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Select item 29862621.

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

Elena A Bliznetz, Svetlana M Tverskaya, Rena A Zinchenko, Anna V Abrukova, Ekaterina N Savaskina, Maxim V Nikulin, Alexander G Kirillov, Evgeny K Ginter, Alexander V Polyakov

Eur J Hum Genet. 2009 May; 17(5): 664–672. Published online 2009 Jan 28. doi: 10.1038/ejhg.2008.234

PMCID:: PMC2986262

Abstract Article PDF–212K

Select item 42768562.

Secretion of a Truncated Osteopetrosis-associated Transmembrane Protein 1 (OSTM1) Mutant Inhibits Osteoclastogenesis through Down-regulation of the B Lymphocyte-induced Maturation Protein 1 (BLIMP1)-Nuclear Factor of Activated T Cells c1 (NFATc1) Axis

Bongjin Shin, Jungeun Yu, Eui-Soon Park, Seunga Choi, Jiyeon Yu, Jung Me Hwang, Hyeongseok Yun, Young-Ho Chung, Kwan Soo Hong, Jong-Soon Choi, Masamichi Takami, Jaerang Rho

J Biol Chem. 2014 Dec 26; 289(52): 35868–35881. Published online 2014 Oct 30. doi: 10.1074/jbc.M114.589614

PMCID:: PMC4276856

Abstract Article PDF–3.7M

Select item 46249343.

Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts

Tui Neri, Sharon Muggeo, Marianna Paulis, Maria Elena Caldana, Laura Crisafulli, Dario Strina, Maria Luisa Focarelli, Francesca Faggioli, Camilla Recordati, Samantha Scaramuzza, Eugenio Scanziani, Stefano Mantero, Chiara Buracchi, Cristina Sobacchi, Angelo Lombardo, Luigi Naldini, Paolo Vezzoni, Anna Villa, Francesca Ficara

Stem Cell Reports. 2015 Oct 13; 5(4): 558–568. Published online 2015 Sep 3. doi: 10.1016/j.stemcr.2015.08.005

PMCID:: PMC4624934

Abstract Article PDF–2.9M

Select item 42751174.

OSTM1 Regulates β-catenin/Lef1 Interaction and is Required for Wnt/β-catenin Signaling

Michael E. Feigin, Craig C. Malbon

Cell Signal. Author manuscript; available in PMC 2014 Dec 23.

Published in final edited form as: Cell Signal. 2008 May; 20(5): 949–957. Published online 2008 Jan 24. doi: 10.1016/j.cellsig.2008.01.009

PMCID:: PMC4275117

Abstract Article PDF–4.5M

Select item 113764665.

Osteopetrorickets: two contradictory patterns—one unifying diagnosis

Gerald Behr, Marlena Kuhn, Joseph H. Oved, Maria Luisa Sulis

Skeletal Radiol. Author manuscript; available in PMC 2024 Sep 5.

Published in final edited form as: Skeletal Radiol. 2024 Apr; 53(4): 817–820. Published online 2023 Sep 6. doi: 10.1007/s00256-023-04443-z

PMCID:: PMC11376466

Abstract Article PDF–1.0M

Select item 72272156.

Generation of gene-corrected functional osteoclasts from osteopetrotic induced pluripotent stem cells

Xiaojie Xian, Roksana Moraghebi, Henrik Löfvall, Anders Fasth, Kim Henriksen, Johan Richter, Niels-Bjarne Woods, Ilana Moscatelli

Stem Cell Res Ther. 2020; 11: 179. Published online 2020 May 15. doi: 10.1186/s13287-020-01701-y

PMCID:: PMC7227215

Abstract Article PDF–1.0M

Select item 34665267.

Overexpression of a novel osteopetrosis-related gene CCDC154 suppresses cell proliferation by inducing G₂/M arrest

Wanqin Liao, Rongsen Zhao, Liting Lu, Rongrong Zhang, Jiawei Zou, Tao Xu, Changjie Wu, Jiajia Tang, Yuezhen Deng, Xincheng Lu

Cell Cycle. 2012 Sep 1; 11(17): 3270–3279. doi: 10.4161/cc.21642

PMCID:: PMC3466526

Abstract Article PDF–5.6M

Select item 81372308.

