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Items: 1 to 20 of 102

1.

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

Stattin EL, Henning P, Klar J, McDermott E, Stecksen-Blicks C, Sandström PE, Kellgren TG, Rydén P, Hallmans G, Lönnerholm T, Ameur A, Helfrich MH, Coxon FP, Dahl N, Wikström J, Lerner UH.

Sci Rep. 2017 Jun 7;7(1):3012. doi: 10.1038/s41598-017-02533-2.

2.

An SNX10 mutation causes malignant osteopetrosis of infancy.

Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S, Israel S, Weintraub M, Taraboulos A, Bar-Shavit Z, Elpeleg O.

J Med Genet. 2012 Apr;49(4):221-6. doi: 10.1136/jmedgenet-2011-100520.

PMID:
22499339
3.

Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption.

Ye L, Morse LR, Zhang L, Sasaki H, Mills JC, Odgren PR, Sibbel G, Stanley JR, Wong G, Zamarioli A, Battaglino RA.

PLoS Genet. 2015 Mar 26;11(3):e1005057. doi: 10.1371/journal.pgen.1005057. eCollection 2015 Mar.

4.

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

Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kühl JS, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C.

J Bone Miner Res. 2013 May;28(5):1041-9. doi: 10.1002/jbmr.1849.

5.

Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212+1G>T mutation in SNX10 gene.

Xu M, Stattin EL, Murphy M, Barry F.

Stem Cell Res. 2017 Oct;24:51-54. doi: 10.1016/j.scr.2017.07.024. Epub 2017 Jul 24.

6.

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A.

Am J Hum Genet. 2008 Jul;83(1):64-76. doi: 10.1016/j.ajhg.2008.06.015.

7.

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.

Shamriz O, Shaag A, Yaacov B, NaserEddin A, Weintraub M, Elpeleg O, Stepensky P.

Clin Genet. 2017 Jul;92(1):80-85. doi: 10.1111/cge.12804. Epub 2016 Jun 2.

PMID:
27187610
8.

TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis.

Koçak G, Güzel BN, Mıhçı E, Küpesiz OA, Yalçın K, Manguoğlu AE.

Gene. 2019 Jun 20;702:83-88. doi: 10.1016/j.gene.2019.02.088. Epub 2019 Mar 19.

PMID:
30898715
9.

Structure of human SNX10 reveals insights into its role in human autosomal recessive osteopetrosis.

Xu T, Xu J, Ye Y, Wang Q, Shu X, Pei D, Liu J.

Proteins. 2014 Dec;82(12):3483-9. doi: 10.1002/prot.24689. Epub 2014 Oct 1.

PMID:
25212774
10.

SNX10 is required for osteoclast formation and resorption activity.

Zhu CH, Morse LR, Battaglino RA.

J Cell Biochem. 2012 May;113(5):1608-15. doi: 10.1002/jcb.24029.

PMID:
22174188
11.

Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.

Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C.

Calcif Tissue Int. 2009 Jan;84(1):1-12. doi: 10.1007/s00223-008-9196-4. Epub 2008 Dec 12. Review.

PMID:
19082854
12.

Osteopetrosis: genetics, treatment and new insights into osteoclast function.

Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH.

Nat Rev Endocrinol. 2013 Sep;9(9):522-36. doi: 10.1038/nrendo.2013.137. Epub 2013 Jul 23. Review.

PMID:
23877423
13.

Malignant autosomal recessive osteopetrosis caused by spontaneous mutation of murine Rank.

Kapur RP, Yao Z, Iida MH, Clarke CM, Doggett B, Xing L, Boyce BF.

J Bone Miner Res. 2004 Oct;19(10):1689-97. Epub 2004 Jul 21.

14.

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

Mégarbané A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C.

Eur J Med Genet. 2013 Jan;56(1):32-5. doi: 10.1016/j.ejmg.2012.10.010. Epub 2012 Oct 31.

PMID:
23123320
15.
16.

Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor.

Nicholls BM, Bredius RG, Hamdy NA, Gerritsen EJ, Lankester AC, Hogendoorn PC, Nesbitt SA, Horton MA, Flanagan AM.

J Bone Miner Res. 2005 Dec;20(12):2264-70. Epub 2005 Aug 8.

17.

Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.

Zhang XY, He JW, Fu WZ, Wang C, Zhang ZL.

Acta Pharmacol Sin. 2017 Nov;38(11):1456-1465. doi: 10.1038/aps.2017.108. Epub 2017 Aug 17.

18.

A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF.

Douni E, Rinotas V, Makrinou E, Zwerina J, Penninger JM, Eliopoulos E, Schett G, Kollias G.

Hum Mol Genet. 2012 Feb 15;21(4):784-98. doi: 10.1093/hmg/ddr510. Epub 2011 Nov 7.

PMID:
22068587
19.

Targeted disruption of leucine-rich repeat kinase 1 but not leucine-rich repeat kinase 2 in mice causes severe osteopetrosis.

Xing W, Liu J, Cheng S, Vogel P, Mohan S, Brommage R.

J Bone Miner Res. 2013 Sep;28(9):1962-74. doi: 10.1002/jbmr.1935.

20.

Deficiency of sorting nexin 10 prevents bone erosion in collagen-induced mouse arthritis through promoting NFATc1 degradation.

Zhou C, You Y, Shen W, Zhu YZ, Peng J, Feng HT, Wang Y, Li D, Shao WW, Li CX, Li WZ, Xu J, Shen X.

Ann Rheum Dis. 2016 Jun;75(6):1211-8. doi: 10.1136/annrheumdis-2014-207134. Epub 2015 Jul 3.

PMID:
26141367

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