition of a voltage-gated proton channel.

Qiu F, Chamberlin A, Watkins BM, Ionescu A, Perez ME, Barro-Soria R, González C, Noskov SY, Larsson HP.

Proc Natl Acad Sci U S A. 2016 Oct 4;113(40):E5962-E5971. Epub 2016 Sep 19.

15.

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls L, Schüle R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR.

Ann Neurol. 2016 Oct;80(4). doi: 10.1002/ana.24762. Epub 2016 Sep 9.

16.

Post Mortem Diagnostic Exome Sequencing Identifies a de novo TUBB3 Alteration in a Newborn with Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome.

Powis Z, Chamberlin AC, Alamillo CL, Ceulemans S, Bird LM, Tang S.

Pediatr Dev Pathol. 2016 Aug 4. [Epub ahead of print]

PMID:
27490173
17.

Current state of theoretical and experimental studies of the voltage-dependent anion channel (VDAC).

Noskov SY, Rostovtseva TK, Chamberlin AC, Teijido O, Jiang W, Bezrukov SM.

Biochim Biophys Acta. 2016 Jul;1858(7 Pt B):1778-90. doi: 10.1016/j.bbamem.2016.02.026. Epub 2016 Mar 3. Review.

18.

Two-Dimensional Potentials of Mean Force of Nile Red in Intact and Damaged Model Bilayers. Application to Calculations of Fluorescence Spectra.

Singh G, Chamberlin AC, Zhekova HR, Noskov SY, Tieleman DP.

J Chem Theory Comput. 2016 Jan 12;12(1):364-71. doi: 10.1021/acs.jctc.5b00520. Epub 2015 Dec 4.

PMID:
26579726
19.

Structure-Based Inhibitor Design for Evaluation of a CYP3A4 Pharmacophore Model.

Kaur P, Chamberlin AR, Poulos TL, Sevrioukova IF.

J Med Chem. 2016 May 12;59(9):4210-20. doi: 10.1021/acs.jmedchem.5b01146. Epub 2015 Sep 24.

20.

A small molecule screen identifies a novel compound that induces a homeotic transformation in Hydra.

Glauber KM, Dana CE, Park SS, Colby DA, Noro Y, Fujisawa T, Chamberlin AR, Steele RE.

Development. 2015 Jun 1;142(11):2081. doi: 10.1242/dev.126235. No abstract available.

21.

Synthesis, molecular modeling, and biological evaluation of novel RAD51 inhibitors.

Zhu J, Chen H, Guo XE, Qiu XL, Hu CM, Chamberlin AR, Lee WH.

Eur J Med Chem. 2015;96:196-208. doi: 10.1016/j.ejmech.2015.04.021. Epub 2015 Apr 9.

22.

Mapping the gating and permeation pathways in the voltage-gated proton channel Hv1.

Chamberlin A, Qiu F, Wang Y, Noskov SY, Larsson HP.

J Mol Biol. 2015 Jan 16;427(1):131-45. doi: 10.1016/j.jmb.2014.11.018. Epub 2014 Dec 4.

23.

Acidification asymmetrically affects voltage-dependent anion channel implicating the involvement of salt bridges.

Teijido O, Rappaport SM, Chamberlin A, Noskov SY, Aguilella VM, Rostovtseva TK, Bezrukov SM.

J Biol Chem. 2014 Aug 22;289(34):23670-82. doi: 10.1074/jbc.M114.576314. Epub 2014 Jun 24.

24.

ASSESSING THE POTENTIAL EFFECTS OF FUNGICIDES ON NONTARGET GUT FUNGI (TRICHOMYCETES) AND THEIR ASSOCIATED LARVAL BLACK FLY HOSTS.

Wilson ER, Smalling KL, Reilly TJ, Gray E, Bond L, Steele L, Kandel P, Chamberlin A, Gause J, Reynolds N, Robertson I, Novak S, Feris K, White MM.

J Am Water Resour Assoc. 2014 Apr 1;50(2):420-433.

25.

Novel small molecules disrupting Hec1/Nek2 interaction ablate tumor progression by triggering Nek2 degradation through a death-trap mechanism.

