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Items: 40

1.

Mitochondrial Dysfunction in Primary Ovarian Insufficiency.

Tiosano D, Mears JA, Buchner DA.

Endocrinology. 2019 Oct 1;160(10):2353-2366. doi: 10.1210/en.2019-00441. Review.

PMID:
31393557
2.

Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome.

Cohen M, Persky R, Stegemann R, Hernández-Ramírez LC, Zeltser D, Lodish MB, Chen A, Keil MF, Tatsi C, Faucz FR, Buchner DA, Stratakis CA, Tiosano D.

J Clin Endocrinol Metab. 2019 Oct 1;104(10):4676-4682. doi: 10.1210/jc.2019-00697.

3.

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA.

PLoS Genet. 2019 Apr 29;15(4):e1008088. doi: 10.1371/journal.pgen.1008088. eCollection 2019 Apr.

4.

Colon Cancer-Upregulated Long Non-Coding RNA lincDUSP Regulates Cell Cycle Genes and Potentiates Resistance to Apoptosis.

Forrest ME, Saiakhova A, Beard L, Buchner DA, Scacheri PC, LaFramboise T, Markowitz S, Khalil AM.

Sci Rep. 2018 May 9;8(1):7324. doi: 10.1038/s41598-018-25530-5.

5.

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.

Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Akdemir ZC, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA.

Hum Mol Genet. 2018 Jun 1;27(11):1913-1926. doi: 10.1093/hmg/ddy098.

6.

Widespread epistasis regulates glucose homeostasis and gene expression.

Chen A, Liu Y, Williams SM, Morris N, Buchner DA.

PLoS Genet. 2017 Sep 29;13(9):e1007025. doi: 10.1371/journal.pgen.1007025. eCollection 2017 Sep.

7.

Coordinated transcriptional control of adipocyte triglyceride lipase (Atgl) by transcription factors Sp1 and peroxisome proliferator-activated receptor γ (PPARγ) during adipocyte differentiation.

Roy D, Farabaugh KT, Wu J, Charrier A, Smas C, Hatzoglou M, Thirumurugan K, Buchner DA.

J Biol Chem. 2017 Sep 8;292(36):14827-14835. doi: 10.1074/jbc.M117.783043. Epub 2017 Jul 18.

8.

Zinc finger protein 407 overexpression upregulates PPAR target gene expression and improves glucose homeostasis in mice.

Charrier A, Wang L, Stephenson EJ, Ghanta SV, Ko CW, Croniger CM, Bridges D, Buchner DA.

Am J Physiol Endocrinol Metab. 2016 Nov 1;311(5):E869-E880. doi: 10.1152/ajpendo.00234.2016. Epub 2016 Sep 13.

9.

Contrasting genetic architectures in different mouse reference populations used for studying complex traits.

Buchner DA, Nadeau JH.

Genome Res. 2015 Jun;25(6):775-91. doi: 10.1101/gr.187450.114. Epub 2015 May 7. Review.

10.

Transgenerational inheritance of metabolic disease.

Stegemann R, Buchner DA.

Semin Cell Dev Biol. 2015 Jul;43:131-140. doi: 10.1016/j.semcdb.2015.04.007. Epub 2015 Apr 29. Review.

11.

Zinc finger protein 407 (ZFP407) regulates insulin-stimulated glucose uptake and glucose transporter 4 (Glut4) mRNA.

Buchner DA, Charrier A, Srinivasan E, Wang L, Paulsen MT, Ljungman M, Bridges D, Saltiel AR.

J Biol Chem. 2015 Mar 6;290(10):6376-86. doi: 10.1074/jbc.M114.623736. Epub 2015 Jan 16.

12.

Fat depot-specific gene signature and ECM remodeling of Sca1(high) adipose-derived stem cells.

Tokunaga M, Inoue M, Jiang Y, Barnes RH 2nd, Buchner DA, Chun TH.

Matrix Biol. 2014 Jun;36:28-38. doi: 10.1016/j.matbio.2014.03.005. Epub 2014 Apr 13.

