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Items: 28

1.

Measurement of Organ-Specific and Acute-Phase Blood Protein Levels in Early Lyme Disease.

Zhou Y, Qin S, Sun M, Tang L, Yan X, Kim TK, Caballero J, Glusman G, Brunkow ME, Soloski MJ, Rebman AW, Scavarda C, Cooper D, Omenn GS, Moritz RL, Wormser GP, Price ND, Aucott JN, Hood L.

J Proteome Res. 2019 Nov 1. doi: 10.1021/acs.jproteome.9b00569. [Epub ahead of print]

PMID:
31618575
2.

Evolutionary history of Tibetans inferred from whole-genome sequencing.

Hu H, Petousi N, Glusman G, Yu Y, Bohlender R, Tashi T, Downie JM, Roach JC, Cole AM, Lorenzo FR, Rogers AR, Brunkow ME, Cavalleri G, Hood L, Alpatty SM, Prchal JT, Jorde LB, Robbins PA, Simonson TS, Huff CD.

PLoS Genet. 2017 Apr 27;13(4):e1006675. doi: 10.1371/journal.pgen.1006675. eCollection 2017 Apr.

3.

Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals.

Stittrich AB, Ashworth J, Shi M, Robinson M, Mauldin D, Brunkow ME, Biswas S, Kim JM, Kwon KS, Jung JU, Galas D, Serikawa K, Duerr RH, Guthery SL, Peschon J, Hood L, Roach JC, Glusman G.

Hum Genome Var. 2016 Jan 7;3:15060. doi: 10.1038/hgv.2015.60. eCollection 2016.

4.

Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease.

Lalli MA, Bettcher BM, Arcila ML, Garcia G, Guzman C, Madrigal L, Ramirez L, Acosta-Uribe J, Baena A, Wojta KJ, Coppola G, Fitch R, de Both MD, Huentelman MJ, Reiman EM, Brunkow ME, Glusman G, Roach JC, Kao AW, Lopera F, Kosik KS.

Mol Psychiatry. 2015 Nov;20(11):1294-300. doi: 10.1038/mp.2015.131. Epub 2015 Sep 1.

5.

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ.

PLoS One. 2015 Aug 31;10(8):e0137370. doi: 10.1371/journal.pone.0137370. eCollection 2015. No abstract available.

6.

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ.

PLoS One. 2015 May 21;10(5):e0127045. doi: 10.1371/journal.pone.0127045. eCollection 2015. Erratum in: PLoS One. 2015;10(8):e0137370.

7.

Identification of copy number variants in whole-genome data using Reference Coverage Profiles.

Glusman G, Severson A, Dhankani V, Robinson M, Farrah T, Mauldin DE, Stittrich AB, Ament SA, Roach JC, Brunkow ME, Bodian DL, Vockley JG, Shmulevich I, Niederhuber JE, Hood L.

Front Genet. 2015 Feb 17;6:45. doi: 10.3389/fgene.2015.00045. eCollection 2015.

8.

Rare variants in neuronal excitability genes influence risk for bipolar disorder.

Ament SA, Szelinger S, Glusman G, Ashworth J, Hou L, Akula N, Shekhtman T, Badner JA, Brunkow ME, Mauldin DE, Stittrich AB, Rouleau K, Detera-Wadleigh SD, Nurnberger JI Jr, Edenberg HJ, Gershon ES, Schork N; Bipolar Genome Study, Price ND, Gelinas R, Hood L, Craig D, McMahon FJ, Kelsoe JR, Roach JC.

Proc Natl Acad Sci U S A. 2015 Mar 17;112(11):3576-81. doi: 10.1073/pnas.1424958112. Epub 2015 Feb 17.

9.

Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease.

Lalli MA, Cox HC, Arcila ML, Cadavid L, Moreno S, Garcia G, Madrigal L, Reiman EM, Arcos-Burgos M, Bedoya G, Brunkow ME, Glusman G, Roach JC, Hood L, Kosik KS, Lopera F.

Alzheimers Dement. 2014 Oct;10(5 Suppl):S277-S283.e10. doi: 10.1016/j.jalz.2013.09.005. Epub 2013 Nov 13.

10.

Sclerostin: how human mutations have helped reveal a new target for the treatment of osteoporosis.

Robinson MK, Caminis J, Brunkow ME.

Drug Discov Today. 2013 Jul;18(13-14):637-43. doi: 10.1016/j.drudis.2013.04.001. Epub 2013 Apr 8. Review.

PMID:
23579167
11.

Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development.

Park H, Staehling K, Tsang M, Appleby MW, Brunkow ME, Margineantu D, Hockenbery DM, Habib T, Liggitt HD, Carlson G, Iritani BM.

