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Items: 1 to 50 of 153

1.

Reply to 'Selective effects of heterozygous protein-truncating variants'.

Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR.

Nat Genet. 2019 Jan;51(1):3-4. doi: 10.1038/s41588-018-0301-y. No abstract available.

PMID:
30478437
2.

Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice.

Geister KA, Timms AE, Beier DR.

G3 (Bethesda). 2018 Feb 2;8(2):401-409. doi: 10.1534/g3.117.300292.

3.

Generation of a multipurpose Prdm16 mouse allele by targeted gene trapping.

Strassman A, Schnütgen F, Dai Q, Jones JC, Gomez AC, Pitstick L, Holton NE, Moskal R, Leslie ER, von Melchner H, Beier DR, Bjork BC.

Dis Model Mech. 2017 Jul 1;10(7):909-922. doi: 10.1242/dmm.029561. Epub 2017 Apr 19.

4.

Estimating the selective effects of heterozygous protein-truncating variants from human exome data.

Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR.

Nat Genet. 2017 May;49(5):806-810. doi: 10.1038/ng.3831. Epub 2017 Apr 3.

5.

C-Terminal Region Truncation of RELN Disrupts an Interaction with VLDLR, Causing Abnormal Development of the Cerebral Cortex and Hippocampus.

Ha S, Tripathi PP, Mihalas AB, Hevner RF, Beier DR.

J Neurosci. 2017 Jan 25;37(4):960-971. doi: 10.1523/JNEUROSCI.1826-16.2016.

6.

Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis.

Husson H, Moreno S, Smith LA, Smith MM, Russo RJ, Pitstick R, Sergeev M, Ledbetter SR, Bukanov NO, Lane M, Zhang K, Billot K, Carlson G, Shah J, Meijer L, Beier DR, Ibraghimov-Beskrovnaya O.

Hum Mol Genet. 2016 Jun 1;25(11):2245-2255. Epub 2016 Apr 5.

7.

Dysfunction of intraflagellar transport-A causes hyperphagia-induced obesity and metabolic syndrome.

Jacobs DT, Silva LM, Allard BA, Schonfeld MP, Chatterjee A, Talbott GC, Beier DR, Tran PV.

Dis Model Mech. 2016 Jul 1;9(7):789-98. doi: 10.1242/dmm.025791. Epub 2016 May 11.

8.

Improvement of ENU Mutagenesis Efficiency Using Serial Injection and Mismatch Repair Deficiency Mice.

Gallego-Llamas J, Timms AE, Pitstick R, Peters J, Carlson GA, Beier DR.

PLoS One. 2016 Jul 21;11(7):e0159377. doi: 10.1371/journal.pone.0159377. eCollection 2016.

9.

Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice.

Ha S, Lindsay AM, Timms AE, Beier DR.

G3 (Bethesda). 2016 Aug 9;6(8):2479-87. doi: 10.1534/g3.116.030791.

10.
11.

Variant mapping and mutation discovery in inbred mice using next-generation sequencing.

Gallego-Llamas J, Timms AE, Geister KA, Lindsay A, Beier DR.

BMC Genomics. 2015 Nov 9;16:913. doi: 10.1186/s12864-015-2173-1.

12.

Grhl2 is required in nonneural tissues for neural progenitor survival and forebrain development.

Menke C, Cionni M, Siggers T, Bulyk ML, Beier DR, Stottmann RW.

Genesis. 2015 Sep;53(9):573-582. doi: 10.1002/dvg.22875. Epub 2015 Jul 22.

13.

Amyloid accelerates tau propagation and toxicity in a model of early Alzheimer's disease.

Pooler AM, Polydoro M, Maury EA, Nicholls SB, Reddy SM, Wegmann S, William C, Saqran L, Cagsal-Getkin O, Pitstick R, Beier DR, Carlson GA, Spires-Jones TL, Hyman BT.

Acta Neuropathol Commun. 2015 Mar 24;3:14. doi: 10.1186/s40478-015-0199-x.

14.

ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning.