13.

Maternal nutrition induces pervasive gene expression changes but no detectable DNA methylation differences in the liver of adult offspring.

Cannon MV, Buchner DA, Hester J, Miller H, Sehayek E, Nadeau JH, Serre D.

PLoS One. 2014 Mar 3;9(3):e90335. doi: 10.1371/journal.pone.0090335. eCollection 2014.

14.

Thrombospondin 1 mediates high-fat diet-induced muscle fibrosis and insulin resistance in male mice.

Inoue M, Jiang Y, Barnes RH 2nd, Tokunaga M, Martinez-Santibañez G, Geletka L, Lumeng CN, Buchner DA, Chun TH.

Endocrinology. 2013 Dec;154(12):4548-59. doi: 10.1210/en.2013-1587. Epub 2013 Oct 18.

15.

The juxtaparanodal proteins CNTNAP2 and TAG1 regulate diet-induced obesity.

Buchner DA, Geisinger JM, Glazebrook PA, Morgan MG, Spiezio SH, Kaiyala KJ, Schwartz MW, Sakurai T, Furley AJ, Kunze DL, Croniger CM, Nadeau JH.

Mamm Genome. 2012 Aug;23(7-8):431-42. doi: 10.1007/s00335-012-9400-8. Epub 2012 Jul 1.

16.

Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, Slc35b4, regulates obesity and glucose homeostasis.

Yazbek SN, Buchner DA, Geisinger JM, Burrage LC, Spiezio SH, Zentner GE, Hsieh CW, Scacheri PC, Croniger CM, Nadeau JH.

Genome Res. 2011 Jul;21(7):1065-73. doi: 10.1101/gr.120741.111. Epub 2011 Apr 19.

17.

Increased mitochondrial oxidative phosphorylation in the liver is associated with obesity and insulin resistance.

Buchner DA, Yazbek SN, Solinas P, Burrage LC, Morgan MG, Hoppel CL, Nadeau JH.

Obesity (Silver Spring). 2011 May;19(5):917-24. doi: 10.1038/oby.2010.214. Epub 2010 Sep 30. Erratum in: Obesity (Silver Spring). 2011 Nov;19(11):2286.

18.

Ancestral paternal genotype controls body weight and food intake for multiple generations.

Yazbek SN, Spiezio SH, Nadeau JH, Buchner DA.

Hum Mol Genet. 2010 Nov 1;19(21):4134-44. doi: 10.1093/hmg/ddq332. Epub 2010 Aug 9.

19.

Diet-induced hepatocellular carcinoma in genetically predisposed mice.

Hill-Baskin AE, Markiewski MM, Buchner DA, Shao H, DeSantis D, Hsiao G, Subramaniam S, Berger NA, Croniger C, Lambris JD, Nadeau JH.

Hum Mol Genet. 2009 Aug 15;18(16):2975-88. doi: 10.1093/hmg/ddp236. Epub 2009 May 19.

20.

The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking.

Sharkey LM, Cheng X, Drews V, Buchner DA, Jones JM, Justice MJ, Waxman SG, Dib-Hajj SD, Meisler MH.

J Neurosci. 2009 Mar 4;29(9):2733-41. doi: 10.1523/JNEUROSCI.6026-08.2009.

21.

Resistance to diet-induced obesity in mice with a single substituted chromosome.

Buchner DA, Burrage LC, Hill AE, Yazbek SN, O'Brien WE, Croniger CM, Nadeau JH.

Physiol Genomics. 2008 Sep 17;35(1):116-22. doi: 10.1152/physiolgenomics.00033.2008. Epub 2008 Jul 15.

22.

pak2a mutations cause cerebral hemorrhage in redhead zebrafish.

Buchner DA, Su F, Yamaoka JS, Kamei M, Shavit JA, Barthel LK, McGee B, Amigo JD, Kim S, Hanosh AW, Jagadeeswaran P, Goldman D, Lawson ND, Raymond PA, Weinstein BM, Ginsburg D, Lyons SE.

