Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is caused by mutation in the transmembrane protein ANKH.

被引：76

作者：

Williams, CJ

Zhang, Y

Timms, A

Bonavita, G

Caeiro, F

Broxholme, J

Marchegiani, R

Reginato, A

Russell, RGG

Wordsworth, BP

Carr, AJ

Brown, MA

机构：

[1] Nuffield Orthopaed Ctr, Nuffield Dept Orthopaed Surg, Oxford OX3 7LD, England

[2] Univ Oxford, Inst Musculoskeletal Res, Oxford, England

[3] Univ Med & Dent New Jersey, Div Rheumatol, Camden, NJ USA

[4] Hosp Privado, Cordoba, Argentina

[5] Wellcome Trust Ctr Human Genet, Oxford, England

[6] Thomas Jefferson Univ, Dept Med Rheumatol, Philadelphia, PA 19107 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 04期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1086/343053

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

1527

引用

页码：432 / 432

页数：1

共 13 条

[1] Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease [J].

Andrew, LJ ;

Brancolini, V ;

de la Pena, LS ;

Devoto, M ;

Caeiro, F ;

Marchegiani, R ;

Reginato, A ;

Gaucher, A ;

Netter, P ;

Gillet, P ;

Loeuille, D ;

Prockop, DJ ;

Carr, A ;

Wordsworth, BF ;

Lathrop, M ;

Butcher, S ;

Considine, E ;

Everts, K ;

Nicod, A ;

Walsh, S ;

Williams, CJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (01) :136-145

[2]

BALDWIN CT, 1995, AM J HUM GENET, V56, P692

[3] Association between synovial fluid levels of inorganic pyrophosphate and short term radiographic outcome of knee osteoarthritis [J].

Doherty, M ;

Belcher, C ;

Regan, M ;

Jones, A ;

Ledingham, J .

ANNALS OF THE RHEUMATIC DISEASES, 1996, 55 (07) :432-436

[4]

DOHERTY M, 1991, BRIT J RHEUMATOL, V30, P10

[5]

FELSON DT, 1989, J RHEUMATOL, V16, P1241

[6] Role of the mouse ank gene in control of tissue calcification and arthritis [J].

Ho, AM ;

Johnson, MD ;

Kingsley, DM .

SCIENCE, 2000, 289 (5477) :265-270

[7]

Johnson M, 2001, ARTHRITIS RHEUM, V44, pS161

[8] Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia [J].

Nürnberg, P ;

Thiele, H ;

Chandler, D ;

Höhne, W ;

Cunningham, ML ;

Ritter, H ;

Leschik, G ;

Uhlmann, K ;

Mischung, C ;

Harrop, K ;

Goldblatt, J ;

Borochowitz, ZU ;

Kotzot, D ;

Westermann, F ;

Mundlos, S ;

Braun, HS ;

Laing, N ;

Tinschert, S .

NATURE GENETICS, 2001, 28 (01) :37-41

[9] THE VITESSE ALGORITHM FOR RAPID EXACT MULTILOCUS LINKAGE ANALYSIS VIA GENOTYPE SET-RECODING AND FUZZY INHERITANCE [J].

OCONNELL, JR ;

WEEKS, DE .

NATURE GENETICS, 1995, 11 (04) :402-408

[10]

Pendleton A, 2001, ARTHRITIS RHEUM, V44, pS101

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