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Items: 39

1.

Breakdown of Multiple Sclerosis Genetics to Identify an Integrated Disease Network and Potential Variant Mechanisms.

Shepard CJ, Cline SG, Hinds D, Jahanbakhsh S, Prokop JW.

Physiol Genomics. 2019 Sep 4. doi: 10.1152/physiolgenomics.00120.2018. [Epub ahead of print]

PMID:
31482761
2.

Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.

Nissim S, Leshchiner I, Mancias JD, Greenblatt MB, Maertens O, Cassa CA, Rosenfeld JA, Cox AG, Hedgepeth J, Wucherpfennig JI, Kim AJ, Henderson JE, Gonyo P, Brandt A, Lorimer E, Unger B, Prokop JW, Heidel JR, Wang XX, Ukaegbu CI, Jennings BC, Paulo JA, Gableske S, Fierke CA, Getz G, Sunyaev SR, Wade Harper J, Cichowski K, Kimmelman AC, Houvras Y, Syngal S, Williams C, Goessling W.

Nat Genet. 2019 Sep;51(9):1308-1314. doi: 10.1038/s41588-019-0475-y. Epub 2019 Aug 12.

PMID:
31406347
3.

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

Hiatt SM, Thompson ML, Prokop JW, Lawlor JMJ, Gray DE, Bebin EM, Rinne T, Kempers M, Pfundt R, van Bon BW, Mignot C, Nava C, Depienne C, Kalsner L, Rauch A, Joset P, Bachmann-Gagescu R, Wentzensen IM, McWalter K, Cooper GM.

Am J Hum Genet. 2019 Apr 4;104(4):701-708. doi: 10.1016/j.ajhg.2019.02.002. Epub 2019 Mar 14.

4.

HDAC2 Regulates Site-Specific Acetylation of MDM2 and Its Ubiquitination Signaling in Tumor Suppression.

Patel N, Wang J, Shiozawa K, Jones KB, Zhang Y, Prokop JW, Davenport GG, Nihira NT, Hao Z, Wong D, Brandsmeier L, Meadows SK, Sampaio AV, Werff RV, Endo M, Capecchi MR, McNagny KM, Mak TW, Nielsen TO, Underhill TM, Myers RM, Kondo T, Su L.

iScience. 2019 Mar 29;13:43-54. doi: 10.1016/j.isci.2019.02.008. Epub 2019 Feb 15.

5.

Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.

Korakavi N, Prokop JW, Seaver LH.

Am J Med Genet A. 2019 Apr;179(4):668-673. doi: 10.1002/ajmg.a.61070. Epub 2019 Feb 27.

PMID:
30811827
6.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM.

PLoS Genet. 2018 Nov 30;14(11):e1007671. doi: 10.1371/journal.pgen.1007671. eCollection 2018 Nov.

7.

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM.

Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8.

8.

Genome sequencing in the clinic: the past, present, and future of genomic medicine.

Prokop JW, May T, Strong K, Bilinovich SM, Bupp C, Rajasekaran S, Worthey EA, Lazar J.

Physiol Genomics. 2018 Aug 1;50(8):563-579. doi: 10.1152/physiolgenomics.00046.2018. Epub 2018 May 4. Review.

9.

Functional domain analysis of SOX18 transcription factor using a single-chain variable fragment-based approach.

Fontaine FR, Goodall S, Prokop JW, Howard CB, Moustaqil M, Kumble S, Rasicci DT, Osborne GW, Gambin Y, Sierecki E, Jones ML, Zuegg J, Mahler S, Francois M.

MAbs. 2018 May/Jun;10(4):596-606. doi: 10.1080/19420862.2018.1451288. Epub 2018 Apr 16.

10.

Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD.

Prokop JW, Yeo NC, Ottmann C, Chhetri SB, Florus KL, Ross EJ, Sosonkina N, Link BA, Freedman BI, Coppola CJ, McDermott-Roe C, Leysen S, Milroy LG, Meijer FA, Geurts AM, Rauscher FJ 3rd, Ramaker R, Flister MJ, Jacob HJ, Mendenhall EM, Lazar J.

