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Items: 17

1.
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
AbstractArticlePDF–4.1M
2.
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
AbstractArticlePDF–1.0M
3.
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
AbstractArticlePDF–1.6M
4.
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
AbstractArticlePDF–1.4M
5.
An SNX10-dependent mechanism downregulates fusion between mature osteoclasts
Maayan Barnea-Zohar, Sabina E. Winograd-Katz, Moran Shalev, Esther Arman, Nina Reuven, Lee Roth, Ofra Golani, Merle Stein, Fadi Thalji, Moien Kanaan, Jan Tuckermann, Benjamin Geiger, Ari Elson
J Cell Sci. 2021 May 1; 134(9): jcs254979. Published online 2021 May 11. doi: 10.1242/jcs.254979
PMCID:
PMC8182410
AbstractArticle
6.
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis
Odelia Chorin, Naomi Yachelevich, Khaled Mohamed, Ilana Moscatelli, John Pappas, Kim Henriksen, Gilad D. Evrony
Mol Genet Genomic Med. 2020 Oct; 8(10): e1405. Published online 2020 Jul 21. doi: 10.1002/mgg3.1405
PMCID:
PMC7549584
AbstractArticlePDF–866K
7.
Osteopetrotic induced pluripotent stem cells derived from patients with different disease-associated mutations by non-integrating reprogramming methods
Fatma Visal Okur, İnci Cevher, Cansu Özdemir, Çetin Kocaefe, Duygu Uçkan Çetinkaya
Stem Cell Res Ther. 2019; 10: 211. Published online 2019 Jul 17. doi: 10.1186/s13287-019-1316-8
PMCID:
PMC6637500
AbstractArticlePDF–3.5M
8.
ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth
Yanli Zhang, Dongrui Ji, Lin Li, Shaoqing Yang, Hengwei Zhang, Xiaohong Duan
Theranostics. 2019; 9(5): 1387–1400. Published online 2019 Feb 20. doi: 10.7150/thno.29761
PMCID:
PMC6401512
AbstractArticlePDF–2.6M
9.
Mesenchymal Stromal Cell‐Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl‐Deficient Osteopetrosis
Ciro Menale, Elisabetta Campodoni, Eleonora Palagano, Stefano Mantero, Marco Erreni, Antonio Inforzato, Elena Fontana, Francesca Schena, Rob van't Hof, Monica Sandri, Anna Tampieri, Anna Villa, Cristina Sobacchi
Stem Cells Transl Med. 2019 Jan; 8(1): 22–34. Published online 2018 Sep 5. doi: 10.1002/sctm.18-0085
PMCID:
PMC6312453
AbstractArticlePDF–9.6M
10.
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity
Aritoshi Iida, Weirong Xing, Martine K F Docx, Tomoki Nakashima, Zheng Wang, Mamori Kimizuka, Wim Van Hul, Dietz Rating, Jürgen Spranger, Hirohumi Ohashi, Noriko Miyake, Naomichi Matsumoto, Subburaman Mohan, Gen Nishimura, Geert Mortier, Shiro Ikegawa
J Med Genet. Author manuscript; available in PMC 2018 Jan 16.
Published in final edited form as: J Med Genet. 2016 Aug; 53(8): 568–574. Published online 2016 Apr 7. doi: 10.1136/jmedgenet-2016-103756
PMCID:
PMC5769692
AbstractArticlePDF–628K
11.
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families
Xiao-ya Zhang, Jin-wei He, Wen-zhen Fu, Chun Wang, Zhen-lin Zhang
Acta Pharmacol Sin. 2017 Nov; 38(11): 1456–1465. Published online 2017 Aug 17. doi: 10.1038/aps.2017.108
PMCID:
PMC5672067
AbstractArticlePDF–7.3M
12.
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts
Eva-Lena Stattin, Petra Henning, Joakim Klar, Emma McDermott, Christina Stecksen-Blicks, Per-Erik Sandström, Therese G. Kellgren, Patrik Rydén, Göran Hallmans, Torsten Lönnerholm, Adam Ameur, Miep H. Helfrich, Fraser P. Coxon, Niklas Dahl, Johan Wikström, Ulf H. Lerner
Sci Rep. 2017; 7: 3012. Published online 2017 Jun 7. doi: 10.1038/s41598-017-02533-2
PMCID:
PMC5462793
AbstractArticlePDF–5.1M
13.
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
AbstractArticlePDF–3.7M
14.
As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene
Cristina Sobacchi, Alessandra Pangrazio, Antonio González-Meneses Lopez, Diego Pascual-Vaca Gomez, Maria Elena Caldana, Lucia Susani, Paolo Vezzoni, Anna Villa
J Bone Miner Res. 2014 Jul; 29(7): 1646–1650. Published online 2014 Jun 25. doi: 10.1002/jbmr.2203
PMCID:
PMC4258090
AbstractArticlePDF–846K
15.
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
AbstractArticlePDF–3.6M
16.
Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3
Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens Bollerslev, Marie-Christine de Vernejoul, Wim Van Hul
Am J Hum Genet. 2001 Sep; 69(3): 647–654. Published online 2001 Jul 23. doi: 10.1086/323132
PMCID:
PMC1235505
AbstractArticlePDF–226K
17.
Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8.
P J Venta, T B Shows, P J Curtis, R E Tashian
Proc Natl Acad Sci U S A. 1983 Jul; 80(14): 4437–4440. doi: 10.1073/pnas.80.14.4437
PMCID:
PMC384053
SummaryPage BrowsePDF–959K

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