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Select item 108782911.

SNX10基因突变致婴儿恶性石骨症1例并文献复习

周婷, 曾彩霞, 席琼, 杨作成

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Jan 28; 46(1): 108–112. Chinese. doi: 10.11817/j.issn.1672-7347.2021.190322

PMCID:: PMC10878291

Abstract Article PDF–1.0M

Select item 106197262.

Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation

Chariklia Pieridou, Ataf Sabir, Jonathan Lancashire, Yifan Liang, Kevin McMillan, Nick Shaw, Suma Uday

Front Endocrinol (Lausanne) 2023; 14: 1258340. Published online 2023 Oct 18. doi: 10.3389/fendo.2023.1258340

PMCID:: PMC10619726

Abstract Article PDF–9.0M

Select item 102887733.

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 101375764.

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 100403385.

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 96898766.

Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations

Paolo Spinnato, Elena Pedrini, Miriana Rosaria Petrera, Paola Zarantonello, Giovanni Trisolino, Luca Sangiorgi, Maria Carpenzano, Amandine Crombé, Cecilia Tetta

Genes (Basel) 2022 Nov; 13(11): 1965. Published online 2022 Oct 28. doi: 10.3390/genes13111965

PMCID:: PMC9689876

Abstract Article PDF–14M

Select item 94744657.

A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene

Jochen G. Hofstaetter, Gerald J. Atkins, Hajime Kato, Masakazu Kogawa, Stéphane Blouin, Barbara M. Misof, Paul Roschger, Andreas Evdokiou, Dongqing Yang, Lucian B. Solomon, David M. Findlay, Nobuaki Ito

Calcif Tissue Int. 2022; 111(4): 430–444. Published online 2022 May 26. doi: 10.1007/s00223-022-00988-8

PMCID:: PMC9474465

Abstract Article PDF–3.2M

Select item 93975858.

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 91331659.

Progressive skeletal defects caused by Kindlin3 deficiency, a model of autosomal recessive osteopetrosis in humans

Tejasvi Dudiki, Daniel W. Nascimento, Lauren S. Childs, Swetha Kareti, Charlie Androjna, Irina Zhevlakova, Tatiana V. Byzova

Bone. Author manuscript; available in PMC 2023 Jul 1.

Published in final edited form as: Bone. 2022 Jul; 160: 116397. Published online 2022 Mar 25. doi: 10.1016/j.bone.2022.116397

PMCID:: PMC9133165

Abstract Article PDF–2.7M

Select item 897539310.

Hearing Loss in Malignant Infantile Osteopetrosis: A Case-Based Review

Elise De Cuyper, Céline De Cuyper, Leen Willems, Jan Casselman, Ingeborg Dhooge, Helen Van Hoecke

J Int Adv Otol. 2021 Nov; 17(6): 551–558. Published online 2021 Nov 1. doi: 10.5152/iao.2021.21266

PMCID:: PMC8975393

Abstract Article PDF–5.4M

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 857687412.

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

PMCID:: PMC8576874

Abstract Article PDF–1.2M

Select item 838805913.

Brain Abscess in a Patient with Osteopetrosis: A Rare Complication

Merve İşeri Nepesov, Eylem Kıral, Gürkan Bozan, Ömer Kılıç, Kürşat Bora Çarman, Coşkun Yarar, Suzan Şaylısoy, Ener Çağrı Dinleyici

J Clin Res Pediatr Endocrinol. 2021 Sep; 13(3): 358–361. Published online 2021 Aug 23. doi: 10.4274/jcrpe.galenos.2020.2020.0039

PMCID:: PMC8388059

Abstract Article PDF–280K

Select item 833451414.

Cranial CT of autosomal recessive osteopetrosis.

W S Bartynski, P D Barnes, J K Wallman

AJNR Am J Neuroradiol. 1989 May-Jun; 10(3): 543-50.

PMCID:: PMC8334514

Summary PDF–3.8M

Select item 824667215.

Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report

Ping Wu, Zhe Cai, Wen-Hui Jiang, Gen Lu, Pei-Qiong Wu, Zhi-Wei Xie, Jun-Zheng Peng, Chen Chen, Jun-Ye Qi, Li-Zhen Xu, Kun-Ling Shen, Hua-Song Zeng, Gen-Quan Yin

BMC Pediatr. 2021; 21: 297. Published online 2021 Jul 1. doi: 10.1186/s12887-021-02774-1

PMCID:: PMC8246672

Abstract Article PDF–1.1M

Select item 818888416.

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 818241017.

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