J Am Soc Nephrol. 2018 May;29(5):1525-1535. doi: 10.1681/ASN.2017080856. Epub 2018 Feb 23.

11.

Genetic Fine-Mapping and Identification of Candidate Genes and Variants for Adiposity Traits in Outbred Rats.

Keele GR, Prokop JW, He H, Holl K, Littrell J, Deal A, Francic S, Cui L, Gatti DM, Broman KW, Tschannen M, Tsaih SW, Zagloul M, Kim Y, Baur B, Fox J, Robinson M, Levy S, Flister MJ, Mott R, Valdar W, Solberg Woods LC.

Obesity (Silver Spring). 2018 Jan;26(1):213-222. doi: 10.1002/oby.22075. Epub 2017 Nov 28.

12.

RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.

Schilter KF, Steiner JE, Demos W, Maheshwari M, Prokop JW, Worthey E, Drolet BA, Siegel DH.

Am J Med Genet A. 2017 Sep;173(9):2557-2561. doi: 10.1002/ajmg.a.38258. Epub 2017 Jul 7.

13.

On the Molecular Evolution of Leptin, Leptin Receptor, and Endospanin.

Londraville RL, Prokop JW, Duff RJ, Liu Q, Tuttle M.

Front Endocrinol (Lausanne). 2017 Apr 10;8:58. doi: 10.3389/fendo.2017.00058. eCollection 2017.

14.

Molecular modeling in the age of clinical genomics, the enterprise of the next generation.

Prokop JW, Lazar J, Crapitto G, Smith DC, Worthey EA, Jacob HJ.

J Mol Model. 2017 Mar;23(3):75. doi: 10.1007/s00894-017-3258-3. Epub 2017 Feb 15.

15.

Methylation specific targeting of a chromatin remodeling complex from sponges to humans.

Cramer JM, Pohlmann D, Gomez F, Mark L, Kornegay B, Hall C, Siraliev-Perez E, Walavalkar NM, Sperlazza MJ, Bilinovich S, Prokop JW, Hill AL, Williams DC Jr.

Sci Rep. 2017 Jan 17;7:40674. doi: 10.1038/srep40674.

16.

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

Møller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmüller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S.

Neurol Genet. 2016 Oct 31;2(6):e118. eCollection 2016 Dec.

17.

Differences in the Phosphorylation-Dependent Regulation of Prenylation of Rap1A and Rap1B.

Wilson JM, Prokop JW, Lorimer E, Ntantie E, Williams CL.

J Mol Biol. 2016 Dec 4;428(24 Pt B):4929-4945. doi: 10.1016/j.jmb.2016.10.016. Epub 2016 Oct 17.

18.

Beyond thermoregulation: metabolic function of cetacean blubber in migrating bowhead and beluga whales.

Ball HC, Londraville RL, Prokop JW, George JC, Suydam RS, Vinyard C, Thewissen JG, Duff RJ.

J Comp Physiol B. 2017 Jan;187(1):235-252. doi: 10.1007/s00360-016-1029-6. Epub 2016 Aug 29.

19.

The tumor-suppressive small GTPase DiRas1 binds the noncanonical guanine nucleotide exchange factor SmgGDS and antagonizes SmgGDS interactions with oncogenic small GTPases.

Bergom C, Hauser AD, Rymaszewski A, Gonyo P, Prokop JW, Jennings BC, Lawton AJ, Frei A, Lorimer EL, Aguilera-Barrantes I, Mackinnon AC Jr, Noon K, Fierke CA, Williams CL.

J Biol Chem. 2016 May 13;291(20):10948. doi: 10.1074/jbc.A115.696831. No abstract available.

20.

The phenotypic impact of the male-specific region of chromosome-Y in inbred mating: the role of genetic variants and gene duplications in multiple inbred rat strains.

Prokop JW, Tsaih SW, Faber AB, Boehme S, Underwood AC, Troyer S, Playl L, Milsted A, Turner ME, Ely D, Martins AS, Tutaj M, Lazar J, Dwinell MR, Jacob HJ.