Immunity. 2012 May 25;36(5):769-81. doi: 10.1016/j.immuni.2012.02.019. Epub 2012 May 17.

12.

A point mutation in the murine Hem1 gene reveals an essential role for Hematopoietic protein 1 in lymphopoiesis and innate immunity.

Park H, Staehling-Hampton K, Appleby MW, Brunkow ME, Habib T, Zhang Y, Ramsdell F, Liggitt HD, Freie B, Tsang M, Carlson G, Friend S, Frevert C, Iritani BM.

J Exp Med. 2008 Nov 24;205(12):2899-913. doi: 10.1084/jem.20080340. Epub 2008 Nov 17.

13.

Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites.

Uitterlinden AG, Arp PP, Paeper BW, Charmley P, Proll S, Rivadeneira F, Fang Y, van Meurs JB, Britschgi TB, Latham JA, Schatzman RC, Pols HA, Brunkow ME.

Am J Hum Genet. 2004 Dec;75(6):1032-45. Epub 2004 Oct 26.

14.

A novel mutation in CD83 results in the development of a unique population of CD4+ T cells.

García-Martínez LF, Appleby MW, Staehling-Hampton K, Andrews DM, Chen Y, McEuen M, Tang P, Rhinehart RL, Proll S, Paeper B, Brunkow ME, Grandea AG 3rd, Howard ED, Walker DE, Charmley P, Jonas M, Shaw S, Latham JA, Ramsdell F.

J Immunol. 2004 Sep 1;173(5):2995-3001.

15.

Osteocyte control of bone formation via sclerostin, a novel BMP antagonist.

Winkler DG, Sutherland MK, Geoghegan JC, Yu C, Hayes T, Skonier JE, Shpektor D, Jonas M, Kovacevich BR, Staehling-Hampton K, Appleby M, Brunkow ME, Latham JA.

EMBO J. 2003 Dec 1;22(23):6267-76.

16.

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.

Staehling-Hampton K, Proll S, Paeper BW, Zhao L, Charmley P, Brown A, Gardner JC, Galas D, Schatzman RC, Beighton P, Papapoulos S, Hamersma H, Brunkow ME.

Am J Med Genet. 2002 Jun 15;110(2):144-52.

PMID:
12116252
17.

The amount of scurfin protein determines peripheral T cell number and responsiveness.

Khattri R, Kasprowicz D, Cox T, Mortrud M, Appleby MW, Brunkow ME, Ziegler SF, Ramsdell F.

J Immunol. 2001 Dec 1;167(11):6312-20.

18.

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome.

Bennett CL, Brunkow ME, Ramsdell F, O'Briant KC, Zhu Q, Fuleihan RL, Shigeoka AO, Ochs HD, Chance PF.

Immunogenetics. 2001 Aug;53(6):435-9.

PMID:
11685453
19.

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.

Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan J.

Am J Hum Genet. 2001 Mar;68(3):577-89. Epub 2001 Feb 9.

20.

Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse.

Brunkow ME, Jeffery EW, Hjerrild KA, Paeper B, Clark LB, Yasayko SA, Wilkinson JE, Galas D, Ziegler SF, Ramsdell F.

Nat Genet. 2001 Jan;27(1):68-73.

PMID:
11138001
21.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD.

Nat Genet. 2001 Jan;27(1):20-1.

PMID:
11137993
22.

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L, Bricarelli FD, Byrne G, McEuen M, Proll S, Appleby M, Brunkow ME.

Nat Genet. 2001 Jan;27(1):18-20.

PMID:
11137992
23.

Cellular and molecular characterization of the scurfy mouse mutant.

Clark LB, Appleby MW, Brunkow ME, Wilkinson JE, Ziegler SF, Ramsdell F.

J Immunol. 1999 Mar 1;162(5):2546-54.

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26.

Epigenetic mechanisms underlying the imprinting of the mouse H19 gene.

Bartolomei MS, Webber AL, Brunkow ME, Tilghman SM.

Genes Dev. 1993 Sep;7(9):1663-73.

27.

Parental imprinting of the H19 and Igf2 genes in the mouse.

Tilghman SM, Bartolomei MS, Webber AL, Brunkow ME, Saam J, Leighton PA, Pfeifer K, Zemel S.

Cold Spring Harb Symp Quant Biol. 1993;58:287-95. No abstract available.

PMID:
7956041
28.

Ectopic expression of the H19 gene in mice causes prenatal lethality.

Brunkow ME, Tilghman SM.

Genes Dev. 1991 Jun;5(6):1092-101.

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