Managing challenging pain and irritability in OSTM1 mutation-related infantile malignant osteopetrosis

Qutaibah Alotaibi, Manjiri Dighe

BMJ Case Rep. 2021; 14(5): e242498. Published online 2021 May 19. doi: 10.1136/bcr-2021-242498

PMCID:: PMC8137230

Abstract Article PDF–329K

Select item 81888849.

Autosomal recessive osteopetrosis: mechanisms and treatments

Sara Penna, Anna Villa, Valentina Capo

Dis Model Mech. 2021 May 1; 14(5): dmm048940. Published online 2021 May 10. doi: 10.1242/dmm.048940

PMCID:: PMC8188884

Abstract Article

Select item 291941110.

Optic Nerve Compression and Retinal Degeneration in Tcirg1 Mutant Mice Lacking the Vacuolar-Type H⁺-ATPase a3 Subunit

Nobuyuki Kawamura, Hiroyuki Tabata, Ge-Hong Sun-Wada, Yoh Wada

PLoS One. 2010; 5(8): e12086. Published online 2010 Aug 10. doi: 10.1371/journal.pone.0012086

PMCID:: PMC2919411

Abstract Article PDF–3.6M

Select item 860621711.

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis

Huanhuan Liang, Niu Li, Ru‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang

Mol Genet Genomic Med. 2021 Nov; 9(11): e1815. Published online 2021 Sep 21. doi: 10.1002/mgg3.1815

PMCID:: PMC8606217

Abstract Article PDF–1.4M

Select item 939758512.

Bone Marrow Transplantation as a Therapy for Autosomal Dominant Osteopetrosis Type 2 in Mice

Imranul Alam, Rita L. Gerard-O’Riley, Dena Acton, Sara L. Hardman, Madeline Murphy, Marta B. Alvarez, Rachel J. Blosser, Anthony Sinn, Edward F. Srour, Melissa A. Kacena, Michael J. Econs

FASEB J. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: FASEB J. 2022 Sep; 36(9): e22471. doi: 10.1096/fj.202200678R

PMCID:: PMC9397585

Abstract Article PDF–1.6M

Select item 1004033813.

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Prajna Udupa, Debasish Kumar Ghosh, Neethukrishna Kausthubham, Hitesh Shah, Sandip Bartakke, Ashwin Dalal, Katta M Girisha, Gandham SriLakshmi Bhavani

J Hum Genet. 2023; 68(4): 287–290. Published online 2022 Dec 16. doi: 10.1038/s10038-022-01104-2

PMCID:: PMC10040338

Abstract Article PDF–1.0M

Select item 1013757614.

Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families

Ghada Y. El-Kamah, Mennat I. Mehrez, Mohamed B. Taher, Hala T. El-Bassyouni, Khaled R. Gaber, Khalda S. Amr

Genes (Basel) 2023 Apr; 14(4): 900. Published online 2023 Apr 12. doi: 10.3390/genes14040900

PMCID:: PMC10137576

Abstract Article PDF–3.3M

Select item 1028877315.

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP

Jarosław Dulski, Josiane Souza, Mara Lúcia Santos, Zbigniew K. Wszolek

Orphanet J Rare Dis. 2023; 18: 160. Published online 2023 Jun 22. doi: 10.1186/s13023-023-02772-9

PMCID:: PMC10288773

Abstract Article PDF–4.1M

Select item 265486516.

Osteopetrosis

Zornitza Stark, Ravi Savarirayan

Orphanet J Rare Dis. 2009; 4: 5. Published online 2009 Feb 20. doi: 10.1186/1750-1172-4-5

PMCID:: PMC2654865

Abstract Article PDF–724K

Select item 555817917.

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

Diran Herebian, Bader Alhaddad, Annette Seibt, Thomas Schwarzmayr, Katharina Danhauser, Dirk Klee, Stefani Harmsen, Thomas Meitinger, Tim M Strom, Ansgar Schulz, Ertan Mayatepek, Tobias B Haack, Felix Distelmaier

Eur J Hum Genet. 2017 Sep; 25(9): 1092–1095. Published online 2017 Jun 14. doi: 10.1038/ejhg.2017.96