Biol Sex Differ. 2016 Feb 3;7:10. doi: 10.1186/s13293-016-0064-z. eCollection 2016.

21.

The Tumor-suppressive Small GTPase DiRas1 Binds the Noncanonical Guanine Nucleotide Exchange Factor SmgGDS and Antagonizes SmgGDS Interactions with Oncogenic Small GTPases.

Bergom C, Hauser AD, Rymaszewski A, Gonyo P, Prokop JW, Jennings BC, Lawton AJ, Frei A, Lorimer EL, Aguilera-Barrantes I, Mackinnon AC, Noon K, Fierke CA, Williams CL.

J Biol Chem. 2016 Mar 18;291(12):6534-45. doi: 10.1074/jbc.M115.696831. Epub 2016 Jan 26. Erratum in: J Biol Chem. 2016 May 13;291(20):10948.

22.

Chromosome Y genetic variants: impact in animal models and on human disease.

Prokop JW, Deschepper CF.

Physiol Genomics. 2015 Nov;47(11):525-37. doi: 10.1152/physiolgenomics.00074.2015. Epub 2015 Aug 18. Review.

23.

2015 Guidelines for Establishing Genetically Modified Rat Models for Cardiovascular Research.

Flister MJ, Prokop JW, Lazar J, Shimoyama M, Dwinell M, Geurts A; International Committee on Standardized Genetic Nomenclature for Mice; Rat Genome and Nomenclature Committee.

J Cardiovasc Transl Res. 2015 Jun;8(4):269-77. doi: 10.1007/s12265-015-9626-4. Epub 2015 Apr 29. Review.

24.

Mutation of SH2B3 (LNK), a genome-wide association study candidate for hypertension, attenuates Dahl salt-sensitive hypertension via inflammatory modulation.

Rudemiller NP, Lund H, Priestley JR, Endres BT, Prokop JW, Jacob HJ, Geurts AM, Cohen EP, Mattson DL.

Hypertension. 2015 May;65(5):1111-7. doi: 10.1161/HYPERTENSIONAHA.114.04736. Epub 2015 Mar 16.

25.

An evolutionarily conserved DNA architecture determines target specificity of the TWIST family bHLH transcription factors.

Chang AT, Liu Y, Ayyanathan K, Benner C, Jiang Y, Prokop JW, Paz H, Wang D, Li HR, Fu XD, Rauscher FJ 3rd, Yang J.

Genes Dev. 2015 Mar 15;29(6):603-16. doi: 10.1101/gad.242842.114. Epub 2015 Mar 11.

26.

Similarities and differences of X and Y chromosome homologous genes, SRY and SOX3, in regulating the renin-angiotensin system promoters.

Araujo FC, Milsted A, Watanabe IK, Del Puerto HL, Santos RA, Lazar J, Reis FM, Prokop JW.

Physiol Genomics. 2015 May;47(5):177-86. doi: 10.1152/physiolgenomics.00138.2014. Epub 2015 Mar 10.

27.

Structural libraries of protein models for multiple species to understand evolution of the renin-angiotensin system.

Prokop JW, Petri V, Shimoyama ME, Watanabe IK, Casarini DE, Leeper TC, Bilinovich SM, Jacob HJ, Santos RA, Martins AS, Araujo FC, Reis FM, Milsted A.

Gen Comp Endocrinol. 2015 May 1;215:106-16. doi: 10.1016/j.ygcen.2014.09.010. Epub 2014 Sep 26.

28.

Refined mapping of a hypertension susceptibility locus on rat chromosome 12.

Prisco SZ, Prokop JW, Sarkis AB, Yeo NC, Hoffman MJ, Hansen CC, Jacob HJ, Flister MJ, Lazar J.

Hypertension. 2014 Oct;64(4):883-90. doi: 10.1161/HYPERTENSIONAHA.114.03550. Epub 2014 Jul 7.

29.