Czarnecki PG, Gabriel GC, Manning DK, Sergeev M, Lemke K, Klena NT, Liu X, Chen Y, Li Y, San Agustin JT, Garnaas MK, Francis RJ, Tobita K, Goessling W, Pazour GJ, Lo CW, Beier DR, Shah JV.

Nat Commun. 2015 Jan 20;6:6023. doi: 10.1038/ncomms7023.

15.

Downregulating hedgehog signaling reduces renal cystogenic potential of mouse models.

Tran PV, Talbott GC, Turbe-Doan A, Jacobs DT, Schonfeld MP, Silva LM, Chatterjee A, Prysak M, Allard BA, Beier DR.

J Am Soc Nephrol. 2014 Oct;25(10):2201-12. doi: 10.1681/ASN.2013070735. Epub 2014 Apr 3.

16.

NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies.

Choi HJ, Lin JR, Vannier JB, Slaats GG, Kile AC, Paulsen RD, Manning DK, Beier DR, Giles RH, Boulton SJ, Cimprich KA.

Mol Cell. 2013 Aug 22;51(4):423-39. doi: 10.1016/j.molcel.2013.08.006.

17.

A forward genetic screen in mice identifies mutants with abnormal cortical patterning.

Ha S, Stottmann RW, Furley AJ, Beier DR.

Cereb Cortex. 2015 Jan;25(1):167-79. doi: 10.1093/cercor/bht209. Epub 2013 Aug 22.

18.

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.

Stottmann RW, Donlin M, Hafner A, Bernard A, Sinclair DA, Beier DR.

Hum Mol Genet. 2013 Oct 15;22(20):4053-63. doi: 10.1093/hmg/ddt255. Epub 2013 May 31.

19.

Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.

Manning DK, Sergeev M, van Heesbeen RG, Wong MD, Oh JH, Liu Y, Henkelman RM, Drummond I, Shah JV, Beier DR.

J Am Soc Nephrol. 2013 Jan;24(1):100-12. doi: 10.1681/ASN.2012050490.

20.

A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.

Tao J, Koster MI, Harrison W, Moran JL, Beier DR, Roop DR, Overbeek PA.

PLoS One. 2012;7(11):e50634. doi: 10.1371/journal.pone.0050634. Epub 2012 Nov 30. Erratum in: PLoS One. 2014;9(2):e91624.

21.

Mutation of the BiP/GRP78 gene causes axon outgrowth and fasciculation defects in the thalamocortical connections of the mammalian forebrain.

Favero CB, Henshaw RN, Grimsley-Myers CM, Shrestha A, Beier DR, Dwyer ND.

J Comp Neurol. 2013 Feb 15;521(3):677-96. doi: 10.1002/cne.23199.

22.

Mutation mapping and identification by whole-genome sequencing.

Leshchiner I, Alexa K, Kelsey P, Adzhubei I, Austin-Tse CA, Cooney JD, Anderson H, King MJ, Stottmann RW, Garnaas MK, Ha S, Drummond IA, Paw BH, North TE, Beier DR, Goessling W, Sunyaev SR.

Genome Res. 2012 Aug;22(8):1541-8. doi: 10.1101/gr.135541.111. Epub 2012 May 3.

23.

Production of a natural antibody to the mouse polyoma virus is a multigenic trait.

Andrews E, Velupillai P, Sung CK, Beier DR, Benjamin T.

G3 (Bethesda). 2012 Mar;2(3):353-5. doi: 10.1534/g3.111.001701. Epub 2012 Mar 1.

24.

ENU mutagenesis in mice identifies candidate genes for hypogonadism.

Weiss J, Hurley LA, Harris RM, Finlayson C, Tong M, Fisher LA, Moran JL, Beier DR, Mason C, Jameson JL.

Mamm Genome. 2012 Jun;23(5-6):346-55. doi: 10.1007/s00335-011-9388-5. Epub 2012 Jan 19.

25.

Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.

Stottmann RW, Turbe-Doan A, Tran P, Kratz LE, Moran JL, Kelley RI, Beier DR.

PLoS Genet. 2011 Sep;7(9):e1002224. doi: 10.1371/journal.pgen.1002224. Epub 2011 Sep 1.

