Literature DB >> 21209049

It ANKH necessarily so.

Michael T Collins, Manfred Boehm.   

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Year:  2011        PMID： 21209049      PMCID： PMC3038474          DOI： 10.1210/jc.2010-2614

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


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  17 in total

Review 1.  Physiological role of alkaline phosphatase explored in hypophosphatasia.

Authors:  Michael P Whyte
Journal:  Ann N Y Acad Sci       Date:  2010-03       Impact factor: 5.691

2.  Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.

Authors:  E Reichenberger; V Tiziani; S Watanabe; L Park; Y Ueki; C Santanna; S T Baur; R Shiang; D K Grange; P Beighton; J Gardner; H Hamersma; S Sellars; R Ramesar; A C Lidral; A Sommer; C M Raposo do Amaral; R J Gorlin; J B Mulliken; B R Olsen
Journal:  Am J Hum Genet       Date:  2001-04-16       Impact factor: 11.025

3.  Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.

Authors:  P Nürnberg; H Thiele; D Chandler; W Höhne; M L Cunningham; H Ritter; G Leschik; K Uhlmann; C Mischung; K Harrop; J Goldblatt; Z U Borochowitz; D Kotzot; F Westermann; S Mundlos; H S Braun; N Laing; S Tinschert
Journal:  Nat Genet       Date:  2001-05       Impact factor: 38.330

4.  Mutations in ANKH cause chondrocalcinosis.

Authors:  Adrian Pendleton; Michelle D Johnson; Anne Hughes; Kyle A Gurley; Andrew M Ho; Michael Doherty; Josh Dixey; Pierre Gillet; Damien Loeuille; Rodney McGrath; Antonio Reginato; Rita Shiang; Gary Wright; Patrick Netter; Charlene Williams; David M Kingsley
Journal:  Am J Hum Genet       Date:  2002-09-20       Impact factor: 11.025

5.  Role of the mouse ank gene in control of tissue calcification and arthritis.

Authors:  A M Ho; M D Johnson; D M Kingsley
Journal:  Science       Date:  2000-07-14       Impact factor: 47.728

6.  Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.

Authors:  Eva Morava; Jirko Kühnisch; Jefte M Drijvers; Joris H Robben; Cor Cremers; Petra van Setten; Amanda Branten; Sabine Stumpp; Alphons de Jong; Krysta Voesenek; Sascha Vermeer; Angelien Heister; Hedi L Claahsen-van der Grinten; Charles W O'Neill; Michèl A Willemsen; Dirk Lefeber; Peter M T Deen; Uwe Kornak; Hannie Kremer; Ron A Wevers
Journal:  J Clin Endocrinol Metab       Date:  2010-10-13       Impact factor: 5.958

7.  Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

Authors:  Bettina Lorenz-Depiereux; Dirk Schnabel; Dov Tiosano; Gabriele Häusler; Tim M Strom
Journal:  Am J Hum Genet       Date:  2010-02-04       Impact factor: 11.025

8.  Progressive ankylosis (Ank) protein is expressed by neurons and Ank immunohistochemical reactivity is increased by limbic seizures.

Authors:  Manuel Yepes; Elizabeth Moore; Sharron A N Brown; Heather N Hanscom; Elizabeth P Smith; Daniel A Lawrence; Jeffrey A Winkles
Journal:  Lab Invest       Date:  2003-07       Impact factor: 5.662

9.  Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

Authors:  Frank Rutsch; Nico Ruf; Sucheta Vaingankar; Mohammad R Toliat; Anita Suk; Wolfgang Höhne; Galen Schauer; Mandy Lehmann; Tony Roscioli; Dirk Schnabel; Jörg T Epplen; Alex Knisely; Andrea Superti-Furga; James McGill; Marco Filippone; Alan R Sinaiko; Hillary Vallance; Bernd Hinrichs; Wendy Smith; Merry Ferre; Robert Terkeltaub; Peter Nürnberg
Journal:  Nat Genet       Date:  2003-08       Impact factor: 38.330

10.  Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization.

Authors:  Lovisa Hessle; Kristen A Johnson; H Clarke Anderson; Sonoko Narisawa; Adnan Sali; James W Goding; Robert Terkeltaub; José Luis Millan
Journal:  Proc Natl Acad Sci U S A       Date:  2002-06-24       Impact factor: 11.205
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  4 in total

Review 1.  The presentation, assessment, pathogenesis, and treatment of calcinosis in juvenile dermatomyositis.

Authors:  Mark F Hoeltzel; Edward J Oberle; Angela Byun Robinson; Arunima Agarwal; Lisa G Rider
Journal:  Curr Rheumatol Rep       Date:  2014-12       Impact factor: 4.592

2.  Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia.

Authors:  Barry L Gruber; Ana Rita Couto; Jácome Bruges Armas; Matthew A Brown; Kathleen Finzel; Robert A Terkeltaub
Journal:  J Clin Rheumatol       Date:  2012-06       Impact factor: 3.517

Review 3.  Genetics and mechanisms of crystal deposition in calcium pyrophosphate deposition disease.

Authors:  Florence W L Tsui
Journal:  Curr Rheumatol Rep       Date:  2012-04       Impact factor: 4.592

Review 4.  Extracellular pyrophosphate in the kidney: how does it get there and what does it do?.

Authors:  Shabbir H Moochhala
Journal:  Nephron Physiol       Date:  2012-10-12
  4 in total

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