Proc Natl Acad Sci U S A. 2007 Aug 28;104(35):13996-4001. Epub 2007 Aug 22.

23.

Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions.

Meisler MH, Plummer NW, Burgess DL, Buchner DA, Sprunger LK.

Genetica. 2004 Sep;122(1):37-45. Review.

24.
25.

High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot.

Buchner DA, Trudeau M, George AL Jr, Sprunger LK, Meisler MH.

Genomics. 2003 Oct;82(4):452-9.

PMID:
13679025
26.

SCNM1, a putative RNA splicing factor that modifies disease severity in mice.

Buchner DA, Trudeau M, Meisler MH.

Science. 2003 Aug 15;301(5635):967-9.

27.

TSRC1, a widely expressed gene containing seven thrombospondin type I repeats.

Buchner DA, Meisler MH.

Gene. 2003 Mar 27;307:23-30.

PMID:
12706885
28.

The impact of a large-scale population-based asthma management program on pediatric asthma patients and their caregivers.

Georgiou A, Buchner DA, Ershoff DH, Blasko KM, Goodman LV, Feigin J.

Ann Allergy Asthma Immunol. 2003 Mar;90(3):308-15.

PMID:
12669894
29.

Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).

Kearney JA, Buchner DA, De Haan G, Adamska M, Levin SI, Furay AR, Albin RL, Jones JM, Montal M, Stevens MJ, Sprunger LK, Meisler MH.

Hum Mol Genet. 2002 Oct 15;11(22):2765-75.

PMID:
12374766
30.

Impact of respiratory symptoms on health-related quality of life and medical resource utilization of patients treated by allergy specialists and primary care providers.

Kanter LJ, Siegel CJ, Snyder CF, Pelletier EM, Buchner DA, Goss TF.

Ann Allergy Asthma Immunol. 2002 Aug;89(2):139-47.

PMID:
12197569
31.

Mutations of voltage-gated sodium channels in movement disorders and epilepsy.

Meisler MH, Kearney JA, Sprunger LK, MacDonald BT, Buchner DA, Escayg A.

Novartis Found Symp. 2002;241:72-81; discussion 82-6, 226-32. Review.

PMID:
11771652
32.
33.

Evaluation of a short form for measuring health-related quality of life among pediatric asthma patients.

Bukstein DA, McGrath MM, Buchner DA, Landgraf J, Goss TF.

J Allergy Clin Immunol. 2000 Feb;105(2 Pt 1):245-51.

PMID:
10669843
34.

The member satisfaction survey as a measure of health plan accountability.

Buchner DA, Probst LY.

Qual Manag Health Care. 1999 Winter;7(2):41-9.

PMID:
10346461
35.

The effectiveness of one-on-one nurse education on the outcomes of high-risk adult and pediatric patients with asthma.

Forshee JD, Whalen EB, Hackel R, Butt LT, Smeltzer PA, Martin J, Lavin PT, Buchner DA.

Manag Care Interface. 1998 Dec;11(12):82-92.

PMID:
10338748
36.

Effects of an asthma management program on the asthmatic member: patient-centered results of a 2-year study in a managed care organization.

Buchner DA, Butt LT, De Stefano A, Edgren B, Suarez A, Evans RM.

Am J Manag Care. 1998 Sep;4(9):1288-97.

37.

The responsiveness of disease-specific and generic health measures to changes in the severity of asthma among adults.

Ware JE Jr, Kemp JP, Buchner DA, Singer AE, Nolop KB, Goss TF.

Qual Life Res. 1998 Apr;7(3):235-44.

PMID:
9584554
38.

Asthma: benchmarking for quality improvement.

Stempel DA, Carlson AM, Buchner DA.

Ann Allergy Asthma Immunol. 1997 Dec;79(6):517-24.

PMID:
9433367
39.

Approaches to prostate cancer by managed care organizations.

Bennett CL, Buchner DA, Ullman M.

Urology. 1997 Jul;50(1):79-86.

PMID:
9218023
40.

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