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Select item 111070181.

A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle

Julien Corbeau, Cécile Grohs, Jeanlin Jourdain, Mekki Boussaha, Florian Besnard, Anne Barbat, Vincent Plassard, Julie Rivière, Christophe Hamelin, Jeremy Mortier, Didier Boichard, Raphaël Guatteo, Aurélien Capitan

Genet Sel Evol. 2024; 56: 39. Published online 2024 May 21. doi: 10.1186/s12711-024-00909-3

PMCID:: PMC11107018

Abstract Article PDF–2.8M

Select item 109850162.

Fatality owing to pulmonary hemorrhage following pamidronate disodium administration in a neonate with osteogenesis imperfecta type 2: A case report

Rintaro Nagoshi, Shoichiro Amari, Yu Abiko, Yuka Sano Wada, Akira Ishiguro, Reiko Horikawa, Yushi Ito

Clin Pediatr Endocrinol. 2024; 33(2): 76–81. Published online 2024 Feb 9. doi: 10.1297/cpe.2023-0061

PMCID:: PMC10985016

Abstract Article PDF–1.2M

Select item 104953193.

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Yoshihiko Kodama, Satoru Meiri, Tomoko Asada, Misayo Matsuyama, Shinya Makino, Minayo Iwai, Masatoshi Yamaguchi, Hiroshi Moritake

Hum Genome Var. 2023; 10: 25. Published online 2023 Sep 11. doi: 10.1038/s41439-023-00252-x

PMCID:: PMC10495319

Abstract Article PDF–826K

Select item 104944984.

The Natural History of Symptomatic Fractures in Children and Adolescents with Osteogenesis Imperfecta Type 1: A Cohort Study from Western Australia

Kiranjit K Joshi, Aris Siafarikas, Richard Prince

JBMR Plus. 2023 Sep; 7(9): e10782. Published online 2023 Jun 21. doi: 10.1002/jbm4.10782

PMCID:: PMC10494498

Abstract Article PDF–259K

Select item 103474975.

Osteogenesis imperfecta type VIII: highlighting the need for genetic testing

Haika Mariki, Kandi Muze, Fatima Mussa, Karim Premji Manji

BMJ Case Rep. 2023; 16(7): e253155. Published online 2023 Jul 12. doi: 10.1136/bcr-2022-253155

PMCID:: PMC10347497

Abstract Article PDF–776K

Select item 101117976.

Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1—further expansion of the phenotypic spectrum

Kristen A. Mikhail, Elizabeth VanSickle, Linda Z. Rossetti

Cold Spring Harb Mol Case Stud. 2023 Feb; 9(1): a006260. doi: 10.1101/mcs.a006260

PMCID:: PMC10111797

Abstract Article PDF–1.0M

Select item 100950927.

Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI

Irina Zh. Zhalsanova, Anna Evgenievna Postrigan, Nail Raushanovich Valiakhmetov, Nikita Aleksandrovich Kolesnikov, Daria Ivanovna Zhigalina, Aleksei Andreevich Zarubin, Valeria Viktorovna Petrova, Larisa Ivanovna Minaycheva, Gulnara Narimanovna Seitova, Nikolay Alekseevich Skryabin, Vadim Anatolevich Stepanov

Int J Mol Sci. 2023 Apr; 24(7): 6672. Published online 2023 Apr 3. doi: 10.3390/ijms24076672

PMCID:: PMC10095092

Abstract Article PDF–3.0M

Select item 100910078.

Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature

Büşra Eser Çavdartepe, Rojan İpek

Mol Syndromol. 2023 Apr; 14(2): 164–170. Published online 2023 Jan 11. doi: 10.1159/000528201

PMCID:: PMC10091007

Abstract Article PDF–691K

Select item 100310549.

Exploration of the skeletal phenotype of the Col1a1^+/Mov13 mouse model for haploinsufficient osteogenesis imperfecta type 1

Lauria Claeys, Lidiia Zhytnik, Lisanne E. Wisse, Huib W. van Essen, E. Marelise W. Eekhoff, Gerard Pals, Nathalie Bravenboer, Dimitra Micha

Front Endocrinol (Lausanne) 2023; 14: 1145125. Published online 2023 Mar 8. doi: 10.3389/fendo.2023.1145125

PMCID:: PMC10031054

Abstract Article PDF–1.5M

Select item 995657910.

A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII

Piranit Nik Kantaputra, Salita Angkurawaranon, Worrachet Intachai, Chumpol Ngamphiw, Bjorn Olsen, Sissades Tongsima, Timothy C. Cox, James R. Ketudat Cairns

Genes (Basel) 2023 Feb; 14(2): 322. Published online 2023 Jan 26. doi: 10.3390/genes14020322

PMCID:: PMC9956579

Abstract Article PDF–21M

Select item 995336411.

