Literature DB >> 22150416

Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.

E H Dutra, I-P Chen, T L McGregor, J D Ranells, E J Reichenberger.   

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Year:  2012        PMID： 22150416      PMCID： PMC3417334          DOI： 10.1111/j.1399-0004.2011.01700.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

1.  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

2.  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

3.  Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.

Authors:  Allison Zajac; Seung-Hak Baek; Imad Salhab; Melissa A Radecki; Sukwha Kim; Hakon Hakonarson; Hyun-Duck Nah
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

4.  Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

Authors:  Uwe Kornak; Francesco Brancati; Martine Le Merrer; Klaske Lichtenbelt; Wolfgang Höhne; Sigrid Tinschert; Francesco Giuseppe Garaci; Bruno Dallapiccola; Peter Nürnberg
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

5.  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

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

Authors:  Charlene J Williams; Yun Zhang; Andrew Timms; Gina Bonavita; Francisco Caeiro; John Broxholme; Jonathan Cuthbertson; Yvonne Jones; Raul Marchegiani; Antonio Reginato; R Graham G Russell; B Paul Wordsworth; Andrew J Carr; Matthew A Brown
Journal:  Am J Hum Genet       Date:  2002-09-17       Impact factor: 11.025

7.  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 in total
  4 in total

1.  A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

Authors:  Ying Hu; I-Ping Chen; Salome de Almeida; Valdenize Tiziani; Cassio M Raposo Do Amaral; Kalpana Gowrishankar; Maria Rita Passos-Bueno; Ernst J Reichenberger
Journal:  PLoS One       Date:  2013-08-12       Impact factor: 3.240

2.  Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.

Authors:  Yaling Liu; Eliane H Dutra; Ernst J Reichenberger; I-Ping Chen
Journal:  J Negat Results Biomed       Date:  2016-10-26

3.  Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies.

Authors:  Ana Rita Couto; Bruna Parreira; Russell Thomson; Marta Soares; Deborah M Power; Jim Stankovich; Jácome Bruges Armas; Matthew A Brown
Journal:  Hum Genome Var       Date:  2017-11-02

4.  Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia.

Authors:  Jitendra Kanaujiya; Edward Bastow; Raj Luxmi; Zhifang Hao; Dimitrios Zattas; Mark Hochstrasser; Ernst J Reichenberger; I-Ping Chen
Journal:  Sci Rep       Date:  2018-10-24       Impact factor: 4.379
  4 in total

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