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Select item 102887731.

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

Article PDF–4.1M

Select item 101375762.

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

Article PDF–3.3M

Select item 100403383.

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

Article PDF–1.0M

Select item 93975854.

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

Article PDF–1.6M

Select item 86062175.

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

Article PDF–1.4M

Select item 81888846.

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

Article

Select item 81372307.

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

Article PDF–329K

Select item 72272158.

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

Article PDF–1.0M

Select item 46249349.

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

Article PDF–2.9M

Select item 427685610.

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

Article PDF–3.7M

Select item 427511711.

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

Article PDF–4.5M

Select item 346652612.

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

Article PDF–5.6M

Select item 298626213.

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

Article PDF–212K

Select item 291941114.

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

Article PDF–3.6M

Select item 265486515.

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

Article PDF–724K

Select item 1029971516.

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis

Yu Ma, Yali Xu, Yanli Zhang, Xiaohong Duan

Int J Mol Sci. 2023 Jun; 24(12): 10412. Published online 2023 Jun 20. doi: 10.3390/ijms241210412

PMCID:: PMC10299715

Article PDF–2.0M

Select item 883391117.

The Role of the Lysosomal Cl⁻/H⁺ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration

Giovanni Zifarelli

Cells. 2022 Feb; 11(3): 366. Published online 2022 Jan 21. doi: 10.3390/cells11030366

PMCID:: PMC8833911

Article PDF–1.6M

Select item 857687418.

Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants

Chunyu Liu, Muhammad Ajmal, Zaineb Akram, Tariq Ghafoor, Muhammad Farhan, Sobia Shafique, Sughra Wahid, Shahar Bano, Jianqiu Xiao, Humayoon Shafique Satti, Feng Zhang, Tahir Naeem Khan

BMC Med Genomics. 2021; 14: 264. Published online 2021 Nov 9. doi: 10.1186/s12920-021-01117-4