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Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2287, doi. 10.1002/ajmg.a.36641
By:
- Mumm, Steven;
- Huskey, Margaret;
- Duan, Shenghui;
- Wenkert, Deborah;
- Madson, Katherine L.;
- Gottesman, Gary S.;
- Nenninger, Angela R.;
- Laxer, Ronald M.;
- McAlister, William H.;
- Whyte, Michael P.
Publication type:
Article
Single-nucleotide polymorphisms in the public domain: how useful are they?
Published in:
Nature Genetics, 2001, v. 27, n. 4, p. 371, doi. 10.1038/86864
By:
- Marth, Gabor;
- Yeh, Raymond;
- Minton, Matthew;
- Donaldson, Rachel;
- Li, Qun;
- Duan, Shenghui;
- Davenport, Ruth;
- Miller, Raymond D.;
- Kwok, Pui-Yan
Publication type:
Article
Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR.
Published in:
Human Genetics, 2005, v. 118, n. 3/4, p. 466, doi. 10.1007/s00439-005-0048-2
By:
- Helms, Cynthia;
- Saccone, Nancy L.;
- Li Cao;
- Daw, Jil A. Wright;
- Kai Cao;
- Hsu, Tony M.;
- Taillon-Miller, Patricia;
- Shenghui Duan;
- Gordon, Derek;
- Pierce, Brandon;
- Ott, Jurg;
- Rice, John;
- Fernandez-Vina, Marcelo A.;
- Pui-Yan Kwok;
- Menter, Alan;
- Bowcock, Anne M.
Publication type:
Article
Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility.
Published in:
Human Genetics, 2003, v. 112, n. 1, p. 34, doi. 10.1007/s00439-002-0851-y
By:
- Speckman, Rebecca A.;
- Wright Daw, Jil A.;
- Helms, Cynthia;
- Duan, Shenghui;
- Cao, Li;
- Taillon-Miller, Patricia;
- Kwok, Pui-Yan;
- Menter, Alan;
- Bowcock, Anne M.
Publication type:
Article
ATRAID regulates the action of nitrogen-containing bisphosphonates on bone.
Published in:
Science Translational Medicine, 2020, v. 12, n. 544, p. 1, doi. 10.1126/scitranslmed.aav9166
By:
- Surface, Lauren E.;
- Burrow, Damon T.;
- Li, Jinmei;
- Park, Jiwoong;
- Kumar, Sandeep;
- Lyu, Cheng;
- Song, Niki;
- Yu, Zhou;
- Rajagopal, Abbhirami;
- Bae, Yangjin;
- Lee, Brendan H.;
- Mumm, Steven;
- Gu, Charles C.;
- Baker, Jonathan C.;
- Mohseni, Mahshid;
- Sum, Melissa;
- Huskey, Margaret;
- Duan, Shenghui;
- Bijanki, Vinieth N.;
- Civitelli, Roberto
Publication type:
Article
A Subset of Methylated CpG Sites Differentiate Psoriatic from Normal Skin.
Published in:
Journal of Investigative Dermatology, 2012, v. 132, n. 3 part 1, p. 583, doi. 10.1038/jid.2011.348
By:
- Roberson, Elisha D O;
- Liu, Ying;
- Ryan, Caitriona;
- Joyce, Cailin E;
- Duan, Shenghui;
- Cao, Li;
- Martin, Ann;
- Liao, Wilson;
- Menter, Alan;
- Bowcock, Anne M
Publication type:
Article
A Genome-Wide Association Study of Psoriasis and Psoriatic Arthritis Identifies New Disease Loci.
Published in:
PLoS Genetics, 2008, v. 4, n. 4, p. 1, doi. 10.1371/journal.pgen.1000041
By:
- Ying Liu;
- Helms, Cynthia;
- Liao, Wilson;
- Zaba, Lisa C.;
- Shenghui Duan;
- Gardner, Jennifer;
- Wise, Carol;
- Miner, Andrew;
- Malloy, M. J.;
- Pullinger, Clive R.;
- Kane, John P.;
- Saccone, Scott;
- Worthington, Jane;
- Bruce, Ian;
- Pui-Yan Kwok;
- Menter, Alan;
- Krueger, James;
- Barton, Anne;
- Saccone, Nancy L.;
- Bowcock, Anne M.
Publication type:
Article
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).
Published in:
Journal of Bone & Mineral Research, 2017, v. 32, n. 4, p. 757, doi. 10.1002/jbmr.3034
By:
- Whyte, Michael P;
- McAlister, William H;
- Fallon, Michael D;
- Pierpont, Mary Ella;
- Bijanki, Vinieth N;
- Duan, Shenghui;
- Otaify, Ghada A;
- Sly, William S;
- Mumm, Steven
Publication type:
Article
LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low‐Density Lipoprotein Receptor‐Related Protein 6.
Published in:
JBMR Plus, 2023, v. 7, n. 4, p. 1, doi. 10.1002/jbm4.10717
By:
- Whyte, Michael P;
- Mumm, Steven;
- Baker, Jonathan C;
- Zhang, Fan;
- Sedighi, Homer;
- Duan, Shenghui;
- Cundy, Tim
Publication type:
Article
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.
Published in:
JBMR Plus, 2022, v. 6, n. 8, p. 1, doi. 10.1002/jbm4.10663
By:
- Turan, Serap;
- Mumm, Steven;
- Alavanda, Ceren;
- Kaygusuz, Betul Sare;
- Gurpinar Tosun, Busra;
- Arman, Ahmet;
- Huskey, Margaret;
- Guran, Tulay;
- Duan, Shenghui;
- Bereket, Abdullah;
- Whyte, Michael P.
Publication type:
Article

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