Hu CM, Zhu J, Guo XE, Chen W, Qiu XL, Ngo B, Chien R, Wang YV, Tsai CY, Wu G, Kim Y, Lopez R, Chamberlin AR, Lee EY, Lee WH.

Oncogene. 2015 Mar 5;34(10):1220-30. doi: 10.1038/onc.2014.67. Epub 2014 Mar 24.

26.

Rehabilitating drug-induced long-QT promoters: in-silico design of hERG-neutral cisapride analogues with retained pharmacological activity.

Durdagi S, Randall T, Duff HJ, Chamberlin A, Noskov SY.

BMC Pharmacol Toxicol. 2014 Mar 8;15:14. doi: 10.1186/2050-6511-15-14.

27.

Molecular strategies to achieve selective conductance in NaK channel variants.

Wang Y, Chamberlin AC, Noskov SY.

J Phys Chem B. 2014 Feb 27;118(8):2041-9. doi: 10.1021/jp4107537. Epub 2014 Feb 18.

PMID:
24506283
28.

Hydrophobic plug functions as a gate in voltage-gated proton channels.

Chamberlin A, Qiu F, Rebolledo S, Wang Y, Noskov SY, Larsson HP.

Proc Natl Acad Sci U S A. 2014 Jan 14;111(2):E273-82. doi: 10.1073/pnas.1318018111. Epub 2013 Dec 30.

29.
30.

A small molecule screen identifies a novel compound that induces a homeotic transformation in Hydra.

Glauber KM, Dana CE, Park SS, Colby DA, Noro Y, Fujisawa T, Chamberlin AR, Steele RE.

Development. 2013 Dec;140(23):4788-96. doi: 10.1242/dev.094490. Erratum in: Development. 2015 Jun 1;142(11):2081.

31.

Patient education and care for peritoneal dialysis catheter placement: a quality improvement study.

Wong LP, Yamamoto KT, Reddy V, Cobb D, Chamberlin A, Pham H, Sun SJ, Mallareddy M, Saldivar M.

Perit Dial Int. 2014 Jan-Feb;34(1):12-23. doi: 10.3747/pdi.2012.00190. Epub 2013 Jul 1.

32.

A novel small molecule RAD51 inactivator overcomes imatinib-resistance in chronic myeloid leukaemia.

Zhu J, Zhou L, Wu G, Konig H, Lin X, Li G, Qiu XL, Chen CF, Hu CM, Goldblatt E, Bhatia R, Chamberlin AR, Chen PL, Lee WH.

EMBO Mol Med. 2013 Mar;5(3):353-65. doi: 10.1002/emmm.201201760. Epub 2013 Jan 22.

33.

Improving the Fmoc Solid Phase Synthesis of the Cyclic Hexapeptide Complement C5a Antagonist, PMX205.

Delisle Milton RC, Milton SC, Chamberlin AR.

Int J Pept Res Ther. 2011 Dec;17(4):337-342.

34.

Maintenance energy requirement determination of cats after spaying.

Mitsuhashi Y, Chamberlin AJ, Bigley KE, Bauer JE.

Br J Nutr. 2011 Oct;106 Suppl 1:S135-8. doi: 10.1017/S0007114511001899.

PMID:
22005410
35.

Unexpected depletion of plasma arachidonate and total protein in cats fed a low arachidonic acid diet due to peroxidation.

Chamberlin A, Mitsuhashi Y, Bigley K, Bauer JE.

Br J Nutr. 2011 Oct;106 Suppl 1:S131-4. doi: 10.1017/S0007114511001826.

PMID:
22005409
36.

Digital stereophotogrammetry as a new technique to quantify truncal deformity: a pilot study in persons with osteogenesis imperfecta.

Gabor LR, Chamberlin AP, Levy E, Perry MB, Cintas H, Paul SM.

Am J Phys Med Rehabil. 2011 Oct;90(10):844-50. doi: 10.1097/PHM.0b013e3182240c2c.

37.
38.

Benzoannelation stabilizes the d(xy)1 state of low-spin iron(III) porphyrinates.

Ikeue T, Handa M, Chamberlin A, Ghosh A, Ongayi O, Vicente MG, Ikezaki A, Nakamura M.

