Literature DB >> 25419438

Snx10: a newly identified locus associated with human osteopetrosis.

Liang Ye1, Leslie R Morse2, Ricardo A Battaglino1.   

Abstract

Entities:  

Year:  2013        PMID： 25419438      PMCID： PMC4237201          DOI： 10.1038/bonekey.2013.155

Source DB:  PubMed          Journal:  IBMS Bonekey        ISSN： 1940-8692


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  23 in total

Review 1.  Sorting out the cellular functions of sorting nexins.

Authors:  Carolyn A Worby; Jack E Dixon
Journal:  Nat Rev Mol Cell Biol       Date:  2002-12       Impact factor: 94.444

Review 2.  Vesicular trafficking in osteoclasts.

Authors:  Fraser P Coxon; Adam Taylor
Journal:  Semin Cell Dev Biol       Date:  2008-08-14       Impact factor: 7.727

3.  Sorting nexin 10 induces giant vacuoles in mammalian cells.

Authors:  Baoming Qin; Miao He; Xiao Chen; Duanqing Pei
Journal:  J Biol Chem       Date:  2006-09-29       Impact factor: 5.157

4.  Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.

Authors:  U Kornak; D Kasper; M R Bösl; E Kaiser; M Schweizer; A Schulz; W Friedrich; G Delling; T J Jentsch
Journal:  Cell       Date:  2001-01-26       Impact factor: 41.582

5.  Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.

Authors:  B D Gelb; G P Shi; H A Chapman; R J Desnick
Journal:  Science       Date:  1996-08-30       Impact factor: 47.728

6.  An SNX10 mutation causes malignant osteopetrosis of infancy.

Authors:  Memet Aker; Alex Rouvinski; Saar Hashavia; Asaf Ta-Shma; Avraham Shaag; Shamir Zenvirt; Shoshana Israel; Michael Weintraub; Albert Taraboulos; Zvi Bar-Shavit; Orly Elpeleg
Journal:  J Med Genet       Date:  2012-04       Impact factor: 6.318

7.  SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.

Authors:  Alessandra Pangrazio; Anders Fasth; Andrea Sbardellati; Paul J Orchard; Kimberly A Kasow; Jamal Raza; Canan Albayrak; Davut Albayrak; Olivier M Vanakker; Barbara De Moerloose; Ashok Vellodi; Luigi D Notarangelo; Claire Schlack; Gabriele Strauss; Jörn-Sven Kühl; Elena Caldana; Nadia Lo Iacono; Lucia Susani; Uwe Kornak; Ansgar Schulz; Paolo Vezzoni; Anna Villa; Cristina Sobacchi
Journal:  J Bone Miner Res       Date:  2013-05       Impact factor: 6.741

Review 8.  Molecular regulation of osteoclast activity.

Authors:  Angela Bruzzaniti; Roland Baron
Journal:  Rev Endocr Metab Disord       Date:  2006-06       Impact factor: 9.306

9.  I-TASSER server for protein 3D structure prediction.

Authors:  Yang Zhang
Journal:  BMC Bioinformatics       Date:  2008-01-23       Impact factor: 3.169

10.  Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.

Authors:  André Mégarbané; Alessandra Pangrazio; Anna Villa; Eliane Chouery; Joseph Maarawi; Sandra Sabbagh; Gérard Lefranc; Cristina Sobacchi
Journal:  Eur J Med Genet       Date:  2012-10-31       Impact factor: 2.708
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  2 in total

1.  FKBP12: A partner of Snx10 required for vesicular trafficking in osteoclasts.

Authors:  Ricardo A Battaglino; Prakash Jha; Farhath Sultana; Weimin Liu; Leslie R Morse
Journal:  J Cell Biochem       Date:  2019-03-19       Impact factor: 4.429

2.  A Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis.

Authors:  Akbar Amirfiroozy; Amir A Hamidieh; Zahra Golchehre; Azim Rezamand; Mahin Yahyaei; Fatemeh Beiranvandi; Soheyla Amirfiroozy; Mohammad Keramatipour
Journal:  Avicenna J Med Biotechnol       Date:  2017 Oct-Dec
  2 in total

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