Brain-Type Creatine Kinase Release from Cultured Osteoclasts Exposed to Neridronate in Children Affected by Osteogenesis Imperfecta Type 1

Maria Felicia Faienza, Albina Tummolo, Mauro Celli, Roberto Finocchiaro, Laura Piacente, Francesca Di Serio, Grazia Paola Nicchia, Giacomina Brunetti, Patrizia D’Eufemia

Biomedicines. 2023 Feb; 11(2): 458. Published online 2023 Feb 4. doi: 10.3390/biomedicines11020458

PMCID:: PMC9953364

Abstract Article PDF–1.8M

Select item 959840312.

Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review

Anton Tyurin, Elena Merkuryeva, Aliya Zaripova, Tatyana Markova, Tatyana Nagornova, Ilya Dantsev, Dina Nadyrshina, Ekaterina Zakharova, Rita Khusainova

Biomedicines. 2022 Oct; 10(10): 2363. Published online 2022 Sep 22. doi: 10.3390/biomedicines10102363

PMCID:: PMC9598403

Abstract Article PDF–1.1M

Select item 948238913.

Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I

Zhijie Niu, Yongjing Lai, Wenwen Zhou, Lingyuan Liu, Songhua Tan, Guangyao He, Jingyu Li, Fen Tang, Yupei Su, Yanglong Xu, Lei Liu, Lihong Xie, Qin Fang, Anzhou Tang

Mol Genet Genomic Med. 2022 Sep; 10(9): e2019. Published online 2022 Jul 19. doi: 10.1002/mgg3.2019

PMCID:: PMC9482389

Abstract Article PDF–2.1M

Select item 922174414.

Point of Care Ultrasound Identification of Multiple Rib Fractures in a Pediatric Patient with Osteogenesis Imperfecta Type 3

Samuel Enci Quek, Vigil James, Leodivica Castillo, Ronald Ming Ren Tan, Gene Yong-Kwang Ong

Children (Basel) 2022 Jun; 9(6): 864. Published online 2022 Jun 10. doi: 10.3390/children9060864

PMCID:: PMC9221744

Abstract Article PDF–2.3M

Select item 901395815.

Dental phenotype in an adolescent with osteogenesis imperfecta type XII

Joanna Yuet-ling Tung, Jeni Lai-in Ho, Ricky Wong, Siu-chung Fung

BMJ Case Rep. 2022; 15(4): e246554. Published online 2022 Apr 13. doi: 10.1136/bcr-2021-246554

PMCID:: PMC9013958

Abstract Article PDF–854K

Select item 892593416.

Osteogenesis Imperfecta Type 3 in a 10-Year-Old Child With Acute Respiratory Distress Syndrome

Delange Augustin, Delange Hendrick Augustin, Daniel David, Jefferson Arnold Théodas, Albertini Fritzlet Derisier

Cureus. 2022 Feb; 14(2): e22198. Published online 2022 Feb 14. doi: 10.7759/cureus.22198

PMCID:: PMC8925934

Abstract Article PDF–613K

Select item 887549117.

The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts

Vincent Maranda, Marie-Hélène Gaumond, Pierre Moffatt

Int J Mol Sci. 2022 Feb; 23(4): 2148. Published online 2022 Feb 15. doi: 10.3390/ijms23042148

PMCID:: PMC8875491

Abstract Article PDF–4.1M

Select item 873578818.

Anesthetic management of ventricular-peritoneal shunt implantation in osteogenesis imperfecta type IIB: A case report

Mayumi To, Kota Kamizato, Hayato Shinzato, Manabu Kakinohana

Medicine (Baltimore) 2022 Jan 7; 101(1): e28483. Published online 2022 Jan 7. doi: 10.1097/MD.0000000000028483

PMCID:: PMC8735788

Abstract Article PDF–166K

Select item 858099419.

The WNT1^G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV

Nele Vollersen, Wenbo Zhao, Tim Rolvien, Fabiola Lange, Felix Nikolai Schmidt, Stephan Sonntag, Doron Shmerling, Simon von Kroge, Kilian Elia Stockhausen, Ahmed Sharaf, Michaela Schweizer, Meliha Karsak, Björn Busse, Ernesto Bockamp, Oliver Semler, Michael Amling, Ralf Oheim, Thorsten Schinke, Timur Alexander Yorgan

Bone Res. 2021; 9: 48. Published online 2021 Nov 10. doi: 10.1038/s41413-021-00170-0