Inorg Chem. 2011 Apr 18;50(8):3567-81. doi: 10.1021/ic1024873. Epub 2011 Mar 16.

PMID:
21410230
39.

Iron porphyrin dications with neutral axial ligands: DFT calculations delineate similarities with heme protein compound II intermediates.

Chamberlin AC, Ikezaki A, Nakamura M, Ghosh A.

J Phys Chem B. 2011 Apr 7;115(13):3642-7. doi: 10.1021/jp111109e. Epub 2011 Mar 16.

PMID:
21410175
40.

Acyl-chain methyl distributions of liquid-ordered and -disordered membranes.

Mihailescu M, Vaswani RG, Jardón-Valadez E, Castro-Román F, Freites JA, Worcester DL, Chamberlin AR, Tobias DJ, White SH.

Biophys J. 2011 Mar 16;100(6):1455-62. doi: 10.1016/j.bpj.2011.01.035.

41.

Metabolic systems analysis to advance algal biotechnology.

Schmidt BJ, Lin-Schmidt X, Chamberlin A, Salehi-Ashtiani K, Papin JA.

Biotechnol J. 2010 Jul;5(7):660-70. doi: 10.1002/biot.201000129. Review.

PMID:
20665641
42.

Kaitocephalin antagonism of glutamate receptors expressed in Xenopus oocytes.

Limon A, Reyes-Ruiz JM, Vaswani RG, Chamberlin AR, Miledi R.

ACS Chem Neurosci. 2010 Mar 17;1(3):175-181.

43.

Reliability, validity, and precision of an active stereophotogrammetry system for three-dimensional evaluation of the human torso.

Paul SM, Chamberlin AP, Hatt C, Nayak AV, Danoff JV.

Med Eng Phys. 2009 Dec;31(10):1337-42. doi: 10.1016/j.medengphy.2009.08.011. Epub 2009 Oct 12.

44.

Modeling free energies of solvation in olive oil.

Chamberlin AC, Levitt DG, Cramer CJ, Truhlar DG.

Mol Pharm. 2008 Nov-Dec;5(6):1064-79.

45.

Consistent van der Waals radii for the whole main group.

Mantina M, Chamberlin AC, Valero R, Cramer CJ, Truhlar DG.

J Phys Chem A. 2009 May 14;113(19):5806-12. doi: 10.1021/jp8111556.

46.

Synthesis and biological evaluation of a series of novel inhibitor of Nek2/Hec1 analogues.

Qiu XL, Li G, Wu G, Zhu J, Zhou L, Chen PL, Chamberlin AR, Lee WH.

J Med Chem. 2009 Mar 26;52(6):1757-67. doi: 10.1021/jm8015969.

47.

Stereoselective synthesis of chiral IBR2 analogues.

Qiu XL, Zhu J, Wu G, Lee WH, Chamberlin AR.

J Org Chem. 2009 Mar 6;74(5):2018-27. doi: 10.1021/jo802607f.

PMID:
19191556
48.

Design, synthesis, and biological evaluation of a scaffold for iGluR ligands based on the structure of (-)-kaitocephalin.

Vaswani RG, Limon A, Reyes-Ruiz JM, Miledi R, Chamberlin AR.

Bioorg Med Chem Lett. 2009 Jan 1;19(1):132-5. doi: 10.1016/j.bmcl.2008.11.004. Epub 2008 Nov 6.

PMID:
19017555
49.

Performance of SM8 on a test to predict small-molecule solvation free energies.

Chamberlin AC, Cramer CJ, Truhlar DG.

J Phys Chem B. 2008 Jul 24;112(29):8651-5. doi: 10.1021/jp8028038. Epub 2008 Jun 26.

50.

Synthesis and pharmacological in vitro and in vivo profile of 3-oxo-1,1-diphenyl-tetrahydro-oxazolo[3,4-a]pyrazine-7-carboxylic acid 4-fluoro-benzylamide (SHA 68), a selective antagonist of the neuropeptide S receptor.

Okamura N, Habay SA, Zeng J, Chamberlin AR, Reinscheid RK.

J Pharmacol Exp Ther. 2008 Jun;325(3):893-901. doi: 10.1124/jpet.107.135103. Epub 2008 Mar 12.

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