26.

The naive airway hyperresponsiveness of the A/J mouse is Kit-mediated.

Cozzi E, Ackerman KG, Lundequist A, Drazen JM, Boyce JA, Beier DR.

Proc Natl Acad Sci U S A. 2011 Aug 2;108(31):12787-92. doi: 10.1073/pnas.1106582108. Epub 2011 Jul 18. Erratum in: Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18185.

27.

Lipoxygenases mediate the effect of essential fatty acid in skin barrier formation: a proposed role in releasing omega-hydroxyceramide for construction of the corneocyte lipid envelope.

Zheng Y, Yin H, Boeglin WE, Elias PM, Crumrine D, Beier DR, Brash AR.

J Biol Chem. 2011 Jul 8;286(27):24046-56. doi: 10.1074/jbc.M111.251496. Epub 2011 May 10.

28.

Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse.

Stottmann RW, Moran JL, Turbe-Doan A, Driver E, Kelley M, Beier DR.

Genetics. 2011 Jul;188(3):615-24. doi: 10.1534/genetics.111.126862. Epub 2011 Apr 21.

29.

A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype.

Dwyer ND, Manning DK, Moran JL, Mudbhary R, Fleming MS, Favero CB, Vock VM, O'Leary DD, Walsh CA, Beier DR.

Neural Dev. 2011 Jan 7;6:3. doi: 10.1186/1749-8104-6-3.

30.

A transient transgenic RNAi strategy for rapid characterization of gene function during embryonic development.

Bjork BC, Fujiwara Y, Davis SW, Qiu H, Saunders TL, Sandy P, Orkin S, Camper SA, Beier DR.

PLoS One. 2010 Dec 16;5(12):e14375. doi: 10.1371/journal.pone.0014375.

31.

New genetic resources for mammalian developmental biologists.

Beier DR.

F1000 Biol Rep. 2010 Oct 12;2:72. doi: 10.3410/B2-72.

32.

The zebrafish foxj1a transcription factor regulates cilia function in response to injury and epithelial stretch.

Hellman NE, Liu Y, Merkel E, Austin C, Le Corre S, Beier DR, Sun Z, Sharma N, Yoder BK, Drummond IA.

Proc Natl Acad Sci U S A. 2010 Oct 26;107(43):18499-504. doi: 10.1073/pnas.1005998107. Epub 2010 Oct 11.

33.

Using ENU mutagenesis for phenotype-driven analysis of the mouse.

Stottmann RW, Beier DR.

Methods Enzymol. 2010;477:329-48. doi: 10.1016/S0076-6879(10)77017-8.

PMID:
20699149
34.

Genome-wide identification of mouse congenital heart disease loci.

Kamp A, Peterson MA, Svenson KL, Bjork BC, Hentges KE, Rajapaksha TW, Moran J, Justice MJ, Seidman JG, Seidman CE, Moskowitz IP, Beier DR.

Hum Mol Genet. 2010 Aug 15;19(16):3105-13. doi: 10.1093/hmg/ddq211. Epub 2010 May 28.

35.

Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse.

Stottmann RW, Bjork BC, Doyle JB, Beier DR.

Genesis. 2010 May;48(5):303-8. doi: 10.1002/dvg.20618.

36.

Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia.

Shiba D, Manning DK, Koga H, Beier DR, Yokoyama T.

Cytoskeleton (Hoboken). 2010 Feb;67(2):112-9. doi: 10.1002/cm.20428.

PMID:
20169535
37.

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR.

N Engl J Med. 2010 Jan 21;362(3):206-16. doi: 10.1056/NEJMoa0900158.

38.

Prdm16 is required for normal palatogenesis in mice.

Bjork BC, Turbe-Doan A, Prysak M, Herron BJ, Beier DR.

Hum Mol Genet. 2010 Mar 1;19(5):774-89. doi: 10.1093/hmg/ddp543. Epub 2009 Dec 11.

39.

Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice.

Heydemann A, Ceco E, Lim JE, Hadhazy M, Ryder P, Moran JL, Beier DR, Palmer AA, McNally EM.