Traumatic brain injury-related attention deficits: treatment outcomes with lisdexamfetamine dimesylate (Vyvanse).

Tramontana MG, Cowan RL, Zald D, Prokop JW, Guillamondegui O.

Brain Inj. 2014;28(11):1461-72. doi: 10.3109/02699052.2014.930179. Epub 2014 Jul 2.

PMID:
24988121
30.

Discovery of the elusive leptin in birds: identification of several 'missing links' in the evolution of leptin and its receptor.

Prokop JW, Schmidt C, Gasper D, Duff RJ, Milsted A, Ohkubo T, Ball HC, Shawkey MD, Mays HL Jr, Cogburn LA, Londraville RL.

PLoS One. 2014 Mar 24;9(3):e92751. doi: 10.1371/journal.pone.0092751. eCollection 2014.

31.

LIMD2 is a small LIM-only protein overexpressed in metastatic lesions that regulates cell motility and tumor progression by directly binding to and activating the integrin-linked kinase.

Peng H, Talebzadeh-Farrooji M, Osborne MJ, Prokop JW, McDonald PC, Karar J, Hou Z, He M, Kebebew E, Orntoft T, Herlyn M, Caton AJ, Fredericks W, Malkowicz B, Paterno CS, Carolin AS, Speicher DW, Skordalakes E, Huang Q, Dedhar S, Borden KLB, Rauscher FJ 3rd.

Cancer Res. 2014 Mar 1;74(5):1390-1403. doi: 10.1158/0008-5472.CAN-13-1275.

32.

The C-terminal domain of SRA1p has a fold more similar to PRP18 than to an RRM and does not directly bind to the SRA1 RNA STR7 region.

Bilinovich SM, Davis CM, Morris DL, Ray LA, Prokop JW, Buchan GJ, Leeper TC.

J Mol Biol. 2014 Apr 17;426(8):1753-65. doi: 10.1016/j.jmb.2014.01.007. Epub 2014 Jan 29.

PMID:
24486611
33.

Analysis of Sry duplications on the Rattus norvegicus Y-chromosome.

Prokop JW, Underwood AC, Turner ME, Miller N, Pietrzak D, Scott S, Smith C, Milsted A.

BMC Genomics. 2013 Nov 14;14:792. doi: 10.1186/1471-2164-14-792.

34.

MAS promoter regulation: a role for Sry and tyrosine nitration of the KRAB domain of ZNF274 as a feedback mechanism.

Prokop JW, Rauscher FJ 3rd, Peng H, Liu Y, Araujo FC, Watanabe I, Reis FM, Milsted A.

Clin Sci (Lond). 2014 May;126(10):727-38. doi: 10.1042/CS20130385.

35.

Differential mechanisms of activation of the Ang peptide receptors AT1, AT2, and MAS: using in silico techniques to differentiate the three receptors.

Prokop JW, Santos RA, Milsted A.

PLoS One. 2013 Jun 3;8(6):e65307. doi: 10.1371/journal.pone.0065307. Print 2013.

36.

A method for in silico identification of SNAIL/SLUG DNA binding potentials to the E-box sequence using molecular dynamics and evolutionary conserved amino acids.

Prokop JW, Liu Y, Milsted A, Peng H, Rauscher FJ 3rd.

J Mol Model. 2013 Sep;19(9):3463-9. doi: 10.1007/s00894-013-1876-y. Epub 2013 May 25.

37.

Leptin and leptin receptor: analysis of a structure to function relationship in interaction and evolution from humans to fish.

Prokop JW, Duff RJ, Ball HC, Copeland DL, Londraville RL.

Peptides. 2012 Dec;38(2):326-36. doi: 10.1016/j.peptides.2012.10.002. Epub 2012 Oct 17.

38.
39.

From rat to human: regulation of Renin-Angiotensin system genes by sry.

Prokop JW, Watanabe IK, Turner ME, Underwood AC, Martins AS, Milsted A.

Int J Hypertens. 2012;2012:724240. doi: 10.1155/2012/724240. Epub 2012 Jan 22.

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