J Clin Invest. 2009 Dec;119(12):3703-12. doi: 10.1172/JCI39845. Epub 2009 Nov 2. Erratum in: J Clin Invest. 2010 Feb;120(2):645.

40.

Concurrent Lpin1 and Nrcam mouse mutations result in severe peripheral neuropathy with transitory hindlimb paralysis.

Douglas DS, Moran JL, Bermingham JR Jr, Chen XJ, Brindley DN, Soliven B, Beier DR, Popko B.

J Neurosci. 2009 Sep 30;29(39):12089-100. doi: 10.1523/JNEUROSCI.2029-09.2009.

41.

Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain.

Stottmann RW, Tran PV, Turbe-Doan A, Beier DR.

Dev Biol. 2009 Nov 1;335(1):166-78. doi: 10.1016/j.ydbio.2009.08.023. Epub 2009 Sep 2.

42.

Agouti C57BL/6N embryonic stem cells for mouse genetic resources.

Pettitt SJ, Liang Q, Rairdan XY, Moran JL, Prosser HM, Beier DR, Lloyd KC, Bradley A, Skarnes WC.

Nat Methods. 2009 Jul;6(7):493-5. doi: 10.1038/nmeth.1342. Epub 2009 Jun 14.

43.

An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15.

Fernandez L, Marchuk DA, Moran JL, Beier DR, Rockman HA.

Mamm Genome. 2009 May;20(5):296-304. doi: 10.1007/s00335-009-9184-7. Epub 2009 Apr 23.

44.

SNP2RFLP: a computational tool to facilitate genetic mapping using benchtop analysis of SNPs.

Beckstead WA, Bjork BC, Stottmann RW, Sunyaev S, Beier DR.

Mamm Genome. 2008 Oct-Dec;19(10-12):687-90. doi: 10.1007/s00335-008-9149-2. Epub 2008 Oct 29.

45.

PRDM16 controls a brown fat/skeletal muscle switch.

Seale P, Bjork B, Yang W, Kajimura S, Chin S, Kuang S, Scimè A, Devarakonda S, Conroe HM, Erdjument-Bromage H, Tempst P, Rudnicki MA, Beier DR, Spiegelman BM.

Nature. 2008 Aug 21;454(7207):961-7. doi: 10.1038/nature07182.

46.

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia.

Tran PV, Haycraft CJ, Besschetnova TY, Turbe-Doan A, Stottmann RW, Herron BJ, Chesebro AL, Qiu H, Scherz PJ, Shah JV, Yoder BK, Beier DR.

Nat Genet. 2008 Apr;40(4):403-410. doi: 10.1038/ng.105. Epub 2008 Mar 9.

47.

Nek8 regulates the expression and localization of polycystin-1 and polycystin-2.

Sohara E, Luo Y, Zhang J, Manning DK, Beier DR, Zhou J.

J Am Soc Nephrol. 2008 Mar;19(3):469-76. doi: 10.1681/ASN.2006090985. Epub 2008 Jan 30.

48.

Defects in ciliary localization of Nek8 is associated with cystogenesis.

Trapp ML, Galtseva A, Manning DK, Beier DR, Rosenblum ND, Quarmby LM.

Pediatr Nephrol. 2008 Mar;23(3):377-87. doi: 10.1007/s00467-007-0692-y. Epub 2008 Jan 9.

PMID:
18189147
49.

TAT-mediated PRDX6 protein transduction protects against eye lens epithelial cell death and delays lens opacity.

Kubo E, Fatma N, Akagi Y, Beier DR, Singh SP, Singh DP.

Am J Physiol Cell Physiol. 2008 Mar;294(3):C842-55. doi: 10.1152/ajpcell.00540.2007. Epub 2008 Jan 9.

50.

Genome-wide SNP analysis of Tg.AC transgenic mice reveals an oncogenic collaboration between v-Ha-ras and Ink4a, which is absent in p53 deficiency.

Leder A, McMenamin J, Zhou F, Moran JL, Beier DR, Leder P.

Oncogene. 2008 Apr 10;27(17):2456-65. Epub 2007 Oct 22.

PMID:
17952114

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